9606 2 A2M - A2MD|CPAMD5|FWP007|S863-7 MIM:103950|HGNC:HGNC:7|Ensembl:ENSG00000175899|HPRD:00072|Vega:OTTHUMG00000150267 12 12p13.31 alpha-2-macroglobulin protein-coding A2M alpha-2-macroglobulin O C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5|alpha-2-M 20141207 9606 9 NAT1 - AAC1|MNAT|NAT-1|NATI MIM:108345|HGNC:HGNC:7645|Ensembl:ENSG00000171428|HPRD:00149|Vega:OTTHUMG00000097001 8 8p22 N-acetyltransferase 1 (arylamine N-acetyltransferase) protein-coding NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) O N-acetyltransferase type 1|arylamide acetylase 1|arylamine N-acetyltransferase 1|monomorphic arylamine N-acetyltransferase 20141207 9606 10 NAT2 - AAC2|NAT-2|PNAT MIM:612182|HGNC:HGNC:7646|Ensembl:ENSG00000156006|HPRD:02000|Vega:OTTHUMG00000130826 8 8p22 N-acetyltransferase 2 (arylamine N-acetyltransferase) protein-coding NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) O N-acetyltransferase type 2|arylamide acetylase 2|arylamine N-acetyltransferase 2 20141211 9606 15 AANAT - DSPS|SNAT MIM:600950|HGNC:HGNC:19|Ensembl:ENSG00000129673|HPRD:02974|Vega:OTTHUMG00000180179 17 17q25.1 aralkylamine N-acetyltransferase protein-coding AANAT aralkylamine N-acetyltransferase O arylalkylamine N-acetyltransferase|serotonin N-acetyltransferase|serotonin acetylase 20141207 9606 18 ABAT hCG_1984265 GABA-AT|GABAT|NPD009 MIM:137150|HGNC:HGNC:23|Ensembl:ENSG00000183044|HPRD:00661|Vega:OTTHUMG00000048201 16 16p13.2 4-aminobutyrate aminotransferase protein-coding ABAT 4-aminobutyrate aminotransferase O (S)-3-amino-2-methylpropionate transaminase|4-aminobutyrate aminotransferase, mitochondrial|4-aminobutyrate transaminase|GABA aminotransferase|GABA transaminase|GABA transferase|gamma-amino-N-butyrate transaminase 20141207 9606 19 ABCA1 - ABC-1|ABC1|CERP|HDLDT1|TGD MIM:600046|HGNC:HGNC:29|Ensembl:ENSG00000165029|HPRD:02501|Vega:OTTHUMG00000020417 9 9q31.1 ATP-binding cassette, sub-family A (ABC1), member 1 protein-coding ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 O ATP-binding cassette sub-family A member 1|ATP-binding cassette transporter A1|cholesterol efflux regulatory protein|membrane-bound 20141222 9606 30 ACAA1 - ACAA|PTHIO|THIO MIM:604054|HGNC:HGNC:82|Ensembl:ENSG00000060971|HPRD:06815|Vega:OTTHUMG00000131087 3 3p22.2 acetyl-CoA acyltransferase 1 protein-coding ACAA1 acetyl-CoA acyltransferase 1 O 3-ketoacyl-CoA thiolase, peroxisomal|acetyl-Coenzyme A acyltransferase 1|beta-ketothiolase|peroxisomal 3-oxoacyl-CoA thiolase|peroxisomal 3-oxoacyl-Coenzyme A thiolase 20141207 9606 31 ACACA - ACAC|ACACAD|ACC|ACC1|ACCA MIM:200350|HGNC:HGNC:84|Ensembl:ENSG00000278540|HPRD:01938|Vega:OTTHUMG00000188463 17 17q21 acetyl-CoA carboxylase alpha protein-coding ACACA acetyl-CoA carboxylase alpha O ACC-alpha|acetyl-CoA carboxylase 1|acetyl-Coenzyme A carboxylase alpha 20141207 9606 32 ACACB - ACC2|ACCB|HACC275 MIM:601557|HGNC:HGNC:85|Ensembl:ENSG00000076555|HPRD:07044|Vega:OTTHUMG00000169250 12 12q24.11 acetyl-CoA carboxylase beta protein-coding ACACB acetyl-CoA carboxylase beta O ACC-beta|acetyl-CoA carboxylase 2|acetyl-Coenzyme A carboxylase beta 20141207 9606 33 ACADL - ACAD4|LCAD MIM:609576|HGNC:HGNC:88|Ensembl:ENSG00000115361|HPRD:01939|Vega:OTTHUMG00000132989 2 2q34 acyl-CoA dehydrogenase, long chain protein-coding ACADL acyl-CoA dehydrogenase, long chain O acyl-Coenzyme A dehydrogenase, long chain|long-chain specific acyl-CoA dehydrogenase, mitochondrial 20141211 9606 34 ACADM RP4-682C21.1 ACAD1|MCAD|MCADH MIM:607008|HGNC:HGNC:89|Ensembl:ENSG00000117054|HPRD:08447|Vega:OTTHUMG00000009784 1 1p31 acyl-CoA dehydrogenase, C-4 to C-12 straight chain protein-coding ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain O acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain|medium-chain specific acyl-CoA dehydrogenase, mitochondrial 20141222 9606 35 ACADS - ACAD3|SCAD MIM:606885|HGNC:HGNC:90|Ensembl:ENSG00000122971|HPRD:06053|Vega:OTTHUMG00000169203 12 12q24.31 acyl-CoA dehydrogenase, C-2 to C-3 short chain protein-coding ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain O acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain|butyryl-CoA dehydrogenase|mitochondrial short-chain specific acyl-CoA dehydrogenase|short-chain specific acyl-CoA dehydrogenase, mitochondrial|unsaturated acyl-CoA reductase 20141219 9606 36 ACADSB RP11-162A23.1 2-MEBCAD|ACAD7|SBCAD MIM:600301|HGNC:HGNC:91|Ensembl:ENSG00000196177|HPRD:02626|Vega:OTTHUMG00000019200 10 10q26.13 acyl-CoA dehydrogenase, short/branched chain protein-coding ACADSB acyl-CoA dehydrogenase, short/branched chain O 2-methyl branched chain acyl-CoA dehydrogenase|2-methylbutyryl-coenzyme A dehydrogenase|acyl-Coenzyme A dehydrogenase, short/branched chain|short/branched chain specific acyl-CoA dehydrogenase, mitochondrial 20141207 9606 37 ACADVL - ACAD6|LCACD|VLCAD MIM:609575|HGNC:HGNC:92|Ensembl:ENSG00000072778|HPRD:01940|Vega:OTTHUMG00000102157 17 17p13.1 acyl-CoA dehydrogenase, very long chain protein-coding ACADVL acyl-CoA dehydrogenase, very long chain O acyl-Coenzyme A dehydrogenase, very long chain|very long-chain specific acyl-CoA dehydrogenase, mitochondrial 20141219 9606 38 ACAT1 - ACAT|MAT|T2|THIL MIM:607809|HGNC:HGNC:93|Ensembl:ENSG00000075239|HPRD:01946|Vega:OTTHUMG00000166381 11 11q22.3 acetyl-CoA acetyltransferase 1 protein-coding ACAT1 acetyl-CoA acetyltransferase 1 O acetoacetyl Coenzyme A thiolase|acetoacetyl-CoA thiolase|acetyl-CoA acetyltransferase, mitochondrial|acetyl-Coenzyme A acetyltransferase 1|mitochondrial acetoacetyl-CoA thiolase 20141207 9606 39 ACAT2 - - MIM:100678|HGNC:HGNC:94|HPRD:00006 6 6q25.3 acetyl-CoA acetyltransferase 2 protein-coding ACAT2 acetyl-CoA acetyltransferase 2 O acetoacetyl Coenzyme A thiolase|acetyl-CoA acetyltransferase, cytosolic|acetyl-CoA transferase-like protein|cytosolic acetoacetyl-CoA thiolase 20141207 9606 43 ACHE - ACEE|ARACHE|N-ACHE|YT MIM:100740|HGNC:HGNC:108|Ensembl:ENSG00000087085|HPRD:00010|Vega:OTTHUMG00000157033 7 7q22 acetylcholinesterase (Yt blood group) protein-coding ACHE acetylcholinesterase (Yt blood group) O Yt blood group|acetylcholinesterase|apoptosis-related acetylcholinesterase 20141207 9606 47 ACLY - ACL|ATPCL|CLATP MIM:108728|HGNC:HGNC:115|Ensembl:ENSG00000131473|HPRD:00155|Vega:OTTHUMG00000133507 17 17q21.2 ATP citrate lyase protein-coding ACLY ATP citrate lyase O ATP citrate synthase|ATP-citrate (pro-S-)-lyase|ATP-citrate synthase|citrate cleavage enzyme 20141207 9606 48 ACO1 RP11-334P12.1 ACONS|HEL60|IREB1|IREBP|IREBP1|IRP1 MIM:100880|HGNC:HGNC:117|Ensembl:ENSG00000122729|HPRD:00013|Vega:OTTHUMG00000019740 9 9p21.1 aconitase 1, soluble protein-coding ACO1 aconitase 1, soluble O IRE-BP 1|aconitate hydratase, cytoplasmic|citrate hydro-lyase|cytoplasmic aconitate hydratase|epididymis luminal protein 60|ferritin repressor protein|iron regulatory protein 1|iron-responsive element binding protein 1|iron-responsive element-binding protein 1 20141207 9606 50 ACO2 RP3-347H13.8 ACONM|ICRD MIM:100850|HGNC:HGNC:118|Ensembl:ENSG00000100412|HPRD:00012|Vega:OTTHUMG00000030544 22 22q13.2 aconitase 2, mitochondrial protein-coding ACO2 aconitase 2, mitochondrial O aconitate hydratase, mitochondrial|citrate hydro-lyase 20141207 9606 51 ACOX1 - ACOX|PALMCOX|SCOX MIM:609751|HGNC:HGNC:119|Ensembl:ENSG00000161533|HPRD:02030|Vega:OTTHUMG00000180027 17 17q25.1 acyl-CoA oxidase 1, palmitoyl protein-coding ACOX1 acyl-CoA oxidase 1, palmitoyl O AOX|acyl-CoA oxidase, straight-chain|acyl-Coenzyme A oxidase 1, palmitoyl|palmitoyl-CoA oxidase|peroxisomal acyl-coenzyme A oxidase 1|peroxisomal fatty acyl-CoA oxidase|straight-chain acyl-CoA oxidase 20141207 9606 52 ACP1 - HAAP MIM:171500|HGNC:HGNC:122|Ensembl:ENSG00000143727|HPRD:08881|Vega:OTTHUMG00000086933 2 2p25 acid phosphatase 1, soluble protein-coding ACP1 acid phosphatase 1, soluble O LMW-PTP|LMW-PTPase|acid phosphatase of erythrocyte|adipocyte acid phosphatase|cytoplasmic phosphotyrosyl protein phosphatase|low molecular weight cytosolic acid phosphatase|low molecular weight phosphotyrosine protein phosphatase|protein tyrosine phosphatase|red cell acid phosphatase 1 20141207 9606 53 ACP2 - LAP MIM:171650|HGNC:HGNC:123|Ensembl:ENSG00000134575|HPRD:01375|Vega:OTTHUMG00000166949 11 11p11.2|11p12-p11 acid phosphatase 2, lysosomal protein-coding ACP2 acid phosphatase 2, lysosomal O lysosomal acid phosphatase 20141207 9606 54 ACP5 - SPENCDI|TRAP MIM:171640|HGNC:HGNC:124|Ensembl:ENSG00000102575|HPRD:01374|Vega:OTTHUMG00000182036 19 19p13.2 acid phosphatase 5, tartrate resistant protein-coding ACP5 acid phosphatase 5, tartrate resistant O TrATPase|tartrate-resistant acid ATPase|tartrate-resistant acid phosphatase type 5 20141207 9606 55 ACPP - 5'-NT|ACP-3|ACP3 MIM:171790|HGNC:HGNC:125|Ensembl:ENSG00000014257|HPRD:01378|Vega:OTTHUMG00000159650 3 3q22.1 acid phosphatase, prostate protein-coding ACPP acid phosphatase, prostate O 5'-nucleotidase|TMPase|ecto-5'-nucleotidase|prostatic acid phosphatase|prostatic acid phosphotase|thiamine monophosphatase 20141207 9606 60 ACTB - BRWS1|PS1TP5BP1 MIM:102630|HGNC:HGNC:132|Ensembl:ENSG00000075624|HPRD:00032|Vega:OTTHUMG00000023268 7 7p22 actin, beta protein-coding ACTB actin, beta O PS1TP5-binding protein 1|actin, cytoplasmic 1|beta cytoskeletal actin 20141207 9606 95 ACY1 - ACY-1|ACY1D|HEL-S-5 MIM:104620|HGNC:HGNC:177|Ensembl:ENSG00000114786|Ensembl:ENSG00000243989|HPRD:00092|Vega:OTTHUMG00000157815|Vega:OTTHUMG00000166447 3 3p21.1 aminoacylase 1 protein-coding ACY1 aminoacylase 1 O N-acyl-L-amino-acid amidohydrolase|acylase|aminoacylase-1|epididymis secretory protein Li 5 20141207 9606 97 ACYP1 - ACYPE MIM:600875|HGNC:HGNC:179|Ensembl:ENSG00000119640|HPRD:02928|Vega:OTTHUMG00000171767 14 14q24.3 acylphosphatase 1, erythrocyte (common) type protein-coding ACYP1 acylphosphatase 1, erythrocyte (common) type O acylphosphatase, erythrocyte isozyme|acylphosphatase, organ-common type isozyme|acylphosphatase-1|acylphosphate phosphohydrolase 1 20141207 9606 98 ACYP2 - ACYM|ACYP MIM:102595|HGNC:HGNC:180|Ensembl:ENSG00000170634|HPRD:00028|Vega:OTTHUMG00000129287 2 2p16.2 acylphosphatase 2, muscle type protein-coding ACYP2 acylphosphatase 2, muscle type O acylphosphatase, muscle type isozyme|acylphosphatase-2|acylphosphate phosphohydrolase 2 20141207 9606 100 ADA - - MIM:608958|HGNC:HGNC:186|Ensembl:ENSG00000196839|HPRD:00038|Vega:OTTHUMG00000033081 20 20q13.12 adenosine deaminase protein-coding ADA adenosine deaminase O adenosine aminohydrolase 20141221 9606 107 ADCY1 - AC1|DFNB44 MIM:103072|HGNC:HGNC:232|Ensembl:ENSG00000164742|HPRD:00053|Vega:OTTHUMG00000155420 7 7p13-p12 adenylate cyclase 1 (brain) protein-coding ADCY1 adenylate cyclase 1 (brain) O 3',5'-cyclic AMP synthetase|ATP pyrophosphate-lyase 1|Ca(2+)/calmodulin-activated adenylyl cyclase|adenyl cyclase|adenylate cyclase type 1|adenylate cyclase type I|adenylyl cyclase 1 20141207 9606 108 ADCY2 - AC2|HBAC2 MIM:103071|HGNC:HGNC:233|Ensembl:ENSG00000078295|HPRD:00052|Vega:OTTHUMG00000090476 5 5p15.3 adenylate cyclase 2 (brain) protein-coding ADCY2 adenylate cyclase 2 (brain) O 3',5'-cyclic AMP synthetase|ATP pyrophosphate-lyase 2|adenylate cyclase II|adenylate cyclase type 2|adenylate cyclase type II|adenylyl cyclase 2|type II adenylate cyclase 20141207 9606 109 ADCY3 - AC3 MIM:600291|HGNC:HGNC:234|Ensembl:ENSG00000138031|HPRD:02620|Vega:OTTHUMG00000094765 2 2p23.3 adenylate cyclase 3 protein-coding ADCY3 adenylate cyclase 3 O AC-III|ATP pyrophosphate-lyase 3|adenylate cyclase type 3|adenylate cyclase type III|adenylate cyclase, olfactive type|adenylyl cyclase 3|adenylyl cyclase, type III 20141207 9606 111 ADCY5 - AC5|FDFM MIM:600293|HGNC:HGNC:236|Ensembl:ENSG00000173175|HPRD:08973|Vega:OTTHUMG00000159517 3 3q21.1 adenylate cyclase 5 protein-coding ADCY5 adenylate cyclase 5 O ATP pyrophosphate-lyase 5|adenylate cyclase type 5|adenylate cyclase type V|adenylyl cyclase 5 20141219 9606 112 ADCY6 - AC6 MIM:600294|HGNC:HGNC:237|Ensembl:ENSG00000174233|HPRD:02621|Vega:OTTHUMG00000170396 12 12q12-q13 adenylate cyclase 6 protein-coding ADCY6 adenylate cyclase 6 O ATP pyrophosphate-lyase 6|adenylate cyclase type 6|adenylate cyclase type VI|adenylyl cyclase 6|ca(2+)-inhibitable adenylyl cyclase 20141222 9606 113 ADCY7 - AC7 MIM:600385|HGNC:HGNC:238|Ensembl:ENSG00000121281|HPRD:02663|Vega:OTTHUMG00000133172 16 16q12.1 adenylate cyclase 7 protein-coding ADCY7 adenylate cyclase 7 O ATP pyrophosphate-lyase 7|adenylate cyclase type 7|adenylate cyclase type VII|adenylyl cyclase 7 20141207 9606 114 ADCY8 - AC8|ADCY3|HBAC1 MIM:103070|HGNC:HGNC:239|Ensembl:ENSG00000155897|HPRD:00051|Vega:OTTHUMG00000164756 8 8q24 adenylate cyclase 8 (brain) protein-coding ADCY8 adenylate cyclase 8 (brain) O ATP pyrophosphate-lyase 8|adenylate cyclase type 8|adenylate cyclase type VIII|adenylyl cyclase 8|adenylyl cyclase-8, brain|ca(2+)/calmodulin-activated adenylyl cyclase 20141222 9606 115 ADCY9 - AC9 MIM:603302|HGNC:HGNC:240|Ensembl:ENSG00000162104|HPRD:04489|Vega:OTTHUMG00000177612 16 16p13.3 adenylate cyclase 9 protein-coding ADCY9 adenylate cyclase 9 O ATP pyrophosphate-lyase 9|adenylate cyclase type 9|adenylate cyclase type IX|adenylyl cyclase 9|type IX ATP pyrophosphate-lyase 20141207 9606 123 PLIN2 RP11-151J10.1 ADFP|ADRP MIM:103195|HGNC:HGNC:248|Ensembl:ENSG00000147872|HPRD:00057|Vega:OTTHUMG00000019624 9 9p22.1 perilipin 2 protein-coding PLIN2 perilipin 2 O adipophilin|adipose differentiation-related protein|perilipin-2 20141207 9606 124 ADH1A - ADH1 MIM:103700|HGNC:HGNC:249|Ensembl:ENSG00000187758|HPRD:00063|Vega:OTTHUMG00000131026 4 4q23 alcohol dehydrogenase 1A (class I), alpha polypeptide protein-coding ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide O ADH, alpha subunit|alcohol dehydrogenase 1 (class I), alpha polypeptide|alcohol dehydrogenase 1A|alcohol dehydrogenase subunit alpha|aldehyde reductase 20141207 9606 125 ADH1B - ADH2|HEL-S-117 MIM:103720|HGNC:HGNC:250|Ensembl:ENSG00000196616|HPRD:00065 4 4q23 alcohol dehydrogenase 1B (class I), beta polypeptide protein-coding ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide O ADH, beta subunit|alcohol dehydrogenase 1B|alcohol dehydrogenase 2 (class I), beta polypeptide|alcohol dehydrogenase subunit beta|aldehyde reductase|epididymis secretory protein Li 117 20141207 9606 126 ADH1C - ADH3 MIM:103730|HGNC:HGNC:251|Ensembl:ENSG00000248144|HPRD:00066|Vega:OTTHUMG00000161422 4 4q23 alcohol dehydrogenase 1C (class I), gamma polypeptide protein-coding ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide O ADH, gamma subunit|alcohol dehydrogenase 1C|alcohol dehydrogenase 3 (class I), gamma polypeptide|aldehyde reductase 20141207 9606 127 ADH4 - ADH-2|HEL-S-4 MIM:103740|HGNC:HGNC:252|Ensembl:ENSG00000198099|HPRD:00068|Vega:OTTHUMG00000161227 4 4q22 alcohol dehydrogenase 4 (class II), pi polypeptide protein-coding ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide O alcohol dehydrogenase 4|alcohol dehydrogenase class II pi chain|aldehyde reductase|epididymis secretory protein Li 4 20141207 9606 128 ADH5 - ADH-3|ADHX|FALDH|FDH|GSH-FDH|GSNOR MIM:103710|HGNC:HGNC:253|Ensembl:ENSG00000197894|HPRD:00064|Vega:OTTHUMG00000161230 4 4q23 alcohol dehydrogenase 5 (class III), chi polypeptide protein-coding ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide O S-(hydroxymethyl)glutathione dehydrogenase|alcohol dehydrogenase (class III), chi polypeptide|alcohol dehydrogenase class chi chain|alcohol dehydrogenase class-3|alcohol dehydrogenase class-III|formaldehyde dehydrogenase|glutathione-dependent formaldehyde dehydrogenase 20141207 9606 130 ADH6 - ADH-5 MIM:103735|HGNC:HGNC:255|Ensembl:ENSG00000172955|HPRD:00067|Vega:OTTHUMG00000131024 4 4q23 alcohol dehydrogenase 6 (class V) protein-coding ADH6 alcohol dehydrogenase 6 (class V) O alcohol dehydrogenase 6|aldehyde reductase 20141207 9606 131 ADH7 - ADH4 MIM:600086|HGNC:HGNC:256|Ensembl:ENSG00000196344|HPRD:02515|Vega:OTTHUMG00000159318 4 4q23-q24 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide protein-coding ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide O alcohol dehydrogenase VII|alcohol dehydrogenase class 4 mu/sigma chain|alcohol dehydrogenase class IV mu/sigma chain|alcohol dehydrogenase-7|class IV sigma-1 alcohol dehydrogenase|class IV sigmasigma alcohol dehydrogenase|gastric alcohol dehydrogenase|retinol dehydrogenase 20141222 9606 132 ADK - AK MIM:102750|HGNC:HGNC:257|Ensembl:ENSG00000156110|HPRD:00039|Vega:OTTHUMG00000018506 10 10q22|10q11-q24 adenosine kinase protein-coding ADK adenosine kinase O adenosine 5'-phosphotransferase 20141207 9606 150 ADRA2A - ADRA2|ADRA2R|ADRAR|ALPHA2AAR|ZNF32 MIM:104210|HGNC:HGNC:281|Ensembl:ENSG00000150594|HPRD:00078|Vega:OTTHUMG00000019050 10 10q25.2 adrenoceptor alpha 2A protein-coding ADRA2A adrenoceptor alpha 2A O adrenergic, alpha-2A-, receptor|alpha-2 adrenergic receptor subtype C10|alpha-2-adrenergic receptor, platelet type|alpha-2A adrenergic receptor|alpha-2A adrenoceptor|alpha-2A adrenoreceptor|alpha-2AAR subtype C10 20141207 9606 158 ADSL RP5-1042K10.8 AMPS|ASASE|ASL MIM:608222|HGNC:HGNC:291|Ensembl:ENSG00000239900|HPRD:00049|Vega:OTTHUMG00000166425 22 22q13.2 adenylosuccinate lyase protein-coding ADSL adenylosuccinate lyase O adenylosuccinase 20141207 9606 159 ADSS RP11-518L10.4 ADEH|ADSS 2 MIM:103060|HGNC:HGNC:292|Ensembl:ENSG00000035687|HPRD:00050|Vega:OTTHUMG00000040102 1 1q44 adenylosuccinate synthase protein-coding ADSS adenylosuccinate synthase O AMPSase 2|IMP--aspartate ligase 2|L-type adenylosuccinate synthetase|adSS 2|adenylosuccinate synthetase (Ade(-)H-complementing)|adenylosuccinate synthetase isozyme 2|adenylosuccinate synthetase, acidic isozyme|adenylosuccinate synthetase, liver isozyme 20141207 9606 176 ACAN - AGC1|AGCAN|CSPG1|CSPGCP|MSK16|SEDK MIM:155760|HGNC:HGNC:319|Ensembl:ENSG00000157766|HPRD:01123|Vega:OTTHUMG00000171989 15 15q26.1 aggrecan protein-coding ACAN aggrecan O aggrecan core protein|cartilage-specific proteoglycan core protein|chondroitin sulfate proteoglycan core protein 1|large aggregating proteoglycan 20141222 9606 178 AGL - GDE MIM:610860|HGNC:HGNC:321|Ensembl:ENSG00000162688|HPRD:01984|Vega:OTTHUMG00000010803 1 1p21 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase protein-coding AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase O amylo-1, 6-glucosidase, 4-alpha-glucanotransferase|glycogen debrancher|glycogen debranching enzyme 20141219 9606 183 AGT - ANHU|SERPINA8 MIM:106150|HGNC:HGNC:333|Ensembl:ENSG00000135744|HPRD:00106|Vega:OTTHUMG00000037757 1 1q42.2 angiotensinogen (serpin peptidase inhibitor, clade A, member 8) protein-coding AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) O alpha-1 antiproteinase, antitrypsin|angiotensin I|angiotensin II|angiotensinogen|pre-angiotensinogen|serine (or cysteine) proteinase inhibitor|serpin A8 20141222 9606 189 AGXT - AGT|AGT1|AGXT1|PH1|SPAT|SPT|TLH6 MIM:604285|HGNC:HGNC:341|Ensembl:ENSG00000172482|HPRD:05048|Vega:OTTHUMG00000133354 2 2q37.3 alanine-glyoxylate aminotransferase protein-coding AGXT alanine-glyoxylate aminotransferase O L-alanine: glyoxylate aminotransferase 1|alanine--glyoxylate aminotransferase|hepatic peroxisomal alanine:glyoxylate aminotransferase|serine--pyruvate aminotransferase|serine-pyruvate aminotransferase|serine:pyruvate aminotransferase 20141222 9606 191 AHCY - SAHH|adoHcyase MIM:180960|HGNC:HGNC:343|Ensembl:ENSG00000101444|HPRD:01621|Vega:OTTHUMG00000140098 20 20q11.22 adenosylhomocysteinase protein-coding AHCY adenosylhomocysteinase O S-adenosyl-L-homocysteine hydrolase|S-adenosylhomocysteine hydrolase 20141207 9606 203 AK1 RP11-203J24.1 HTL-S-58j MIM:103000|HGNC:HGNC:361|Ensembl:ENSG00000106992|HPRD:00046|Vega:OTTHUMG00000020722 9 9q34.1 adenylate kinase 1 protein-coding AK1 adenylate kinase 1 O AK 1|ATP-AMP transphosphorylase 1|ATP:AMP phosphotransferase|adenylate kinase isoenzyme 1|adenylate monophosphate kinase|myokinase|testis secretory sperm binding protein Li 58j 20141207 9606 204 AK2 - ADK2|AK 2 MIM:103020|HGNC:HGNC:362|Ensembl:ENSG00000004455|HPRD:00047|Vega:OTTHUMG00000004131 1 1p34 adenylate kinase 2 protein-coding AK2 adenylate kinase 2 O AK 2|ATP-AMP transphosphorylase 2|ATP:AMP phosphotransferase|adenylate kinase 2, mitochondrial|adenylate kinase isoenzyme 2, mitochondrial|adenylate monophosphate kinase 20141207 9606 205 AK4 RP4-686B20.1 AK 4|AK3|AK3L1|AK3L2 MIM:103030|HGNC:HGNC:363|Ensembl:ENSG00000162433|HPRD:00048|Vega:OTTHUMG00000009033 1 1p31.3 adenylate kinase 4 protein-coding AK4 adenylate kinase 4 O AK 4|ATP-AMP transphosphorylase|GTP:AMP phosphotransferase AK4, mitochondrial|adenylate kinase 3-like 1|adenylate kinase 4, mitochondrial|adenylate kinase isoenzyme 4, mitochondrial|mitochondrial adenylate kinase-3|nucleoside-triphosphate-adenylate kinase 20141207 9606 207 AKT1 - AKT|CWS6|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHA MIM:164730|HGNC:HGNC:391|Ensembl:ENSG00000142208|HPRD:01261|Vega:OTTHUMG00000170795 14 14q32.32 v-akt murine thymoma viral oncogene homolog 1 protein-coding AKT1 v-akt murine thymoma viral oncogene homolog 1 O AKT1m|PKB alpha|RAC-PK-alpha|RAC-alpha serine/threonine-protein kinase|protein kinase B alpha|proto-oncogene c-Akt|rac protein kinase alpha 20141222 9606 210 ALAD RP11-10I9.1 ALADH|PBGS MIM:125270|HGNC:HGNC:395|Ensembl:ENSG00000148218|HPRD:00504|Vega:OTTHUMG00000020522 9 9q33.1 aminolevulinate dehydratase protein-coding ALAD aminolevulinate dehydratase O aminolevulinate, delta-, dehydratase|delta-aminolevulinic acid dehydratase|porphobilinogen synthase 20141207 9606 211 ALAS1 OK/SW-cl.121 ALAS|ALAS3|ALASH|MIG4 MIM:125290|HGNC:HGNC:396|Ensembl:ENSG00000023330|HPRD:00505|Vega:OTTHUMG00000158108 3 3p21.1 5'-aminolevulinate synthase 1 protein-coding ALAS1 5'-aminolevulinate synthase 1 O 5-aminolevulinate synthase, nonspecific, mitochondrial|5-aminolevulinic acid synthase 1|ALAS-H|aminolevulinate, delta-, synthase 1|delta-ALA synthase 1|delta-aminolevulinate synthase 1|migration-inducing protein 4 20141207 9606 212 ALAS2 RP5-884M20.1 ALAS-E|ALASE|ANH1|ASB|XLDPP|XLEPP|XLSA MIM:301300|HGNC:HGNC:397|Ensembl:ENSG00000158578|HPRD:02356|Vega:OTTHUMG00000021641 X Xp11.21 5'-aminolevulinate synthase 2 protein-coding ALAS2 5'-aminolevulinate synthase 2 O 5-aminolevulinate synthase, erythroid-specific, mitochondrial|5-aminolevulinic acid synthase 2|aminolevulinate, delta-, synthase 2|delta-ALA synthase 2|delta-ALA synthetase|delta-aminolevulinate synthase 2 20141219 9606 213 ALB GIG20 ANALBA|FDAH|PRO0883|PRO0903|PRO1341 MIM:103600|HGNC:HGNC:399|Ensembl:ENSG00000163631|HPRD:00062|Vega:OTTHUMG00000129919 4 4q13.3 albumin protein-coding ALB albumin O albumin (32 AA)|albumin (AA 34)|cell growth inhibiting protein 42|growth-inhibiting protein 20|serum albumin 20141207 9606 215 ABCD1 - ABC42|ALD|ALDP|AMN MIM:300371|HGNC:HGNC:61|Ensembl:ENSG00000101986|HPRD:02300|Vega:OTTHUMG00000024215 X Xq28 ATP-binding cassette, sub-family D (ALD), member 1 protein-coding ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 O ATP-binding cassette sub-family D member 1|adrenoleukodystrophy protein 20141219 9606 216 ALDH1A1 RP11-151D14.2 ALDC|ALDH-E1|ALDH1|ALDH11|HEL-9|HEL-S-53e|HEL12|PUMB1|RALDH1 MIM:100640|HGNC:HGNC:402|Ensembl:ENSG00000165092|HPRD:00001|Vega:OTTHUMG00000020019 9 9q21.13 aldehyde dehydrogenase 1 family, member A1 protein-coding ALDH1A1 aldehyde dehydrogenase 1 family, member A1 O ALDH class 1|ALHDII|RALDH 1|acetaldehyde dehydrogenase 1|aldehyde dehydrogenase 1, soluble|aldehyde dehydrogenase, liver cytosolic|epididymis luminal protein 12|epididymis luminal protein 9|epididymis secretory sperm binding protein Li 53e|retinal dehydrogenase 1|retinaldehyde dehydrogenase 1 20141222 9606 217 ALDH2 - ALDH-E2|ALDHI|ALDM MIM:100650|HGNC:HGNC:404|Ensembl:ENSG00000111275|HPRD:00003|Vega:OTTHUMG00000169603 12 12q24.2 aldehyde dehydrogenase 2 family (mitochondrial) protein-coding ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) O ALDH class 2|acetaldehyde dehydrogenase 2|aldehyde dehydrogenase, mitochondrial|liver mitochondrial ALDH|nucleus-encoded mitochondrial aldehyde dehydrogenase 2 20141222 9606 218 ALDH3A1 - ALDH3|ALDHIII MIM:100660|HGNC:HGNC:405|Ensembl:ENSG00000108602|HPRD:00004|Vega:OTTHUMG00000059469 17 17p11.2 aldehyde dehydrogenase 3 family, member A1 protein-coding ALDH3A1 aldehyde dehydrogenase 3 family, member A1 O aldehyde dehydrogenase isozyme 3|aldehyde dehydrogenase type III|aldehyde dehydrogenase, dimeric NADP-preferring|stomach aldehyde dehydrogenase 20141207 9606 219 ALDH1B1 - ALDH5|ALDHX MIM:100670|HGNC:HGNC:407|Ensembl:ENSG00000137124|HPRD:00005|Vega:OTTHUMG00000019938 9 9p11.1 aldehyde dehydrogenase 1 family, member B1 protein-coding ALDH1B1 aldehyde dehydrogenase 1 family, member B1 O ALDH class 2|acetaldehyde dehydrogenase 5|aldehyde dehydrogenase 5|aldehyde dehydrogenase X, mitochondrial 20141222 9606 220 ALDH1A3 RP11-66B24.1 ALDH1A6|ALDH6|MCOP8|RALDH3 MIM:600463|HGNC:HGNC:409|Ensembl:ENSG00000184254|HPRD:02713|Vega:OTTHUMG00000186439 15 15q26.3 aldehyde dehydrogenase 1 family, member A3 protein-coding ALDH1A3 aldehyde dehydrogenase 1 family, member A3 O acetaldehyde dehydrogenase 6|aldehyde dehydrogenase 6|aldehyde dehydrogenase family 1 member A3|retinaldehyde dehydrogenase 3 20141207 9606 221 ALDH3B1 - ALDH4|ALDH7 MIM:600466|HGNC:HGNC:410|Ensembl:ENSG00000006534|HPRD:02716|Vega:OTTHUMG00000154910 11 11q13 aldehyde dehydrogenase 3 family, member B1 protein-coding ALDH3B1 aldehyde dehydrogenase 3 family, member B1 O aldehyde dehydrogenase 3B1|aldehyde dehydrogenase 7|aldehyde dehydrogenase family 3 member B1 20141207 9606 222 ALDH3B2 - ALDH8 MIM:601917|HGNC:HGNC:411|Ensembl:ENSG00000132746|HPRD:03559|Vega:OTTHUMG00000167284 11 11q13 aldehyde dehydrogenase 3 family, member B2 protein-coding ALDH3B2 aldehyde dehydrogenase 3 family, member B2 O acetaldehyde dehydrogenase 8|aldehyde dehydrogenase 8|aldehyde dehydrogenase family 3 member B2 20141207 9606 223 ALDH9A1 - ALDH4|ALDH7|ALDH9|E3|TMABADH MIM:602733|HGNC:HGNC:412|Ensembl:ENSG00000143149|HPRD:04109|Vega:OTTHUMG00000034677 1 1q23.1 aldehyde dehydrogenase 9 family, member A1 protein-coding ALDH9A1 aldehyde dehydrogenase 9 family, member A1 O 4-trimethylaminobutyraldehyde dehydrogenase|R-aminobutyraldehyde dehydrogenase|aldehyde dehydrogenase (NAD+)|aldehyde dehydrogenase E3 isozyme|aldehyde dehydrogenase family 9 member A1|gamma-aminobutyraldehyde dehydrogenase 20141207 9606 224 ALDH3A2 - ALDH10|FALDH|SLS MIM:609523|HGNC:HGNC:403|Ensembl:ENSG00000072210|HPRD:07188|Vega:OTTHUMG00000059471 17 17p11.2 aldehyde dehydrogenase 3 family, member A2 protein-coding ALDH3A2 aldehyde dehydrogenase 3 family, member A2 O aldehyde dehydrogenase 10|aldehyde dehydrogenase family 3 member A2|fatty aldehyde dehydrogenase|microsomal aldehyde dehydrogenase 20141207 9606 226 ALDOA - ALDA|GSD12|HEL-S-87p MIM:103850|HGNC:HGNC:414|Ensembl:ENSG00000149925|HPRD:00070|Vega:OTTHUMG00000132107 16 16p11.2 aldolase A, fructose-bisphosphate protein-coding ALDOA aldolase A, fructose-bisphosphate O epididymis secretory sperm binding protein Li 87p|fructose-1,6-bisphosphate triosephosphate-lyase|fructose-bisphosphate aldolase A|lung cancer antigen NY-LU-1|muscle-type aldolase 20141207 9606 229 ALDOB RP11-490D19.1 ALDB|ALDO2 MIM:612724|HGNC:HGNC:417|Ensembl:ENSG00000136872|HPRD:01972|Vega:OTTHUMG00000020378 9 9q21.3-q22.2 aldolase B, fructose-bisphosphate protein-coding ALDOB aldolase B, fructose-bisphosphate O aldolase 2|aldolase B, fructose-bisphosphatase|fructose-bisphosphate aldolase B|liver-type aldolase 20141207 9606 230 ALDOC - ALDC MIM:103870|HGNC:HGNC:418|Ensembl:ENSG00000109107|HPRD:02386|Vega:OTTHUMG00000132605 17 17cen-q12 aldolase C, fructose-bisphosphate protein-coding ALDOC aldolase C, fructose-bisphosphate O aldolase 3|brain-type aldolase|fructoaldolase C|fructose-1,6-biphosphate triosephosphate lyase|fructose-bisphosphate aldolase C 20141207 9606 231 AKR1B1 - ADR|ALDR1|ALR2|AR MIM:103880|HGNC:HGNC:381|Ensembl:ENSG00000085662|HPRD:00071|Vega:OTTHUMG00000155322 7 7q35 aldo-keto reductase family 1, member B1 (aldose reductase) protein-coding AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) O Lii5-2 CTCL tumor antigen|aldehyde reductase 1|aldo-keto reductase family 1 member B1|aldose reductase|low Km aldose reductase 20141207 9606 239 ALOX12 - 12-LOX|12S-LOX|LOG12 MIM:152391|HGNC:HGNC:429|Ensembl:ENSG00000108839|HPRD:01066|Vega:OTTHUMG00000102088 17 17p13.1 arachidonate 12-lipoxygenase protein-coding ALOX12 arachidonate 12-lipoxygenase O 12(S)-lipoxygenase|12S-lipoxygenase|arachidonate 12-lipoxygenase, 12S-type|lipoxin synthase 12-LO|platelet 12-LOX|platelet-type 12-lipoxygenase|platelet-type lipoxygenase 12 20141211 9606 240 ALOX5 RP11-67C2.3 5-LO|5-LOX|5LPG|LOG5 MIM:152390|HGNC:HGNC:435|Ensembl:ENSG00000012779|HPRD:01065|Vega:OTTHUMG00000018081 10 10q11.2 arachidonate 5-lipoxygenase protein-coding ALOX5 arachidonate 5-lipoxygenase O LOX-5|arachidonic 5-lipoxygenase alpha-10 isoform|arachidonic 5-lipoxygenase delta-10-13 isoform|arachidonic 5-lipoxygenase delta-13 isoform|arachidonic 5-lipoxygenase delta-p10 isoform|arachidonic acid 5-lipoxygenase|leukotriene A4 synthase 20141207 9606 242 ALOX12B - 12R-LOX|ARCI2 MIM:603741|HGNC:HGNC:430|Ensembl:ENSG00000179477|HPRD:04772|Vega:OTTHUMG00000108180 17 17p13.1 arachidonate 12-lipoxygenase, 12R type protein-coding ALOX12B arachidonate 12-lipoxygenase, 12R type O 12R-lipoxygenase|arachidonate 12-lipoxygenase, 12R-type|epidermis-type lipoxygenase 12 20141219 9606 246 ALOX15 - 12-LOX|15-LOX-1|15LOX-1 MIM:152392|HGNC:HGNC:433|Ensembl:ENSG00000161905|HPRD:01067|Vega:OTTHUMG00000090746 17 17p13.3 arachidonate 15-lipoxygenase protein-coding ALOX15 arachidonate 15-lipoxygenase O 12/15-lipoxygenase|15-LOX|15-lipooxygenase-1|arachidonate 12-lipoxygenase, leukocyte-type|arachidonate omega-6 lipoxygenase 20141222 9606 247 ALOX15B - 15-LOX-2 MIM:603697|HGNC:HGNC:434|Ensembl:ENSG00000179593|HPRD:04739|Vega:OTTHUMG00000108181 17 17p13.1 arachidonate 15-lipoxygenase, type B protein-coding ALOX15B arachidonate 15-lipoxygenase, type B O 15-LOX-B|15S-lipoxygenase|arachidonate 15-lipoxygenase 2|arachidonate 15-lipoxygenase B|arachidonate 15-lipoxygenase type II|arachidonate 15-lipoxygenase, second type|arachidonate omega(6) lipoxygenase|linoleate 13-lipoxygenase 15-LOb 20141207 9606 262 AMD1 RP11-397G5.3 ADOMETDC|AMD|SAMDC MIM:180980|HGNC:HGNC:457|Ensembl:ENSG00000123505|HPRD:01622|Vega:OTTHUMG00000015369 6 6q21 adenosylmethionine decarboxylase 1 protein-coding AMD1 adenosylmethionine decarboxylase 1 O S-adenosylmethionine decarboxylase 1|S-adenosylmethionine decarboxylase proenzyme 20141207 9606 270 AMPD1 RP5-1000E10.1 MAD|MADA|MMDD MIM:102770|HGNC:HGNC:468|Ensembl:ENSG00000116748|HPRD:00040|Vega:OTTHUMG00000011892 1 1p13 adenosine monophosphate deaminase 1 protein-coding AMPD1 adenosine monophosphate deaminase 1 O AMP deaminase 1|AMPD|adenosine monophosphate deaminase 1 (isoform M)|adenosine monophosphate deaminase-1 (muscle)|myoadenylate deaminase|skeletal muscle AMPD 20141207 9606 271 AMPD2 RP5-1160K1.5 PCH9|SPG63 MIM:102771|HGNC:HGNC:469|Ensembl:ENSG00000116337|HPRD:11808|Vega:OTTHUMG00000011649 1 1p13.3 adenosine monophosphate deaminase 2 protein-coding AMPD2 adenosine monophosphate deaminase 2 O AMP deaminase 2|AMPD|adenosine monophosphate deaminase 2 (isoform L) 20141207 9606 272 AMPD3 - - MIM:102772|HGNC:HGNC:470|Ensembl:ENSG00000133805|HPRD:00041|Vega:OTTHUMG00000165682 11 11p15 adenosine monophosphate deaminase 3 protein-coding AMPD3 adenosine monophosphate deaminase 3 O AMP aminohydrolase|AMP deaminase 3|adenosine monophosphate deaminase (isoform E)|erythrocyte AMP deaminase|erythrocyte type AMP deaminase|erythrocyte-specific AMP deaminase|myoadenylate deaminase 20141207 9606 275 AMT - GCE|GCST|GCVT|NKH MIM:238310|HGNC:HGNC:473|Ensembl:ENSG00000145020|HPRD:01997|Vega:OTTHUMG00000156847 3 3p21.31 aminomethyltransferase protein-coding AMT aminomethyltransferase O aminomethyltransferase, mitochondrial|glycine cleavage system T protein 20141219 9606 276 AMY1A - AMY1 MIM:104700|HGNC:HGNC:474|Ensembl:ENSG00000237763|HPRD:00096|Vega:OTTHUMG00000011020 1 1p21 amylase, alpha 1A (salivary) protein-coding AMY1A amylase, alpha 1A (salivary) O 1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|amylase, salivary, alpha-1A|glycogenase|salivary alpha-amylase|salivary amylase alpha 1A 20141207 9606 277 AMY1B RP11-508C1.1 AMY1 MIM:104701|HGNC:HGNC:475|Ensembl:ENSG00000174876|HPRD:18510|Vega:OTTHUMG00000011021 1 1p21 amylase, alpha 1B (salivary) protein-coding AMY1B amylase, alpha 1B (salivary) O 1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|amylase, salivary, alpha-1B|glycogenase|salivary alpha-amylase|salivary amylase alpha 1B 20141207 9606 278 AMY1C RP11-508C1.3 AMY1 MIM:104702|HGNC:HGNC:476|Ensembl:ENSG00000187733|HPRD:15911|Vega:OTTHUMG00000011045 1 1p21 amylase, alpha 1C (salivary) protein-coding AMY1C amylase, alpha 1C (salivary) O 1,4-alpha-D-glucan glucanohydrolase 1|alpha-amylase 1|amylase, salivary, alpha-1C|glycogenase|salivary alpha-amylase|salivary amylase alpha 1C 20141207 9606 279 AMY2A - AMY2|AMY2B|PA MIM:104650|HGNC:HGNC:477|Ensembl:ENSG00000243480|HPRD:00094|Vega:OTTHUMG00000011023 1 1p21 amylase, alpha 2A (pancreatic) protein-coding AMY2A amylase, alpha 2A (pancreatic) O 1,4-alpha-D-glucan glucanohydrolase|alpha-amylase|amylase, pancreatic, alpha-2A|found in the pancreas|glycogenase|pancreatic alpha-amylase|pancreatic amylase 2A|pancreatic amylase alpha 2A 20141207 9606 280 AMY2B - AMY2|AMY3|HXA MIM:104660|HGNC:HGNC:478|Ensembl:ENSG00000240038|HPRD:00095|Vega:OTTHUMG00000011024 1 1p21 amylase, alpha 2B (pancreatic) protein-coding AMY2B amylase, alpha 2B (pancreatic) O 1,4-alpha-D-glucan glucanohydrolase 2B|alpha-amylase 2B|carcinoid alpha-amylase|glycogenase 20141207 9606 290 ANPEP - APN|CD13|GP150|LAP1|P150|PEPN MIM:151530|HGNC:HGNC:500|Ensembl:ENSG00000166825|HPRD:01055|Vega:OTTHUMG00000149814 15 15q25-q26 alanyl (membrane) aminopeptidase protein-coding ANPEP alanyl (membrane) aminopeptidase O AP-M|AP-N|alanyl aminopeptidase|aminopeptidase M|aminopeptidase N|hAPN|microsomal aminopeptidase|myeloid plasma membrane glycoprotein CD13 20141211 9606 291 SLC25A4 - 1|AAC1|ANT|ANT 1|ANT1|MTDPS12|PEO2|PEO3|T1 MIM:103220|HGNC:HGNC:10990|Ensembl:ENSG00000151729|HPRD:00058|Vega:OTTHUMG00000134299 4 4q35 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 protein-coding SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 O ADP,ATP carrier protein 1|ADP,ATP carrier protein, heart/skeletal muscle|ADP/ATP translocase 1|adenine nucleotide translocator 1 (skeletal muscle)|heart/skeletal muscle ATP/ADP translocator|solute carrier family 25 member 4 20141207 9606 292 SLC25A5 - 2F1|AAC2|ANT2|T2|T3 MIM:300150|HGNC:HGNC:10991|Ensembl:ENSG00000005022|HPRD:02147|Vega:OTTHUMG00000022715 X Xq24 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 protein-coding SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 O ADP,ATP carrier protein 2|ADP,ATP carrier protein, fibroblast isoform|ADP/ATP carrier protein|ADP/ATP translocase 2|ANT 2|adenine nucleotide translocator 2 (fibroblast)|solute carrier family 25 member 5 20141207 9606 293 SLC25A6 RP11-261P4.6 2|3|AAC3|ANT|ANT 2|ANT 3|ANT3|ANT3Y MIM:300151|MIM:403000|HGNC:HGNC:10992|HPRD:02461 X|Y Xp22.32 and Yp11.3 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 protein-coding SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 O ADP,ATP carrier protein|ADP,ATP carrier protein 3|ADP,ATP carrier protein, liver|ADP/ATP translocase 3|ADP/ATP translocator of liver|adenine nucleotide translocator 3|solute carrier family 25 member 6 20141207 9606 314 AOC2 - DAO2|RAO MIM:602268|HGNC:HGNC:549|Ensembl:ENSG00000131480|HPRD:11889|Vega:OTTHUMG00000180655 17 17q21 amine oxidase, copper containing 2 (retina-specific) protein-coding AOC2 amine oxidase, copper containing 2 (retina-specific) O SSAO|retina-specific copper amine oxidase|semicarbazide-sensitive amine oxidase 20141207 9606 316 AOX1 - AO|AOH1 MIM:602841|HGNC:HGNC:553|Ensembl:ENSG00000138356|HPRD:07537|Vega:OTTHUMG00000154536 2 2q33 aldehyde oxidase 1 protein-coding AOX1 aldehyde oxidase 1 O aldehyde oxidase|azaheterocycle hydroxylase 20141207 9606 318 NUDT2 - APAH1 MIM:602852|HGNC:HGNC:8049|Ensembl:ENSG00000164978|HPRD:04168|Vega:OTTHUMG00000019817 9 9p13 nudix (nucleoside diphosphate linked moiety X)-type motif 2 protein-coding NUDT2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 O Ap4A hydrolase 1|Ap4Aase|bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)|bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]|diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase|diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase|diadenosine tetraphosphatase|nucleoside diphosphate-linked moiety X motif 2|nudix motif 2 20141207 9606 335 APOA1 - - MIM:107680|HGNC:HGNC:600|Ensembl:ENSG00000118137|HPRD:02517|Vega:OTTHUMG00000046112 11 11q23-q24 apolipoprotein A-I protein-coding APOA1 apolipoprotein A-I O apo-AI 20141222 9606 336 APOA2 - Apo-AII|ApoA-II|apoAII MIM:107670|HGNC:HGNC:601|Ensembl:ENSG00000158874|HPRD:00129|Vega:OTTHUMG00000034346 1 1q23.3 apolipoprotein A-II protein-coding APOA2 apolipoprotein A-II O apolipoprotein A2 20141207 9606 338 APOB - FLDB|LDLCQ4 MIM:107730|HGNC:HGNC:603|Ensembl:ENSG00000084674|HPRD:00133|Vega:OTTHUMG00000090785 2 2p24-p23 apolipoprotein B protein-coding APOB apolipoprotein B O apo B-100|apoB-100|apoB-48|apolipoprotein B (including Ag(x) antigen)|apolipoprotein B-100|apolipoprotein B48|mutant Apo B 100 20141222 9606 344 APOC2 - APO-CII|APOC-II MIM:608083|HGNC:HGNC:609|Ensembl:ENSG00000224916|HPRD:07457 19 19q13.2 apolipoprotein C-II protein-coding APOC2 apolipoprotein C-II O apolipoprotein C2 20141207 9606 345 APOC3 - APOCIII|HALP2 MIM:107720|HGNC:HGNC:610|Ensembl:ENSG00000110245|HPRD:00132|Vega:OTTHUMG00000046115 11 11q23.3 apolipoprotein C-III protein-coding APOC3 apolipoprotein C-III O apo-CIII|apoC-III|apolipoprotein C3 20141207 9606 348 APOE - AD2|APO-E|LDLCQ5|LPG MIM:107741|HGNC:HGNC:613|Ensembl:ENSG00000130203|HPRD:00135|Vega:OTTHUMG00000128901 19 19q13.2 apolipoprotein E protein-coding APOE apolipoprotein E O apolipoprotein E3 20141222 9606 353 APRT - AMP|APRTD MIM:102600|HGNC:HGNC:626|Ensembl:ENSG00000198931|HPRD:00029|Vega:OTTHUMG00000175454 16 16q24 adenine phosphoribosyltransferase protein-coding APRT adenine phosphoribosyltransferase O AMP diphosphorylase|AMP pyrophosphorylase|transphosphoribosidase 20141219 9606 375 ARF1 - - MIM:103180|HGNC:HGNC:652|Ensembl:ENSG00000143761|HPRD:00054|Vega:OTTHUMG00000037595 1 1q42 ADP-ribosylation factor 1 protein-coding ARF1 ADP-ribosylation factor 1 O - 20141207 9606 377 ARF3 - - MIM:103190|HGNC:HGNC:654|Ensembl:ENSG00000134287|HPRD:00056|Vega:OTTHUMG00000168080 12 12q13 ADP-ribosylation factor 3 protein-coding ARF3 ADP-ribosylation factor 3 O small GTP binding protein 20141207 9606 383 ARG1 - - MIM:608313|HGNC:HGNC:663|Ensembl:ENSG00000118520|HPRD:01947|Vega:OTTHUMG00000015566 6 6q23 arginase 1 protein-coding ARG1 arginase 1 O arginase, liver|arginase-1|liver-type arginase|type I arginase 20141219 9606 384 ARG2 - - MIM:107830|HGNC:HGNC:664|Ensembl:ENSG00000081181|HPRD:00143|Vega:OTTHUMG00000171807 14 14q24.1 arginase 2 protein-coding ARG2 arginase 2 O L-arginine amidinohydrolase|L-arginine ureahydrolase|arginase, type II|arginase-2, mitochondrial|kidney arginase|kidney-type arginase|non-hepatic arginase|nonhepatic arginase|type II arginase 20141207 9606 406 ARNTL - BMAL1|BMAL1c|JAP3|MOP3|PASD3|TIC|bHLHe5 MIM:602550|HGNC:HGNC:701|Ensembl:ENSG00000133794|HPRD:03973|Vega:OTTHUMG00000150623 11 11p15 aryl hydrocarbon receptor nuclear translocator-like protein-coding ARNTL aryl hydrocarbon receptor nuclear translocator-like O ARNT-like protein 1, brain and muscle|PAS domain-containing protein 3|aryl hydrocarbon receptor nuclear translocator-like protein 1|bHLH-PAS protein JAP3|basic-helix-loop-helix-PAS orphan MOP3|basic-helix-loop-helix-PAS protein MOP3|brain and muscle ARNT-like 1|class E basic helix-loop-helix protein 5|member of PAS protein 3|member of PAS superfamily 3 20141207 9606 410 ARSA - MLD MIM:607574|HGNC:HGNC:713|Ensembl:ENSG00000100299|HPRD:09617|Vega:OTTHUMG00000150180 22 22q13.33 arylsulfatase A protein-coding ARSA arylsulfatase A O ASA|cerebroside-sulfatase 20141219 9606 411 ARSB - ASB|G4S|MPS6 MIM:611542|HGNC:HGNC:714|Ensembl:ENSG00000113273|HPRD:08358|Vega:OTTHUMG00000108129 5 5q14.1 arylsulfatase B protein-coding ARSB arylsulfatase B O N-acetylgalactosamine-4-sulfatase 20141207 9606 412 STS - ARSC|ARSC1|ASC|ES|SSDD|XLI MIM:300747|HGNC:HGNC:11425|Ensembl:ENSG00000101846|HPRD:02389|Vega:OTTHUMG00000021102 X Xp22.32 steroid sulfatase (microsomal), isozyme S protein-coding STS steroid sulfatase (microsomal), isozyme S O arylsulfatase C|estrone sulfatase|steryl-sulfatase|steryl-sulfate sulfohydrolase 20141222 9606 415 ARSE - ASE|CDPX|CDPX1|CDPXR MIM:300180|HGNC:HGNC:719|Ensembl:ENSG00000157399|HPRD:02171|Vega:OTTHUMG00000137358 X Xp22.3 arylsulfatase E (chondrodysplasia punctata 1) protein-coding ARSE arylsulfatase E (chondrodysplasia punctata 1) O arylsulfatase E 20141219 9606 416 ARSF - ASF MIM:300003|HGNC:HGNC:721|Ensembl:ENSG00000062096|HPRD:02049|Vega:OTTHUMG00000021081 X Xp22.3 arylsulfatase F protein-coding ARSF arylsulfatase F O - 20141207 9606 427 ASAH1 HSD33 AC|ACDase|ASAH|PHP|PHP32|SMAPME MIM:613468|HGNC:HGNC:735|Ensembl:ENSG00000104763|HPRD:01969|Vega:OTTHUMG00000096997 8 8p22 N-acylsphingosine amidohydrolase (acid ceramidase) 1 protein-coding ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 O acid CDase|acid ceramidase|acylsphingosine deacylase|putative 32 kDa heart protein 20141207 9606 435 ASL - ASAL MIM:608310|HGNC:HGNC:746|Ensembl:ENSG00000126522|HPRD:01948|Vega:OTTHUMG00000022876 7 7q11.21 argininosuccinate lyase protein-coding ASL argininosuccinate lyase O argininosuccinase|arginosuccinase 20141219 9606 438 ASMT RP13-297E16.2 ASMTY|HIOMT|HIOMTY MIM:300015|MIM:402500|HGNC:HGNC:750|Ensembl:ENSG00000196433|HPRD:02058|Vega:OTTHUMG00000021065 X|Y Xp22.3 or Yp11.3 acetylserotonin O-methyltransferase protein-coding ASMT acetylserotonin O-methyltransferase O acetylserotonin N-methyltransferase|acetylserotonin methyltransferase (Y chromosome)|hydroxyindole O-methyltransferase 20141222 9606 440 ASNS - ASNSD|TS11 MIM:108370|HGNC:HGNC:753|Ensembl:ENSG00000070669|HPRD:00153|Vega:OTTHUMG00000022892 7 7q21.3 asparagine synthetase (glutamine-hydrolyzing) protein-coding ASNS asparagine synthetase (glutamine-hydrolyzing) O TS11 cell cycle control protein|asparagine synthetase [glutamine-hydrolyzing]|glutamine-dependent asparagine synthetase 20141207 9606 443 ASPA - ACY2|ASP MIM:608034|HGNC:HGNC:756|HPRD:02033 17 17p13.3 aspartoacylase protein-coding ASPA aspartoacylase O ACY-2|aminoacylase 2|aminoacylase-2 20141219 9606 445 ASS1 RP11-618A20.2 ASS|CTLN1 MIM:603470|HGNC:HGNC:758|Ensembl:ENSG00000130707|HPRD:04590|Vega:OTTHUMG00000020806 9 9q34.1 argininosuccinate synthase 1 protein-coding ASS1 argininosuccinate synthase 1 O argininosuccinate synthase|argininosuccinate synthetase 1|citrulline--aspartate ligase|citrulline-aspartate ligase 20141222 9606 471 ATIC OK/SW-cl.86 AICAR|AICARFT|HEL-S-70p|IMPCHASE|PURH MIM:601731|HGNC:HGNC:794|Ensembl:ENSG00000138363|HPRD:03434|Vega:OTTHUMG00000133023 2 2q35 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase protein-coding ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase O 5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicase|AICAR formyltransferase/IMP cyclohydrolase bifunctional enzyme|AICARFT/IMPCHASE|bifunctional purine biosynthesis protein PURH|epididymis secretory sperm binding protein Li 70p|phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase 20141207 9606 498 ATP5A1 - ATP5A|ATP5AL2|ATPM|COXPD22|HEL-S-123m|MC5DN4|MOM2|OMR|ORM|hATP1 MIM:164360|HGNC:HGNC:823|Ensembl:ENSG00000152234|HPRD:01258|Vega:OTTHUMG00000132637 18 18q21 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle protein-coding ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle O ATP synthase alpha chain, mitochondrial|ATP synthase subunit alpha, mitochondrial|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2|ATP sythase (F1-ATPase) alpha subunit|epididymis secretory sperm binding protein Li 123m|mitochondrial ATP synthetase, oligomycin-resistant 20141207 9606 501 ALDH7A1 - ATQ1|EPD|PDE MIM:107323|HGNC:HGNC:877|Ensembl:ENSG00000164904|HPRD:00124|Vega:OTTHUMG00000128942 5 5q31 aldehyde dehydrogenase 7 family, member A1 protein-coding ALDH7A1 aldehyde dehydrogenase 7 family, member A1 O 26g turgor protein homolog|P6c dehydrogenase|alpha-AASA dehydrogenase|alpha-aminoadipic semialdehyde dehydrogenase|antiquitin-1|betaine aldehyde dehydrogenase|delta1-piperideine-6-carboxylate dehydrogenase 20141219 9606 506 ATP5B - ATPMB|ATPSB|HEL-S-271 MIM:102910|HGNC:HGNC:830|Ensembl:ENSG00000110955|HPRD:00044 12 12q13.13 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide protein-coding ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide O ATP synthase subunit beta, mitochondrial|epididymis secretory protein Li 271|mitochondrial ATP synthase beta subunit|mitochondrial ATP synthetase, beta subunit 20141207 9606 516 ATP5G1 - ATP5A|ATP5G MIM:603192|HGNC:HGNC:841|Ensembl:ENSG00000159199|HPRD:04428|Vega:OTTHUMG00000160520 17 17q21.32 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) protein-coding ATP5G1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) O ATP synthase F(0) complex subunit C1, mitochondrial|ATP synthase lipid-binding protein, mitochondrial|ATP synthase proteolipid P1|ATP synthase proton-transporting mitochondrial F(0) complex subunit C1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9)|ATPase protein 9|ATPase subunit 9|ATPase subunit C|mitochondrial ATP synthase, subunit 9|mitochondrial ATP synthase, subunit C 20141207 9606 549 AUH - - MIM:600529|HGNC:HGNC:890|Ensembl:ENSG00000148090|HPRD:08987|Vega:OTTHUMG00000020207 9 9q22.31 AU RNA binding protein/enoyl-CoA hydratase protein-coding AUH AU RNA binding protein/enoyl-CoA hydratase O 3-methylglutaconyl-CoA hydratase|AU RNA binding protein/enoyl-Coenzyme A hydratase|AU RNA-binding protein/enoyl-Coenzyme A hydratase|AU-binding protein/Enoyl-CoA hydratase|AU-specific RNA-binding enoyl-CoA hydratase|methylglutaconyl-CoA hydratase, mitochondrial 20141207 9606 570 BAAT - BACAT|BAT MIM:602938|HGNC:HGNC:932|Ensembl:ENSG00000136881|HPRD:08376 9 9q22.3 bile acid CoA:amino acid N-acyltransferase protein-coding BAAT bile acid CoA:amino acid N-acyltransferase O bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)|bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)|bile acid-CoA:amino acid N-acyltransferase|long-chain fatty-acyl-CoA hydrolase 20141207 9606 586 BCAT1 RP11-625L16.4 BCATC|BCT1|ECA39|MECA39|PNAS121|PP18 MIM:113520|HGNC:HGNC:976|Ensembl:ENSG00000060982|HPRD:00216|Vega:OTTHUMG00000169053 12 12p12.1 branched chain amino-acid transaminase 1, cytosolic protein-coding BCAT1 branched chain amino-acid transaminase 1, cytosolic O branched chain aminotransferase 1, cytosolic|branched-chain-amino-acid aminotransferase, cytosolic|placental protein 18 20141207 9606 587 BCAT2 - BCAM|BCATM|BCT2|PP18 MIM:113530|HGNC:HGNC:977|Ensembl:ENSG00000105552|HPRD:00217|Vega:OTTHUMG00000183327 19 19q13 branched chain amino-acid transaminase 2, mitochondrial protein-coding BCAT2 branched chain amino-acid transaminase 2, mitochondrial O branched chain aminotransferase 2, mitochondrial|branched-chain-amino-acid aminotransferase, mitochondrial|placental protein 18 20141207 9606 593 BCKDHA - BCKDE1A|MSU|MSUD1|OVD1A MIM:608348|HGNC:HGNC:986|Ensembl:ENSG00000248098|HPRD:02009|Vega:OTTHUMG00000168128 19 19q13.1-q13.2 branched chain keto acid dehydrogenase E1, alpha polypeptide protein-coding BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide O 2-oxoisovalerate dehydrogenase (lipoamide)|2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial|BCKDH E1-alpha|branched-chain alpha-keto acid dehydrogenase E1 component alpha chain 20141219 9606 594 BCKDHB RP1-279A18.1 E1B|dJ279A18.1 MIM:248611|HGNC:HGNC:987|Ensembl:ENSG00000083123|HPRD:02011|Vega:OTTHUMG00000016430 6 6q14.1 branched chain keto acid dehydrogenase E1, beta polypeptide protein-coding BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide O 2-oxoisovalerate dehydrogenase beta subunit|2-oxoisovalerate dehydrogenase subunit beta, mitochondrial|BCKDE1B|BCKDH E1-beta|E1b-beta subunit of the branched-chain complex|branched chain alpha-ketoacid dehydrogenase E1-beta subunit|branched-chain alpha-keto acid dehydrogenase E1 component beta chain 20141219 9606 617 BCS1L - BCS|BCS1|BJS|FLNMS|GRACILE|Hs.6719|MC3DN1|PTD|h-BCS MIM:603647|HGNC:HGNC:1020|Ensembl:ENSG00000074582|HPRD:04708|Vega:OTTHUMG00000133114 2 2q33 BC1 (ubiquinol-cytochrome c reductase) synthesis-like protein-coding BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like O BCS1-like protein|h-BCS1|mitochondrial chaperone BCS1|mitochondrial complex III assembly 20141207 9606 622 BDH1 - BDH|SDR9C1 MIM:603063|HGNC:HGNC:1027|Ensembl:ENSG00000161267|HPRD:04344|Vega:OTTHUMG00000155478 3 3q29 3-hydroxybutyrate dehydrogenase, type 1 protein-coding BDH1 3-hydroxybutyrate dehydrogenase, type 1 O (R)-3-hydroxybutyrate dehydrogenase|3-hydroxybutyrate dehydrogenase (heart, mitochondrial)|D-beta-hydroxybutyrate dehydrogenase, mitochondrial|short chain dehydrogenase/reductase family 9C, member 1 20141207 9606 633 BGN - DSPG1|PG-S1|PGI|SLRR1A MIM:301870|HGNC:HGNC:1044|Ensembl:ENSG00000182492|HPRD:02359|Vega:OTTHUMG00000024205 X Xq28 biglycan protein-coding BGN biglycan O biglycan proteoglycan|bone/cartilage proteoglycan I|bone/cartilage proteoglycan-I|dermatan sulphate proteoglycan I|small leucine-rich protein 1A 20141222 9606 635 BHMT - BHMT1|HEL-S-61p MIM:602888|HGNC:HGNC:1047|Ensembl:ENSG00000145692|HPRD:04200|Vega:OTTHUMG00000108157 5 5q14.1 betaine--homocysteine S-methyltransferase protein-coding BHMT betaine--homocysteine S-methyltransferase O betaine--homocysteine S-methyltransferase 1|epididymis secretory sperm binding protein Li 61p 20141211 9606 644 BLVRA - BLVR|BVR|BVRA MIM:109750|HGNC:HGNC:1062|Ensembl:ENSG00000106605|HPRD:11229|Vega:OTTHUMG00000128953 7 7p13 biliverdin reductase A protein-coding BLVRA biliverdin reductase A O BVR A|biliverdin-IX alpha-reductase 20141207 9606 645 BLVRB - BVRB|FLR|HEL-S-10|SDR43U1 MIM:600941|HGNC:HGNC:1063|Ensembl:ENSG00000090013|HPRD:02967|Vega:OTTHUMG00000182593 19 19q13.1-q13.2 biliverdin reductase B protein-coding BLVRB biliverdin reductase B O BVR-B|FR|GHBP|NADPH-dependent diaphorase|NADPH-flavin reductase|biliverdin reductase B (flavin reductase (NADPH))|biliverdin-IX beta-reductase|epididymis secretory protein Li 10|flavin reductase (NADPH)|green heme-binding protein|short chain dehydrogenase/reductase family 43U, member 1 20141207 9606 649 BMP1 - OI13|PCOLC|PCP|PCP2|TLD MIM:112264|HGNC:HGNC:1067|Ensembl:ENSG00000168487|HPRD:00209|Vega:OTTHUMG00000097761 8 8p21.3 bone morphogenetic protein 1 protein-coding BMP1 bone morphogenetic protein 1 O mammalian tolloid protein|procollagen C-endopeptidase|procollagen C-proteinase 3 20141207 9606 661 POLR3D - BN51T|RPC4|RPC53|TSBN51 MIM:187280|HGNC:HGNC:1080|Ensembl:ENSG00000168495|HPRD:01755|Vega:OTTHUMG00000163778 8 8q21 polymerase (RNA) III (DNA directed) polypeptide D, 44kDa protein-coding POLR3D polymerase (RNA) III (DNA directed) polypeptide D, 44kDa O BN51 (BHK21) temperature sensitivity complementing|DNA-directed RNA polymerase III 47 kDa polypeptide|DNA-directed RNA polymerase III subunit D|DNA-directed RNA polymerase III subunit RPC4|RNA polymerase III 47 kDa subunit|RNA polymerase III subunit C4|RPC53 homolog|temperature sensitive complementation, cell cycle specific, tsBN51 20141207 9606 669 BPGM - DPGM MIM:613896|HGNC:HGNC:1093|Ensembl:ENSG00000172331|HPRD:01961|Vega:OTTHUMG00000155380 7 7q33 2,3-bisphosphoglycerate mutase protein-coding BPGM 2,3-bisphosphoglycerate mutase O 2,3-bisphosphoglycerate mutase, erythrocyte|2,3-bisphosphoglycerate synthase|2,3-diphosphoglycerate mutase|BPG-dependent PGAM|bisphosphoglycerate mutase|erythrocyte 2,3-bisphosphoglycerate mutase 20141207 9606 677 ZFP36L1 - BRF1|Berg36|ERF-1|ERF1|RNF162B|TIS11B|cMG1 MIM:601064|HGNC:HGNC:1107|Ensembl:ENSG00000185650|HPRD:03041|Vega:OTTHUMG00000171385 14 14q22-q24 ZFP36 ring finger protein-like 1 protein-coding ZFP36L1 ZFP36 ring finger protein-like 1 O EGF-response factor 1|butyrate response factor 1|early response factor Berg36|zinc finger protein 36, C3H type-like 1|zinc finger protein 36, C3H1 type-like 1|zinc finger protein, C3H type, 36-like 1 20141222 9606 682 BSG UNQ6505/PRO21383 5F7|CD147|EMMPRIN|M6|OK|TCSF MIM:109480|HGNC:HGNC:1116|Ensembl:ENSG00000172270|HPRD:00176|Vega:OTTHUMG00000177718 19 19p13.3 basigin (Ok blood group) protein-coding BSG basigin (Ok blood group) O CD147 antigen|OK blood group antigen|basigin|collagenase stimulatory factor|extracellular matrix metalloproteinase inducer|leukocyte activation antigen M6|tumor cell-derived collagenase stimulatory factor 20141222 9606 683 BST1 - CD157 MIM:600387|HGNC:HGNC:1118|Ensembl:ENSG00000109743|HPRD:02665|Vega:OTTHUMG00000097739 4 4p15 bone marrow stromal cell antigen 1 protein-coding BST1 bone marrow stromal cell antigen 1 O ADP-ribosyl cyclase 2|ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2|BST-1|NAD(+) nucleosidase|bone marrow stromal antigen 1|cADPr hydrolase 2|cyclic ADP-ribose hydrolase 2 20141222 9606 759 CA1 - CA-I|CAB|Car1|HEL-S-11 MIM:114800|HGNC:HGNC:1368|Ensembl:ENSG00000133742|HPRD:00265|Vega:OTTHUMG00000164941 8 8q21.2 carbonic anhydrase I protein-coding CA1 carbonic anhydrase I O carbonate dehydratase I|carbonic anhydrase 1|carbonic anhydrase B|epididymis secretory protein Li 11 20141207 9606 760 CA2 - CA-II|CAC|CAII|Car2|HEL-76 MIM:611492|HGNC:HGNC:1373|Ensembl:ENSG00000104267|HPRD:02023|Vega:OTTHUMG00000164944 8 8q22 carbonic anhydrase II protein-coding CA2 carbonic anhydrase II O carbonate dehydratase II|carbonic anhydrase 2|carbonic anhydrase B|carbonic anhydrase C|carbonic dehydratase|epididymis luminal protein 76 20141221 9606 761 CA3 - CAIII|Car3 MIM:114750|HGNC:HGNC:1374|Ensembl:ENSG00000164879|HPRD:00260|Vega:OTTHUMG00000164942 8 8q21.2 carbonic anhydrase III, muscle specific protein-coding CA3 carbonic anhydrase III, muscle specific O CA-III|HEL-S-167mP|carbonate dehydratase III|carbonic anhydrase 3|epididymis secretory sperm binding protein Li 167mP 20141207 9606 762 CA4 - CAIV|Car4|RP17 MIM:114760|HGNC:HGNC:1375|Ensembl:ENSG00000167434|HPRD:00261|Vega:OTTHUMG00000179987 17 17q23 carbonic anhydrase IV protein-coding CA4 carbonic anhydrase IV O CA-IV|carbonate dehydratase IV|carbonic anhydrase 4|carbonic dehydratase IV 20141219 9606 763 CA5A - CA5|CA5AD|CAV|CAVA MIM:114761|HGNC:HGNC:1377|HPRD:00262 16 16q24.3 carbonic anhydrase VA, mitochondrial protein-coding CA5A carbonic anhydrase VA, mitochondrial O CA-VA|carbonate dehydratase VA|carbonic anhydrase 5A, mitochondrial|carbonic anhydrase V, mitochondrial|carbonic dehydratase 20141207 9606 765 CA6 RP3-477M7.7 CA-VI|GUSTIN MIM:114780|HGNC:HGNC:1380|Ensembl:ENSG00000131686|HPRD:00264|Vega:OTTHUMG00000001763 1 1p36.2 carbonic anhydrase VI protein-coding CA6 carbonic anhydrase VI O carbonate dehydratase VI|carbonic anhydrase 6|salivary carbonic anhydrase|secreted carbonic anhydrase 20141207 9606 766 CA7 - CAVII MIM:114770|HGNC:HGNC:1381|Ensembl:ENSG00000168748|HPRD:00263|Vega:OTTHUMG00000137524 16 16q22.1 carbonic anhydrase VII protein-coding CA7 carbonic anhydrase VII O CA-VII|carbonate dehydratase VII|carbonic anhydrase 7|carbonic dehydratase VII 20141207 9606 767 CA8 - CA-VIII|CALS|CAMRQ3|CARP MIM:114815|HGNC:HGNC:1382|HPRD:00266 8 8q12.1 carbonic anhydrase VIII protein-coding CA8 carbonic anhydrase VIII O CA-related protein|carbonate dehydratase|carbonic anhydrase-like sequence|carbonic anhydrase-related protein 20141207 9606 768 CA9 - CAIX|MN MIM:603179|HGNC:HGNC:1383|Ensembl:ENSG00000107159|HPRD:04417|Vega:OTTHUMG00000021029 9 9p13.3 carbonic anhydrase IX protein-coding CA9 carbonic anhydrase IX O CA-IX|P54/58N|RCC-associated antigen G250|RCC-associated protein G250|carbonate dehydratase IX|carbonic anhydrase 9|carbonic dehydratase|membrane antigen MN|pMW1|renal cell carcinoma-associated antigen G250 20141222 9606 771 CA12 - CAXII|HsT18816 MIM:603263|HGNC:HGNC:1371|HPRD:04464 15 15q22 carbonic anhydrase XII protein-coding CA12 carbonic anhydrase XII O CA-XII|carbonate dehydratase XII|carbonic anhydrase 12|carbonic dehydratase|tumor antigen HOM-RCC-3.1.3 20141207 9606 773 CACNA1A - APCA|BI|CACNL1A4|CAV2.1|EA2|FHM|HPCA|MHP|MHP1|SCA6 MIM:601011|HGNC:HGNC:1388|Ensembl:ENSG00000141837|HPRD:03004|Vega:OTTHUMG00000044590 19 19p13 calcium channel, voltage-dependent, P/Q type, alpha 1A subunit protein-coding CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit O brain calcium channel 1|brain calcium channel I|calcium channel, L type, alpha-1 polypeptide|voltage-dependent P/Q-type calcium channel subunit alpha-1A|voltage-gated calcium channel subunit alpha Cav2.1 20141222 9606 783 CACNB2 RP11-383B4.2 CACNLB2|CAVB2|MYSB MIM:600003|HGNC:HGNC:1402|Ensembl:ENSG00000165995|HPRD:02473|Vega:OTTHUMG00000017764 10 10p12 calcium channel, voltage-dependent, beta 2 subunit protein-coding CACNB2 calcium channel, voltage-dependent, beta 2 subunit O CAB2|calcium channel voltage-dependent subunit beta 2|lambert-Eaton myasthenic syndrome antigen B|myasthenic (Lambert-Eaton) syndrome antigen B|voltage-dependent L-type calcium channel subunit beta-2 20141219 9606 784 CACNB3 - CAB3|CACNLB3 MIM:601958|HGNC:HGNC:1403|Ensembl:ENSG00000167535|HPRD:11879|Vega:OTTHUMG00000170398 12 12q13 calcium channel, voltage-dependent, beta 3 subunit protein-coding CACNB3 calcium channel, voltage-dependent, beta 3 subunit O voltage-dependent L-type calcium channel subunit beta-3 20141207 9606 788 SLC25A20 - CAC|CACT MIM:613698|HGNC:HGNC:1421|Ensembl:ENSG00000178537|HPRD:01953|Vega:OTTHUMG00000133538 3 3p21.31 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 protein-coding SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 O mitochondrial carnitine/acylcarnitine carrier protein 20141207 9606 790 CAD - - MIM:114010|HGNC:HGNC:1424|Ensembl:ENSG00000084774|HPRD:06437|Vega:OTTHUMG00000097070 2 2p22-p21 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase protein-coding CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase O CAD protein|CAD trifunctional protein|multifunctional protein CAD 20141207 9606 801 CALM1 - CALML2|CAMI|CPVT4|DD132|PHKD|caM MIM:114180|HGNC:HGNC:1442|Ensembl:ENSG00000198668|HPRD:00241|Vega:OTTHUMG00000171044 14 14q32.11 calmodulin 1 (phosphorylase kinase, delta) protein-coding CALM1 calmodulin 1 (phosphorylase kinase, delta) O calmodulin|phosphorylase kinase, delta subunit|prepro-calmodulin 1 20141222 9606 805 CALM2 - CAMII|PHKD|PHKD2 MIM:114182|HGNC:HGNC:1445|Ensembl:ENSG00000143933|HPRD:00242|Vega:OTTHUMG00000128850 2 2p21 calmodulin 2 (phosphorylase kinase, delta) protein-coding CALM2 calmodulin 2 (phosphorylase kinase, delta) O LP7057 protein|caM|calmodulin|phosphorylase kinase delta|prepro-calmodulin 2 20141207 9606 808 CALM3 - HEL-S-72|PHKD|PHKD3 MIM:114183|HGNC:HGNC:1449|Ensembl:ENSG00000160014|HPRD:00243|Vega:OTTHUMG00000133517 19 19q13.2-q13.3 calmodulin 3 (phosphorylase kinase, delta) protein-coding CALM3 calmodulin 3 (phosphorylase kinase, delta) O caM|calmodulin|epididymis secretory protein Li 72|prepro-calmodulin 3 20141207 9606 811 CALR - CRT|HEL-S-99n|RO|SSA|cC1qR MIM:109091|HGNC:HGNC:1455|Ensembl:ENSG00000179218|HPRD:00169|Vega:OTTHUMG00000180574 19 19p13.3-p13.2 calreticulin protein-coding CALR calreticulin O CRP55|ERp60|HACBP|Sicca syndrome antigen A (autoantigen Ro; calreticulin)|calregulin|endoplasmic reticulum resident protein 60|epididymis secretory sperm binding protein Li 99n|grp60 20141222 9606 821 CANX - CNX|IP90|P90 MIM:114217|HGNC:HGNC:1473|Ensembl:ENSG00000127022|HPRD:00252|Vega:OTTHUMG00000130910 5 5q35 calnexin protein-coding CANX calnexin O major histocompatibility complex class I antigen-binding protein p88 20141207 9606 847 CAT - - MIM:115500|HGNC:HGNC:1516|Ensembl:ENSG00000121691|HPRD:00282|Vega:OTTHUMG00000044353 11 11p13 catalase protein-coding CAT catalase O - 20141207 9606 857 CAV1 - BSCL3|CGL3|LCCNS|MSTP085|PPH3|VIP21 MIM:601047|HGNC:HGNC:1527|Ensembl:ENSG00000105974|HPRD:03028|Vega:OTTHUMG00000023413 7 7q31.1 caveolin 1, caveolae protein, 22kDa protein-coding CAV1 caveolin 1, caveolae protein, 22kDa O caveolin-1|cell growth-inhibiting protein 32 20141207 9606 873 CBR1 - CBR|SDR21C1|hCBR1 MIM:114830|HGNC:HGNC:1548|Ensembl:ENSG00000159228|HPRD:00267|Vega:OTTHUMG00000086618 21 21q22.13 carbonyl reductase 1 protein-coding CBR1 carbonyl reductase 1 O 15-hydroxyprostaglandin dehydrogenase|NADPH-dependent carbonyl reductase 1|carbonyl reductase (NADPH) 1|carbonyl reductase [NADPH] 1|prostaglandin 9-ketoreductase|prostaglandin-E(2) 9-reductase|short chain dehydrogenase/reductase family 21C, member 1 20141207 9606 874 CBR3 - HEL-S-25|SDR21C2|hCBR3 MIM:603608|HGNC:HGNC:1549|Ensembl:ENSG00000159231|HPRD:07222|Vega:OTTHUMG00000086617 21 21q22.2 carbonyl reductase 3 protein-coding CBR3 carbonyl reductase 3 O NADPH-dependent carbonyl reductase 3|carbonyl reductase (NADPH) 3|carbonyl reductase [NADPH] 3|epididymis secretory protein Li 25|short chain dehydrogenase/reductase family 21C, member 2 20141207 9606 875 CBS - HIP4 MIM:613381|HGNC:HGNC:1550|Ensembl:ENSG00000160200|HPRD:01994|Vega:OTTHUMG00000086834 21 21q22.3 cystathionine-beta-synthase protein-coding CBS cystathionine-beta-synthase O beta-thionase|cystathionine beta-synthase|methylcysteine synthase|serine sulfhydrase 20141222 9606 883 CCBL1 RP11-545E17.6 GTK|KAT1|KATI MIM:600547|HGNC:HGNC:1564|Ensembl:ENSG00000171097|HPRD:02769|Vega:OTTHUMG00000020767 9 9q34.11 cysteine conjugate-beta lyase, cytoplasmic protein-coding CCBL1 cysteine conjugate-beta lyase, cytoplasmic O beta-lysase, kidney|cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)|cysteine-S-conjugate beta-lyase|glutamine transaminase K|glutamine--phenylpyruvate transaminase|glutamine-phenylpyruvate aminotransferase|kyneurenine aminotransferase|kynurenine aminotransferase I|kynurenine--oxoglutarate transaminase 1|kynurenine--oxoglutarate transaminase I 20141211 9606 892 CCNC RP1-199J3.1 CycC MIM:123838|HGNC:HGNC:1581|Ensembl:ENSG00000112237|HPRD:00456|Vega:OTTHUMG00000015268 6 6q21 cyclin C protein-coding CCNC cyclin C O SRB11 homolog|cyclin-C|hSRB11 20141207 9606 908 CCT6A - CCT-zeta|CCT-zeta-1|CCT6|Cctz|HTR3|MoDP-2|TCP-1-zeta|TCP20|TCPZ|TTCP20 MIM:104613|HGNC:HGNC:1620|Ensembl:ENSG00000146731|HPRD:00089|Vega:OTTHUMG00000022842 7 7p11.2 chaperonin containing TCP1, subunit 6A (zeta 1) protein-coding CCT6A chaperonin containing TCP1, subunit 6A (zeta 1) O T-complex protein 1 subunit zeta|T-complex protein 1, zeta subunit|acute morphine dependence related protein 2|acute morphine dependence-related protein 2|amino acid transport defect-complementing|chaperonin containing T-complex subunit 6|histidine transport regulator 3 20141207 9606 948 CD36 - BDPLT10|CHDS7|FAT|GP3B|GP4|GPIV|PASIV|SCARB3 MIM:173510|HGNC:HGNC:1663|Ensembl:ENSG00000135218|HPRD:01430|Vega:OTTHUMG00000155383 7 7q11.2 CD36 molecule (thrombospondin receptor) protein-coding CD36 CD36 molecule (thrombospondin receptor) O CD36 antigen (collagen type I receptor, thrombospondin receptor)|GPIIIB|PAS IV|PAS-4 protein|cluster determinant 36|fatty acid translocase|glycoprotein IIIb|leukocyte differentiation antigen CD36|platelet glycoprotein 4|platelet glycoprotein IV|scavenger receptor class B, member 3 20141222 9606 949 SCARB1 - CD36L1|CLA-1|CLA1|HDLQTL6|SR-BI|SRB1 MIM:601040|HGNC:HGNC:1664|Ensembl:ENSG00000073060|HPRD:03024|Vega:OTTHUMG00000168544 12 12q24.31 scavenger receptor class B, member 1 protein-coding SCARB1 scavenger receptor class B, member 1 O CD36 and LIMPII analogous 1|CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1|scavenger receptor class B member 1|scavenger receptor class B type III 20141207 9606 952 CD38 - ADPRC 1|T10 MIM:107270|HGNC:HGNC:1667|HPRD:00116 4 4p15 CD38 molecule protein-coding CD38 CD38 molecule O 2'-phospho-ADP-ribosyl cyclase|2'-phospho-ADP-ribosyl cyclase/2'-phospho-cyclic-ADP-ribose transferase|2'-phospho-cyclic-ADP-ribose transferase|ADP-ribosyl cyclase 1|ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1|CD38 antigen (p45)|NAD(+) nucleosidase|cADPr hydrolase 1|cyclic ADP-ribose hydrolase 1 20141222 9606 953 ENTPD1 - ATPDase|CD39|NTPDase-1|SPG64 MIM:601752|HGNC:HGNC:3363|Ensembl:ENSG00000138185|HPRD:09047 10 10q24 ectonucleoside triphosphate diphosphohydrolase 1 protein-coding ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 O CD39 antigen|NTPDase 1|ecto-ATP diphosphohydrolase 1|ecto-ATPDase 1|ecto-ATPase 1|ecto-apyrase|lymphoid cell activation antigen 20141222 9606 954 ENTPD2 RP11-229P13.11-001 CD39L1|NTPDase-2 MIM:602012|HGNC:HGNC:3364|Ensembl:ENSG00000054179|HPRD:03600|Vega:OTTHUMG00000020953 9 9q34 ectonucleoside triphosphate diphosphohydrolase 2 protein-coding ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 O CD39 antigen-like 1|NTPDase 2|ecto-ATP diphosphohydrolase 2|ecto-ATPDase 2|ecto-ATPase 2 20141207 9606 955 ENTPD6 RP4-738P15.5 CD39L2|IL-6SAG|IL6ST2|NTPDase-6|dJ738P15.3 MIM:603160|HGNC:HGNC:3368|Ensembl:ENSG00000197586|HPRD:16013|Vega:OTTHUMG00000032116 20 20p11.21 ectonucleoside triphosphate diphosphohydrolase 6 (putative) protein-coding ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 (putative) O CD39 antigen-like 2|CD39-like 2|HCV-E2 binding protein 1|NTPDase 6|ectonucleoside triphosphate diphosphohydrolase 6|ectonucleoside triphosphate diphosphohydrolase 6 (putative function)|interleukin 6 signal transducer-2 20141207 9606 956 ENTPD3 - CD39L3|HB6|NTPDase-3 MIM:603161|HGNC:HGNC:3365|Ensembl:ENSG00000168032|HPRD:16014|Vega:OTTHUMG00000131390 3 3p21.3 ectonucleoside triphosphate diphosphohydrolase 3 protein-coding ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 O CD39 antigen-like 3|NTPDase 3|ecto-ATP diphosphohydrolase 3|ecto-ATPDase 3|ecto-ATPase 3|ecto-apyrase 3 20141207 9606 957 ENTPD5 - CD39L4|NTPDase-5|PCPH MIM:603162|HGNC:HGNC:3367|HPRD:16015 14 14q24 ectonucleoside triphosphate diphosphohydrolase 5 protein-coding ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 O CD39 antigen-like 4|CD39-like 4|ER-UDPase|GDPase ENTPD5|NTPDase 5|Pcph proto-oncogene protein|UDPase ENTPD5|guanosine-diphosphatase ENTPD5|nucleoside diphosphatase|proto-oncogene CPH|uridine-diphosphatase ENTPD5 20141207 9606 960 CD44 AL133330.1 CDW44|CSPG8|ECMR-III|HCELL|HUTCH-I|IN|LHR|MC56|MDU2|MDU3|MIC4|Pgp1 MIM:107269|HGNC:HGNC:1681|Ensembl:ENSG00000026508|HPRD:00115|Vega:OTTHUMG00000044388 11 11p13 CD44 molecule (Indian blood group) protein-coding CD44 CD44 molecule (Indian blood group) O CD44 antigen|GP90 lymphocyte homing/adhesion receptor|Hermes antigen|cell surface glycoprotein CD44|chondroitin sulfate proteoglycan 8|epican|extracellular matrix receptor III|hematopoietic cell E- and L-selectin ligand|heparan sulfate proteoglycan|homing function and Indian blood group system|hyaluronate receptor|phagocytic glycoprotein 1 20141222 9606 978 CDA - CDD MIM:123920|HGNC:HGNC:1712|Ensembl:ENSG00000158825|HPRD:11744|Vega:OTTHUMG00000002845 1 1p36.2-p35 cytidine deaminase protein-coding CDA cytidine deaminase O cytidine aminohydrolase|cytosine nucleoside deaminase|small cytidine deaminase 20141222 9606 1024 CDK8 - K35 MIM:603184|HGNC:HGNC:1779|Ensembl:ENSG00000132964|HPRD:04422|Vega:OTTHUMG00000016617 13 13q12 cyclin-dependent kinase 8 protein-coding CDK8 cyclin-dependent kinase 8 O CDK8 protein kinase|cell division protein kinase 8|mediator complex subunit CDK8|mediator of RNA polymerase II transcription subunit CDK8|protein kinase K35 20141207 9606 1036 CDO1 - - MIM:603943|HGNC:HGNC:1795|Ensembl:ENSG00000129596|HPRD:06806|Vega:OTTHUMG00000128891 5 5q23.2 cysteine dioxygenase type 1 protein-coding CDO1 cysteine dioxygenase type 1 O CDO|CDO-I|cysteine dioxygenase, type I 20141207 9606 1040 CDS1 - CDS MIM:603548|HGNC:HGNC:1800|Ensembl:ENSG00000163624|HPRD:11944|Vega:OTTHUMG00000130428 4 4q21.23 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 protein-coding CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 O CDP-DAG synthase 1|CDP-DG synthase 1|CDP-DG synthetase 1|CDP-diacylglycerol synthase 1|CDP-diglyceride pyrophosphorylase 1|CDP-diglyceride synthase 1|CDP-diglyceride synthetase 1|CDS 1|CTP:phosphatidate cytidylyltransferase 1|phosphatidate cytidylyltransferase 1 20141207 9606 1045 CDX2 - CDX-3|CDX2/AS|CDX3 MIM:600297|HGNC:HGNC:1806|HPRD:02622 13 13q12.3 caudal type homeobox 2 protein-coding CDX2 caudal type homeobox 2 O caudal type homeo box transcription factor 2|caudal type homeobox transcription factor 2|caudal-type homeobox protein 2|homeobox protein CDX-2 20141222 9606 1056 CEL - BAL|BSDL|BSSL|CELL|CEase|FAP|FAPP|LIPA|MODY8 MIM:114840|HGNC:HGNC:1848|Ensembl:ENSG00000170835|HPRD:07509|Vega:OTTHUMG00000020855 9 9q34.3 carboxyl ester lipase protein-coding CEL carboxyl ester lipase O bile salt-activated lipase|bile salt-dependent lipase, oncofetal isoform|bucelipase|carboxyl ester hydrolase|carboxyl ester lipase (bile salt-stimulated lipase)|cholesterol esterase|fetoacinar pancreatic protein|lysophospholipase, pancreatic|sterol esterase 20141207 9606 1066 CES1 - ACAT|CE-1|CEH|CES2|HMSE|HMSE1|PCE-1|REH|SES1|TGH|hCE-1 MIM:114835|HGNC:HGNC:1863|Ensembl:ENSG00000198848|HPRD:00268|Vega:OTTHUMG00000176718 16 16q22.2 carboxylesterase 1 protein-coding CES1 carboxylesterase 1 O acyl coenzyme A:cholesterol acyltransferase|acyl-coenzyme A:cholesterol acyltransferase|brain carboxylesterase hBr1|carboxylesterase 1 (monocyte/macrophage serine esterase 1)|carboxylesterase 2 (liver)|cholesteryl ester hydrolase|cocaine carboxylesterase|egasyn|human monocyte/macrophage serine esterase 1|liver carboxylesterase 1|methylumbelliferyl-acetate deacetylase 1|monocyte/macrophage serine esterase|retinyl ester hydrolase|serine esterase 1|triacylglycerol hydrolase 20141222 9606 1071 CETP - BPIFF|HDLCQ10 MIM:118470|HGNC:HGNC:1869|Ensembl:ENSG00000087237|HPRD:00325|Vega:OTTHUMG00000133279 16 16q21 cholesteryl ester transfer protein, plasma protein-coding CETP cholesteryl ester transfer protein, plasma O BPI fold containing family F|cholesteryl ester transfer protein|lipid transfer protein I 20141222 9606 1081 CGA RP11-156F23.1 CG-ALPHA|FSHA|GPHA1|GPHa|HCG|LHA|TSHA MIM:118850|HGNC:HGNC:1885|Ensembl:ENSG00000135346|HPRD:00342|Vega:OTTHUMG00000015161 6 6q12-q21 glycoprotein hormones, alpha polypeptide protein-coding CGA glycoprotein hormones, alpha polypeptide O FSH-alpha|LSH-alpha|TSH-alpha|anterior pituitary glycoprotein hormones common subunit alpha|choriogonadotropin alpha chain|chorionic gonadotrophin subunit alpha|chorionic gonadotropin, alpha polypeptide|follicle-stimulating hormone alpha chain|follicle-stimulating hormone alpha subunit|follitropin alpha chain|glycoprotein hormones alpha chain|luteinizing hormone alpha chain|lutropin alpha chain|thyroid-stimulating hormone alpha chain|thyrotropin alpha chain 20141207 9606 1082 CGB - CGB3|CGB5|CGB7|CGB8|hCGB MIM:118860|HGNC:HGNC:1886|Ensembl:ENSG00000104827|HPRD:00343|Vega:OTTHUMG00000180605 19 19q13.32 chorionic gonadotropin, beta polypeptide protein-coding CGB chorionic gonadotropin, beta polypeptide O CG-beta|choriogonadotropin subunit beta|chorionic gonadotrophin chain beta|chorionic gonadotropin beta 3 subunit|chorionic gonadotropin beta chain|chorionic gonadotropin beta subunit 20141222 9606 1103 CHAT - CHOACTASE|CMS1A|CMS1A2 MIM:118490|HGNC:HGNC:1912|Ensembl:ENSG00000070748|HPRD:07510|Vega:OTTHUMG00000018198 10 10q11.2 choline O-acetyltransferase protein-coding CHAT choline O-acetyltransferase O acetyl CoA:choline O-acetyltransferase|choline acetylase 20141219 9606 1109 AKR1C4 - 3-alpha-HSD|C11|CDR|CHDR|DD-4|DD4|HAKRA MIM:600451|HGNC:HGNC:387|Ensembl:ENSG00000198610|HPRD:07040|Vega:OTTHUMG00000017591 10 10p15.1 aldo-keto reductase family 1, member C4 protein-coding AKR1C4 aldo-keto reductase family 1, member C4 O 3-alpha-HSD1|aldo-keto reductase family 1 member C4|chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4|dihydrodiol dehydrogenase isozyme DD4|type I 3-alpha-hydroxysteroid dehydrogenase 20141211 9606 1118 CHIT1 - CHI3|CHIT|CHITD MIM:600031|HGNC:HGNC:1936|Ensembl:ENSG00000133063|HPRD:02494|Vega:OTTHUMG00000042126 1 1q32.1 chitinase 1 (chitotriosidase) protein-coding CHIT1 chitinase 1 (chitotriosidase) O chitotriosidase-1|plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase 20141207 9606 1119 CHKA - CHK|CK|CKI|EK MIM:118491|HGNC:HGNC:1937|Ensembl:ENSG00000110721|HPRD:00327|Vega:OTTHUMG00000167424 11 11q13.2 choline kinase alpha protein-coding CHKA choline kinase alpha O CHETK-alpha|ethanolamine kinase 20141207 9606 1120 CHKB - CHETK|CHKL|CK|CKB|CKEKB|EK|EKB|MDCMC MIM:612395|HGNC:HGNC:1938|Ensembl:ENSG00000100288|HPRD:07631|Vega:OTTHUMG00000150275 22 22q13.33 choline kinase beta protein-coding CHKB choline kinase beta O choline kinase-like protein|choline/ethanolamine kinase|ethanolamine kinase beta 20141219 9606 1131 CHRM3 - EGBRS|HM3 MIM:118494|HGNC:HGNC:1952|Ensembl:ENSG00000133019|HPRD:00329 1 1q43 cholinergic receptor, muscarinic 3 protein-coding CHRM3 cholinergic receptor, muscarinic 3 O acetylcholine receptor, muscarinic 3|m3 muscarinic receptor|muscarinic acetylcholine receptor M3 20141207 9606 1152 CKB - B-CK|BCK|CKBB|HEL-211|HEL-S-29 MIM:123280|HGNC:HGNC:1991|Ensembl:ENSG00000166165|HPRD:00423|Vega:OTTHUMG00000171786 14 14q32 creatine kinase, brain protein-coding CKB creatine kinase, brain O creatine kinase B chain|creatine kinase B-type|creatine kinase-B|epididymis luminal protein 211|epididymis secretory protein Li 29 20141222 9606 1155 TBCB - CG22|CKAP1|CKAPI MIM:601303|HGNC:HGNC:1989|Ensembl:ENSG00000105254|HPRD:03196|Vega:OTTHUMG00000048143 19 19q13.11-q13.12 tubulin folding cofactor B protein-coding TBCB tubulin folding cofactor B O cytoskeleton associated protein 1|cytoskeleton-associated protein CKAPI|tubulin-folding cofactor B|tubulin-specific chaperone B 20141207 9606 1158 CKM - CKMM|M-CK MIM:123310|HGNC:HGNC:1994|Ensembl:ENSG00000104879|HPRD:00426|Vega:OTTHUMG00000181782 19 19q13.32 creatine kinase, muscle protein-coding CKM creatine kinase, muscle O creatine kinase M chain|creatine kinase M-type 20141207 9606 1159 CKMT1B - CKMT|CKMT1|UMTCK MIM:123290|HGNC:HGNC:1995|Ensembl:ENSG00000237289|HPRD:00424 15 15q15 creatine kinase, mitochondrial 1B protein-coding CKMT1B creatine kinase, mitochondrial 1B O U-MtCK|acidic-type mitochondrial creatine kinase|creatine kinase U-type, mitochondrial|creatine kinase, mitochondrial 1 (ubiquitous)|mia-CK|ubiquitous mitochondrial creatine kinase 20141207 9606 1160 CKMT2 - SMTCK MIM:123295|HGNC:HGNC:1996|Ensembl:ENSG00000131730|HPRD:00425|Vega:OTTHUMG00000119013 5 5q13.3 creatine kinase, mitochondrial 2 (sarcomeric) protein-coding CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) O S-MtCK|basic-type mitochondrial creatine kinase|creatine kinase S-type, mitochondrial|mib-CK|sarcomeric mitochondrial creatine kinase 20141207 9606 1207 CLNS1A - CLCI|CLNS1B|ICln MIM:602158|HGNC:HGNC:2080|Ensembl:ENSG00000074201|HPRD:03694|Vega:OTTHUMG00000165143 11 11q13.5-q14 chloride channel, nucleotide-sensitive, 1A protein-coding CLNS1A chloride channel, nucleotide-sensitive, 1A O chloride channel regulatory protein|chloride channel, nucleotide sensitive 1A|chloride conductance regulatory protein ICln|chloride ion current inducer protein|i(Cln)|methylosome subunit pICln|reticulocyte pICln|reticulocyte protein ICln 20141207 9606 1208 CLPS - - MIM:120105|HGNC:HGNC:2085|Ensembl:ENSG00000137392|HPRD:00356|Vega:OTTHUMG00000014578 6 6p21.31 colipase, pancreatic protein-coding CLPS colipase, pancreatic O colipase|pancreatic colipase preproprotein 20141207 9606 1312 COMT - HEL-S-98n MIM:116790|HGNC:HGNC:2228|Ensembl:ENSG00000093010|HPRD:00284|Vega:OTTHUMG00000150529 22 22q11.21 catechol-O-methyltransferase protein-coding COMT catechol-O-methyltransferase O catechol O-methyltransferase|epididymis secretory sperm binding protein Li 98n 20141222 9606 1352 COX10 - - MIM:602125|HGNC:HGNC:2260|Ensembl:ENSG00000006695|HPRD:03673|Vega:OTTHUMG00000058814 17 17p12 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor protein-coding COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor O COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase|cytochrome c oxidase assembly homolog 10|cytochrome c oxidase assembly protein|cytochrome c oxidase subunit X|heme A: farnesyltransferase|heme O synthase|protoheme IX farnesyltransferase, mitochondrial 20141207 9606 1355 COX15 - CEMCOX2 MIM:603646|HGNC:HGNC:2263|HPRD:04707 10 10q24 cytochrome c oxidase assembly homolog 15 (yeast) protein-coding COX15 cytochrome c oxidase assembly homolog 15 (yeast) O COX15 homolog, cytochrome c oxidase assembly protein|cytochrome c oxidase assembly protein COX15 homolog|cytochrome c oxidase subunit 15 20141207 9606 1356 CP - CP-2 MIM:117700|HGNC:HGNC:2295|Ensembl:ENSG00000047457|HPRD:00317|Vega:OTTHUMG00000159563 3 3q23-q25 ceruloplasmin (ferroxidase) protein-coding CP ceruloplasmin (ferroxidase) O ceruloplasmin 20141219 9606 1371 CPOX - CPO|CPX|HCP MIM:612732|HGNC:HGNC:2321|Ensembl:ENSG00000080819|HPRD:00417|Vega:OTTHUMG00000160016 3 3q12 coproporphyrinogen oxidase protein-coding CPOX coproporphyrinogen oxidase O COX|coprogen oxidase|coproporphyrinogen-III oxidase, mitochondrial|coproporphyrinogenase|oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial 20141219 9606 1373 CPS1 - CPSASE1|PHN MIM:608307|HGNC:HGNC:2323|Ensembl:ENSG00000021826|HPRD:01995|Vega:OTTHUMG00000132994 2 2q35 carbamoyl-phosphate synthase 1, mitochondrial protein-coding CPS1 carbamoyl-phosphate synthase 1, mitochondrial O carbamoyl-phosphate synthase [ammonia], mitochondrial|carbamoylphosphate synthetase I 20141211 9606 1374 CPT1A - CPT1|CPT1-L|L-CPT1 MIM:600528|HGNC:HGNC:2328|Ensembl:ENSG00000110090|HPRD:02755|Vega:OTTHUMG00000167892 11 11q13.2 carnitine palmitoyltransferase 1A (liver) protein-coding CPT1A carnitine palmitoyltransferase 1A (liver) O CPT I|CPTI-L|carnitine O-palmitoyltransferase 1, liver isoform|carnitine O-palmitoyltransferase I, liver isoform|carnitine palmitoyltransferase I, liver 20141219 9606 1375 CPT1B - CPT1-M|CPT1M|CPTI|CPTI-M|M-CPT1|MCCPT1|MCPT1 MIM:601987|HGNC:HGNC:2329|Ensembl:ENSG00000205560|HPRD:09065|Vega:OTTHUMG00000137390 22 22q13.33 carnitine palmitoyltransferase 1B (muscle) protein-coding CPT1B carnitine palmitoyltransferase 1B (muscle) O carnitine O-palmitoyltransferase 1, muscle isoform|carnitine O-palmitoyltransferase I, mitochondrial muscle isoform|carnitine palmitoyltransferase I-like protein 20141207 9606 1376 CPT2 - CPT1|CPTASE|IIAE4 MIM:600650|HGNC:HGNC:2330|Ensembl:ENSG00000157184|HPRD:02802|Vega:OTTHUMG00000008942 1 1p32 carnitine palmitoyltransferase 2 protein-coding CPT2 carnitine palmitoyltransferase 2 O CPT II|carnitine O-palmitoyltransferase 2, mitochondrial|carnitine palmitoyltransferase II 20141219 9606 1384 CRAT RP11-247A12.5 CAT1 MIM:600184|HGNC:HGNC:2342|Ensembl:ENSG00000095321|HPRD:08971|Vega:OTTHUMG00000147343 9 9q34.1 carnitine O-acetyltransferase protein-coding CRAT carnitine O-acetyltransferase O CAT|carnitine acetylase|carnitine acetyltransferase 20141211 9606 1387 CREBBP - CBP|KAT3A|RSTS MIM:600140|HGNC:HGNC:2348|Ensembl:ENSG00000005339|HPRD:02534|Vega:OTTHUMG00000129431 16 16p13.3 CREB binding protein protein-coding CREBBP CREB binding protein O CREB-binding protein 20141219 9606 1431 CS - - MIM:118950|HGNC:HGNC:2422|Ensembl:ENSG00000062485|HPRD:00349|Vega:OTTHUMG00000170344 12 12q13.2 citrate synthase protein-coding CS citrate synthase O citrate (Si)-synthase|citrate synthase, mitochondrial 20141207 9606 1432 MAPK14 RP1-179N16.5 CSBP|CSBP1|CSBP2|CSPB1|EXIP|Mxi2|PRKM14|PRKM15|RK|SAPK2A|p38|p38ALPHA MIM:600289|HGNC:HGNC:6876|Ensembl:ENSG00000112062|HPRD:02619|Vega:OTTHUMG00000159806 6 6p21.3-p21.2 mitogen-activated protein kinase 14 protein-coding MAPK14 mitogen-activated protein kinase 14 O CSAID-binding protein|Csaids binding protein|MAP kinase 14|MAP kinase Mxi2|MAP kinase p38 alpha|MAX-interacting protein 2|cytokine suppressive anti-inflammatory drug binding protein|cytokine suppressive anti-inflammatory drug-binding protein|mitogen-activated protein kinase p38 alpha|p38 MAP kinase|p38 mitogen activated protein kinase|p38alpha Exip|stress-activated protein kinase 2A 20141222 9606 1455 CSNK1G2 - CK1g2 MIM:602214|HGNC:HGNC:2455|Ensembl:ENSG00000133275|HPRD:03738|Vega:OTTHUMG00000180016 19 19p13.3 casein kinase 1, gamma 2 protein-coding CSNK1G2 casein kinase 1, gamma 2 O CKI-gamma 2|casein kinase 1 isoform gamma-2|casein kinase I isoform gamma-2 20141207 9606 1462 VCAN - CSPG2|ERVR|GHAP|PG-M|WGN|WGN1 MIM:118661|HGNC:HGNC:2464|Ensembl:ENSG00000038427|HPRD:00340|Vega:OTTHUMG00000131321 5 5q14.3 versican protein-coding VCAN versican O chondroitin sulfate proteoglycan 2|chondroitin sulfate proteoglycan core protein 2|glial hyaluronate-binding protein|large fibroblast proteoglycan|versican core protein|versican proteoglycan 20141222 9606 1463 NCAN - CSPG3 MIM:600826|HGNC:HGNC:2465|Ensembl:ENSG00000130287|HPRD:02897|Vega:OTTHUMG00000182218 19 19p12 neurocan protein-coding NCAN neurocan O chondroitin sulfate proteoglycan 3 (neurocan)|neurocan core protein|neurocan proteoglycan 20141207 9606 1464 CSPG4 - HMW-MAA|MCSP|MCSPG|MEL-CSPG|MSK16|NG2 MIM:601172|HGNC:HGNC:2466|Ensembl:ENSG00000173546|HPRD:03105|Vega:OTTHUMG00000142836 15 15q24.2 chondroitin sulfate proteoglycan 4 protein-coding CSPG4 chondroitin sulfate proteoglycan 4 O chondroitin sulfate proteoglycan 4 (melanoma-associated)|chondroitin sulfate proteoglycan NG2|melanoma chondroitin sulfate proteoglycan|melanoma-associated chondroitin sulfate proteoglycan 20141207 9606 1468 SLC25A10 - DIC MIM:606794|HGNC:HGNC:10980|Ensembl:ENSG00000183048|HPRD:08424|Vega:OTTHUMG00000178173 17 17q25.3 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 protein-coding SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 O dicarboxylate ion carrier|mitochondrial dicarboxylate carrier 20141207 9606 1490 CTGF - CCN2|HCS24|IGFBP8|NOV2 MIM:121009|HGNC:HGNC:2500|Ensembl:ENSG00000118523|HPRD:00412|Vega:OTTHUMG00000015573 6 6q23.1 connective tissue growth factor protein-coding CTGF connective tissue growth factor O CCN family member 2|IBP-8|IGF-binding protein 8|IGFBP-8|hypertrophic chondrocyte-specific protein 24|insulin-like growth factor-binding protein 8 20141207 9606 1491 CTH - - MIM:607657|HGNC:HGNC:2501|Ensembl:ENSG00000116761|HPRD:09633|Vega:OTTHUMG00000009352 1 1p31.1 cystathionine gamma-lyase protein-coding CTH cystathionine gamma-lyase O cystathionase (cystathionine gamma-lyase)|cysteine desulfhydrase|cysteine-protein sulfhydrase|gamma-cystathionase|homoserine deaminase|homoserine dehydratase 20141222 9606 1499 CTNNB1 OK/SW-cl.35 CTNNB|MRD19|armadillo MIM:116806|HGNC:HGNC:2514|Ensembl:ENSG00000168036|HPRD:00286|Vega:OTTHUMG00000131393 3 3p21 catenin (cadherin-associated protein), beta 1, 88kDa protein-coding CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa O catenin beta-1 20141222 9606 1503 CTPS1 - CTPS|IMD24 MIM:123860|HGNC:HGNC:2519|Ensembl:ENSG00000171793|HPRD:00465|Vega:OTTHUMG00000005712 1 1p34.1 CTP synthase 1 protein-coding CTPS1 CTP synthase 1 O CTP synthetase 1|UTP--ammonia ligase 1|cytidine 5'-triphosphate synthetase|cytidine 5-prime triphosphate synthetase 20141207 9606 1537 CYC1 - MC3DN6|UQCR4 MIM:123980|HGNC:HGNC:2579|Ensembl:ENSG00000179091|HPRD:00480|Vega:OTTHUMG00000165242 8 8q24.3 cytochrome c-1 protein-coding CYC1 cytochrome c-1 O complex III subunit 4|complex III subunit IV|cytochrome b-c1 complex subunit 4|cytochrome c1, heme protein, mitochondrial|ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit 20141207 9606 1603 DAD1 - OST2 MIM:600243|HGNC:HGNC:2664|Ensembl:ENSG00000129562|HPRD:02589|Vega:OTTHUMG00000028685 14 14q11.2 defender against cell death 1 protein-coding DAD1 defender against cell death 1 O DAD-1|dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1|oligosaccharyl transferase subunit DAD1|oligosaccharyltransferase 2 homolog|oligosaccharyltransferase subunit 2 (non-catalytic) 20141207 9606 1606 DGKA - DAGK|DAGK1|DGK-alpha MIM:125855|HGNC:HGNC:2849|Ensembl:ENSG00000065357|HPRD:00517|Vega:OTTHUMG00000170109 12 12q13.3 diacylglycerol kinase, alpha 80kDa protein-coding DGKA diacylglycerol kinase, alpha 80kDa O 80 kDa diacylglycerol kinase|DAG kinase alpha|diacylglycerol kinase alpha|diglyceride kinase alpha 20141207 9606 1607 DGKB - DAGK2|DGK|DGK-BETA MIM:604070|HGNC:HGNC:2850|Ensembl:ENSG00000136267|HPRD:06819|Vega:OTTHUMG00000152477 7 7p21.2 diacylglycerol kinase, beta 90kDa protein-coding DGKB diacylglycerol kinase, beta 90kDa O 90 kDa diacylglycerol kinase|DAG kinase beta|diacylglycerol kinase beta|diglyceride kinase beta 20141207 9606 1608 DGKG - DAGK3|DGK-GAMMA MIM:601854|HGNC:HGNC:2853|Ensembl:ENSG00000058866|HPRD:03510|Vega:OTTHUMG00000156617 3 3q27.2-q27.3 diacylglycerol kinase, gamma 90kDa protein-coding DGKG diacylglycerol kinase, gamma 90kDa O DAG kinase gamma|diacylglycerol kinase gamma|diacylglyerol kinase gamma|diglyceride kinase gamma 20141207 9606 1609 DGKQ - DAGK|DAGK4|DAGK7 MIM:601207|HGNC:HGNC:2856|Ensembl:ENSG00000145214|HPRD:03127|Vega:OTTHUMG00000088629 4 4p16.3 diacylglycerol kinase, theta 110kDa protein-coding DGKQ diacylglycerol kinase, theta 110kDa O DAG kinase theta|DGK-theta|diacylglycerol kinase theta|diglyceride kinase theta 20141207 9606 1610 DAO - DAAO|DAMOX|OXDA MIM:124050|HGNC:HGNC:2671|Ensembl:ENSG00000110887|HPRD:15917|Vega:OTTHUMG00000169360 12 12q24 D-amino-acid oxidase protein-coding DAO D-amino-acid oxidase O D-amino acid oxidase 20141207 9606 1621 DBH RP11-317B10.1 DBM MIM:609312|HGNC:HGNC:2689|Ensembl:ENSG00000123454|HPRD:01963|Vega:OTTHUMG00000020878 9 9q34 dopamine beta-hydroxylase (dopamine beta-monooxygenase) protein-coding DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) O dopamine beta-hydroxylase 20141222 9606 1629 DBT RP11-305E17.3 BCATE2|BCKAD-E2|BCKADE2|E2|E2B MIM:248610|HGNC:HGNC:2698|Ensembl:ENSG00000137992|HPRD:02010|Vega:OTTHUMG00000010921 1 1p31 dihydrolipoamide branched chain transacylase E2 protein-coding DBT dihydrolipoamide branched chain transacylase E2 O BCKAD E2 subunit|E2 component of branched chain alpha-keto acid dehydrogenase complex|branched chain acyltransferase, E2 component|branched-chain alpha-keto acid dehydrogenase complex component E2|dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex|dihydrolipoyl transacylase|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase|lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial|lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex|mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b) 20141219 9606 1632 ECI1 - DCI MIM:600305|HGNC:HGNC:2703|Ensembl:ENSG00000167969|HPRD:02628|Vega:OTTHUMG00000128830 16 16p13.3 enoyl-CoA delta isomerase 1 protein-coding ECI1 enoyl-CoA delta isomerase 1 O 3,2 trans-enoyl-CoA isomerase|3,2 trans-enoyl-Coenzyme A isomerase|3,2-trans-enoyl-CoA isomerase, mitochondrial|D3,D2-enoyl-CoA isomerase|acetylene-allene isomerase|delta(3),Delta(2)-enoyl-CoA isomerase|delta3, delta2-enoyl-CoA isomerase|dodecenoyl-CoA delta isomerase (3,2 trans-enoyl-CoA isomerase)|dodecenoyl-CoA isomerase|dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)|enoyl-CoA delta isomerase 1, mitochondrial 20141207 9606 1633 DCK - - MIM:125450|HGNC:HGNC:2704|Ensembl:ENSG00000156136|HPRD:00507|Vega:OTTHUMG00000129908 4 4q13.3-q21.1 deoxycytidine kinase protein-coding DCK deoxycytidine kinase O deoxynucleoside kinase 20141207 9606 1634 DCN - CSCD|DSPG2|PG40|PGII|PGS2|SLRR1B MIM:125255|HGNC:HGNC:2705|Ensembl:ENSG00000011465|HPRD:00501 12 12q21.33 decorin protein-coding DCN decorin O PG-S2|bone proteoglycan II|decorin proteoglycan|dermatan sulphate proteoglycans II|proteoglycan core protein|small leucine-rich protein 1B 20141219 9606 1635 DCTD - - MIM:607638|HGNC:HGNC:2710|Ensembl:ENSG00000129187|HPRD:09623|Vega:OTTHUMG00000160685 4 4q35.1 dCMP deaminase protein-coding DCTD dCMP deaminase O deoxycytidylate deaminase 20141207 9606 1638 DCT - TRP-2|TYRP2 MIM:191275|HGNC:HGNC:2709|Ensembl:ENSG00000080166|HPRD:01864 13 13q32 dopachrome tautomerase protein-coding DCT dopachrome tautomerase O DT|L-dopachrome Delta-isomerase|L-dopachrome tautomerase|TRP2|dopachrome delta-isomerase|dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2)|tyrosinase-related protein 2|tyrosine-related protein 2 20141207 9606 1644 DDC - AADC MIM:107930|HGNC:HGNC:2719|Ensembl:ENSG00000132437|HPRD:00145|Vega:OTTHUMG00000023353 7 7p12.2 dopa decarboxylase (aromatic L-amino acid decarboxylase) protein-coding DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) O aromatic-L-amino-acid decarboxylase 20141211 9606 1645 AKR1C1 RP11-69D4.1 2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DD1/DD2|DDH|DDH1|H-37|HAKRC|HBAB|MBAB MIM:600449|HGNC:HGNC:384|HPRD:07194 10 10p15-p14 aldo-keto reductase family 1, member C1 protein-coding AKR1C1 aldo-keto reductase family 1, member C1 O 20 alpha-hydroxysteroid dehydrogenase|20-alpha-hydroxysteroid dehydrogenase|aldo-keto reductase C|aldo-keto reductase family 1 member C1|chlordecone reductase homolog HAKRC|dihydrodiol dehydrogenase 1|dihydrodiol dehydrogenase 1/2|dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase|dihydrodiol dehydrogenase isoform DD1|hepatic dihydrodiol dehydrogenase|high-affinity hepatic bile acid-binding protein|indanol dehydrogenase|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase|type II 3-alpha-hydroxysteroid dehydrogenase 20141207 9606 1646 AKR1C2 - AKR1C-pseudo|BABP|DD|DD-2|DD/BABP|DD2|DDH2|HAKRD|HBAB|MCDR2|SRXY8|TDD MIM:600450|HGNC:HGNC:385|Ensembl:ENSG00000151632|HPRD:11857|Vega:OTTHUMG00000017584 10 10p15-p14 aldo-keto reductase family 1, member C2 protein-coding AKR1C2 aldo-keto reductase family 1, member C2 O 3-alpha-HSD3|aldo-keto reductase family 1 member C2|chlordecone reductase homolog HAKRD|dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III|pseudo-chlordecone reductase|testicular 17,20-desmolase deficiency|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase|type II dihydrodiol dehydrogenase 20141207 9606 1650 DDOST OK/SW-cl.45 AGER1|CDG1R|OKSWcl45|OST|OST48|WBP1 MIM:602202|HGNC:HGNC:2728|Ensembl:ENSG00000244038|HPRD:03728|Vega:OTTHUMG00000002844 1 1p36.1 dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) protein-coding DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) O advanced glycation endproduct receptor 1|dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit|dolichyl-diphosphooligosaccharide-protein glycotransferase|oligosaccharyl transferase 48 kDa subunit|oligosaccharyltransferase 48 kDa subunit|oligosaccharyltransferase subunit 48 20141219 9606 1656 DDX6 - HLR2|P54|RCK MIM:600326|HGNC:HGNC:2747|Ensembl:ENSG00000110367|HPRD:02638 11 11q23.3 DEAD (Asp-Glu-Ala-Asp) box helicase 6 protein-coding DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6 O ATP-dependent RNA helicase p54|DEAD (Asp-Glu-Ala-Asp) box polypeptide 6|DEAD box protein 6|DEAD box-6|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)|oncogene RCK|probable ATP-dependent RNA helicase DDX6 20141207 9606 1666 DECR1 - DECR|NADPH|SDR18C1 MIM:222745|HGNC:HGNC:2753|Ensembl:ENSG00000104325|HPRD:01959|Vega:OTTHUMG00000163829 8 8q21.3 2,4-dienoyl CoA reductase 1, mitochondrial protein-coding DECR1 2,4-dienoyl CoA reductase 1, mitochondrial O 2,4-dienoyl-CoA reductase, mitochondrial|4-enoyl-CoA reductase|short chain dehydrogenase/reductase family 18C, member 1 20141207 9606 1678 TIMM8A - DDP|DDP1|DFN1|MTS|TIM8 MIM:300356|HGNC:HGNC:11817|Ensembl:ENSG00000126953|HPRD:02287|Vega:OTTHUMG00000022028 X Xq22.1 translocase of inner mitochondrial membrane 8 homolog A (yeast) protein-coding TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) O X-linked deafness dystonia protein|deafness dystonia protein 1|deafness/dystonia peptide|mitochondrial import inner membrane translocase subunit Tim8 A 20141219 9606 1716 DGUOK - MTDPS3|dGK MIM:601465|HGNC:HGNC:2858|Ensembl:ENSG00000114956|HPRD:03273|Vega:OTTHUMG00000129819 2 2p13 deoxyguanosine kinase protein-coding DGUOK deoxyguanosine kinase O deoxyguanosine kinase, mitochondrial 20141219 9606 1717 DHCR7 - SLOS MIM:602858|HGNC:HGNC:2860|Ensembl:ENSG00000172893|HPRD:04174|Vega:OTTHUMG00000167346 11 11q13.4 7-dehydrocholesterol reductase protein-coding DHCR7 7-dehydrocholesterol reductase O 7-DHC reductase|delta-7-dehydrocholesterol reductase|putative sterol reductase SR-2|sterol delta-7-reductase 20141219 9606 1718 DHCR24 - DCE|Nbla03646|SELADIN1|seladin-1 MIM:606418|HGNC:HGNC:2859|Ensembl:ENSG00000116133|HPRD:05916|Vega:OTTHUMG00000009989 1 1p32.3 24-dehydrocholesterol reductase protein-coding DHCR24 24-dehydrocholesterol reductase O 3 beta-hydroxysterol delta 24-reductase|3-beta-hydroxysterol delta-24-reductase|delta(24)-sterol reductase|desmosterol-to-cholesterol enzyme|diminuto/dwarf1 homolog|seladin 1|selective AD indicator 1 20141207 9606 1719 DHFR - DHFRP1|DYR MIM:126060|HGNC:HGNC:2861|Ensembl:ENSG00000228716|HPRD:00519|Vega:OTTHUMG00000162529 5 5q11.2-q13.2 dihydrofolate reductase protein-coding DHFR dihydrofolate reductase O - 20141207 9606 1723 DHODH - DHOdehase|POADS|URA1 MIM:126064|HGNC:HGNC:2867|Ensembl:ENSG00000102967|HPRD:00521 16 16q22 dihydroorotate dehydrogenase (quinone) protein-coding DHODH dihydroorotate dehydrogenase (quinone) O dihydroorotate dehydrogenase (quinone), mitochondrial|dihydroorotate oxidase|human complement of yeast URA1 20141207 9606 1725 DHPS - DHS|DS|MIG13 MIM:600944|HGNC:HGNC:2869|Ensembl:ENSG00000095059|HPRD:02969|Vega:OTTHUMG00000182618 19 19p13.2 deoxyhypusine synthase protein-coding DHPS deoxyhypusine synthase O migration-inducing gene 13 20141207 9606 1728 NQO1 - DHQU|DIA4|DTD|NMOR1|NMORI|QR1 MIM:125860|HGNC:HGNC:2874|Ensembl:ENSG00000181019|HPRD:00518|Vega:OTTHUMG00000137575 16 16q22.1 NAD(P)H dehydrogenase, quinone 1 protein-coding NQO1 NAD(P)H dehydrogenase, quinone 1 O DT-diaphorase|NAD(P)H dehydrogenase [quinone] 1|NAD(P)H:Quinone acceptor oxidoreductase type 1|NAD(P)H:menadione oxidoreductase 1|NAD(P)H:quinone oxidoreductase 1|NAD(P)H:quinone oxireductase|azoreductase|diaphorase (NADH/NADPH) (cytochrome b-5 reductase)|diaphorase-4|dioxin-inducible 1|menadione reductase|phylloquinone reductase|quinone reductase 1 20141222 9606 1733 DIO1 - 5DI|TXDI1 MIM:147892|HGNC:HGNC:2883|Ensembl:ENSG00000211452|HPRD:01002|Vega:OTTHUMG00000008435 1 1p33-p32 deiodinase, iodothyronine, type I protein-coding DIO1 deiodinase, iodothyronine, type I O DIOI|iodothyronine deiodinase type 1|thyroxine deiodinase type I (selenoprotein)|type 1 DI|type I iodothyronine deiodinase|type-I 5'-deiodinase 20141207 9606 1734 DIO2 - 5DII|D2|DIOII|SelY|TXDI2 MIM:601413|HGNC:HGNC:2884|Ensembl:ENSG00000211448|HPRD:09027|Vega:OTTHUMG00000171443 14 14q24.2-q24.3 deiodinase, iodothyronine, type II protein-coding DIO2 deiodinase, iodothyronine, type II O deiodinase-2|deiodonase-2|thyroxine deiodinase, type II|type 2 DI|type 2 iodothyronine deiodinase|type II iodothyronine deiodinase|type-II 5'-deiodinase|type-II 5'deiodinase 20141207 9606 1735 DIO3 - 5DIII|D3|DIOIII|TXDI3 MIM:601038|HGNC:HGNC:2885|Ensembl:ENSG00000197406|HPRD:11867|Vega:OTTHUMG00000160681 14 14q32 deiodinase, iodothyronine, type III protein-coding DIO3 deiodinase, iodothyronine, type III O iodothyronine deiodinase, placental type|thyroxine deiodinase type III (selenoprotein)|type 3 DI|type 3 iodothyronine selenodeiodinase|type III iodothyronine deiodinase|type-III 5' deiodinase|type-III 5'-deiodinase 20141207 9606 1737 DLAT - DLTA|PDC-E2|PDCE2 MIM:608770|HGNC:HGNC:2896|Ensembl:ENSG00000150768|HPRD:10578|Vega:OTTHUMG00000133751 11 11q23.1 dihydrolipoamide S-acetyltransferase protein-coding DLAT dihydrolipoamide S-acetyltransferase O 70 kDa mitochondrial autoantigen of primary biliary cirrhosis|E2 component of pyruvate dehydrogenase complex|M2 antigen complex 70 kDa subunit|PBC|dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex|dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex mitochondrial|dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial|pyruvate dehydrogenase complex component E2 20141207 9606 1738 DLD tcag7.39 DLDD|DLDH|E3|GCSL|LAD|PHE3 MIM:238331|HGNC:HGNC:2898|Ensembl:ENSG00000091140|HPRD:02006|Vega:OTTHUMG00000154813 7 7q31-q32 dihydrolipoamide dehydrogenase protein-coding DLD dihydrolipoamide dehydrogenase O E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex|diaphorase|dihydrolipoyl dehydrogenase, mitochondrial|glycine cleavage system L protein|glycine cleavage system protein L|lipoamide dehydrogenase|lipoamide reductase|lipoyl dehydrogenase 20141207 9606 1743 DLST - DLTS MIM:126063|HGNC:HGNC:2911|Ensembl:ENSG00000119689|HPRD:00520|Vega:OTTHUMG00000171483 14 14q24.3 dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) protein-coding DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) O E2K|OGDC-E2|dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial 20141207 9606 1757 SARDH RP11-317B10.2 BPR-2|DMGDHL1|SAR|SARD|SDH MIM:604455|HGNC:HGNC:10536|Ensembl:ENSG00000123453|HPRD:06831|Vega:OTTHUMG00000020879 9 9q33-q34 sarcosine dehydrogenase protein-coding SARDH sarcosine dehydrogenase O dimethylglycine dehydrogenase-like 1|sarcosine dehydrogenase, mitochondrial 20141207 9606 1786 DNMT1 - ADCADN|AIM|CXXC9|DNMT|HSN1E|MCMT MIM:126375|HGNC:HGNC:2976|Ensembl:ENSG00000130816|HPRD:00532|Vega:OTTHUMG00000180397 19 19p13.2 DNA (cytosine-5-)-methyltransferase 1 protein-coding DNMT1 DNA (cytosine-5-)-methyltransferase 1 O CXXC-type zinc finger protein 9|DNA (cytosine-5)-methyltransferase 1|DNA MTase HsaI|DNA methyltransferase HsaI|m.HsaI 20141222 9606 1787 TRDMT1 RP11-406H21.1 DMNT2|DNMT2|MHSAIIP|PUMET|RNMT1 MIM:602478|HGNC:HGNC:2977|HPRD:16001 10 10p15.1 tRNA aspartic acid methyltransferase 1 protein-coding TRDMT1 tRNA aspartic acid methyltransferase 1 O DNA (cytosine-5)-methyltransferase-like protein 2|DNA MTase homolog HsaIIP|DNA methyltransferase-2|tRNA (cytosine(38)-C(5))-methyltransferase|tRNA (cytosine-5-)-methyltransferase 20141207 9606 1788 DNMT3A - DNMT3A2|M.HsaIIIA|TBRS MIM:602769|HGNC:HGNC:2978|Ensembl:ENSG00000119772|HPRD:04141|Vega:OTTHUMG00000094777 2 2p23 DNA (cytosine-5-)-methyltransferase 3 alpha protein-coding DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha O DNA (cytosine-5)-methyltransferase 3A|DNA MTase HsaIIIA|DNA cytosine methyltransferase 3A2 20141207 9606 1789 DNMT3B RP5-1085F17.2 ICF|ICF1|M.HsaIIIB MIM:602900|HGNC:HGNC:2979|Ensembl:ENSG00000088305|HPRD:04209|Vega:OTTHUMG00000032226 20 20q11.2 DNA (cytosine-5-)-methyltransferase 3 beta protein-coding DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta O DNA (cytosine-5)-methyltransferase 3B|DNA MTase HsaIIIB|DNA methyltransferase HsaIIIB 20141221 9606 1798 DPAGT1 - ALG7|CDG-Ij|CDG1J|CMSTA2|D11S366|DGPT|DPAGT|DPAGT2|G1PT|GPT|UAGT|UGAT MIM:191350|HGNC:HGNC:2995|Ensembl:ENSG00000172269|HPRD:01879|Vega:OTTHUMG00000153533 11 11q23.3 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) protein-coding DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) O GlcNAc-1-P transferase|N-acetylglucosamine-1-phosphate transferase|UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase|UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase|dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P tra|dolichyl-phosphate alpha-N-acetylglucosaminyltransferase 20141219 9606 1803 DPP4 - ADABP|ADCP2|CD26|DPPIV|TP103 MIM:102720|HGNC:HGNC:3009|Ensembl:ENSG00000197635|HPRD:02187|Vega:OTTHUMG00000132056 2 2q24.3 dipeptidyl-peptidase 4 protein-coding DPP4 dipeptidyl-peptidase 4 O ADCP-2|DPP IV|T-cell activation antigen CD26|adenosine deaminase complexing protein 2|dipeptidyl peptidase 4|dipeptidyl peptidase IV|dipeptidylpeptidase 4|dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2) 20141222 9606 1806 DPYD - DHP|DHPDHASE|DPD MIM:612779|HGNC:HGNC:3012|Ensembl:ENSG00000188641|HPRD:02036|Vega:OTTHUMG00000039683 1 1p22 dihydropyrimidine dehydrogenase protein-coding DPYD dihydropyrimidine dehydrogenase O dihydropyrimidine dehydrogenase [NADP(+)]|dihydrothymine dehydrogenase|dihydrouracil dehydrogenase 20141207 9606 1807 DPYS - DHP|DHPase MIM:613326|HGNC:HGNC:3013|Ensembl:ENSG00000147647|HPRD:01960|Vega:OTTHUMG00000164891 8 8q22 dihydropyrimidinase protein-coding DPYS dihydropyrimidinase O dihydropyrimidine amidohydrolase|hydantoinase 20141207 9606 1841 DTYMK - CDC8|PP3731|TMPK|TYMK MIM:188345|HGNC:HGNC:3061|Ensembl:ENSG00000168393|HPRD:01773|Vega:OTTHUMG00000133409 2 2q37.3 deoxythymidylate kinase (thymidylate kinase) protein-coding DTYMK deoxythymidylate kinase (thymidylate kinase) O dTMP kinase|thymidylate kinase 20141207 9606 1854 DUT - dUTPase MIM:601266|HGNC:HGNC:3078|Ensembl:ENSG00000128951|HPRD:03165|Vega:OTTHUMG00000172155 15 15q21.1 deoxyuridine triphosphatase protein-coding DUT deoxyuridine triphosphatase O dUTP nucleotidohydrolase|dUTP pyrophosphatase|deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial 20141207 9606 1890 TYMP - ECGF|ECGF1|MEDPS1|MNGIE|MTDPS1|PDECGF|TP|hPD-ECGF MIM:131222|HGNC:HGNC:3148|Ensembl:ENSG00000025708|HPRD:08833|Vega:OTTHUMG00000150249 22 22q13.33 thymidine phosphorylase protein-coding TYMP thymidine phosphorylase O gliostatin|tdRPase 20141219 9606 1892 ECHS1 - SCEH MIM:602292|HGNC:HGNC:3151|Ensembl:ENSG00000127884|HPRD:03799|Vega:OTTHUMG00000019320 10 10q26.2-q26.3 enoyl CoA hydratase, short chain, 1, mitochondrial protein-coding ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial O enoyl Coenzyme A hydratase, short chain, 1, mitochondrial|enoyl-CoA hydratase 1|enoyl-CoA hydratase, mitochondrial|short-chain enoyl-CoA hydratase 20141207 9606 1915 EEF1A1 RP11-505P4.2 CCS-3|CCS3|EE1A1|EEF-1|EEF1A|EF-Tu|EF1A|GRAF-1EF|HNGC:16303|LENG7|PTI1|eEF1A-1 MIM:130590|HGNC:HGNC:3189|Ensembl:ENSG00000156508|HPRD:00559 6 6q14.1 eukaryotic translation elongation factor 1 alpha 1 protein-coding EEF1A1 eukaryotic translation elongation factor 1 alpha 1 O CTCL tumor antigen|EF-1-alpha-1|EF1a-like protein|cervical cancer suppressor 3|elongation factor 1 alpha subunit|elongation factor 1-alpha 1|elongation factor Tu|eukaryotic elongation factor 1 A-1|eukaryotic translation elongation factor 1 alpha 1-like 14|glucocorticoid receptor AF-1 specific elongation factor|leukocyte receptor cluster (LRC) member 7|leukocyte receptor cluster member 7|prostate tumor-inducing protein 1|translation elongation factor 1 alpha 1-like 14 20141207 9606 1933 EEF1B2 - EEF1B|EEF1B1|EF1B MIM:600655|HGNC:HGNC:3208|Ensembl:ENSG00000114942|HPRD:02804|Vega:OTTHUMG00000132891 2 2q33.3 eukaryotic translation elongation factor 1 beta 2 protein-coding EEF1B2 eukaryotic translation elongation factor 1 beta 2 O EF-1-beta|elongation factor 1-beta|eukaryotic translation elongation factor 1 beta 1 20141207 9606 1936 EEF1D UNQ601 EF-1D|EF1D|FP1047 MIM:130592|HGNC:HGNC:3211|Ensembl:ENSG00000104529|HPRD:00560|Vega:OTTHUMG00000165191 8 8q24.3 eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) protein-coding EEF1D eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) O EF-1-delta|antigen NY-CO-4|elongation factor 1-delta|guanine nucleotide exchange protein 20141207 9606 1937 EEF1G PRO1608 EF1G|GIG35 MIM:130593|HGNC:HGNC:3213|Ensembl:ENSG00000254772|HPRD:11745|Vega:OTTHUMG00000167567 11 11q12.3 eukaryotic translation elongation factor 1 gamma protein-coding EEF1G eukaryotic translation elongation factor 1 gamma O EF-1-gamma|PRO1608|eEF-1B gamma|elongation factor 1-gamma|pancreatic tumor-related protein|translation elongation factor eEF-1 gamma chain 20141207 9606 1938 EEF2 - EEF-2|EF-2|EF2|SCA26 MIM:130610|HGNC:HGNC:3214|Ensembl:ENSG00000167658|HPRD:00561|Vega:OTTHUMG00000181790 19 19p13.3 eukaryotic translation elongation factor 2 protein-coding EEF2 eukaryotic translation elongation factor 2 O elongation factor 2|polypeptidyl-tRNA translocase 20141207 9606 1962 EHHADH - ECHD|FRTS3|L-PBE|LBFP|LBP|PBFE MIM:607037|HGNC:HGNC:3247|Ensembl:ENSG00000113790|HPRD:06125|Vega:OTTHUMG00000156698 3 3q26.3-q28 enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase protein-coding EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase O 3,2-trans-enoyl-CoA isomerase|L-3-hydroxyacyl-CoA dehydrogenase|L-bifunctional protein, peroxisomal|PBE|enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase|peroxisomal bifunctional enzyme|peroxisomal enoyl-CoA hydratase 20141207 9606 1964 EIF1AX RP11-393H10.1 EIF1A|EIF1AP1|EIF4C|eIF-1A|eIF-4C MIM:300186|HGNC:HGNC:3250|Ensembl:ENSG00000173674|HPRD:02174|Vega:OTTHUMG00000022704 X Xp22.12 eukaryotic translation initiation factor 1A, X-linked protein-coding EIF1AX eukaryotic translation initiation factor 1A, X-linked O Putative eukaryotic translation initiation factor 1A|eIF-1A X isoform|eukaryotic translation initiation factor 1A, X chromosome|eukaryotic translation initiation factor 1A, X-chromosomal|eukaryotic translation initiation factor 4C 20141207 9606 1965 EIF2S1 - EIF-2|EIF-2A|EIF-2alpha|EIF2|EIF2A MIM:603907|HGNC:HGNC:3265|Ensembl:ENSG00000134001|HPRD:04881|Vega:OTTHUMG00000029800 14 14q23.3 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa protein-coding EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa O eIF-2-alpha|eukaryotic translation initiation factor 2 subunit 1|eukaryotic translation initiation factor 2 subunit alpha 20141207 9606 1967 EIF2B1 - EIF2B|EIF2BA MIM:606686|HGNC:HGNC:3257|HPRD:09458 12 12q24.31 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa protein-coding EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa O eIF-2B GDP-GTP exchange factor subunit alpha|translation initiation factor eIF-2B subunit alpha 20141219 9606 1968 EIF2S3 - EIF2|EIF2G|EIF2gamma|eIF-2gA MIM:300161|HGNC:HGNC:3267|HPRD:02155 X Xp22.2-p22.1 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa protein-coding EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa O eIF-2-gamma X|eIF-2gX|eukaryotic translation initiation factor 2 subunit 3|eukaryotic translation initiation factor 2 subunit gamma X|eukaryotic translation initiation factor 2G 20141207 9606 1973 EIF4A1 - DDX2A|EIF-4A|EIF4A|eIF-4A-I|eIF4A-I MIM:602641|HGNC:HGNC:3282|Ensembl:ENSG00000161960|HPRD:04030|Vega:OTTHUMG00000108149 17 17p13 eukaryotic translation initiation factor 4A1 protein-coding EIF4A1 eukaryotic translation initiation factor 4A1 O ATP-dependent RNA helicase eIF4A-1|eukaryotic initiation factor 4A-I|eukaryotic initiation factor 4AI|eukaryotic translation initiation factor 4A 20141207 9606 1974 EIF4A2 - BM-010|DDX2B|EIF4A|EIF4F|eIF-4A-II|eIF4A-II MIM:601102|HGNC:HGNC:3284|Ensembl:ENSG00000156976|HPRD:03062|Vega:OTTHUMG00000156564 3 3q28 eukaryotic translation initiation factor 4A2 protein-coding EIF4A2 eukaryotic translation initiation factor 4A2 O ATP-dependent RNA helicase eIF4A-2|eukaryotic initiation factor 4A-II 20141207 9606 1975 EIF4B - EIF-4B|PRO1843 MIM:603928|HGNC:HGNC:3285|Ensembl:ENSG00000063046|HPRD:04892|Vega:OTTHUMG00000169570 12 12q13.13 eukaryotic translation initiation factor 4B protein-coding EIF4B eukaryotic translation initiation factor 4B O - 20141207 9606 1977 EIF4E - AUTS19|CBP|EIF4E1|EIF4EL1|EIF4F MIM:133440|HGNC:HGNC:3287|HPRD:00591 4 4q23 eukaryotic translation initiation factor 4E protein-coding EIF4E eukaryotic translation initiation factor 4E O eIF-4E|eIF-4F 25 kDa subunit|eukaryotic translation initiation factor 4E-like 1|mRNA cap-binding protein 20141207 9606 1978 EIF4EBP1 - 4E-BP1|4EBP1|BP-1|PHAS-I MIM:602223|HGNC:HGNC:3288|Ensembl:ENSG00000187840|HPRD:03746|Vega:OTTHUMG00000164012 8 8p12 eukaryotic translation initiation factor 4E binding protein 1 protein-coding EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 O eIF4E-binding protein 1|eukaryotic translation initiation factor 4E-binding protein 1|phosphorylated heat- and acid-stable protein regulated by insulin 1 20141222 9606 1981 EIF4G1 - EIF-4G1|EIF4F|EIF4G|EIF4GI|P220|PARK18 MIM:600495|HGNC:HGNC:3296|Ensembl:ENSG00000114867|HPRD:06774|Vega:OTTHUMG00000156784 3 3q27.1 eukaryotic translation initiation factor 4 gamma, 1 protein-coding EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 O EIF4-gamma|eIF-4-gamma 1|eucaryotic translation initiation factor 4G|eukaryotic translation initiation factor 4 gamma 1 20141207 9606 1983 EIF5 - EIF-5|EIF-5A MIM:601710|HGNC:HGNC:3299|Ensembl:ENSG00000100664|HPRD:03417|Vega:OTTHUMG00000171839 14 14q32.32 eukaryotic translation initiation factor 5 protein-coding EIF5 eukaryotic translation initiation factor 5 O - 20141207 9606 1984 EIF5A - EIF-5A|EIF5A1|eIF5AI MIM:600187|HGNC:HGNC:3300|Ensembl:ENSG00000132507|HPRD:02555|Vega:OTTHUMG00000102197 17 17p13-p12 eukaryotic translation initiation factor 5A protein-coding EIF5A eukaryotic translation initiation factor 5A O eIF-4D|eIF-5A-1|eIF-5A1|eukaryotic initiation factor 5A|eukaryotic translation initiation factor 5A-1|rev-binding factor 20141207 9606 1994 ELAVL1 - ELAV1|HUR|Hua|MelG MIM:603466|HGNC:HGNC:3312|Ensembl:ENSG00000066044|HPRD:16025|Vega:OTTHUMG00000182470 19 19p13.2 ELAV like RNA binding protein 1 protein-coding ELAVL1 ELAV like RNA binding protein 1 O ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)|ELAV-like protein 1|Hu antigen R|embryonic lethal, abnormal vision, drosophila, homolog-like 1|hu-antigen R 20141222 9606 2023 ENO1 - ENO1L1|MPB1|NNE|PPH MIM:172430|HGNC:HGNC:3350|Ensembl:ENSG00000074800|HPRD:01400|Vega:OTTHUMG00000001773 1 1p36.2 enolase 1, (alpha) protein-coding ENO1 enolase 1, (alpha) O 2-phospho-D-glycerate hydro-lyase|MYC promoter-binding protein 1|alpha enolase like 1|alpha-enolase|enolase-alpha|non-neural enolase|phosphopyruvate hydratase|plasminogen-binding protein|tau-crystallin 20141222 9606 2026 ENO2 - HEL-S-279|NSE MIM:131360|HGNC:HGNC:3353|Ensembl:ENSG00000111674|HPRD:00573|Vega:OTTHUMG00000168967 12 12p13 enolase 2 (gamma, neuronal) protein-coding ENO2 enolase 2 (gamma, neuronal) O 2-phospho-D-glycerate hydro-lyase|2-phospho-D-glycerate hydrolyase|epididymis secretory protein Li 279|gamma-enolase|neural enolase|neuron specific gamma enolase|neuron-specific enolase|neurone-specific enolase 20141207 9606 2027 ENO3 - GSD13|MSE MIM:131370|HGNC:HGNC:3354|Ensembl:ENSG00000108515|HPRD:11746|Vega:OTTHUMG00000099394 17 17p13.2 enolase 3 (beta, muscle) protein-coding ENO3 enolase 3 (beta, muscle) O 2-phospho-D-glycerate hydrolyase|beta-enolase|muscle-specific enolase|skeletal muscle enolase 20141207 9606 2033 EP300 RP1-85F18.1 KAT3B|RSTS2|p300 MIM:602700|HGNC:HGNC:3373|Ensembl:ENSG00000100393|HPRD:04078|Vega:OTTHUMG00000150937 22 22q13.2 E1A binding protein p300 protein-coding EP300 E1A binding protein p300 O E1A-associated protein p300|E1A-binding protein, 300kD|histone acetyltransferase p300|p300 HAT 20141222 9606 2052 EPHX1 - EPHX|EPOX|HYL1|MEH MIM:132810|HGNC:HGNC:3401|Ensembl:ENSG00000143819|HPRD:00581|Vega:OTTHUMG00000037743 1 1q42.1 epoxide hydrolase 1, microsomal (xenobiotic) protein-coding EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) O epoxide hydratase|epoxide hydrolase 1 20141207 9606 2053 EPHX2 - CEH|SEH MIM:132811|HGNC:HGNC:3402|Ensembl:ENSG00000120915|HPRD:00582|Vega:OTTHUMG00000102115 8 8p21 epoxide hydrolase 2, cytoplasmic protein-coding EPHX2 epoxide hydrolase 2, cytoplasmic O bifunctional epoxide hydrolase 2|epoxide hydratase|epoxide hydrolase 2, cytosolic|epoxide hydrolase, soluble 20141207 9606 2058 EPRS PIG32 EARS|GLUPRORS|PARS|QARS|QPRS MIM:138295|HGNC:HGNC:3418|Ensembl:ENSG00000136628|HPRD:00703|Vega:OTTHUMG00000037433 1 1q41 glutamyl-prolyl-tRNA synthetase protein-coding EPRS glutamyl-prolyl-tRNA synthetase O bifunctional aminoacyl-tRNA synthetase|bifunctional glutamate/proline--tRNA ligase|cell proliferation-inducing gene 32 protein|glutamate tRNA ligase|glutamatyl-prolyl-tRNA synthetase|glutaminyl-tRNA synthetase|proliferation-inducing gene 32 protein|proliferation-inducing protein 32|proline tRNA ligase|proline-tRNA ligase|prolyl-tRNA synthetase 20141207 9606 2101 ESRRA - ERR1|ERRa|ERRalpha|ESRL1|NR3B1 MIM:601998|HGNC:HGNC:3471|Ensembl:ENSG00000173153|HPRD:07210|Vega:OTTHUMG00000150641 11 11q13 estrogen-related receptor alpha protein-coding ESRRA estrogen-related receptor alpha O ERR-alpha|estrogen receptor-like 1|estrogen-related nuclear receptor alpha|nuclear receptor subfamily 3 group B member 1|steroid hormone receptor ERR1 20141207 9606 2107 ETF1 - D5S1995|ERF|ERF1|RF1|SUP45L1|TB3-1 MIM:600285|HGNC:HGNC:3477|Ensembl:ENSG00000120705|HPRD:02616|Vega:OTTHUMG00000129199 5 5q31.1 eukaryotic translation termination factor 1 protein-coding ETF1 eukaryotic translation termination factor 1 O eukaryotic peptide chain release factor subunit 1|polypeptide chain release factor 1|protein Cl1|sup45 (yeast omnipotent suppressor 45) homolog-like 1 20141207 9606 2131 EXT1 - EXT|LGCR|LGS|TRPS2|TTV MIM:608177|HGNC:HGNC:3512|HPRD:00598 8 8q24.11 exostosin glycosyltransferase 1 protein-coding EXT1 exostosin glycosyltransferase 1 O Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|Langer-Giedion syndrome chromosome region|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostoses (multiple) 1|exostosin 1|exostosin-1|glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|multiple exostoses protein 1|putative tumor suppressor protein EXT1 20141219 9606 2132 EXT2 - SOTV MIM:608210|HGNC:HGNC:3513|Ensembl:ENSG00000151348|HPRD:00599|Vega:OTTHUMG00000166498 11 11p12-p11 exostosin glycosyltransferase 2 protein-coding EXT2 exostosin glycosyltransferase 2 O N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostosin-2|glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|multiple exostoses protein 2|putative tumor suppressor protein EXT2 20141219 9606 2147 F2 - PT|RPRGL2|THPH1 MIM:176930|HGNC:HGNC:3535|Ensembl:ENSG00000180210|HPRD:01488|Vega:OTTHUMG00000150344 11 11p11 coagulation factor II (thrombin) protein-coding F2 coagulation factor II (thrombin) O prepro-coagulation factor II|prothrombin|prothrombin B-chain|serine protease 20141222 9606 2155 F7 - SPCA MIM:613878|HGNC:HGNC:3544|Ensembl:ENSG00000057593|HPRD:01965|Vega:OTTHUMG00000017373 13 13q34 coagulation factor VII (serum prothrombin conversion accelerator) protein-coding F7 coagulation factor VII (serum prothrombin conversion accelerator) O FVII coagulation protein|coagulation factor VII|eptacog alfa|proconvertin 20141207 9606 2158 F9 RP6-88D7.1 FIX|HEMB|P19|PTC|THPH8 MIM:300746|HGNC:HGNC:3551|Ensembl:ENSG00000101981|HPRD:02385|Vega:OTTHUMG00000022536 X Xq27.1-q27.2 coagulation factor IX protein-coding F9 coagulation factor IX O Christmas factor|F9 p22|FIX F9|factor 9|factor IX F9|plasma thromboplastic component|plasma thromboplastin component 20141219 9606 2159 F10 RP11-98F14.9 FX|FXA MIM:613872|HGNC:HGNC:3528|Ensembl:ENSG00000126218|HPRD:01966|Vega:OTTHUMG00000017374 13 13q34 coagulation factor X protein-coding F10 coagulation factor X O Stuart-Prower factor|factor Xa|prothrombinase 20141207 9606 2167 FABP4 - A-FABP|AFABP|ALBP|HEL-S-104|aP2 MIM:600434|HGNC:HGNC:3559|Ensembl:ENSG00000170323|HPRD:02698|Vega:OTTHUMG00000164602 8 8q21 fatty acid binding protein 4, adipocyte protein-coding FABP4 fatty acid binding protein 4, adipocyte O adipocyte lipid-binding protein|adipocyte-type fatty acid-binding protein|epididymis secretory protein Li 104|fatty acid-binding protein 4|fatty acid-binding protein, adipocyte 20141222 9606 2168 FABP1 - FABPL|L-FABP MIM:134650|HGNC:HGNC:3555|Ensembl:ENSG00000163586|HPRD:00612|Vega:OTTHUMG00000130312 2 2p11 fatty acid binding protein 1, liver protein-coding FABP1 fatty acid binding protein 1, liver O fatty acid-binding protein 1|fatty acid-binding protein, liver|liver-type fatty acid-binding protein 20141207 9606 2172 FABP6 - I-15P|I-BABP|I-BALB|I-BAP|ILBP|ILBP3|ILLBP MIM:600422|HGNC:HGNC:3561|Ensembl:ENSG00000170231|HPRD:02689|Vega:OTTHUMG00000130329 5 5q33.3-q34 fatty acid binding protein 6, ileal protein-coding FABP6 fatty acid binding protein 6, ileal O GT|gastrotropin|ileal bile acid binding protein|ileal lipid-binding protein|illeal lipid-binding protein|intestinal 15 kDa protein 20141207 9606 2180 ACSL1 - ACS1|FACL1|FACL2|LACS|LACS1|LACS2 MIM:152425|HGNC:HGNC:3569|Ensembl:ENSG00000151726|HPRD:01068|Vega:OTTHUMG00000160547 4 4q35.1 acyl-CoA synthetase long-chain family member 1 protein-coding ACSL1 acyl-CoA synthetase long-chain family member 1 O LACS 1|LACS 2|acyl-CoA synthetase 1|fatty-acid-Coenzyme A ligase, long-chain 1|fatty-acid-Coenzyme A ligase, long-chain 2|lignoceroyl-CoA synthase|long-chain acyl-CoA synthetase 1|long-chain acyl-CoA synthetase 2|long-chain fatty acid-CoA ligase 2|long-chain fatty-acid-coenzyme A ligase 1|long-chain-fatty-acid--CoA ligase 1|palmitoyl-CoA ligase 1|palmitoyl-CoA ligase 2|paltimoyl-CoA ligase 1 20141207 9606 2181 ACSL3 - ACS3|FACL3|PRO2194 MIM:602371|HGNC:HGNC:3570|HPRD:03845 2 2q34-q35 acyl-CoA synthetase long-chain family member 3 protein-coding ACSL3 acyl-CoA synthetase long-chain family member 3 O LACS 3|fatty-acid-Coenzyme A ligase, long-chain 3|lignoceroyl-CoA synthase|long-chain acyl-CoA synthetase 3|long-chain-fatty-acid--CoA ligase 3 20141207 9606 2182 ACSL4 - ACS4|FACL4|LACS4|MRX63|MRX68 MIM:300157|HGNC:HGNC:3571|Ensembl:ENSG00000068366|HPRD:02152|Vega:OTTHUMG00000022190 X Xq22.3-q23 acyl-CoA synthetase long-chain family member 4 protein-coding ACSL4 acyl-CoA synthetase long-chain family member 4 O LACS 4|acyl-CoA synthetase 4|fatty-acid-Coenzyme A ligase, long-chain 4|lignoceroyl-CoA synthase|long-chain acyl-CoA synthetase 4|long-chain fatty-acid-Coenzyme A ligase 4|long-chain-fatty-acid--CoA ligase 4 20141207 9606 2184 FAH - - MIM:613871|HGNC:HGNC:3579|Ensembl:ENSG00000103876|HPRD:02040|Vega:OTTHUMG00000144187 15 15q25.1 fumarylacetoacetate hydrolase (fumarylacetoacetase) protein-coding FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) O FAA|beta-diketonase|fumarylacetoacetase 20141222 9606 2194 FASN - FAS|OA-519|SDR27X1 MIM:600212|HGNC:HGNC:3594|Ensembl:ENSG00000169710|HPRD:02567|Vega:OTTHUMG00000178527 17 17q25 fatty acid synthase protein-coding FASN fatty acid synthase O short chain dehydrogenase/reductase family 27X, member 1 20141207 9606 2197 FAU - FAU1|Fub1|Fubi|MNSFbeta|RPS30|S30|asr1 MIM:134690|HGNC:HGNC:3597|HPRD:00002 11 11q13 Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed protein-coding FAU Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed O 40S ribosomal protein S30|FAU-encoded ubiquitin-like protein|FBR-MuSV-associated ubiquitously expressed|Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived)|monoclonal nonspecific suppressor factor beta|ribosomal protein S30|ubiquitin-like protein fubi and ribosomal protein S30|ubiquitin-like-S30 fusion protein 20141207 9606 2203 FBP1 RP11-342C23.1 FBP MIM:611570|HGNC:HGNC:3606|Ensembl:ENSG00000165140|HPRD:01973|Vega:OTTHUMG00000020268 9 9q22.3 fructose-1,6-bisphosphatase 1 protein-coding FBP1 fructose-1,6-bisphosphatase 1 O D-fructose-1,6-bisphosphate 1-phosphohydrolase 1|FBPase 1|fructose-bisphosphatase 1|growth-inhibiting protein 17|liver FBPase 20141207 9606 2222 FDFT1 - DGPT|ERG9|SQS|SS MIM:184420|HGNC:HGNC:3629|Ensembl:ENSG00000079459|HPRD:01694|Vega:OTTHUMG00000090801 8 8p23.1-p22 farnesyl-diphosphate farnesyltransferase 1 protein-coding FDFT1 farnesyl-diphosphate farnesyltransferase 1 O FPP:FPP farnesyltransferase|presqualene-di-diphosphate synthase|squalene synthase|squalene synthetase 20141207 9606 2224 FDPS - FPPS|FPS MIM:134629|HGNC:HGNC:3631|Ensembl:ENSG00000160752|HPRD:00606|Vega:OTTHUMG00000013909 1 1q22 farnesyl diphosphate synthase protein-coding FDPS farnesyl diphosphate synthase O (2E,6E)-farnesyl diphosphate synthase|FPP synthase|FPP synthetase|dimethylallyltranstransferase|farnesyl pyrophosphate synthase|farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase|geranyltranstransferase 20141207 9606 2235 FECH - EPP|FCE MIM:612386|HGNC:HGNC:3647|HPRD:01509 18 18q21.3 ferrochelatase protein-coding FECH ferrochelatase O ferrochelatase, mitochondrial|heme synthase|heme synthetase|protoheme ferro-lyase|protoporphyria 20141219 9606 2239 GPC4 RP6-198C21.1 K-glypican MIM:300168|HGNC:HGNC:4452|HPRD:02160 X Xq26.1 glypican 4 protein-coding GPC4 glypican 4 O dJ900E8.1 (glypican 4)|glypican proteoglycan 4|glypican-4 20141219 9606 2262 GPC5 - - MIM:602446|HGNC:HGNC:4453|Ensembl:ENSG00000179399|HPRD:03902|Vega:OTTHUMG00000017200 13 13q32 glypican 5 protein-coding GPC5 glypican 5 O bA93M14.1|glypican proteoglycan 5|glypican-5 20141207 9606 2271 FH - HLRCC|LRCC|MCL|MCUL1 MIM:136850|HGNC:HGNC:3700|Ensembl:ENSG00000091483|HPRD:00652|Vega:OTTHUMG00000039597 1 1q42.1 fumarate hydratase protein-coding FH fumarate hydratase O fumarase|fumarate hydratase, mitochondrial 20141222 9606 2272 FHIT - AP3Aase|FRA3B MIM:601153|HGNC:HGNC:3701|Ensembl:ENSG00000189283|HPRD:03096|Vega:OTTHUMG00000158591 3 3p14.2 fragile histidine triad protein-coding FHIT fragile histidine triad O AP3A hydrolase|bis(5'-adenosyl)-triphosphatase|diadenosine 5',5'''-P1,P3-triphosphate hydrolase|dinucleosidetriphosphatase|tumor suppressor protein 20141207 9606 2274 FHL2 - AAG11|DRAL|FHL-2|SLIM-3|SLIM3 MIM:602633|HGNC:HGNC:3703|Ensembl:ENSG00000115641|HPRD:04026|Vega:OTTHUMG00000153120 2 2q12.2 four and a half LIM domains 2 protein-coding FHL2 four and a half LIM domains 2 O LIM domain protein DRAL|aging-associated gene 11|down-regulated in rhabdomyosarcoma LIM protein|four and a half LIM domains protein 2|skeletal muscle LIM-protein 3 20141207 9606 2326 FMO1 - - MIM:136130|HGNC:HGNC:3769|Ensembl:ENSG00000010932|HPRD:00631|Vega:OTTHUMG00000035502 1 1q24.3 flavin containing monooxygenase 1 protein-coding FMO1 flavin containing monooxygenase 1 O FMO 1|Flavin-containing monooxygenase 1 (fetal liver)|dimethylaniline monooxygenase [N-oxide-forming] 1|dimethylaniline oxidase 1|fetal hepatic flavin-containing monooxygenase 1 20141207 9606 2327 FMO2 - FMO1B1 MIM:603955|HGNC:HGNC:3770|HPRD:04903 1 1q24.3 flavin containing monooxygenase 2 (non-functional) protein-coding FMO2 flavin containing monooxygenase 2 (non-functional) O FMO, pulmonary|dimethylaniline monooxygenase [N-oxide-forming] 2|dimethylaniline oxidase 2|pulmonary flavin-containing monooxygenase 2 20141207 9606 2328 FMO3 - FMOII|TMAU|dJ127D3.1 MIM:136132|HGNC:HGNC:3771|Ensembl:ENSG00000007933|HPRD:00633|Vega:OTTHUMG00000035505 1 1q24.3 flavin containing monooxygenase 3 protein-coding FMO3 flavin containing monooxygenase 3 O FMO 3|FMO II|FMO form 2|dimethylaniline monooxygenase [N-oxide-forming] 3|dimethylaniline oxidase 3|hepatic flavin-containing monooxygenase 3|hepatic flavin-containing monooxygenase-3|trimethylamine monooxygenase 20141219 9606 2329 FMO4 - FMO2 MIM:136131|HGNC:HGNC:3772|Ensembl:ENSG00000076258|HPRD:00632|Vega:OTTHUMG00000035506 1 1q24.3 flavin containing monooxygenase 4 protein-coding FMO4 flavin containing monooxygenase 4 O FMO 4|dimethylaniline monooxygenase [N-oxide-forming] 4|dimethylaniline oxidase 4|hepatic flavin-containing monooxygenase 4 20141207 9606 2330 FMO5 RP11-337C18.2 - MIM:603957|HGNC:HGNC:3773|Ensembl:ENSG00000131781|HPRD:04904|Vega:OTTHUMG00000014607 1 1q21.1 flavin containing monooxygenase 5 protein-coding FMO5 flavin containing monooxygenase 5 O FMO 5|dimethylaniline monooxygenase [N-oxide-forming] 5|dimethylaniline oxidase 5|hepatic flavin-containing monooxygenase 5 20141207 9606 2331 FMOD - FM|SLRR2E MIM:600245|HGNC:HGNC:3774|Ensembl:ENSG00000122176|HPRD:02591|Vega:OTTHUMG00000035910 1 1q32 fibromodulin protein-coding FMOD fibromodulin O KSPG fibromodulin|collagen-binding 59 kDa protein|keratan sulfate proteoglycan fibromodulin 20141207 9606 2356 FPGS RP11-228B15.1 - MIM:136510|HGNC:HGNC:3824|Ensembl:ENSG00000136877|HPRD:00642|Vega:OTTHUMG00000020716 9 9q34.1 folylpolyglutamate synthase protein-coding FPGS folylpolyglutamate synthase O folylpoly-gamma-glutamate synthetase|folylpolyglutamate synthase, mitochondrial|tetrahydrofolate synthase|tetrahydrofolylpolyglutamate synthase 20141207 9606 2395 FXN - CyaY|FA|FARR|FRDA|X25 MIM:606829|HGNC:HGNC:3951|Ensembl:ENSG00000165060|HPRD:06013 9 9q21.11 frataxin protein-coding FXN frataxin O Friedreich ataxia protein|frataxin, mitochondrial 20141222 9606 2475 MTOR - FRAP|FRAP1|FRAP2|RAFT1|RAPT1 MIM:601231|HGNC:HGNC:3942|Ensembl:ENSG00000198793|HPRD:03134|Vega:OTTHUMG00000002001 1 1p36.2 mechanistic target of rapamycin (serine/threonine kinase) protein-coding MTOR mechanistic target of rapamycin (serine/threonine kinase) O FK506 binding protein 12-rapamycin associated protein 2|FK506-binding protein 12-rapamycin complex-associated protein 1|FKBP-rapamycin associated protein|FKBP12-rapamycin complex-associated protein 1|mammalian target of rapamycin|rapamycin and FKBP12 target 1|rapamycin associated protein FRAP2|rapamycin target protein 1|serine/threonine-protein kinase mTOR 20141222 9606 2488 FSHB - - MIM:136530|HGNC:HGNC:3964|Ensembl:ENSG00000131808|HPRD:00644|Vega:OTTHUMG00000166146 11 11p13 follicle stimulating hormone, beta polypeptide protein-coding FSHB follicle stimulating hormone, beta polypeptide O FSH-B|FSH-beta|follicle-stimulating hormone beta subunit|follitropin beta chain|follitropin subunit beta|follitropin, beta chain 20141207 9606 2495 FTH1 OK/SW-cl.84 FHC|FTH|FTHL6|HFE5|PIG15|PLIF MIM:134770|HGNC:HGNC:3976|Ensembl:ENSG00000167996|HPRD:00615|Vega:OTTHUMG00000166217 11 11q13 ferritin, heavy polypeptide 1 protein-coding FTH1 ferritin, heavy polypeptide 1 O apoferritin|cell proliferation-inducing gene 15 protein|ferritin H subunit|ferritin heavy chain|placenta immunoregulatory factor|proliferation-inducing protein 15 20141207 9606 2530 FUT8 - - MIM:602589|HGNC:HGNC:4019|Ensembl:ENSG00000033170|HPRD:03994|Vega:OTTHUMG00000142818 14 14q24.3 fucosyltransferase 8 (alpha (1,6) fucosyltransferase) protein-coding FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase) O GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase|GDP-fucose--glycoprotein fucosyltransferase|alpha-(1,6)-fucosyltransferase|alpha1-6FucT|glycoprotein 6-alpha-L-fucosyltransferase 20141207 9606 2531 KDSR - DHSR|FVT1|SDR35C1 MIM:136440|HGNC:HGNC:4021|Ensembl:ENSG00000119537|HPRD:00640|Vega:OTTHUMG00000132792 18 18q21.3 3-ketodihydrosphingosine reductase protein-coding KDSR 3-ketodihydrosphingosine reductase O 3-dehydrosphinganine reductase|FVT-1|KDS reductase|follicular lymphoma variant translocation 1|follicular variant translocation protein 1|short chain dehydrogenase/reductase family 35C, member 1 20141207 9606 2538 G6PC - G6PC1|G6PT|GSD1|GSD1a MIM:613742|HGNC:HGNC:4056|HPRD:01983 17 17q21 glucose-6-phosphatase, catalytic subunit protein-coding G6PC glucose-6-phosphatase, catalytic subunit O G-6-Pase|G6Pase|G6Pase-alpha|glucose-6-phosphatase|glucose-6-phosphatase alpha 20141219 9606 2539 G6PD - G6PD1 MIM:305900|HGNC:HGNC:4057|Ensembl:ENSG00000160211|HPRD:02377|Vega:OTTHUMG00000024237 X Xq28 glucose-6-phosphate dehydrogenase protein-coding G6PD glucose-6-phosphate dehydrogenase O glucose-6-phosphate 1-dehydrogenase 20141222 9606 2542 SLC37A4 PRO0685 G6PT1|G6PT2|G6PT3|GSD1b|GSD1c|GSD1d|TRG-19|TRG19 MIM:602671|HGNC:HGNC:4061|Ensembl:ENSG00000137700|HPRD:04052 11 11q23.3 solute carrier family 37 (glucose-6-phosphate transporter), member 4 protein-coding SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 O glucose-5-phosphate transporter|glucose-6-phosphatase, transport (glucose) protein 3|glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1|glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2|glucose-6-phosphate translocase|microsomal glucose-6-phosphate transporter|transformation-related gene 19 protein 20141219 9606 2548 GAA - LYAG MIM:606800|HGNC:HGNC:4065|Ensembl:ENSG00000171298|HPRD:06006|Vega:OTTHUMG00000177537 17 17q25.2-q25.3 glucosidase, alpha; acid protein-coding GAA glucosidase, alpha; acid O acid maltase|aglucosidase alfa|lysosomal alpha-glucosidase 20141219 9606 2571 GAD1 - CPSQ1|GAD|SCP MIM:605363|HGNC:HGNC:4092|Ensembl:ENSG00000128683|HPRD:12011|Vega:OTTHUMG00000044175 2 2q31 glutamate decarboxylase 1 (brain, 67kDa) protein-coding GAD1 glutamate decarboxylase 1 (brain, 67kDa) O 67 kDa glutamic acid decarboxylase|GAD-67|glutamate decarboxylase 1|glutamate decarboxylase 67 kDa isoform 20141222 9606 2572 GAD2 RP11-420F12.2 GAD65 MIM:138275|HGNC:HGNC:4093|Ensembl:ENSG00000136750|HPRD:11817|Vega:OTTHUMG00000017836 10 10p11.23 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) protein-coding GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) O 65 kDa glutamic acid decarboxylase|GAD-65|Glutamate decarboxylase-2 (pancreas)|glutamate decarboxylase 2|glutamate decarboxylase 65 kDa isoform 20141222 9606 2581 GALC - - MIM:606890|HGNC:HGNC:4115|Ensembl:ENSG00000054983|HPRD:06057|Vega:OTTHUMG00000028646 14 14q31 galactosylceramidase protein-coding GALC galactosylceramidase O GALCERase|galactocerebrosidase|galactocerebroside beta-galactosidase|galactosylceramide beta-galactosidase|galactosylceraminidase 20141219 9606 2582 GALE RP5-886K2.6 SDR1E1 MIM:606953|HGNC:HGNC:4116|Ensembl:ENSG00000117308|HPRD:06092|Vega:OTTHUMG00000002958 1 1p36-p35 UDP-galactose-4-epimerase protein-coding GALE UDP-galactose-4-epimerase O UDP galactose-4'-epimerase|UDP-GalNAc 4-epimerase|UDP-GlcNAc 4-epimerase|UDP-N-acetylgalactosamine 4-epimerase|UDP-N-acetylglucosamine 4-epimerase|UDP-galactose 4-epimerase|UDP-glucose 4-epimerase|galactose-4-epimerase, UDP-|galactowaldenase|short chain dehydrogenase/reductase family 1E, member 1 20141219 9606 2584 GALK1 - GALK|GK1|HEL-S-19 MIM:604313|HGNC:HGNC:4118|Ensembl:ENSG00000108479|HPRD:05057|Vega:OTTHUMG00000179832 17 17q24 galactokinase 1 protein-coding GALK1 galactokinase 1 O epididymis secretory protein Li 19|galactokinase|galactose kinase 20141207 9606 2585 GALK2 - GK2 MIM:137028|HGNC:HGNC:4119|HPRD:00657 15 15q21.1-q21.2 galactokinase 2 protein-coding GALK2 galactokinase 2 O N-acetylgalactosamine kinase|galNAc kinase 20141207 9606 2589 GALNT1 - GALNAC-T1 MIM:602273|HGNC:HGNC:4123|Ensembl:ENSG00000141429|HPRD:03781|Vega:OTTHUMG00000132567 18 18q12.1 polypeptide N-acetylgalactosaminyltransferase 1 protein-coding GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 O GalNAc transferase 1|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)|polypeptide GalNAc transferase 1|pp-GaNTase 1|protein-UDP acetylgalactosaminyltransferase 1 20141207 9606 2590 GALNT2 RP5-956O18.1 GalNAc-T2 MIM:602274|HGNC:HGNC:4124|Ensembl:ENSG00000143641|HPRD:03782|Vega:OTTHUMG00000037771 1 1q41-q42 polypeptide N-acetylgalactosaminyltransferase 2 protein-coding GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 O UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)|polypeptide GalNAc transferase 2|pp-GaNTase 2 20141222 9606 2591 GALNT3 - GalNAc-T3|HFTC|HHS MIM:601756|HGNC:HGNC:4125|Ensembl:ENSG00000115339|HPRD:03453|Vega:OTTHUMG00000132157 2 2q24-q31 polypeptide N-acetylgalactosaminyltransferase 3 protein-coding GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 O GalNAc transferase 3|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)|polypeptide GalNAc transferase 3|polypeptide GalNAc-transferase T3|pp-GaNTase 3|protein-UDP acetylgalactosaminyltransferase 3 20141219 9606 2592 GALT hCG_2040046 - MIM:606999|HGNC:HGNC:4135|Ensembl:ENSG00000213930|HPRD:06106 9 9p13 galactose-1-phosphate uridylyltransferase protein-coding GALT galactose-1-phosphate uridylyltransferase O UDP-glucose--hexose-1-phosphate uridylyltransferase|gal-1-P uridylyltransferase|galactose-1-phosphate uridyl transferase 20141219 9606 2593 GAMT - CCDS2|HEL-S-20|PIG2|TP53I2 MIM:601240|HGNC:HGNC:4136|Ensembl:ENSG00000130005|HPRD:03142|Vega:OTTHUMG00000180095 19 19p13.3 guanidinoacetate N-methyltransferase protein-coding GAMT guanidinoacetate N-methyltransferase O epididymis secretory protein Li 20 20141219 9606 2595 GANC - - MIM:104180|HGNC:HGNC:4139|HPRD:00077 15 15q15.2 glucosidase, alpha; neutral C protein-coding GANC glucosidase, alpha; neutral C O neutral alpha-glucosidase C 20141207 9606 2597 GAPDH CDABP0047 G3PD|GAPD|HEL-S-162eP MIM:138400|HGNC:HGNC:4141|Ensembl:ENSG00000111640|HPRD:00713|Vega:OTTHUMG00000137379 12 12p13 glyceraldehyde-3-phosphate dehydrogenase protein-coding GAPDH glyceraldehyde-3-phosphate dehydrogenase O aging-associated gene 9 protein|epididymis secretory sperm binding protein Li 162eP|peptidyl-cysteine S-nitrosylase GAPDH 20141222 9606 2618 GART - AIRS|GARS|GARTF|PAIS|PGFT|PRGS MIM:138440|HGNC:HGNC:4163|Ensembl:ENSG00000159131|HPRD:00716|Vega:OTTHUMG00000065628 21 21q22.11 phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase protein-coding GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase O trifunctional purine biosynthetic protein adenosine-3 20141207 9606 2626 GATA4 - ASD2|TACHD|TOF|VSD1 MIM:600576|HGNC:HGNC:4173|Ensembl:ENSG00000136574|HPRD:08994|Vega:OTTHUMG00000090800 8 8p23.1-p22 GATA binding protein 4 protein-coding GATA4 GATA binding protein 4 O GATA-binding factor 4|transcription factor GATA-4 20141207 9606 2628 GATM - AGAT|AT|CCDS3 MIM:602360|HGNC:HGNC:4175|Ensembl:ENSG00000171766|HPRD:03838|Vega:OTTHUMG00000131427 15 15q21.1 glycine amidinotransferase (L-arginine:glycine amidinotransferase) protein-coding GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) O glycine amidinotransferase, mitochondrial|transamidinase 20141219 9606 2629 GBA - GBA1|GCB|GLUC MIM:606463|HGNC:HGNC:4177|Ensembl:ENSG00000177628|HPRD:06973|Vega:OTTHUMG00000035841 1 1q21 glucosidase, beta, acid protein-coding GBA glucosidase, beta, acid O D-glucosyl-N-acylsphingosine glucohydrolase|acid beta-glucosidase|alglucerase|beta-GC|beta-glucocerebrosidase|glucosylceramidase|glucosylceramidase-like protein|imiglucerase|lysosomal glucocerebrosidase 20141219 9606 2632 GBE1 - APBD|GBE|GSD4 MIM:607839|HGNC:HGNC:4180|Ensembl:ENSG00000114480|HPRD:01985|Vega:OTTHUMG00000158978 3 3p12.3 glucan (1,4-alpha-), branching enzyme 1 protein-coding GBE1 glucan (1,4-alpha-), branching enzyme 1 O 1,4-alpha-glucan-branching enzyme|amylo-(1,4 to 1,6) transglucosidase|amylo-(1,4 to 1,6) transglycosylase|brancher enzyme|glycogen branching enzyme|glycogen-branching enzyme 20141219 9606 2638 GC - DBP|DBP/GC|GRD3|HEL-S-51|VDBG|VDBP MIM:139200|HGNC:HGNC:4187|Ensembl:ENSG00000145321|HPRD:00749|Vega:OTTHUMG00000129915 4 4q12-q13 group-specific component (vitamin D binding protein) protein-coding GC group-specific component (vitamin D binding protein) O VDB|epididymis secretory protein Li 51|gc-globulin|vitamin D-binding alpha-globulin|vitamin D-binding protein 20141207 9606 2639 GCDH - ACAD5|GCD MIM:608801|HGNC:HGNC:4189|Ensembl:ENSG00000105607|HPRD:01977|Vega:OTTHUMG00000180561 19 19p13.2 glutaryl-CoA dehydrogenase protein-coding GCDH glutaryl-CoA dehydrogenase O glutaryl-CoA dehydrogenase, mitochondrial|glutaryl-Coenzyme A dehydrogenase 20141211 9606 2641 GCG - GLP1|GLP2|GRPP MIM:138030|HGNC:HGNC:4191|Ensembl:ENSG00000115263|HPRD:00676|Vega:OTTHUMG00000153892 2 2q36-q37 glucagon protein-coding GCG glucagon O glicentin-related polypeptide|glucagon-like peptide 1|glucagon-like peptide 2|preproglucagon 20141207 9606 2642 GCGR - GGR|GL-R MIM:138033|HGNC:HGNC:4192|Ensembl:ENSG00000215644|HPRD:00678|Vega:OTTHUMG00000177914 17 17q25 glucagon receptor protein-coding GCGR glucagon receptor O - 20141207 9606 2645 GCK - FGQTL3|GK|GLK|HHF3|HK4|HKIV|HXKP|LGLK|MODY2 MIM:138079|HGNC:HGNC:4195|Ensembl:ENSG00000106633|HPRD:00680|Vega:OTTHUMG00000022903 7 7p15.3-p15.1 glucokinase (hexokinase 4) protein-coding GCK glucokinase (hexokinase 4) O ATP:D-hexose 6-phosphotransferase|HK IV|glucokinase|hexokinase D, pancreatic isozyme|hexokinase type IV|hexokinase-4|hexokinase-D 20141222 9606 2646 GCKR - FGQTL5|GKRP MIM:600842|HGNC:HGNC:4196|Ensembl:ENSG00000084734|HPRD:02909|Vega:OTTHUMG00000128426 2 2p23 glucokinase (hexokinase 4) regulator protein-coding GCKR glucokinase (hexokinase 4) regulator O glucokinase regulatory protein 20141211 9606 2650 GCNT1 RP11-214N16.1 C2GNT|C2GNT-L|C2GNT1|G6NT|NACGT2|NAGCT2 MIM:600391|HGNC:HGNC:4203|Ensembl:ENSG00000187210|HPRD:02669|Vega:OTTHUMG00000020044 9 9q13 glucosaminyl (N-acetyl) transferase 1, core 2 protein-coding GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2 O beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase|beta-1,6-N-acetylglucosaminyltransferase|core 2 GnT|core 2 beta-1,6-N-acetylglucosaminyltransferase I|core 2 beta1,6 N-acetylglucosaminyltransferase-I|core 2 branching enzyme|core 2-branching enzyme|core2-GlcNAc-transferase|glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) 20141207 9606 2671 GFER - ALR|ERV1|HERV1|HPO|HPO1|HPO2|HSS MIM:600924|HGNC:HGNC:4236|Ensembl:ENSG00000127554|HPRD:02954|Vega:OTTHUMG00000176896 16 16p13.3-p13.12 growth factor, augmenter of liver regeneration protein-coding GFER growth factor, augmenter of liver regeneration O ERV1 homolog|FAD-linked sulfhydryl oxidase ALR|erv1-like growth factor|hepatic regenerative stimulation substance|hepatopoietin protein 20141207 9606 2673 GFPT1 - CMSTA1|GFA|GFAT|GFAT 1|GFAT1|GFAT1m|GFPT|GFPT1L|MSLG MIM:138292|HGNC:HGNC:4241|Ensembl:ENSG00000198380|HPRD:00702|Vega:OTTHUMG00000152666 2 2p13 glutamine--fructose-6-phosphate transaminase 1 protein-coding GFPT1 glutamine--fructose-6-phosphate transaminase 1 O D-fructose-6-phosphate amidotransferase 1|glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1|glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1|glutamine:fructose-6-phosphate amidotransferase 1|hexosephosphate aminotransferase 1 20141219 9606 2677 GGCX - VKCFD1 MIM:137167|HGNC:HGNC:4247|Ensembl:ENSG00000115486|HPRD:00665|Vega:OTTHUMG00000130173 2 2p12 gamma-glutamyl carboxylase protein-coding GGCX gamma-glutamyl carboxylase O peptidyl-glutamate 4-carboxylase|vitamin K-dependent gamma-carboxylase 20141222 9606 2678 GGT1 - CD224|D22S672|D22S732|GGT|GGT 1|GTG MIM:612346|HGNC:HGNC:4250|Ensembl:ENSG00000100031|HPRD:01980|Vega:OTTHUMG00000030859 22 22q11.23 gamma-glutamyltransferase 1 protein-coding GGT1 gamma-glutamyltransferase 1 O gamma-glutamyltranspeptidase 1|glutathione hydrolase 1|leukotriene-C4 hydrolase 20141215 9606 2683 B4GALT1 - B4GAL-T1|CDG2D|GGTB2|GT1|GTB|beta4Gal-T1 MIM:137060|HGNC:HGNC:924|Ensembl:ENSG00000086062|HPRD:00659|Vega:OTTHUMG00000019764 9 9p13 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 protein-coding B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 O UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1|beta-1,4-GalTase 1|beta-1,4-galactosyltransferase 1|glycoprotein-4-beta-galactosyltransferase 2|lactose synthase 20141219 9606 2686 GGT7 RP1-18C9.2 D20S101|GGT4|GGTL3|GGTL5|dJ18C9.2 MIM:612342|HGNC:HGNC:4259|Ensembl:ENSG00000131067|HPRD:07488|Vega:OTTHUMG00000032314 20 20q11.22 gamma-glutamyltransferase 7 protein-coding GGT7 gamma-glutamyltransferase 7 O GGT 7|gamma-glutamyltransferase 4|gamma-glutamyltransferase-like 3|gamma-glutamyltransferase-like 5|gamma-glutamyltranspeptidase 7|gamma-glutamyltranspeptidase-like 3|glutathione hydrolase 7 20141207 9606 2687 GGT5 - GGL|GGT 5|GGT-REL|GGTLA1 MIM:137168|HGNC:HGNC:4260|Ensembl:ENSG00000099998|HPRD:00666|Vega:OTTHUMG00000150796 22 22q11.23 gamma-glutamyltransferase 5 protein-coding GGT5 gamma-glutamyltransferase 5 O gamma-glutamyl cleaving enzyme|gamma-glutamyl transpeptidase-related enzyme|gamma-glutamyl transpeptidase-related protein|gamma-glutamyltransferase-like activity 1|gamma-glutamyltranspeptidase 5|glutathione hydrolase 5|leukotriene-C4 hydrolase 20141215 9606 2695 GIP - - MIM:137240|HGNC:HGNC:4270|Ensembl:ENSG00000159224|HPRD:15925|Vega:OTTHUMG00000161171 17 17q21.3-q22 gastric inhibitory polypeptide protein-coding GIP gastric inhibitory polypeptide O glucose-dependent insulinotropic polypeptide|incretin hormone 20141207 9606 2710 GK - GK1|GKD MIM:300474|HGNC:HGNC:4289|Ensembl:ENSG00000198814|HPRD:08363|Vega:OTTHUMG00000021328 X Xp21.3 glycerol kinase protein-coding GK glycerol kinase O ATP:glycerol 3-phosphotransferase|glycerokinase 20141207 9606 2712 GK2 - GKP2|GKTA MIM:600148|HGNC:HGNC:4291|Ensembl:ENSG00000196475|HPRD:15966|Vega:OTTHUMG00000130199 4 4q13 glycerol kinase 2 protein-coding GK2 glycerol kinase 2 O ATP:glycerol 3-phosphotransferase 2|glycerokinase 2|glycerol kinase pseudogene 2|glycerol kinase testis specific 2|glycerol kinase, testis specific 2 20141207 9606 2717 GLA - GALA MIM:300644|HGNC:HGNC:4296|Ensembl:ENSG00000102393|HPRD:02357|Vega:OTTHUMG00000022026 X Xq22 galactosidase, alpha protein-coding GLA galactosidase, alpha O agalsidase alfa|alpha-D-galactosidase A|alpha-D-galactoside galactohydrolase 1|alpha-gal A|alpha-galactosidase A|melibiase 20141219 9606 2719 GPC3 AC002420.1 DGSX|GTR2-2|MXR7|OCI-5|SDYS|SGB|SGBS|SGBS1 MIM:300037|HGNC:HGNC:4451|Ensembl:ENSG00000147257|HPRD:02074|Vega:OTTHUMG00000022448 X Xq26.1 glypican 3 protein-coding GPC3 glypican 3 O glypican proteoglycan 3|glypican-3|heparan sulphate proteoglycan|intestinal protein OCI-5|secreted glypican-3 20141222 9606 2720 GLB1 - EBP|ELNR1|MPS4B MIM:611458|HGNC:HGNC:4298|Ensembl:ENSG00000170266|HPRD:01975|Vega:OTTHUMG00000155781 3 3p21.33 galactosidase, beta 1 protein-coding GLB1 galactosidase, beta 1 O acid beta-galactosidase|beta-galactosidase|elastin receptor 1, 67kDa|lactase 20141219 9606 2729 GCLC - GCL|GCS|GLCL|GLCLC MIM:606857|HGNC:HGNC:4311|Ensembl:ENSG00000001084|HPRD:06032|Vega:OTTHUMG00000160220 6 6p12 glutamate-cysteine ligase, catalytic subunit protein-coding GCLC glutamate-cysteine ligase, catalytic subunit O GCS heavy chain|gamma-ECS|gamma-glutamylcysteine synthetase|glutamate--cysteine ligase catalytic subunit 20141207 9606 2730 GCLM RP4-561L24.2 GLCLR MIM:601176|HGNC:HGNC:4312|Ensembl:ENSG00000023909|HPRD:03106 1 1p22.1 glutamate-cysteine ligase, modifier subunit protein-coding GCLM glutamate-cysteine ligase, modifier subunit O GCS light chain|GSC light chain|gamma-ECS regulatory subunit|gamma-glutamylcysteine synthetase regulatory subunit|glutamate--cysteine ligase modifier subunit|glutamate--cysteine ligase regulatory subunit|glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), regulatory (30.8kD)|glutamate-cysteine ligase modifier subunit delta2 alternative splicing|glutamate-cysteine ligase regulatory protein 20141207 9606 2731 GLDC RP11-472F14.1 GCE|GCSP|HYGN1 MIM:238300|HGNC:HGNC:4313|Ensembl:ENSG00000178445|HPRD:01996|Vega:OTTHUMG00000019524 9 9p22 glycine dehydrogenase (decarboxylating) protein-coding GLDC glycine dehydrogenase (decarboxylating) O glycine cleavage system protein P|glycine decarboxylase P-protein|glycine dehydrogenase (aminomethyl-transferring)|glycine dehydrogenase (decarboxylating), mitochondrial|glycine dehydrogenase [decarboxylating], mitochondrial 20141219 9606 2739 GLO1 - GLOD1|GLYI|HEL-S-74 MIM:138750|HGNC:HGNC:4323|Ensembl:ENSG00000124767|HPRD:00730|Vega:OTTHUMG00000014636 6 6p21.3-p21.1 glyoxalase I protein-coding GLO1 glyoxalase I O S-D-lactoylglutathione methylglyoxal lyase|aldoketomutase|epididymis secretory protein Li 74|glx I|glyoxalase domain containing 1|ketone-aldehyde mutase|lactoyl glutathione lyase|lactoylglutathione lyase|methylglyoxalase 20141207 9606 2740 GLP1R - - MIM:138032|HGNC:HGNC:4324|Ensembl:ENSG00000112164|HPRD:00677|Vega:OTTHUMG00000014638 6 6p21 glucagon-like peptide 1 receptor protein-coding GLP1R glucagon-like peptide 1 receptor O GLP-1 receptor|GLP-1-R|GLP-1R 20141207 9606 2744 GLS - AAD20|GAC|GAM|GLS1|KGA MIM:138280|HGNC:HGNC:4331|Ensembl:ENSG00000115419|HPRD:00700|Vega:OTTHUMG00000132701 2 2q32-q34 glutaminase protein-coding GLS glutaminase O K-glutaminase|L-glutamine amidohydrolase|glutaminase C|glutaminase kidney isoform, mitochondrial|glutaminase, phosphate-activated 20141222 9606 2745 GLRX - GRX|GRX1 MIM:600443|HGNC:HGNC:4330|Ensembl:ENSG00000173221|HPRD:02707|Vega:OTTHUMG00000121167 5 5q14 glutaredoxin (thioltransferase) protein-coding GLRX glutaredoxin (thioltransferase) O TTase-1|glutaredoxin-1|thioltransferase-1 20141207 9606 2746 GLUD1 - GDH|GDH1|GLUD MIM:138130|HGNC:HGNC:4335|Ensembl:ENSG00000148672|HPRD:11748|Vega:OTTHUMG00000018666 10 10q23.3 glutamate dehydrogenase 1 protein-coding GLUD1 glutamate dehydrogenase 1 O GDH 1|glutamate dehydrogenase (NAD(P)+)|glutamate dehydrogenase 1, mitochondrial 20141219 9606 2747 GLUD2 - GDH2|GLUDP1 MIM:300144|HGNC:HGNC:4336|Ensembl:ENSG00000182890|HPRD:02143|Vega:OTTHUMG00000022320 X Xq24-q25 glutamate dehydrogenase 2 protein-coding GLUD2 glutamate dehydrogenase 2 O GDH 2|glutamate dehydrogenase 2, mitochondrial|glutamate dehydrogenase pseudogene 1 20141207 9606 2752 GLUL - GLNS|GS|PIG43|PIG59 MIM:138290|HGNC:HGNC:4341|Ensembl:ENSG00000135821|HPRD:00701|Vega:OTTHUMG00000037407 1 1q31 glutamate-ammonia ligase protein-coding GLUL glutamate-ammonia ligase O cell proliferation-inducing protein 59|glutamate decarboxylase|glutamate--ammonia ligase|glutamine synthase|glutamine synthetase|proliferation-inducing protein 43 20141207 9606 2760 GM2A - GM2-AP|SAP-3 MIM:613109|HGNC:HGNC:4367|Ensembl:ENSG00000196743|HPRD:02034|Vega:OTTHUMG00000130124 5 5q33.1 GM2 ganglioside activator protein-coding GM2A GM2 ganglioside activator O cerebroside sulfate activator protein|ganglioside GM2 activator|shingolipid activator protein 3|sphingolipid activator protein 3 20141207 9606 2762 GMDS RP1-118B18.1 GMD|SDR3E1 MIM:602884|HGNC:HGNC:4369|Ensembl:ENSG00000112699|HPRD:11925|Vega:OTTHUMG00000016143 6 6p25 GDP-mannose 4,6-dehydratase protein-coding GMDS GDP-mannose 4,6-dehydratase O GDP-D-mannose dehydratase|GDP-mannose 4,6 dehydratase|short chain dehydrogenase/reductase family 3E, member 1 20141222 9606 2766 GMPR RP3-467D16.2 GMPR1 MIM:139265|HGNC:HGNC:4376|Ensembl:ENSG00000137198|HPRD:00754|Vega:OTTHUMG00000014302 6 6p23 guanosine monophosphate reductase protein-coding GMPR guanosine monophosphate reductase O GMP reductase 1|guanine monophosphate reductase|guanosine 5'-monophosphate oxidoreductase 1|guanosine monophosphate reductase 1 20141211 9606 2767 GNA11 - FBH|FBH2|FHH2|GNA-11|HHC2|HYPOC2 MIM:139313|HGNC:HGNC:4379|Ensembl:ENSG00000088256|HPRD:00759|Vega:OTTHUMG00000180631 19 19p13.3 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) protein-coding GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) O G-protein subunit alpha-11|g alpha-11|guanine nucleotide-binding protein G(y) subunit alpha|guanine nucleotide-binding protein subunit alpha-11 20141222 9606 2769 GNA15 - GNA16 MIM:139314|HGNC:HGNC:4383|Ensembl:ENSG00000060558|HPRD:00760|Vega:OTTHUMG00000180637 19 19p13.3 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) protein-coding GNA15 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) O G-protein subunit alpha-15|G-protein subunit alpha-16|epididymis tissue protein Li 17E|g alpha-15|g alpha-16|guanine nucleotide-binding protein subunit alpha-15|guanine nucleotide-binding protein subunit alpha-16 20141207 9606 2770 GNAI1 - Gi MIM:139310|HGNC:HGNC:4384|Ensembl:ENSG00000127955|HPRD:00756|Vega:OTTHUMG00000023523 7 7q21 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 protein-coding GNAI1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 O Gi1 protein alpha subunit|adenylate cyclase-inhibiting G alpha protein|guanine nucleotide-binding protein G(i) subunit alpha-1 20141207 9606 2771 GNAI2 - GIP|GNAI2B|H_LUCA15.1|H_LUCA16.1 MIM:139360|HGNC:HGNC:4385|Ensembl:ENSG00000114353|HPRD:00764|Vega:OTTHUMG00000156940 3 3p21.31 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 protein-coding GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 O GTP-binding regulatory protein Gi alpha-2 chain|adenylate cyclase-inhibiting G alpha protein|guanine nucleotide-binding protein G(i) subunit alpha-2|guanine nucleotide-binding protein G(i), alpha-2 subunit 20141207 9606 2775 GNAO1 - EIEE17|G-ALPHA-o|GNAO MIM:139311|HGNC:HGNC:4389|Ensembl:ENSG00000087258|HPRD:00757|Vega:OTTHUMG00000133241 16 16q13 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O protein-coding GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O O guanine nucleotide-binding protein G(o) subunit alpha 20141207 9606 2776 GNAQ RP11-494N1.1 CMC1|G-ALPHA-q|GAQ|SWS MIM:600998|HGNC:HGNC:4390|Ensembl:ENSG00000156052|HPRD:02998|Vega:OTTHUMG00000020059 9 9q21 guanine nucleotide binding protein (G protein), q polypeptide protein-coding GNAQ guanine nucleotide binding protein (G protein), q polypeptide O guanine nucleotide-binding protein G(q) subunit alpha|guanine nucleotide-binding protein alpha-q 20141222 9606 2778 GNAS RP4-543J19.4 AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PHP1A|PHP1B|PHP1C|POH MIM:139320|HGNC:HGNC:4392|Ensembl:ENSG00000087460|HPRD:00761|Vega:OTTHUMG00000033069 20 20q13.3 GNAS complex locus protein-coding GNAS GNAS complex locus O adenylate cyclase-stimulating G alpha protein|alternative gene product encoded by XL-exon|extra large alphas protein|guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1|guanine nucleotide regulatory protein|guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas|neuroendocrine secretory protein|protein ALEX|secretogranin VI 20141207 9606 2782 GNB1 RP1-283E3.7 - MIM:139380|HGNC:HGNC:4396|Ensembl:ENSG00000078369|HPRD:00766|Vega:OTTHUMG00000000940 1 1p36.33 guanine nucleotide binding protein (G protein), beta polypeptide 1 protein-coding GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 O G protein, beta-1 subunit|beta subunit, signal-transducing proteins GS/GI|guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1|transducin beta chain 1 20141207 9606 2783 GNB2 - - MIM:139390|HGNC:HGNC:4398|Ensembl:ENSG00000172354|HPRD:11820|Vega:OTTHUMG00000137419 7 7q22 guanine nucleotide binding protein (G protein), beta polypeptide 2 protein-coding GNB2 guanine nucleotide binding protein (G protein), beta polypeptide 2 O G protein, beta-2 subunit|g protein subunit beta-2|guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2|guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2|signal-transducing guanine nucleotide-binding regulatory protein beta subunit|transducin beta chain 2 20141207 9606 2784 GNB3 - - MIM:139130|HGNC:HGNC:4400|Ensembl:ENSG00000111664|HPRD:00743|Vega:OTTHUMG00000168517 12 12p13 guanine nucleotide binding protein (G protein), beta polypeptide 3 protein-coding GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 O G protein, beta-3 subunit|GTP-binding regulatory protein beta-3 chain|guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3|guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3|hypertension associated protein|transducin beta chain 3 20141207 9606 2785 GNG3 - - MIM:608941|HGNC:HGNC:4405|Ensembl:ENSG00000162188|HPRD:12337|Vega:OTTHUMG00000167560 11 11p11 guanine nucleotide binding protein (G protein), gamma 3 protein-coding GNG3 guanine nucleotide binding protein (G protein), gamma 3 O NBP gamma-3|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3|guanine nucleotide-binding protein gamma-3 subunit 20141207 9606 2786 GNG4 - - MIM:604388|HGNC:HGNC:4407|Ensembl:ENSG00000168243|HPRD:11978 1 1q42.3 guanine nucleotide binding protein (G protein), gamma 4 protein-coding GNG4 guanine nucleotide binding protein (G protein), gamma 4 O guanine nucleotide binding protein 4|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 20141207 9606 2787 GNG5 - - MIM:600874|HGNC:HGNC:4408|Ensembl:ENSG00000174021|HPRD:11865|Vega:OTTHUMG00000009858 1 1p22 guanine nucleotide binding protein (G protein), gamma 5 protein-coding GNG5 guanine nucleotide binding protein (G protein), gamma 5 O guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 20141207 9606 2788 GNG7 - - MIM:604430|HGNC:HGNC:4410|Ensembl:ENSG00000176533|HPRD:07638|HPRD:10376|Vega:OTTHUMG00000180435 19 19p13.3 guanine nucleotide binding protein (G protein), gamma 7 protein-coding GNG7 guanine nucleotide binding protein (G protein), gamma 7 O guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 20141207 9606 2790 GNG10 - - MIM:604389|HGNC:HGNC:4402|Ensembl:ENSG00000242616|Vega:OTTHUMG00000157193 9 9q31.3 guanine nucleotide binding protein (G protein), gamma 10 protein-coding GNG10 guanine nucleotide binding protein (G protein), gamma 10 O guanine nucleotide binding protein 10|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 20141207 9606 2791 GNG11 - GNGT11 MIM:604390|HGNC:HGNC:4403|HPRD:11979 7 7q21 guanine nucleotide binding protein (G protein), gamma 11 protein-coding GNG11 guanine nucleotide binding protein (G protein), gamma 11 O G protein gamma-11 subunit|guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 20141207 9606 2792 GNGT1 - GNG1 MIM:189970|HGNC:HGNC:4411|Ensembl:ENSG00000127928|HPRD:01805|Vega:OTTHUMG00000022908 7 7q21.3 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 protein-coding GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 O guanine nucleotide-binding protein G(T) subunit gamma-T1|transducin gamma chain 20141207 9606 2793 GNGT2 - G-GAMMA-8|G-GAMMA-C|GNG8|GNG9|GNGT8 MIM:139391|HGNC:HGNC:4412|Ensembl:ENSG00000167083|HPRD:06792|Vega:OTTHUMG00000161308 17 17q21 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 protein-coding GNGT2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 O G protein cone gamma 8 subunit|G-gamma-9|g gamma-C|gamma-T2 subunit|guanine nucleotide binding protein gamma 9|guanine nucleotide binding protein gamma transducing activity polypeptide 2|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 20141207 9606 2799 GNS - G6S MIM:607664|HGNC:HGNC:4422|Ensembl:ENSG00000135677|HPRD:09637|Vega:OTTHUMG00000168819 12 12q14 glucosamine (N-acetyl)-6-sulfatase protein-coding GNS glucosamine (N-acetyl)-6-sulfatase O N-acetylglucosamine-6-sulfatase|glucosamine-6-sulfatase 20141207 9606 2805 GOT1 - ASTQTL1|GIG18|cAspAT|cCAT MIM:138180|HGNC:HGNC:4432|Ensembl:ENSG00000120053|HPRD:00687|Vega:OTTHUMG00000018882 10 10q24.1-q25.1 glutamic-oxaloacetic transaminase 1, soluble protein-coding GOT1 glutamic-oxaloacetic transaminase 1, soluble O aspartate aminotransferase 1|aspartate aminotransferase, cytoplasmic|aspartate transaminase 1|cysteine aminotransferase, cytoplasmic|cysteine transaminase, cytoplasmic|glutamate oxaloacetate transaminase 1|growth-inhibiting protein 18|transaminase A 20141207 9606 2806 GOT2 - KAT4|KATIV|mitAAT MIM:138150|HGNC:HGNC:4433|Ensembl:ENSG00000125166|HPRD:00684|Vega:OTTHUMG00000133769 16 16q21 glutamic-oxaloacetic transaminase 2, mitochondrial protein-coding GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial O FABP-1|FABPpm|aspartate aminotransferase 2|aspartate aminotransferase, mitochondrial|aspartate transaminase 2|fatty acid-binding protein|glutamate oxaloacetate transaminase 2|glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)|kynurenine aminotransferase 4|kynurenine aminotransferase IV|kynurenine--oxoglutarate transaminase 4|kynurenine--oxoglutarate transaminase IV|mAspAT|plasma membrane-associated fatty acid-binding protein|transaminase A 20141211 9606 2817 GPC1 - glypican MIM:600395|HGNC:HGNC:4449|Ensembl:ENSG00000063660|HPRD:02671|Vega:OTTHUMG00000133349 2 2q35-q37 glypican 1 protein-coding GPC1 glypican 1 O glypican proteoglycan 1|glypican-1 20141207 9606 2819 GPD1 - GPD-C|GPDH-C|HTGTI MIM:138420|HGNC:HGNC:4455|Ensembl:ENSG00000167588|HPRD:00714|Vega:OTTHUMG00000169813 12 12q13.12 glycerol-3-phosphate dehydrogenase 1 (soluble) protein-coding GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) O glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic|glycerol-3-phosphate dehydrogenase [NAD+], cytoplasmic|glycerophosphate dehydrogenase 20141207 9606 2820 GPD2 - GDH2|GPDM|mGPDH MIM:138430|HGNC:HGNC:4456|Ensembl:ENSG00000115159|HPRD:00715|Vega:OTTHUMG00000131951 2 2q24.1 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) protein-coding GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) O GPD-M|GPDH-M|glycerol-3-phosphate dehydrogenase, mitochondrial|mitochondrial glycerophosphate dehydrogenase|mtGPD 20141207 9606 2821 GPI - AMF|GNPI|NLK|PGI|PHI|SA-36|SA36 MIM:172400|HGNC:HGNC:4458|Ensembl:ENSG00000105220|HPRD:01394|Vega:OTTHUMG00000182087 19 19q13.1 glucose-6-phosphate isomerase protein-coding GPI glucose-6-phosphate isomerase O autocrine motility factor|glucose phosphate isomerase|hexose monophosphate isomerase|hexosephosphate isomerase|neuroleukin|oxoisomerase|phosphoglucose isomerase|phosphohexomutase|phosphohexose isomerase|phosphosaccharomutase|sperm antigen 36|sperm antigen-36 20141207 9606 2864 FFAR1 - FFA1R|GPCR40|GPR40 MIM:603820|HGNC:HGNC:4498|HPRD:04822 19 19q13.1 free fatty acid receptor 1 protein-coding FFAR1 free fatty acid receptor 1 O G protein-coupled receptor 40|G-protein coupled receptor 40 20141207 9606 2875 GPT - AAT1|ALT1|GPT1 MIM:138200|HGNC:HGNC:4552|Ensembl:ENSG00000167701|HPRD:00689|Vega:OTTHUMG00000165176 8 8q24.3 glutamic-pyruvate transaminase (alanine aminotransferase) protein-coding GPT glutamic-pyruvate transaminase (alanine aminotransferase) O GPT 1|alanine aminotransferase 1|glutamate pyruvate transaminase 1|glutamic--alanine transaminase 1|glutamic--pyruvic transaminase 1|glutamic-alanine transaminase 1 20141218 9606 2876 GPX1 - GPXD|GSHPX1 MIM:138320|HGNC:HGNC:4553|Ensembl:ENSG00000233276|HPRD:11749|Vega:OTTHUMG00000156837 3 3p21.3 glutathione peroxidase 1 protein-coding GPX1 glutathione peroxidase 1 O GPx-1|GSHPx-1|cellular glutathione peroxidase 20141222 9606 2877 GPX2 - GI-GPx|GPRP|GPRP-2|GPx-2|GPx-GI|GSHPX-GI|GSHPx-2 MIM:138319|HGNC:HGNC:4554|Ensembl:ENSG00000176153|HPRD:11818|Vega:OTTHUMG00000171677 14 14q24.1 glutathione peroxidase 2 (gastrointestinal) protein-coding GPX2 glutathione peroxidase 2 (gastrointestinal) O gastrointestinal glutathione peroxidase|glutathione peroxidase 2|glutathione peroxidase-related protein 2 20141207 9606 2878 GPX3 - GPx-P|GSHPx-3|GSHPx-P MIM:138321|HGNC:HGNC:4555|Ensembl:ENSG00000211445|HPRD:11750|Vega:OTTHUMG00000163693 5 5q23 glutathione peroxidase 3 (plasma) protein-coding GPX3 glutathione peroxidase 3 (plasma) O GPx-3|extracellular glutathione peroxidase|glutathione peroxidase 3|plasma glutathione peroxidase 20141222 9606 2879 GPX4 - GPx-4|GSHPx-4|MCSP|PHGPx|snGPx|snPHGPx MIM:138322|HGNC:HGNC:4556|Ensembl:ENSG00000167468|HPRD:11819|Vega:OTTHUMG00000181874 19 19p13.3 glutathione peroxidase 4 protein-coding GPX4 glutathione peroxidase 4 O phospholipid hydroperoxidase|phospholipid hydroperoxide glutathione peroxidase, mitochondrial|sperm nucleus glutathione peroxidase 20141207 9606 2880 GPX5 - HEL-S-75p MIM:603435|HGNC:HGNC:4557|Ensembl:ENSG00000224586|HPRD:11941|Vega:OTTHUMG00000016307 6 6p22.1 glutathione peroxidase 5 protein-coding GPX5 glutathione peroxidase 5 O EGLP|GPx-5|GSHPx-5|epididymal androgen-related protein|epididymal secretory glutathione peroxidase|epididymis secretory sperm binding protein Li 75p|epididymis-specific glutathione peroxidase-like protein 20141207 9606 2882 GPX7 UNQ469/PRO828 CL683|GPX6|GPx-7|GSHPx-7|NPGPx MIM:615784|HGNC:HGNC:4559|Ensembl:ENSG00000116157|HPRD:13606|Vega:OTTHUMG00000008322 1 1p32 glutathione peroxidase 7 protein-coding GPX7 glutathione peroxidase 7 O glutathione peroxidase 6|non-selenocysteine containing phospholipid hydroperoxide glutathione peroxidase 20141207 9606 2922 GRP - BN|GRP-10|preproGRP|proGRP MIM:137260|HGNC:HGNC:4605|Ensembl:ENSG00000134443|HPRD:08845|Vega:OTTHUMG00000132760 18 18q21.1-q21.32 gastrin-releasing peptide protein-coding GRP gastrin-releasing peptide O bombesin|neuromedin C|pre-progastrin releasing peptide|prepro-GRP 20141222 9606 2923 PDIA3 - ER60|ERp57|ERp60|ERp61|GRP57|GRP58|HEL-S-269|HEL-S-93n|HsT17083|P58|PI-PLC MIM:602046|HGNC:HGNC:4606|Ensembl:ENSG00000167004|HPRD:03625|Vega:OTTHUMG00000044444 15 15q15 protein disulfide isomerase family A, member 3 protein-coding PDIA3 protein disulfide isomerase family A, member 3 O 58 kDa glucose-regulated protein|58 kDa microsomal protein|ER protein 57|ER protein 60|disulfide isomerase ER-60|endoplasmic reticulum P58|endoplasmic reticulum resident protein 57|endoplasmic reticulum resident protein 60|epididymis secretory protein Li 269|epididymis secretory sperm binding protein Li 93n|glucose regulated protein, 58kDa|phospholipase C-alpha|protein disulfide isomerase-associated 3|protein disulfide-isomerase A3 20141207 9606 2936 GSR - HEL-75 MIM:138300|HGNC:HGNC:4623|Ensembl:ENSG00000104687|HPRD:00704|Vega:OTTHUMG00000163946 8 8p21.1 glutathione reductase protein-coding GSR glutathione reductase O GR|GRase|epididymis luminal protein 75|glutathione reductase, mitochondrial 20141207 9606 2937 GSS - GSHS|HEL-S-64p|HEL-S-88n MIM:601002|HGNC:HGNC:4624|Ensembl:ENSG00000100983|HPRD:03000|Vega:OTTHUMG00000032315 20 20q11.2 glutathione synthetase protein-coding GSS glutathione synthetase O GSH synthetase|GSH-S|epididymis secretory sperm binding protein Li 64p|epididymis secretory sperm binding protein Li 88n|glutathione synthase 20141207 9606 2938 GSTA1 RP11-392A23.1 GST2|GSTA1-1|GTH1 MIM:138359|HGNC:HGNC:4626|HPRD:00708 6 6p12.1 glutathione S-transferase alpha 1 protein-coding GSTA1 glutathione S-transferase alpha 1 O GST HA subunit 1|GST class-alpha member 1|GST, class alpha, 1|GST-epsilon|S-(hydroxyalkyl)glutathione lyase A1|glutathione S-alkyltransferase A1|glutathione S-aryltransferase A1|glutathione S-transferase 2|glutathione S-transferase A1|glutathione S-transferase Ha subunit 1 20141222 9606 2939 GSTA2 - GST2|GSTA2-2|GTA2|GTH2 MIM:138360|HGNC:HGNC:4627|Ensembl:ENSG00000244067|HPRD:00709|Vega:OTTHUMG00000016263 6 6p12.1 glutathione S-transferase alpha 2 protein-coding GSTA2 glutathione S-transferase alpha 2 O GST HA subunit 2|GST class-alpha member 2|GST-gamma|S-(hydroxyalkyl)glutathione lyase A2|glutathione S-alkyltransferase A2|glutathione S-aralkyltransferase A2|glutathione S-aryltransferase A2|glutathione S-transferase A2|liver GST2 20141207 9606 2940 GSTA3 RP1-214M20.2 GSTA3-3|GTA3 MIM:605449|HGNC:HGNC:4628|Ensembl:ENSG00000174156|HPRD:07290|Vega:OTTHUMG00000014865 6 6p12.1 glutathione S-transferase alpha 3 protein-coding GSTA3 glutathione S-transferase alpha 3 O GST class-alpha member 3|S-(hydroxyalkyl)glutathione lyase A3|glutathione S-alkyltransferase A3|glutathione S-aralkyltransferase A3|glutathione S-aryltransferase A3|glutathione S-transferase A3|glutathione S-transferase A3-3 20141207 9606 2941 GSTA4 RP1-214M20.1 GSTA4-4|GTA4 MIM:605450|HGNC:HGNC:4629|Ensembl:ENSG00000170899|HPRD:06899|Vega:OTTHUMG00000014868 6 6p12.1 glutathione S-transferase alpha 4 protein-coding GSTA4 glutathione S-transferase alpha 4 O GST class-alpha member 4|S-(hydroxyalkyl)glutathione lyase A4|glutathione S-alkyltransferase A4|glutathione S-aralkyltransferase A4|glutathione S-aryltransferase A4|glutathione S-transferase A4|glutathione S-transferase A4-4|glutathione transferase A4-4 20141207 9606 2944 GSTM1 - GST1|GSTM1-1|GSTM1a-1a|GSTM1b-1b|GTH4|GTM1|H-B|MU|MU-1 MIM:138350|HGNC:HGNC:4632|Ensembl:ENSG00000134184|HPRD:00707|Vega:OTTHUMG00000011635 1 1p13.3 glutathione S-transferase mu 1 protein-coding GSTM1 glutathione S-transferase mu 1 O GST HB subunit 4|GST class-mu 1|HB subunit 4|S-(hydroxyalkyl)glutathione lyase|glutathione S-alkyltransferase|glutathione S-aralkyltransferase|glutathione S-aryltransferase|glutathione S-transferase M1|glutathione S-transferase Mu 1 20141222 9606 2946 GSTM2 - GST4|GSTM|GSTM2-2|GTHMUS MIM:138380|HGNC:HGNC:4634|Ensembl:ENSG00000213366|HPRD:00710|Vega:OTTHUMG00000011638 1 1p13.3 glutathione S-transferase mu 2 (muscle) protein-coding GSTM2 glutathione S-transferase mu 2 (muscle) O GST class-mu 2|GST, muscle|S-(hydroxyalkyl)glutathione lyase M2|glutathione S-alkyltransferase M2|glutathione S-aralkyltransferase M2|glutathione S-aryltransferase M2|glutathione S-transferase 4|glutathione S-transferase M1|glutathione S-transferase M2 (muscle)|glutathione S-transferase Mu 2 20141207 9606 2947 GSTM3 RP4-735C1.2 GST5|GSTB|GSTM3-3|GTM3 MIM:138390|HGNC:HGNC:4635|Ensembl:ENSG00000134202|HPRD:00712 1 1p13.3 glutathione S-transferase mu 3 (brain) protein-coding GSTM3 glutathione S-transferase mu 3 (brain) O GST class-mu 3|S-(hydroxyalkyl)glutathione lyase M3|brain GST|brain type mu-glutathione S-transferase|glutathione S-alkyltransferase M3|glutathione S-aralkyltransferase M3|glutathione S-aryltransferase M3|glutathione S-transferase M3 (brain)|glutathione S-transferase Mu 3|glutathione S-transferase, Mu-3|hGSTM3-3 20141207 9606 2948 GSTM4 - GSTM4-4|GTM4 MIM:138333|HGNC:HGNC:4636|Ensembl:ENSG00000168765|HPRD:00706|Vega:OTTHUMG00000011642 1 1p13.3 glutathione S-transferase mu 4 protein-coding GSTM4 glutathione S-transferase mu 4 O GST class-mu 4|GST-Mu2|GTS-Mu2|S-(hydroxyalkyl)glutathione lyase M4|glutathione S-alkyltransferase M4|glutathione S-aralkyltransferase M4|glutathione S-aryltransferase M4|glutathione S-transferase M4|glutathione S-transferase Mu 4 20141207 9606 2949 GSTM5 RP4-735C1.1 GSTM5-5|GTM5 MIM:138385|HGNC:HGNC:4637|Ensembl:ENSG00000134201|HPRD:00711|Vega:OTTHUMG00000011644 1 1p13.3 glutathione S-transferase mu 5 protein-coding GSTM5 glutathione S-transferase mu 5 O GST class-mu 5|S-(hydroxyalkyl)glutathione lyase M5|glutathione S-alkyltransferase M5|glutathione S-aralkyltransferase M5|glutathione S-aryltransferase M5|glutathione S-transferase M5|glutathione S-transferase Mu 5 20141207 9606 2950 GSTP1 - DFN7|FAEES3|GST3|GSTP|HEL-S-22|PI MIM:134660|HGNC:HGNC:4638|Ensembl:ENSG00000084207|HPRD:00614|Vega:OTTHUMG00000137430 11 11q13 glutathione S-transferase pi 1 protein-coding GSTP1 glutathione S-transferase pi 1 O GST class-pi|GSTP1-1|deafness, X-linked 7|epididymis secretory protein Li 22|fatty acid ethyl ester synthase III|glutathione S-transferase P 20141222 9606 2952 GSTT1 - - MIM:600436|HGNC:HGNC:4641|HPRD:02700 22 22q11.23 glutathione S-transferase theta 1 protein-coding GSTT1 glutathione S-transferase theta 1 O GST class-theta-1|glutathione S-transferase theta-1|glutathione transferase T1-1 20141222 9606 2953 GSTT2 hCG_41095 - MIM:600437|HGNC:HGNC:4642|Ensembl:ENSG00000099984|HPRD:02701 22 22q11.23 glutathione S-transferase theta 2 (gene/pseudogene) protein-coding GSTT2 glutathione S-transferase theta 2 (gene/pseudogene) O GST class-theta-2|glutathione S-transferase theta-2 20141207 9606 2954 GSTZ1 - GSTZ1-1|MAAI|MAI MIM:603758|HGNC:HGNC:4643|Ensembl:ENSG00000100577|HPRD:04785|Vega:OTTHUMG00000171551 14 14q24.3 glutathione S-transferase zeta 1 protein-coding GSTZ1 glutathione S-transferase zeta 1 O S-(hydroxyalkyl)glutathione lyase|glutathione S-alkyltransferase|glutathione S-aralkyltransferase|glutathione S-aryltransferase|glutathione transferase zeta 1|maleylacetoacetate isomerase|maleylacetone isomerase 20141207 9606 2977 GUCY1A2 - GC-SA2|GUC1A2 MIM:601244|HGNC:HGNC:4684|Ensembl:ENSG00000152402|HPRD:03146|Vega:OTTHUMG00000166296 11 11q21-q22 guanylate cyclase 1, soluble, alpha 2 protein-coding GUCY1A2 guanylate cyclase 1, soluble, alpha 2 O GCS-alpha-2|guanylate cyclase soluble subunit alpha-2 20141207 9606 2982 GUCY1A3 RP11-588K22.2 GC-SA3|GUC1A3|GUCA3|GUCSA3|GUCY1A1|MYMY6 MIM:139396|HGNC:HGNC:4685|Ensembl:ENSG00000164116|HPRD:00768|Vega:OTTHUMG00000161700 4 4q31.1-q31.2 guanylate cyclase 1, soluble, alpha 3 protein-coding GUCY1A3 guanylate cyclase 1, soluble, alpha 3 O GC-S-alpha-1|GCS-alpha-3|guanylate cyclase soluble subunit alpha-3|soluble guanylate cyclase large subunit 20141207 9606 2983 GUCY1B3 - GC-S-beta-1|GC-SB3|GUC1B3|GUCB3|GUCSB3|GUCY1B1 MIM:139397|HGNC:HGNC:4687|Ensembl:ENSG00000061918|HPRD:00769|Vega:OTTHUMG00000161698 4 4q31.3-q33 guanylate cyclase 1, soluble, beta 3 protein-coding GUCY1B3 guanylate cyclase 1, soluble, beta 3 O GCS-beta-1|GCS-beta-3|guanylate cyclase soluble subunit beta-1|guanylate cyclase soluble subunit beta-3|soluble guanylate cyclase small subunit 20141207 9606 2984 GUCY2C - DIAR6|GUC2C|MECIL|MUCIL|STAR MIM:601330|HGNC:HGNC:4688|Ensembl:ENSG00000070019|HPRD:07529|Vega:OTTHUMG00000168732 12 12p12 guanylate cyclase 2C protein-coding GUCY2C guanylate cyclase 2C O GC-C|STA receptor|guanylate cyclase 2C (heat stable enterotoxin receptor)|guanylyl cyclase C|hSTAR|heat stable enterotoxin receptor|heat-stable enterotoxin receptor|intestinal guanylate cyclase 20141220 9606 2986 GUCY2F - CYGF|GC-F|GUC2DL|GUC2F|RETGC-2|ROS-GC2 MIM:300041|HGNC:HGNC:4691|Ensembl:ENSG00000101890|HPRD:02078|Vega:OTTHUMG00000022184 X Xq22 guanylate cyclase 2F, retinal protein-coding GUCY2F guanylate cyclase 2F, retinal O guanylate cyclase 2D-like, membrane (retina-specific)|guanylate cyclase F|retinal guanylyl cyclase 2|rod outer segment membrane guanylate cyclase 2 20141207 9606 2987 GUK1 RP11-520H14.2 GMK MIM:139270|HGNC:HGNC:4693|Ensembl:ENSG00000143774|HPRD:00755|Vega:OTTHUMG00000039503 1 1q32-q41 guanylate kinase 1 protein-coding GUK1 guanylate kinase 1 O ATP:GMP phosphotransferase|GMP kinase|guanylate kinase 20141207 9606 2990 GUSB tcag7.927 BG|MPS7 MIM:611499|HGNC:HGNC:4696|Ensembl:ENSG00000169919|HPRD:02018|Vega:OTTHUMG00000023735 7 7q21.11 glucuronidase, beta protein-coding GUSB glucuronidase, beta O beta-D-glucuronidase|beta-G1|beta-glucuronidase 20141222 9606 2992 GYG1 - GSD15|GYG MIM:603942|HGNC:HGNC:4699|Ensembl:ENSG00000163754|HPRD:06805|Vega:OTTHUMG00000159533 3 3q24-q25.1 glycogenin 1 protein-coding GYG1 glycogenin 1 O GN-1|glycogenin glucosyltransferase|glycogenin-1 20141207 9606 2997 GYS1 - GSY|GYS MIM:138570|HGNC:HGNC:4706|Ensembl:ENSG00000104812|HPRD:00721|Vega:OTTHUMG00000150723 19 19q13.3 glycogen synthase 1 (muscle) protein-coding GYS1 glycogen synthase 1 (muscle) O glycogen [starch] synthase, muscle 20141207 9606 2998 GYS2 - - MIM:138571|HGNC:HGNC:4707|Ensembl:ENSG00000111713|HPRD:00722|Vega:OTTHUMG00000169135 12 12p12.2 glycogen synthase 2 (liver) protein-coding GYS2 glycogen synthase 2 (liver) O glycogen [starch] synthase, liver 20141207 9606 3000 GUCY2D - CORD5|CORD6|CYGD|GUC1A4|GUC2D|LCA|LCA1|RCD2|RETGC-1|ROS-GC1|ROSGC|retGC MIM:600179|HGNC:HGNC:4689|Ensembl:ENSG00000132518|HPRD:02550|Vega:OTTHUMG00000108169 17 17p13.1 guanylate cyclase 2D, membrane (retina-specific) protein-coding GUCY2D guanylate cyclase 2D, membrane (retina-specific) O ROS-GC|cone rod dystrophy 6|guanylate cyclase 2D, retinal|retinal guanylate cyclase 1|retinal guanylyl cyclase 1|rod outer segment membrane guanylate cyclase 20141221 9606 3028 HSD17B10 RP3-339A18.2 17b-HSD10|ABAD|CAMR|DUPXp11.22|ERAB|HADH2|HCD2|MHBD|MRPP2|MRX17|MRX31|MRXS10|SCHAD|SDR5C1 MIM:300256|HGNC:HGNC:4800|Ensembl:ENSG00000072506|HPRD:02223|Vega:OTTHUMG00000021612 X Xp11.2 hydroxysteroid (17-beta) dehydrogenase 10 protein-coding HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 O 3-hydroxy-2-methylbutyryl-CoA dehydrogenase|3-hydroxyacyl-CoA dehydrogenase type-2|AB-binding alcohol dehydrogenase|amyloid-beta peptide binding alcohol dehydrogenase|endoplasmic reticulum-associated amyloid beta-peptide-binding protein|mitochondrial RNase P subunit 2|mitochondrial ribonuclease P protein 2|short chain L-3-hydroxyacyl-CoA dehydrogenase type 2|short chain dehydrogenase/reductase family 5C, member 1|short chain type dehydrogenase/reductase XH98G2 20141207 9606 3029 HAGH - GLO2|GLX2|GLXII|HAGH1 MIM:138760|HGNC:HGNC:4805|HPRD:00731 16 16p13.3 hydroxyacylglutathione hydrolase protein-coding HAGH hydroxyacylglutathione hydrolase O glx II|glyoxalase II|hydroxyacylglutathione hydrolase, mitochondrial|hydroxyacylglutathione hydroxylase 20141207 9606 3030 HADHA - ECHA|GBP|HADH|LCEH|LCHAD|MTPA|TP-ALPHA MIM:600890|HGNC:HGNC:4801|Ensembl:ENSG00000084754|HPRD:02934|Vega:OTTHUMG00000096979 2 2p23 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit protein-coding HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit O 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit|3-oxoacyl-CoA thiolase|78 kDa gastrin-binding protein|gastrin-binding protein|hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit|long-chain 2-enoyl-CoA hydratase|long-chain-3-hydroxyacyl-CoA dehydrogenase|mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit|mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit|mitochondrial trifunctional enzyme, alpha subunit|mitochondrial trifunctional protein, alpha subunit|trifunctional enzyme subunit alpha, mitochondrial 20141207 9606 3032 HADHB MSTP029 ECHB|MTPB|TP-BETA MIM:143450|HGNC:HGNC:4803|Ensembl:ENSG00000138029|HPRD:00887|Vega:OTTHUMG00000096978 2 2p23 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit protein-coding HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit O 2-enoyl-Coenzyme A (CoA) hydratase, beta subunit|3-ketoacyl-Coenzyme A (CoA) thiolase of mitochondrial trifunctional protein, beta subunit|acetyl-CoA acyltransferase|beta-ketothiolase|hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit|trifunctional enzyme subunit beta, mitochondrial 20141207 9606 3033 HADH - HAD|HADH1|HADHSC|HCDH|HHF4|MSCHAD|SCHAD MIM:601609|HGNC:HGNC:4799|Ensembl:ENSG00000138796|Vega:OTTHUMG00000131810 4 4q22-q26 hydroxyacyl-CoA dehydrogenase protein-coding HADH hydroxyacyl-CoA dehydrogenase O L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain|hydroxyacyl-coenzyme A dehydrogenase, mitochondrial|medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase|short-chain 3-hydroxyacyl-CoA dehydrogenase 20141219 9606 3034 HAL - HIS|HSTD MIM:609457|HGNC:HGNC:4806|Ensembl:ENSG00000084110|HPRD:07187|Vega:OTTHUMG00000170354 12 12q22-q24.1 histidine ammonia-lyase protein-coding HAL histidine ammonia-lyase O histidase 20141207 9606 3036 HAS1 - HAS MIM:601463|HGNC:HGNC:4818|Ensembl:ENSG00000105509|HPRD:03271|Vega:OTTHUMG00000183499 19 19q13.4 hyaluronan synthase 1 protein-coding HAS1 hyaluronan synthase 1 O HA synthase 1|hyaluronate synthase 1|hyaluronic acid synthase 1 20141207 9606 3037 HAS2 - - MIM:601636|HGNC:HGNC:4819|HPRD:07045 8 8q24.12 hyaluronan synthase 2 protein-coding HAS2 hyaluronan synthase 2 O HA synthase 2|hyaluronate synthase 2|hyaluronic acid synthase 2 20141207 9606 3038 HAS3 - - MIM:602428|HGNC:HGNC:4820|Ensembl:ENSG00000103044|HPRD:03889|Vega:OTTHUMG00000137562 16 16q22.1 hyaluronan synthase 3 protein-coding HAS3 hyaluronan synthase 3 O HA synthase 3|hyaluronate synthase 3|hyaluronic acid synthase 3 20141207 9606 3052 HCCS - CCHL|MCOPS7|MLS MIM:300056|HGNC:HGNC:4837|Ensembl:ENSG00000004961|HPRD:02085|Vega:OTTHUMG00000021128 X Xp22.3 holocytochrome c synthase protein-coding HCCS holocytochrome c synthase O cytochrome c heme-lyase|cytochrome c-type heme lyase|holocytochrome c-type synthase|microphthalamia with linear skin defects 20141219 9606 3067 HDC - - MIM:142704|HGNC:HGNC:4855|Ensembl:ENSG00000140287|HPRD:00817|Vega:OTTHUMG00000131644 15 15q21.2 histidine decarboxylase protein-coding HDC histidine decarboxylase O - 20141207 9606 3073 HEXA - TSD MIM:606869|HGNC:HGNC:4878|HPRD:06040 15 15q24.1 hexosaminidase A (alpha polypeptide) protein-coding HEXA hexosaminidase A (alpha polypeptide) O N-acetyl-beta-glucosaminidase subunit alpha|beta-N-acetylhexosaminidase subunit alpha|beta-hexosaminidase subunit alpha|hexosaminidase subunit A 20141222 9606 3074 HEXB HCC7 ENC-1AS|HEL-248 MIM:606873|HGNC:HGNC:4879|Ensembl:ENSG00000049860|HPRD:06043|Vega:OTTHUMG00000102057 5 5q13 hexosaminidase B (beta polypeptide) protein-coding HEXB hexosaminidase B (beta polypeptide) O HCC-7|N-acetyl-beta-glucosaminidase subunit beta|beta-N-acetylhexosaminidase subunit beta|beta-hexosaminidase subunit beta|cervical cancer proto-oncogene 7 protein|epididymis luminal protein 248|hexosaminidase subunit B 20141207 9606 3081 HGD - AKU|HGO MIM:607474|HGNC:HGNC:4892|Ensembl:ENSG00000113924|HPRD:06315|Vega:OTTHUMG00000159441 3 3q13.33 homogentisate 1,2-dioxygenase protein-coding HGD homogentisate 1,2-dioxygenase O homogentisate oxidase|homogentisate oxygenase|homogentisic acid oxidase|homogentisicase 20141222 9606 3091 HIF1A - HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78 MIM:603348|HGNC:HGNC:4910|Ensembl:ENSG00000100644|HPRD:04517|Vega:OTTHUMG00000140344 14 14q23.2 hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) protein-coding HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) O ARNT interacting protein|ARNT-interacting protein|HIF-1-alpha|PAS domain-containing protein 8|basic-helix-loop-helix-PAS protein MOP1|class E basic helix-loop-helix protein 78|hypoxia-inducible factor 1 alpha isoform I.3|hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)|hypoxia-inducible factor 1-alpha|hypoxia-inducible factor1alpha|member of PAS protein 1|member of PAS superfamily 1 20141222 9606 3098 HK1 - HK1-ta|HK1-tb|HK1-tc|HKD|HKI|HMSNR|HXK1 MIM:142600|HGNC:HGNC:4922|Ensembl:ENSG00000156515|HPRD:00809|Vega:OTTHUMG00000018380 10 10q22 hexokinase 1 protein-coding HK1 hexokinase 1 O HK I|brain form hexokinase|glycolytic enzyme|hexokinase type I|hexokinase-1 20141207 9606 3099 HK2 - HKII|HXK2 MIM:601125|HGNC:HGNC:4923|Ensembl:ENSG00000159399|HPRD:03080|Vega:OTTHUMG00000129972 2 2p13 hexokinase 2 protein-coding HK2 hexokinase 2 O HK II|hexokinase type II|hexokinase-2|hexokinase-2, muscle|muscle form hexokinase 20141207 9606 3101 HK3 - HKIII|HXK3 MIM:142570|HGNC:HGNC:4925|Ensembl:ENSG00000160883|HPRD:00806|Vega:OTTHUMG00000130855 5 5q35.2 hexokinase 3 (white cell) protein-coding HK3 hexokinase 3 (white cell) O ATP:D-hexose 6-phosphotransferase|HK III|hexokinase type III|hexokinase-3 20141207 9606 3145 HMBS - PBG-D|PBGD|PORC|UPS MIM:609806|HGNC:HGNC:4982|Ensembl:ENSG00000256269|HPRD:01440|Vega:OTTHUMG00000168295 11 11q23.3 hydroxymethylbilane synthase protein-coding HMBS hydroxymethylbilane synthase O porphobilinogen deaminase|porphyria, acute; Chester type|pre-uroporphyrinogen synthase|uroporphyrinogen I synthase|uroporphyrinogen I synthetase 20141219 9606 3155 HMGCL - HL MIM:613898|HGNC:HGNC:5005|Ensembl:ENSG00000117305|HPRD:02003|Vega:OTTHUMG00000002963 1 1p36.1-p35 3-hydroxymethyl-3-methylglutaryl-CoA lyase protein-coding HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase O 3-hydroxy-3-methylglutarate-CoA lyase|3-hydroxy-3-methylglutaryl-CoA lyase|3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase|HMG-CoA lyase|hydroxymethylglutaricaciduria|hydroxymethylglutaryl-CoA lyase, mitochondrial|mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase 20141207 9606 3156 HMGCR - LDLCQ3 MIM:142910|HGNC:HGNC:5006|Ensembl:ENSG00000113161|HPRD:00836|Vega:OTTHUMG00000102069 5 5q13.3-q14 3-hydroxy-3-methylglutaryl-CoA reductase protein-coding HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase O 3-hydroxy-3-methylglutaryl CoA reductase (NADPH)|3-hydroxy-3-methylglutaryl-Coenzyme A reductase|HMG-CoA reductase|hydroxymethylglutaryl-CoA reductase 20141207 9606 3157 HMGCS1 - HMGCS MIM:142940|HGNC:HGNC:5007|Ensembl:ENSG00000112972|HPRD:07515|Vega:OTTHUMG00000162231 5 5p14-p13 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) protein-coding HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) O 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase|3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)|hydroxymethylglutaryl-CoA synthase, cytoplasmic 20141207 9606 3158 HMGCS2 - - MIM:600234|HGNC:HGNC:5008|Ensembl:ENSG00000134240|HPRD:02580|Vega:OTTHUMG00000012101 1 1p13-p12 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) protein-coding HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) O 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)|HMG-CoA synthase|hydroxymethylglutaryl-CoA synthase, mitochondrial 20141207 9606 3161 HMMR - CD168|IHABP|RHAMM MIM:600936|HGNC:HGNC:5012|Ensembl:ENSG00000072571|HPRD:02963|Vega:OTTHUMG00000130381 5 5q34 hyaluronan-mediated motility receptor (RHAMM) protein-coding HMMR hyaluronan-mediated motility receptor (RHAMM) O hyaluronan mediated motility receptor|intracellular hyaluronic acid-binding protein|receptor for hyaluronan-mediated motility 20141222 9606 3162 HMOX1 CTA-286B10.6 HMOX1D|HO-1|HSP32|bK286B10 MIM:141250|HGNC:HGNC:5013|Ensembl:ENSG00000100292|HPRD:00782|Vega:OTTHUMG00000150960 22 22q13.1 heme oxygenase (decycling) 1 protein-coding HMOX1 heme oxygenase (decycling) 1 O heat shock protein, 32-kD|heme oxygenase 1 20141222 9606 3163 HMOX2 - HO-2 MIM:141251|HGNC:HGNC:5014|Ensembl:ENSG00000103415|HPRD:00783|Vega:OTTHUMG00000129473 16 16p13.3 heme oxygenase (decycling) 2 protein-coding HMOX2 heme oxygenase (decycling) 2 O heme oxygenase 2 20141207 9606 3176 HNMT - HMT|HNMT-S1|HNMT-S2 MIM:605238|HGNC:HGNC:5028|Ensembl:ENSG00000150540|HPRD:05575|Vega:OTTHUMG00000131751 2 2q22.1 histamine N-methyltransferase protein-coding HNMT histamine N-methyltransferase O - 20141207 9606 3184 HNRNPD - AUF1|AUF1A|HNRPD|P37|hnRNPD0 MIM:601324|HGNC:HGNC:5036|HPRD:03206 4 4q21 heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) protein-coding HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) O ARE-binding protein AUFI, type A|heterogeneous nuclear ribonucleoprotein D0|hnRNP D0 20141207 9606 3242 HPD - 4-HPPD|4HPPD|GLOD3|HPPDASE|PPD MIM:609695|HGNC:HGNC:5147|Ensembl:ENSG00000158104|HPRD:02041|Vega:OTTHUMG00000169081 12 12q24.31 4-hydroxyphenylpyruvate dioxygenase protein-coding HPD 4-hydroxyphenylpyruvate dioxygenase O 4-hydroxyphenylpyruvic acid oxidase|glyoxalase domain containing 3 20141207 9606 3251 HPRT1 - HGPRT|HPRT MIM:308000|HGNC:HGNC:5157|Ensembl:ENSG00000165704|HPRD:02388|Vega:OTTHUMG00000022452 X Xq26.1 hypoxanthine phosphoribosyltransferase 1 protein-coding HPRT1 hypoxanthine phosphoribosyltransferase 1 O HGPRTase|hypoxanthine-guanine phosphoribosyltransferase 20141219 9606 3283 HSD3B1 RP5-920G3.4 3BETAHSD|HSD3B|HSDB3|HSDB3A|I|SDR11E1 MIM:109715|HGNC:HGNC:5217|Ensembl:ENSG00000203857|HPRD:04920|Vega:OTTHUMG00000012525 1 1p13.1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 protein-coding HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 O 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1|3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I|3-beta-HSD I|3-beta-hydroxy-5-ene steroid dehydrogenase|3-beta-hydroxy-Delta(5)-steroid dehydrogenase|delta-5-3-ketosteroid isomerase|hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 1|progesterone reductase|short chain dehydrogenase/reductase family 11E, member 1|steroid Delta-isomerase|trophoblast antigen FDO161G 20141207 9606 3284 HSD3B2 RP5-871G17.2 HSD3B|HSDB|SDR11E2 MIM:613890|HGNC:HGNC:5218|Ensembl:ENSG00000203859|HPRD:01941|Vega:OTTHUMG00000012526 1 1p13.1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 protein-coding HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 O 3 beta-HSD type II|3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II|3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2|3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II|3-beta-HSD II|3-beta-HSD adrenal and gonadal type|3-beta-hydroxy-5-ene steroid dehydrogenase|3-beta-hydroxy-Delta(5)-steroid dehydrogenase|delta 5-delta 4-isomerase type II|progesterone reductase|short chain dehydrogenase/reductase family 11E, member 2 20141207 9606 3290 HSD11B1 - 11-DH|11-beta-HSD1|CORTRD2|HDL|HSD11|HSD11B|HSD11L|SDR26C1 MIM:600713|HGNC:HGNC:5208|Ensembl:ENSG00000117594|HPRD:07042|Vega:OTTHUMG00000036481 1 1q32-q41 hydroxysteroid (11-beta) dehydrogenase 1 protein-coding HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 O corticosteroid 11-beta-dehydrogenase isozyme 1|short chain dehydrogenase/reductase family 26C, member 1 20141207 9606 3292 HSD17B1 - EDH17B2|EDHB17|HSD17|SDR28C1 MIM:109684|HGNC:HGNC:5210|HPRD:00185 17 17q11-q21 hydroxysteroid (17-beta) dehydrogenase 1 protein-coding HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1 O 17-beta-HSD 1|17-beta-hydroxysteroid dehydrogenase type 1|20 alpha-hydroxysteroid dehydrogenase|20-alpha-HSD|E2DH|estradiol 17-beta-dehydrogenase 1|estradiol 17-beta-dehydrogenase-1|hydroxysteroid (17-beta) dehydrogenase 1 isoform|placental 17-beta-hydroxysteroid dehydrogenase|short chain dehydrogenase/reductase family 28CE, member 1 20141207 9606 3293 HSD17B3 RP11-240L7.3 EDH17B3|SDR12C2 MIM:605573|HGNC:HGNC:5212|Ensembl:ENSG00000130948|HPRD:05716|Vega:OTTHUMG00000020292 9 9q22 hydroxysteroid (17-beta) dehydrogenase 3 protein-coding HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 O 17-beta-HSD 3|17-beta-HSD3|17-beta-hydroxysteroid dehydrogenase type 3|short chain dehydrogenase/reductase family 12C, member 2|testicular 17-beta-hydroxysteroid dehydrogenase|testosterone 17-beta-dehydrogenase 3 20141207 9606 3295 HSD17B4 - DBP|MFE-2|MPF-2|PRLTS1|SDR8C1 MIM:601860|HGNC:HGNC:5213|Ensembl:ENSG00000133835|HPRD:03514|Vega:OTTHUMG00000128899 5 5q21 hydroxysteroid (17-beta) dehydrogenase 4 protein-coding HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 O 17-beta-HSD 4|17-beta-HSD IV|17-beta-hydroxysteroid dehydrogenase 4|17beta-estradiol dehydrogenase type IV|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase|D-3-hydroxyacyl-CoA dehydratase|D-bifunctional protein, peroxisomal|beta-hydroxyacyl dehydrogenase|beta-keto-reductase|multifunctional protein 2|peroxisomal multifunctional enzyme type 2|peroxisomal multifunctional protein 2|short chain dehydrogenase/reductase family 8C, member 1 20141207 9606 3304 HSPA1B DAAP-21F2.7 HSP70-1B|HSP70-2 MIM:603012|HGNC:HGNC:5233|Ensembl:ENSG00000204388|HPRD:06784|Vega:OTTHUMG00000031202 6 6p21.3 heat shock 70kDa protein 1B protein-coding HSPA1B heat shock 70kDa protein 1B O HSP70-1/HSP70-2|HSP70.1/HSP70.2|heat shock 70 kDa protein 1/2|heat shock 70 kDa protein 1A/1B|heat shock 70kD protein 1B 20141207 9606 3312 HSPA8 - HEL-33|HEL-S-72p|HSC54|HSC70|HSC71|HSP71|HSP73|HSPA10|LAP-1|LAP1|NIP71 MIM:600816|HGNC:HGNC:5241|Ensembl:ENSG00000109971|HPRD:07205|Vega:OTTHUMG00000166030 11 11q24.1 heat shock 70kDa protein 8 protein-coding HSPA8 heat shock 70kDa protein 8 O LPS-associated protein 1|N-myristoyltransferase inhibitor protein 71|constitutive heat shock protein 70|epididymis luminal protein 33|epididymis secretory sperm binding protein Li 72p|heat shock 70kd protein 10|heat shock cognate 71 kDa protein|heat shock cognate protein 54|lipopolysaccharide-associated protein 1 20141207 9606 3313 HSPA9 - CRP40|CSA|GRP-75|GRP75|HEL-S-124m|HSPA9B|MOT|MOT2|MTHSP75|PBP74 MIM:600548|HGNC:HGNC:5244|Ensembl:ENSG00000113013|HPRD:02770|Vega:OTTHUMG00000129206 5 5q31.1 heat shock 70kDa protein 9 (mortalin) protein-coding HSPA9 heat shock 70kDa protein 9 (mortalin) O 75 kDa glucose-regulated protein|catecholamine-regulated protein 40|epididymis secretory sperm binding protein Li 124m|heat shock 70kD protein 9B|mortalin, perinuclear|mortalin-2|p66-mortalin|peptide-binding protein 74|stress-70 protein, mitochondrial 20141222 9606 3315 HSPB1 - CMT2F|HEL-S-102|HMN2B|HS.76067|HSP27|HSP28|Hsp25|SRP27 MIM:602195|HGNC:HGNC:5246|Ensembl:ENSG00000106211|HPRD:09076|Vega:OTTHUMG00000023228 7 7q11.23 heat shock 27kDa protein 1 protein-coding HSPB1 heat shock 27kDa protein 1 O 28 kDa heat shock protein|HSP 27|epididymis secretory protein Li 102|estrogen-regulated 24 kDa protein|heat shock 27 kDa protein|heat shock 27kD protein 1|heat shock protein beta-1|stress-responsive protein 27 20141219 9606 3329 HSPD1 - CPN60|GROEL|HLD4|HSP-60|HSP60|HSP65|HuCHA60|SPG13 MIM:118190|HGNC:HGNC:5261|Ensembl:ENSG00000144381|HPRD:00318|Vega:OTTHUMG00000154463 2 2q33.1 heat shock 60kDa protein 1 (chaperonin) protein-coding HSPD1 heat shock 60kDa protein 1 (chaperonin) O 60 kDa chaperonin|60 kDa heat shock protein, mitochondrial|P60 lymphocyte protein|chaperonin 60|heat shock protein 65|mitochondrial matrix protein P1|short heat shock protein 60 Hsp60s1 20141207 9606 3339 HSPG2 RP11-132G19.2 HSPG|PLC|PRCAN|SJA|SJS|SJS1 MIM:142461|HGNC:HGNC:5273|Ensembl:ENSG00000142798|HPRD:00804|Vega:OTTHUMG00000002674 1 1p36.1-p34 heparan sulfate proteoglycan 2 protein-coding HSPG2 heparan sulfate proteoglycan 2 O basement membrane-specific heparan sulfate proteoglycan core protein|endorepellin (domain V region)|perlecan proteoglycan 20141207 9606 3340 NDST1 - HSST|MRT46|NST1 MIM:600853|HGNC:HGNC:7680|Ensembl:ENSG00000070614|HPRD:02912|Vega:OTTHUMG00000163572 5 5q33.1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 protein-coding NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 O HSNST 1|N-HSST 1|N-heparan sulfate sulfotransferase 1|NDST-1|[Heparan sulfate]-glucosamine N-sulfotransferase 1|bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1|glucosaminyl N-deacetylase/N-sulfotransferase 1|heparan sulfate-N-deacetylase/N-sulfotransferase 20141222 9606 3373 HYAL1 - HYAL-1|LUCA1|NAT6 MIM:607071|HGNC:HGNC:5320|Ensembl:ENSG00000114378|HPRD:06146|Vega:OTTHUMG00000156941 3 3p21.31 hyaluronoglucosaminidase 1 protein-coding HYAL1 hyaluronoglucosaminidase 1 O hyaluronidase-1|luCa-1|lung carcinoma protein 1|plasma hyaluronidase|tumor suppressor LUCA-1 20141207 9606 3417 IDH1 - HEL-216|HEL-S-26|IDCD|IDH|IDP|IDPC|PICD MIM:147700|HGNC:HGNC:5382|Ensembl:ENSG00000138413|HPRD:00984|Vega:OTTHUMG00000132943 2 2q33.3 isocitrate dehydrogenase 1 (NADP+), soluble protein-coding IDH1 isocitrate dehydrogenase 1 (NADP+), soluble O NADP(+)-specific ICDH|NADP-dependent isocitrate dehydrogenase, cytosolic|NADP-dependent isocitrate dehydrogenase, peroxisomal|epididymis luminal protein 216|epididymis secretory protein Li 26|isocitrate dehydrogenase [NADP] cytoplasmic|oxalosuccinate decarboxylase 20141222 9606 3418 IDH2 - D2HGA2|ICD-M|IDH|IDHM|IDP|IDPM|mNADP-IDH MIM:147650|HGNC:HGNC:5383|HPRD:00973 15 15q26.1 isocitrate dehydrogenase 2 (NADP+), mitochondrial protein-coding IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial O NADP(+)-specific ICDH|isocitrate dehydrogenase [NADP], mitochondrial|oxalosuccinate decarboxylase 20141207 9606 3419 IDH3A - - MIM:601149|HGNC:HGNC:5384|HPRD:03094 15 15q25.1-q25.2 isocitrate dehydrogenase 3 (NAD+) alpha protein-coding IDH3A isocitrate dehydrogenase 3 (NAD+) alpha O H-IDH alpha|NAD(+)-specific ICDH subunit alpha|NAD(H)-specific isocitrate dehydrogenase alpha subunit|NAD+-specific ICDH|isocitrate dehydrogenase (NAD+) alpha chain|isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial|isocitric dehydrogenase subunit alpha 20141207 9606 3420 IDH3B RP4-686C3.2 H-IDHB|RP46 MIM:604526|HGNC:HGNC:5385|Ensembl:ENSG00000101365|HPRD:05163|Vega:OTTHUMG00000031699 20 20p13 isocitrate dehydrogenase 3 (NAD+) beta protein-coding IDH3B isocitrate dehydrogenase 3 (NAD+) beta O NAD(+)-specific ICDH subunit beta|NAD+-specific ICDH|NAD+-specific isocitrate dehydrogenase b subunit|NAD+-specific isocitrate dehydrogenase beta|isocitrate dehydrogenase [NAD] subunit beta, mitochondrial|isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, beta subunit|isocitric dehydrogenase subunit beta 20141219 9606 3421 IDH3G hCG_2004980 H-IDHG MIM:300089|HGNC:HGNC:5386|Ensembl:ENSG00000067829|HPRD:02100|Vega:OTTHUMG00000024219 X Xq28 isocitrate dehydrogenase 3 (NAD+) gamma protein-coding IDH3G isocitrate dehydrogenase 3 (NAD+) gamma O IDH-gamma|NAD (H)-specific isocitrate dehydrogenase gamma subunit|NAD(+)-specific ICDH subunit gamma|NAD+-specific ICDH|isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial|isocitrate dehydrogenase, NAD(+)-specific, mitochondrial, gamma subunit|isocitric dehydrogenase subunit gamma 20141207 9606 3422 IDI1 - IPP1|IPPI1 MIM:604055|HGNC:HGNC:5387|Ensembl:ENSG00000067064|HPRD:07235|Vega:OTTHUMG00000017536 10 10p15.3 isopentenyl-diphosphate delta isomerase 1 protein-coding IDI1 isopentenyl-diphosphate delta isomerase 1 O IPP isomerase 1|isopentenyl diphosphate dimethylallyl diphosphate isomerase 1|isopentenyl pyrophosphate isomerase 1|isopentenyl-diphosphate Delta-isomerase 1 20141207 9606 3423 IDS - MPS2|SIDS MIM:300823|HGNC:HGNC:5389|Ensembl:ENSG00000010404|HPRD:02402|Vega:OTTHUMG00000022615 X Xq28 iduronate 2-sulfatase protein-coding IDS iduronate 2-sulfatase O alpha-L-iduronate sulfate sulfatase|iduronate 2-sulfatase 14 kDa chain|iduronate 2-sulfatase 42 kDa chain|idursulfase 20141219 9606 3425 IDUA - IDA|MPS1 MIM:252800|HGNC:HGNC:5391|Ensembl:ENSG00000127415|HPRD:02016|Vega:OTTHUMG00000088901 4 4p16.3 iduronidase, alpha-L- protein-coding IDUA iduronidase, alpha-L- O alpha-L-iduronidase 20141219 9606 3612 IMPA1 - IMP|IMPA MIM:602064|HGNC:HGNC:6050|HPRD:03641 8 8q21.13-q21.3 inositol(myo)-1(or 4)-monophosphatase 1 protein-coding IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 O D-galactose 1-phosphate phosphatase|IMP 1|IMPase 1|inositol monophosphatase 1|inositol-1(or 4)-monophosphatase 1|lithium-sensitive myo-inositol monophosphatase A1 20141209 9606 3613 IMPA2 - - MIM:605922|HGNC:HGNC:6051|Ensembl:ENSG00000141401|HPRD:09329|Vega:OTTHUMG00000131693 18 18p11.2 inositol(myo)-1(or 4)-monophosphatase 2 protein-coding IMPA2 inositol(myo)-1(or 4)-monophosphatase 2 O IMP 2|IMPase 2|inosine monophosphatase 2|inositol monophosphatase 2|inositol monophosphatase 2 variant 1|inositol monophosphatase 2 variant 2|myo-inositol monophosphatase A2 20141207 9606 3614 IMPDH1 - IMPD|IMPD1|LCA11|RP10|sWSS2608 MIM:146690|HGNC:HGNC:6052|Ensembl:ENSG00000106348|HPRD:08853|Vega:OTTHUMG00000157713 7 7q31.3-q32 IMP (inosine 5'-monophosphate) dehydrogenase 1 protein-coding IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 O IMP (inosine monophosphate) dehydrogenase 1|IMP dehydrogenase 1|IMPD 1|IMPDH 1|IMPDH-I|inosine-5'-monophosphate dehydrogenase 1 20141219 9606 3615 IMPDH2 hCG_2002013 IMPD2|IMPDH-II MIM:146691|HGNC:HGNC:6053|Ensembl:ENSG00000178035|HPRD:00895|Vega:OTTHUMG00000156771 3 3p21.2 IMP (inosine 5'-monophosphate) dehydrogenase 2 protein-coding IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2 O IMP (inosine monophosphate) dehydrogenase 2|IMP oxireductase 2|IMPD 2|IMPDH 2|inosine 5' phosphate dehydrogenase 2|inosine monophosphate dehydrogenase type II|inosine-5'-monophosphate dehydrogenase 2 20141207 9606 3620 IDO1 - IDO|IDO-1|INDO MIM:147435|HGNC:HGNC:6059|HPRD:00935 8 8p12-p11 indoleamine 2,3-dioxygenase 1 protein-coding IDO1 indoleamine 2,3-dioxygenase 1 O indolamine 2,3 dioxygenase|indole 2,3-dioxygenase|indoleamine-pyrrole 2,3-dioxygenase 20141222 9606 3623 INHA - - MIM:147380|HGNC:HGNC:6065|Ensembl:ENSG00000123999|HPRD:00933|Vega:OTTHUMG00000059237 2 2q35 inhibin, alpha protein-coding INHA inhibin, alpha O A-inhibin subunit|inhibin alpha chain 20141219 9606 3624 INHBA - EDF|FRP MIM:147290|HGNC:HGNC:6066|HPRD:00929 7 7p15-p13 inhibin, beta A protein-coding INHBA inhibin, beta A O FSH-releasing protein|Inhibin, beta-1|activin beta-A chain|erythroid differentiation factor|erythroid differentiation protein|follicle-stimulating hormone-releasing protein|inhibin beta A chain|inhibin, beta A (activin A, activin AB alpha polypeptide) 20141222 9606 3625 INHBB - - MIM:147390|HGNC:HGNC:6067|Ensembl:ENSG00000163083|HPRD:00934|Vega:OTTHUMG00000131437 2 2cen-q13 inhibin, beta B protein-coding INHBB inhibin, beta B O Inhibin, beta-2|activin AB beta polypeptide|activin beta-B chain|inhibin beta B chain 20141207 9606 3626 INHBC - IHBC MIM:601233|HGNC:HGNC:6068|HPRD:03136 12 12q13.1 inhibin, beta C protein-coding INHBC inhibin, beta C O activin beta-C chain|inhibin beta C chain 20141207 9606 3628 INPP1 - - MIM:147263|HGNC:HGNC:6071|Ensembl:ENSG00000151689|HPRD:00923|Vega:OTTHUMG00000132672 2 2q32 inositol polyphosphate-1-phosphatase protein-coding INPP1 inositol polyphosphate-1-phosphatase O IPP|IPPase|inositol polyphosphate 1-phosphatase 20141207 9606 3630 INS - IDDM|IDDM1|IDDM2|ILPR|IRDN|MODY10 MIM:176730|HGNC:HGNC:6081|Ensembl:ENSG00000254647|HPRD:01455|Vega:OTTHUMG00000009558 11 11p15.5 insulin protein-coding INS insulin O preproinsulin|proinsulin 20141222 9606 3631 INPP4A - INPP4|TVAS1 MIM:600916|HGNC:HGNC:6074|Ensembl:ENSG00000040933|HPRD:02949|Vega:OTTHUMG00000153106 2 2q11.2 inositol polyphosphate-4-phosphatase, type I, 107kDa protein-coding INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa O inositol polyphosphate-4-phosphatase, type I, 107kD|type I inositol 3,4-bisphosphate 4-phosphatase|type I inositol-3,4-bisphosphate 4-phosphatase 20141207 9606 3632 INPP5A RP11-288G11.1 5PTASE MIM:600106|HGNC:HGNC:6076|Ensembl:ENSG00000068383|HPRD:02521|Vega:OTTHUMG00000019293 10 10q26.3 inositol polyphosphate-5-phosphatase, 40kDa protein-coding INPP5A inositol polyphosphate-5-phosphatase, 40kDa O 43 kDa inositol polyphosphate 5-phophatase|CTCL tumor antigen HD-CL-02|InsP3 5-phosphatase|inositol polyphosphate-5-phosphatase, 40kD|inositol trisphosphate-5-phosphatase, 40kD|type I inositol 1,4,5-trisphosphate 5-phosphatase|type I inositol-1,4,5-trisphosphate 5-phophatase|type I inositol-1,4,5-trisphosphate 5-phosphatase 20141207 9606 3633 INPP5B RP11-109P14.7 5PTase MIM:147264|HGNC:HGNC:6077|Ensembl:ENSG00000204084|HPRD:00924|Vega:OTTHUMG00000004436 1 1p34 inositol polyphosphate-5-phosphatase, 75kDa protein-coding INPP5B inositol polyphosphate-5-phosphatase, 75kDa O phosphoinositide 5-phosphatase|type II inositol 1,4,5-trisphosphate 5-phosphatase 20141207 9606 3636 INPPL1 - OPSMD|SHIP2 MIM:600829|HGNC:HGNC:6080|Ensembl:ENSG00000165458|HPRD:02900|Vega:OTTHUMG00000167879 11 11q13 inositol polyphosphate phosphatase-like 1 protein-coding INPPL1 inositol polyphosphate phosphatase-like 1 O 51C protein|INPPL-1|SH2 domain-containing inositol 5'-phosphatase 2|SH2 domain-containing inositol-5'-phosphatase 2|SHIP-2|phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 2|protein 51C 20141207 9606 3646 EIF3E - EIF3-P48|EIF3S6|INT6|eIF3-p46 MIM:602210|HGNC:HGNC:3277|Ensembl:ENSG00000104408|HPRD:03734|Vega:OTTHUMG00000164858 8 8q22-q23 eukaryotic translation initiation factor 3, subunit E protein-coding EIF3E eukaryotic translation initiation factor 3, subunit E O eIF-3 p48|eukaryotic translation initiation factor 3 subunit 6|eukaryotic translation initiation factor 3 subunit E|eukaryotic translation initiation factor 3, subunit 6 (48kD)|eukaryotic translation initiation factor 3, subunit 6 48kDa|mammary tumor-associated protein INT6|murine mammary tumor integration site 6 (oncogene homolog)|viral integration site protein INT-6 homolog 20141222 9606 3670 ISL1 - ISLET1|Isl-1 MIM:600366|HGNC:HGNC:6132|Ensembl:ENSG00000016082|HPRD:02650|Vega:OTTHUMG00000162281 5 5q11.1 ISL LIM homeobox 1 protein-coding ISL1 ISL LIM homeobox 1 O ISL1 transcription factor, LIM/homeodomain|insulin gene enhancer protein ISL-1|islet-1 20141207 9606 3703 STT3A - ITM1|STT3-A|TMC MIM:601134|HGNC:HGNC:6172|Ensembl:ENSG00000134910|HPRD:03086|Vega:OTTHUMG00000165852 11 11q23.3 STT3A, subunit of the oligosaccharyltransferase complex (catalytic) protein-coding STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic) O B5|STT3, subunit of the oligosaccharyltransferase complex, homolog A|STT3A, cataylic subunit of the oligosaccharyltransferase complex|dolichyl-diphosphooligosaccharide protein glycotransferase|dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A|integral membrane protein 1|integral transmembrane protein 1|oligosaccharyl transferase subunit STT3A|transmembrane conserved|transmembrane protein TMC 20141219 9606 3704 ITPA My049 C20orf37|HLC14-06-P|dJ794I6.3 MIM:147520|HGNC:HGNC:6176|Ensembl:ENSG00000125877|HPRD:08856|Vega:OTTHUMG00000031738 20 20p inosine triphosphatase (nucleoside triphosphate pyrophosphatase) protein-coding ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) O ITPase|NTPase|inosine triphosphatase-A|inosine triphosphate pyrophosphatase|inosine triphosphate pyrophosphohydrolase|non-canonical purine NTP pyrophosphatase|non-standard purine NTP pyrophosphatase|nucleoside-triphosphate diphosphatase|putative oncogene protein HLC14-06-P 20141207 9606 3705 ITPK1 - ITRPK1 MIM:601838|HGNC:HGNC:6177|Ensembl:ENSG00000100605|HPRD:03501|Vega:OTTHUMG00000171226 14 14q31 inositol-tetrakisphosphate 1-kinase protein-coding ITPK1 inositol-tetrakisphosphate 1-kinase O inositol 1,3,4-triphosphate 5/6 kinase|inositol 1,3,4-trisphosphate 5/6 kinase|inositol 1,3,4-trisphosphate 5/6-kinase|inositol-triphosphate 5/6-kinase|ins(1,3,4)P(3) 5/6-kinase 20141207 9606 3706 ITPKA - IP3-3KA|IP3KA MIM:147521|HGNC:HGNC:6178|Ensembl:ENSG00000137825|HPRD:00941|Vega:OTTHUMG00000130343 15 15q15.1 inositol-trisphosphate 3-kinase A protein-coding ITPKA inositol-trisphosphate 3-kinase A O IP3 3-kinase A|IP3K A|inositol 1,4,5-trisphosphate 3-kinase A|insP 3-kinase A 20141222 9606 3707 ITPKB - IP3-3KB|IP3K|IP3K-B|IP3KB|PIG37 MIM:147522|HGNC:HGNC:6179|Ensembl:ENSG00000143772|HPRD:00942|Vega:OTTHUMG00000037582 1 1q42.13 inositol-trisphosphate 3-kinase B protein-coding ITPKB inositol-trisphosphate 3-kinase B O IP3 3-kinase B|IP3K B|inositol 1,4,5-trisphosphate 3-kinase B|insP 3-kinase B|proliferation-inducing protein 37 20141207 9606 3709 ITPR2 - CFAP48|IP3R2 MIM:600144|HGNC:HGNC:6181|Ensembl:ENSG00000123104|HPRD:02536|Vega:OTTHUMG00000169181 12 12p11 inositol 1,4,5-trisphosphate receptor, type 2 protein-coding ITPR2 inositol 1,4,5-trisphosphate receptor, type 2 O IP3 receptor|IP3R 2|cilia and flagella associated protein 48|inositol 1,4,5-triphosphate receptor, type 2|inositol 1,4,5-trisphosphate receptor type 2|insP3R2|type 2 InsP3 receptor|type 2 inositol 1,4,5-trisphosphate receptor 20141207 9606 3710 ITPR3 - IP3R|IP3R3 MIM:147267|HGNC:HGNC:6182|Ensembl:ENSG00000096433|HPRD:00926|Vega:OTTHUMG00000014532 6 6p21 inositol 1,4,5-trisphosphate receptor, type 3 protein-coding ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 O IP3 receptor|inositol 1,4,5-triphosphate receptor, type 3|inositol 1,4,5-trisphosphate receptor type 3|insP3R3|type 3 InsP3 receptor 20141207 9606 3712 IVD - ACAD2 MIM:607036|HGNC:HGNC:6186|Ensembl:ENSG00000128928|HPRD:09516|Vega:OTTHUMG00000129984 15 15q14-q15 isovaleryl-CoA dehydrogenase protein-coding IVD isovaleryl-CoA dehydrogenase O isovaleryl CoA dehydrogenase|isovaleryl Coenzyme A dehydrogenase|isovaleryl-CoA dehydrogenase, mitochondrial 20141211 9606 3745 KCNB1 - DRK1|EIEE26|KV2.1|h-DRK1 MIM:600397|HGNC:HGNC:6231|HPRD:08983 20 20q13.2 potassium voltage-gated channel, Shab-related subfamily, member 1 protein-coding KCNB1 potassium voltage-gated channel, Shab-related subfamily, member 1 O delayed rectifier potassium channel 1|delayed rectifier potassium channel Kv2.1|h-DRK1 K(+) channel|potassium channel protein DRK1|potassium voltage-gated channel subfamily B member 1|voltage-gated potassium channel subunit Kv2.1 20141222 9606 3747 KCNC2 - KV3.2 MIM:176256|HGNC:HGNC:6234|Ensembl:ENSG00000166006|HPRD:08883|Vega:OTTHUMG00000169717 12 12q14.1 potassium voltage-gated channel, Shaw-related subfamily, member 2 protein-coding KCNC2 potassium voltage-gated channel, Shaw-related subfamily, member 2 O potassium voltage-gated channel subfamily C member 2|voltage-gated potassium channel Kv3.2 20141207 9606 3767 KCNJ11 - BIR|HHF2|IKATP|KIR6.2|PHHI|TNDM3 MIM:600937|HGNC:HGNC:6257|Ensembl:ENSG00000187486|HPRD:09022|Vega:OTTHUMG00000165914 11 11p15.1 potassium inwardly-rectifying channel, subfamily J, member 11 protein-coding KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11 O ATP-sensitive inward rectifier potassium channel 11|beta-cell inward rectifier subunit|inward rectifier K(+) channel Kir6.2|inwardly rectifying potassium channel KIR6.2|potassium channel inwardly rectifing subfamily J member 11|potassium channel, inwardly rectifying subfamily J member 11 20141222 9606 3790 KCNS3 - KV9.3 MIM:603888|HGNC:HGNC:6302|Ensembl:ENSG00000170745|HPRD:04865|Vega:OTTHUMG00000044150 2 2p24 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 protein-coding KCNS3 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 O Shab-related delayed-rectifier K+ channel alpha subunit 3|delayed-rectifier K(+) channel alpha subunit 3|potassium voltage-gated channel delayed-rectifier protein S3|potassium voltage-gated channel subfamily S member 3|voltage-gated potassium channel protein Kv9.3|voltage-gated potassium channel subunit Kv9.3 20141207 9606 3795 KHK - - MIM:614058|HGNC:HGNC:6315|Ensembl:ENSG00000138030|HPRD:11774|Vega:OTTHUMG00000097077 2 2p23.3 ketohexokinase (fructokinase) protein-coding KHK ketohexokinase (fructokinase) O hepatic fructokinase|ketohexokinase 20141207 9606 3801 KIFC3 - - MIM:604535|HGNC:HGNC:6326|Ensembl:ENSG00000140859|HPRD:05171|Vega:OTTHUMG00000133455 16 16q13-q21 kinesin family member C3 protein-coding KIFC3 kinesin family member C3 O kinesin-like protein KIFC3 20141207 9606 3842 TNPO1 - IPO2|KPNB2|MIP|MIP1|TRN MIM:602901|HGNC:HGNC:6401|HPRD:04210 5 5q13.2 transportin 1 protein-coding TNPO1 transportin 1 O M9 region interaction protein|importin 2|importin beta 2|importin beta-2|karyopherin (importin) beta 2|karyopherin beta-2|transportin-1 20141207 9606 3906 LALBA - - MIM:149750|HGNC:HGNC:6480|Ensembl:ENSG00000167531|HPRD:01024|Vega:OTTHUMG00000170391 12 12q13 lactalbumin, alpha- protein-coding LALBA lactalbumin, alpha- O alpha-lactalbumin|lactose synthase B protein|lysozyme-like protein 7 20141207 9606 3921 RPSA - 37LRP|67LR|ICAS|LAMBR|LAMR1|LBP|LBP/p40|LRP|LRP/LR|NEM/1CHD4|SA|lamR|p40 MIM:150370|HGNC:HGNC:6502|Ensembl:ENSG00000168028|HPRD:01038|Vega:OTTHUMG00000131296 3 3p22.2 ribosomal protein SA protein-coding RPSA ribosomal protein SA O 37 kDa laminin receptor|37/67 kDa laminin receptor|37LRP|40S ribosomal protein SA|67 kDa laminin receptor|67LR|LBP/p40|LRP/LR|colon carcinoma laminin-binding protein|lamR|laminin receptor 1 (67kD, ribosomal protein SA)|laminin-binding protein precursor p40|multidrug resistance-associated protein MGr1-Ag 20141207 9606 3930 LBR PRO0650 DHCR14B|LMN2R|PHA|TDRD18 MIM:600024|HGNC:HGNC:6518|Ensembl:ENSG00000143815|HPRD:02488|Vega:OTTHUMG00000037520 1 1q42.1 lamin B receptor protein-coding LBR lamin B receptor O integral nuclear envelope inner membrane protein|lamin-B receptor|tudor domain containing 18 20141207 9606 3931 LCAT - - MIM:606967|HGNC:HGNC:6522|Ensembl:ENSG00000213398|HPRD:06098|Vega:OTTHUMG00000137551 16 16q22.1 lecithin-cholesterol acyltransferase protein-coding LCAT lecithin-cholesterol acyltransferase O phosphatidylcholine-sterol acyltransferase|phospholipid-cholesterol acyltransferase 20141207 9606 3938 LCT - LAC|LPH|LPH1 MIM:603202|HGNC:HGNC:6530|Ensembl:ENSG00000115850|HPRD:04437|Vega:OTTHUMG00000131738 2 2q21 lactase protein-coding LCT lactase O lactase-glycosylceramidase|lactase-phlorizin hydrolase|lactase-phlorizin hydrolase-1 20141207 9606 3939 LDHA PIG19 GSD11|HEL-S-133P|LDH1|LDHM MIM:150000|HGNC:HGNC:6535|Ensembl:ENSG00000134333|HPRD:01025|Vega:OTTHUMG00000167721 11 11p15.4 lactate dehydrogenase A protein-coding LDHA lactate dehydrogenase A O L-lactate dehydrogenase A chain|LDH muscle subunit|LDH-A|LDH-M|cell proliferation-inducing gene 19 protein|epididymis secretory sperm binding protein Li 133P|lactate dehydrogenase M|proliferation-inducing gene 19|renal carcinoma antigen NY-REN-59 20141222 9606 3945 LDHB - HEL-S-281|LDH-B|LDH-H|LDHBD|TRG-5 MIM:150100|HGNC:HGNC:6541|Ensembl:ENSG00000111716|HPRD:01026|Vega:OTTHUMG00000133760 12 12p12.2-p12.1 lactate dehydrogenase B protein-coding LDHB lactate dehydrogenase B O L-lactate dehydrogenase B chain|LDH heart subunit|epididymis secretory protein Li 281|lactate dehydrogenase H chain|renal carcinoma antigen NY-REN-46 20141222 9606 3948 LDHC - CT32|LDH3|LDHX MIM:150150|HGNC:HGNC:6544|Ensembl:ENSG00000166796|HPRD:01027|Vega:OTTHUMG00000167722 11 11p15.1 lactate dehydrogenase C protein-coding LDHC lactate dehydrogenase C O L-lactate dehydrogenase C chain|LDH testis subunit|LDH-C|LDH-X|cancer/testis antigen 32|lactate dehydrogenase C4|lactate dehydrogenase c variant 1|lactate dehydrogenase c variant 3|lactate dehydrogenase c variant 4 20141207 9606 3949 LDLR - FH|FHC|LDLCQ2 MIM:606945|HGNC:HGNC:6547|Ensembl:ENSG00000130164|HPRD:06091|Vega:OTTHUMG00000171935 19 19p13.2 low density lipoprotein receptor protein-coding LDLR low density lipoprotein receptor O LDL receptor|low-density lipoprotein receptor|low-density lipoprotein receptor class A domain-containing protein 3 20141222 9606 3952 LEP - LEPD|OB|OBS MIM:164160|HGNC:HGNC:6553|Ensembl:ENSG00000174697|HPRD:01249|Vega:OTTHUMG00000157564 7 7q31.3 leptin protein-coding LEP leptin O leptin (murine obesity homolog)|leptin (obesity homolog, mouse)|obese protein|obese, mouse, homolog of|obesity factor 20141222 9606 3972 LHB - CGB4|LSH-B|hLHB MIM:152780|HGNC:HGNC:6584|Ensembl:ENSG00000104826|HPRD:01072|Vega:OTTHUMG00000183334 19 19q13.32 luteinizing hormone beta polypeptide protein-coding LHB luteinizing hormone beta polypeptide O LSH-beta|interstitial cell stimulating hormone, beta chain|luteinizing hormone beta subunit|lutropin beta chain|lutropin subunit beta 20141207 9606 3990 LIPC - HDLCQ12|HL|HTGL|LIPH MIM:151670|HGNC:HGNC:6619|Ensembl:ENSG00000166035|HPRD:01058|Vega:OTTHUMG00000132632 15 15q21-q23 lipase, hepatic protein-coding LIPC lipase, hepatic O hepatic lipase|hepatic triacylglycerol lipase|lipase member C 20141211 9606 3991 LIPE - AOMS4|HSL|LHS MIM:151750|HGNC:HGNC:6621|Ensembl:ENSG00000079435|HPRD:01062|Vega:OTTHUMG00000182814 19 19q13.2 lipase, hormone-sensitive protein-coding LIPE lipase, hormone-sensitive O hormone-sensitive lipase|hormone-sensitive lipase testicular isoform 20141207 9606 3992 FADS1 - D5D|FADS6|FADSD5|LLCDL1|TU12 MIM:606148|HGNC:HGNC:3574|Ensembl:ENSG00000149485|HPRD:06935|Vega:OTTHUMG00000157155 11 11q12.2-q13.1 fatty acid desaturase 1 protein-coding FADS1 fatty acid desaturase 1 O delta(5) desaturase|delta(5) fatty acid desaturase|delta-5 desaturase|delta-5 fatty acid desaturase|linoleoyl-CoA desaturase (delta-6-desaturase)-like 1 20141222 9606 3998 LMAN1 - ERGIC-53|ERGIC53|F5F8D|FMFD1|MCFD1|MR60|gp58 MIM:601567|HGNC:HGNC:6631|Ensembl:ENSG00000074695|HPRD:03338|Vega:OTTHUMG00000132758 18 18q21.3-q22 lectin, mannose-binding, 1 protein-coding LMAN1 lectin, mannose-binding, 1 O ER-Golgi intermediate compartment 53 kDa protein|endoplasmic reticulum-golgi intermediate compartment protein 53|intracellular mannose specific lectin|intracellular mannose-specific lectin MR60|protein ERGIC-53 20141207 9606 4018 LPA - AK38|APOA|LP MIM:152200|HGNC:HGNC:6667|Ensembl:ENSG00000198670|HPRD:01063|Vega:OTTHUMG00000015956 6 6q26 lipoprotein, Lp(a) protein-coding LPA lipoprotein, Lp(a) O antiangiogenic AK38 protein|apo(a)|apolipoprotein(a)|lp(a) 20141222 9606 4023 LPL - HDLCQ11|LIPD MIM:609708|HGNC:HGNC:6677|Ensembl:ENSG00000175445|HPRD:01999|Vega:OTTHUMG00000036645 8 8p22 lipoprotein lipase protein-coding LPL lipoprotein lipase O - 20141219 9606 4036 LRP2 - DBS|GP330 MIM:600073|HGNC:HGNC:6694|Ensembl:ENSG00000081479|HPRD:02509|Vega:OTTHUMG00000132179 2 2q31.1 low density lipoprotein receptor-related protein 2 protein-coding LRP2 low density lipoprotein receptor-related protein 2 O Heymann nephritis antigen homolog|LRP-2|calcium sensor protein|glycoprotein 330|low-density lipoprotein receptor-related protein 2|megalin 20141219 9606 4047 LSS - OSC MIM:600909|HGNC:HGNC:6708|Ensembl:ENSG00000160285|HPRD:02945|Vega:OTTHUMG00000090633 21 21q22.3 lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) protein-coding LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) O 2,3-epoxysqualene--lanosterol cyclase|2,3-epoxysqualene-lanosterol cyclase|hOSC|lanosterol synthase|oxidosqualene--lanosterol cyclase 20141207 9606 4048 LTA4H - - MIM:151570|HGNC:HGNC:6710|Ensembl:ENSG00000111144|HPRD:01056|Vega:OTTHUMG00000170355 12 12q22 leukotriene A4 hydrolase protein-coding LTA4H leukotriene A4 hydrolase O LTA-4 hydrolase|leukotriene A-4 hydrolase 20141207 9606 4056 LTC4S - - MIM:246530|HGNC:HGNC:6719|Ensembl:ENSG00000213316|HPRD:02004|Vega:OTTHUMG00000150314 5 5q35 leukotriene C4 synthase protein-coding LTC4S leukotriene C4 synthase O LTC4 synthase 20141207 9606 4060 LUM - LDC|SLRR2D MIM:600616|HGNC:HGNC:6724|HPRD:02793 12 12q21.33 lumican protein-coding LUM lumican O KSPG lumican|keratan sulfate proteoglycan lumican|lumican proteoglycan 20141207 9606 4082 MARCKS - 80K-L|MACS|PKCSL|PRKCSL MIM:177061|HGNC:HGNC:6759|Ensembl:ENSG00000277443|HPRD:07519|Vega:OTTHUMG00000188327 6 6q22.2 myristoylated alanine-rich protein kinase C substrate protein-coding MARCKS myristoylated alanine-rich protein kinase C substrate O myristoylated alanine-rich C-kinase substrate|myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)|phosphomyristin|protein kinase C substrate, 80 kDa protein, light chain 20141207 9606 4116 MAGOH RP5-1024G6.4 MAGOH1|MAGOHA MIM:602603|HGNC:HGNC:6815|Ensembl:ENSG00000162385|HPRD:04005|Vega:OTTHUMG00000008932 1 1p32.3 mago-nashi homolog, proliferation-associated (Drosophila) protein-coding MAGOH mago-nashi homolog, proliferation-associated (Drosophila) O protein mago nashi homolog 20141211 9606 4121 MAN1A1 - HUMM3|HUMM9|MAN9 MIM:604344|HGNC:HGNC:6821|Ensembl:ENSG00000111885|HPRD:05066|Vega:OTTHUMG00000015472 6 6q22 mannosidase, alpha, class 1A, member 1 protein-coding MAN1A1 mannosidase, alpha, class 1A, member 1 O Man9-mannosidase|alpha-1,2-mannosidase IA|man(9)-alpha-mannosidase|mannosyl-oligosaccharide 1,2-alpha-mannosidase IA|processing alpha-1,2-mannosidase IA 20141207 9606 4124 MAN2A1 - AMan II|GOLIM7|MANA2|MANII MIM:154582|HGNC:HGNC:6824|HPRD:01110 5 5q21.3 mannosidase, alpha, class 2A, member 1 protein-coding MAN2A1 mannosidase, alpha, class 2A, member 1 O Golgi alpha-mannosidase II|alpha-mannosidase 2|golgi integral membrane protein 7|mannosidase, alpha type II|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase 20141207 9606 4128 MAOA RP1-201D17__B.2 MAO-A MIM:309850|HGNC:HGNC:6833|Ensembl:ENSG00000189221|HPRD:02400 X Xp11.3 monoamine oxidase A protein-coding MAOA monoamine oxidase A O amine oxidase [flavin-containing] A|monoamine oxidase type A 20141222 9606 4129 MAOB RP1-201D17__B.1 - MIM:309860|HGNC:HGNC:6834|Ensembl:ENSG00000069535|HPRD:02401|Vega:OTTHUMG00000021388 X Xp11.23 monoamine oxidase B protein-coding MAOB monoamine oxidase B O MAO, brain|MAO, platelet|MAO-B|adrenalin oxidase|amine oxidase [flavin-containing] B|monoamine oxidase type B|tyramine oxidase 20141207 9606 4141 MARS - METRS|MRS|MTRNS|SPG70 MIM:156560|HGNC:HGNC:6898|Ensembl:ENSG00000166986|HPRD:08864|Vega:OTTHUMG00000169996 12 12q13.3 methionyl-tRNA synthetase protein-coding MARS methionyl-tRNA synthetase O cytosolic methionyl-tRNA synthetase|methionine--tRNA ligase, cytoplasmic 20141212 9606 4143 MAT1A RP11-36D19.2 MAT|MATA1|SAMS|SAMS1 MIM:610550|HGNC:HGNC:6903|Ensembl:ENSG00000151224|HPRD:02013|Vega:OTTHUMG00000018613 10 10q22 methionine adenosyltransferase I, alpha protein-coding MAT1A methionine adenosyltransferase I, alpha O MAT 1|MAT-I/III|S-adenosylmethionine synthase isoform type-1|S-adenosylmethionine synthetase isoform type-1|adoMet synthase 1|adoMet synthetase 1|methionine adenosyltransferase 1|methionine adenosyltransferase I/III 20141207 9606 4144 MAT2A - MATA2|MATII|SAMS2 MIM:601468|HGNC:HGNC:6904|Ensembl:ENSG00000168906|HPRD:03275|Vega:OTTHUMG00000130174 2 2p11.2 methionine adenosyltransferase II, alpha protein-coding MAT2A methionine adenosyltransferase II, alpha O MAT 2|MAT-II|S-adenosylmethionine synthase isoform type-2|adoMet synthase 2|adoMet synthetase 2|methionine adenosyltransferase 2 20141207 9606 4166 CHST6 - MCDC1 MIM:605294|HGNC:HGNC:6938|Ensembl:ENSG00000183196|HPRD:05597|Vega:OTTHUMG00000137612 16 16q22 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 protein-coding CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 O C-GlcNAc6ST|GST4-beta|N-acetylglucosamine 6-O-sulfotransferase 5|carbohydrate sulfotransferase 6|corneal N-acetylglucosamine 6-sulfotransferase|corneal N-acetylglucosamine-6-O-sulfotransferase|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta|glcNAc6ST-5|gn6st-5|hCGn6ST 20141207 9606 4190 MDH1 - HEL-S-32|MDH-s|MDHA|MGC:1375|MOR2 MIM:154200|HGNC:HGNC:6970|Ensembl:ENSG00000014641|HPRD:01100|Vega:OTTHUMG00000129512 2 2p13.3 malate dehydrogenase 1, NAD (soluble) protein-coding MDH1 malate dehydrogenase 1, NAD (soluble) O cytosolic malate dehydrogenase|diiodophenylpyruvate reductase|epididymis secretory protein Li 32|malate dehydrogenase, cytoplasmic|soluble malate dehydrogenase 20141207 9606 4191 MDH2 - M-MDH|MDH|MGC:3559|MOR1 MIM:154100|HGNC:HGNC:6971|Ensembl:ENSG00000146701|HPRD:01099|Vega:OTTHUMG00000023827 7 7cen-q22 malate dehydrogenase 2, NAD (mitochondrial) protein-coding MDH2 malate dehydrogenase 2, NAD (mitochondrial) O malate dehydrogenase, mitochondrial 20141207 9606 4199 ME1 - HUMNDME|MES MIM:154250|HGNC:HGNC:6983|Ensembl:ENSG00000065833|HPRD:01102|Vega:OTTHUMG00000015111 6 6q12 malic enzyme 1, NADP(+)-dependent, cytosolic protein-coding ME1 malic enzyme 1, NADP(+)-dependent, cytosolic O Malic enzyme, cytoplasmic|NADP-ME|NADP-dependent malic enzyme|malate dehydrogenase|malic enzyme 1, soluble|pyruvic-malic carboxylase 20141207 9606 4200 ME2 - ODS1 MIM:154270|HGNC:HGNC:6984|HPRD:01103 18 18q21 malic enzyme 2, NAD(+)-dependent, mitochondrial protein-coding ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial O NAD-ME|NAD-dependent malic enzyme, mitochondrial|malate dehydrogenase|pyruvic-malic carboxylase 20141207 9606 4245 MGAT1 - GLCNAC-TI|GLCT1|GLYT1|GNT-1|GNT-I|MGAT MIM:160995|HGNC:HGNC:7044|Ensembl:ENSG00000131446|HPRD:01189|Vega:OTTHUMG00000130937 5 5q35 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase protein-coding MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase O N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase I|alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase|glcNAc-T I 20141207 9606 4247 MGAT2 - CDG2A|CDGS2|GLCNACTII|GNT-II|GNT2 MIM:602616|HGNC:HGNC:7045|Ensembl:ENSG00000168282|HPRD:04013|Vega:OTTHUMG00000140271 14 14q21 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase protein-coding MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase O Beta-1,2-N-acetylglucosaminyltransferase II|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II|UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II|alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase|glcNAc-T II|mannoside acetylglucosaminyltransferase 2 20141219 9606 4248 MGAT3 RP5-1104E15.2 GNT-III|GNT3 MIM:604621|HGNC:HGNC:7046|Ensembl:ENSG00000128268|HPRD:07058|Vega:OTTHUMG00000030185 22 22q13.1 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase protein-coding MGAT3 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase O GlcNAc-T III|N-acetylglucosaminyltransferase III|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III|beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase 20141207 9606 4249 MGAT5 - GNT-V|GNT-VA MIM:601774|HGNC:HGNC:7049|Ensembl:ENSG00000152127|HPRD:03467|Vega:OTTHUMG00000131681 2 2q21.3 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase protein-coding MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase O N-acetylglucosaminyl-transferase V|alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A|alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase|glcNAc-T V|mannoside acetylglucosaminyltransferase 5 20141222 9606 4257 MGST1 - GST12|MGST|MGST-I MIM:138330|HGNC:HGNC:7061|Ensembl:ENSG00000008394|HPRD:00705|Vega:OTTHUMG00000168816 12 12p12.3-p12.1 microsomal glutathione S-transferase 1 protein-coding MGST1 microsomal glutathione S-transferase 1 O glutathione S-transferase 12|microsomal GST-1|microsomal GST-I 20141207 9606 4258 MGST2 - GST2|MGST-II MIM:601733|HGNC:HGNC:7063|Ensembl:ENSG00000085871|HPRD:03436|Vega:OTTHUMG00000133382 4 4q28.3 microsomal glutathione S-transferase 2 protein-coding MGST2 microsomal glutathione S-transferase 2 O microsomal GST-2|microsomal GST-II 20141207 9606 4259 MGST3 RP11-466F5.1 GST-III MIM:604564|HGNC:HGNC:7064|Ensembl:ENSG00000143198|HPRD:05192|Vega:OTTHUMG00000034627 1 1q23 microsomal glutathione S-transferase 3 protein-coding MGST3 microsomal glutathione S-transferase 3 O microsomal GST-3|microsomal GST-III|microsomal glutathione S-transferase III 20141207 9606 4282 MIF - GIF|GLIF|MMIF MIM:153620|HGNC:HGNC:7097|HPRD:01091 22 22q11.23 macrophage migration inhibitory factor (glycosylation-inhibiting factor) protein-coding MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) O L-dopachrome isomerase|L-dopachrome tautomerase|macrophage migration inhibitory factor|phenylpyruvate tautomerase 20141207 9606 4329 ALDH6A1 - MMSADHA|MMSDH MIM:603178|HGNC:HGNC:7179|Ensembl:ENSG00000119711|HPRD:04416|Vega:OTTHUMG00000171203 14 14q24.3 aldehyde dehydrogenase 6 family, member A1 protein-coding ALDH6A1 aldehyde dehydrogenase 6 family, member A1 O malonate-semialdehyde dehydrogenase|methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial|mitochondrial acylating methylmalonate-semialdehyde dehydrogenase 20141207 9606 4337 MOCS1 RP1-278E11.2 MIG11|MOCOD|MOCODA MIM:603707|HGNC:HGNC:7190|Ensembl:ENSG00000124615|HPRD:04749|Vega:OTTHUMG00000014656 6 6p21.3 molybdenum cofactor synthesis 1 protein-coding MOCS1 molybdenum cofactor synthesis 1 O MOCS1A enzyme|cell migration-inducing gene 11 protein|migration-inducing gene 11 protein|molybdenum cofactor biosynthesis protein 1|molybdenum cofactor biosynthesis protein A|molybdenum cofactor synthesis-step 1 protein A-B 20141207 9606 4338 MOCS2 - MCBPE|MOCO1|MOCODB|MPTS MIM:603708|HGNC:HGNC:7193|Ensembl:ENSG00000164172|HPRD:04750|Vega:OTTHUMG00000096981 5 5q11 molybdenum cofactor synthesis 2 protein-coding MOCS2 molybdenum cofactor synthesis 2 O MOCS2A|MOCS2B|molybdenum cofactor biosynthesis protein E|molybdopterin synthase small and large subunit|molybdopterin synthase sulfur carrier subunit 20141215 9606 4351 MPI - CDG1B|PMI|PMI1 MIM:154550|HGNC:HGNC:7216|Ensembl:ENSG00000178802|HPRD:01108|Vega:OTTHUMG00000142826 15 15q24.1 mannose phosphate isomerase protein-coding MPI mannose phosphate isomerase O mannose-6-phosphate isomerase|phosphohexomutase|phosphomannose isomerase 1 20141219 9606 4357 MPST LL22NC01-146D10.4 MST|TST2|TUM1 MIM:602496|HGNC:HGNC:7223|Ensembl:ENSG00000128309|HPRD:11896|Vega:OTTHUMG00000150543 22 22q13.1 mercaptopyruvate sulfurtransferase protein-coding MPST mercaptopyruvate sulfurtransferase O 3-mercaptopyruvate sulfurtransferase|human liver rhodanese|tRNA thiouridin modification protein 1 20141215 9606 4507 MTAP - BDMF|DMSFH|DMSMFH|HEL-249|LGMBF|MSAP|c86fus MIM:156540|HGNC:HGNC:7413|Ensembl:ENSG00000099810|HPRD:01134|Vega:OTTHUMG00000019690 9 9p21 methylthioadenosine phosphorylase protein-coding MTAP methylthioadenosine phosphorylase O 5'-methylthioadenosine phosphorylase|MTA phosphorylase|MTAPase|MeSAdo phosphorylase|S-methyl-5'-thioadenosine phosphorylase|epididymis luminal protein 249 20141207 9606 4522 MTHFD1 - MTHFC|MTHFD MIM:172460|HGNC:HGNC:7432|Ensembl:ENSG00000100714|HPRD:01403|Vega:OTTHUMG00000141309 14 14q24 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase protein-coding MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase O 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase|C-1-tetrahydrofolate synthase, cytoplasmic|C1-THF synthase|cytoplasmic C-1-tetrahydrofolate synthase 20141207 9606 4524 MTHFR RP11-56N19.4 - MIM:607093|HGNC:HGNC:7436|Ensembl:ENSG00000177000|HPRD:06158|Vega:OTTHUMG00000002277 1 1p36.3 methylenetetrahydrofolate reductase (NAD(P)H) protein-coding MTHFR methylenetetrahydrofolate reductase (NAD(P)H) O 5,10-methylenetetrahydrofolate reductase (NADPH)|methylenetetrahydrofolate reductase 20141222 9606 4534 MTM1 - CNM|MTMX|XLMTM MIM:300415|HGNC:HGNC:7448|Ensembl:ENSG00000171100|HPRD:02331|Vega:OTTHUMG00000024158 X Xq28 myotubularin 1 protein-coding MTM1 myotubularin 1 O myotubularin|phosphatidylinositol-3,5-bisphosphate 3-phosphatase|phosphatidylinositol-3-phosphate phosphatase 20141219 9606 4547 MTTP - ABL|MTP MIM:157147|HGNC:HGNC:7467|Ensembl:ENSG00000138823|HPRD:01144|Vega:OTTHUMG00000131023 4 4q24 microsomal triglyceride transfer protein protein-coding MTTP microsomal triglyceride transfer protein O microsomal triglyceride transfer protein (large polypeptide, 88kDa)|microsomal triglyceride transfer protein large subunit 20141207 9606 4548 MTR - HMAG|MS|cblG MIM:156570|HGNC:HGNC:7468|Ensembl:ENSG00000116984|HPRD:01136|Vega:OTTHUMG00000040060 1 1q43 5-methyltetrahydrofolate-homocysteine methyltransferase protein-coding MTR 5-methyltetrahydrofolate-homocysteine methyltransferase O 5-methyltetrahydrofolate-homocysteine methyltransferase 1|cobalamin-dependent methionine synthase|methionine synthase|vitamin-B12 dependent methionine synthase 20141219 9606 4580 MTX1 RP11-263K19.5 MTX|MTXN MIM:600605|HGNC:HGNC:7504|Ensembl:ENSG00000173171|HPRD:11861|Vega:OTTHUMG00000035708 1 1q21 metaxin 1 protein-coding MTX1 metaxin 1 O metaxin-1|mitochondrial outer membrane import complex protein 1 20141207 9606 4583 MUC2 - MLP|MUC-2|SMUC MIM:158370|HGNC:HGNC:7512|HPRD:11828 11 11p15.5 mucin 2, oligomeric mucus/gel-forming protein-coding MUC2 mucin 2, oligomeric mucus/gel-forming O intestinal mucin-2|mucin 2, intestinal/tracheal|mucin-2|mucin-like protein 20141207 9606 4585 MUC4 - ASGP|HSA276359|MUC-4 MIM:158372|HGNC:HGNC:7514|Ensembl:ENSG00000145113|HPRD:11829|Vega:OTTHUMG00000151827 3 3q29 mucin 4, cell surface associated protein-coding MUC4 mucin 4, cell surface associated O ascites sialoglycoprotein|mucin 4, tracheobronchial|mucin-4|pancreatic adenocarcinoma mucin|testis mucin|tracheobronchial mucin 20141207 9606 4586 MUC5AC - MUC5|TBM|leB MIM:158373|HGNC:HGNC:7515|Ensembl:ENSG00000215182|Vega:OTTHUMG00000154270 11 11p15.5 mucin 5AC, oligomeric mucus/gel-forming protein-coding MUC5AC mucin 5AC, oligomeric mucus/gel-forming O gastric mucin|lewis B blood group antigen|major airway glycoprotein|mucin 5, subtypes A and C, tracheobronchial/gastric|mucin 5AC, oligomeric mucus/gel-forming pseudogene|mucin-5 subtype AC, tracheobronchial|tracheobronchial mucin 20141222 9606 4588 MUC6 - MUC-6 MIM:158374|HGNC:HGNC:7517|Ensembl:ENSG00000184956|Vega:OTTHUMG00000165140 11 11p15.5 mucin 6, oligomeric mucus/gel-forming protein-coding MUC6 mucin 6, oligomeric mucus/gel-forming O gastric mucin-6|mucin 6, gastric|mucin-6 20141222 9606 4589 MUC7 - MG2 MIM:158375|HGNC:HGNC:7518|Ensembl:ENSG00000171195|HPRD:11759|Vega:OTTHUMG00000129916 4 4q13.3 mucin 7, secreted protein-coding MUC7 mucin 7, secreted O MUC-7|apo-MG2|mucin 7, salivary|mucin-7|salivary mucin-7 20141207 9606 4594 MUT - MCM MIM:609058|HGNC:HGNC:7526|Ensembl:ENSG00000146085|HPRD:02014|Vega:OTTHUMG00000014814 6 6p12.3 methylmalonyl CoA mutase protein-coding MUT methylmalonyl CoA mutase O methylmalonyl Coenzyme A mutase|methylmalonyl-CoA isomerase|methylmalonyl-CoA mutase, mitochondrial 20141219 9606 4597 MVD - FP17780|MPD MIM:603236|HGNC:HGNC:7529|Ensembl:ENSG00000167508|HPRD:04454|Vega:OTTHUMG00000137865 16 16q24.3 mevalonate (diphospho) decarboxylase protein-coding MVD mevalonate (diphospho) decarboxylase O MDDase|diphosphomevalonate decarboxylase|mevalonate pyrophosphate decarboxylase|mevalonate pyrophosphate decarboxylase 20141207 9606 4598 MVK - LRBP|MK|MVLK|POROK3 MIM:251170|HGNC:HGNC:7530|Ensembl:ENSG00000110921|HPRD:02015|Vega:OTTHUMG00000169256 12 12q24 mevalonate kinase protein-coding MVK mevalonate kinase O LH receptor mRNA-binding protein|mevalonate kinase 1 20141207 9606 4669 NAGLU - MPS-IIIB|MPS3B|NAG|UFHSD MIM:609701|HGNC:HGNC:7632|Ensembl:ENSG00000108784|HPRD:02017|Vega:OTTHUMG00000180240 17 17q21 N-acetylglucosaminidase, alpha protein-coding NAGLU N-acetylglucosaminidase, alpha O N-acetyl-alpha-glucosaminidase|alpha-N-acetylglucosaminidase 20141207 9606 4686 NCBP1 RP11-546O6.1 CBP80|NCBP|Sto1 MIM:600469|HGNC:HGNC:7658|Ensembl:ENSG00000136937|HPRD:02717|Vega:OTTHUMG00000020332 9 9q34.1 nuclear cap binding protein subunit 1, 80kDa protein-coding NCBP1 nuclear cap binding protein subunit 1, 80kDa O 80 kDa nuclear cap-binding protein|NCBP 80 kDa subunit|nuclear cap binding protein subunit 1, 80kD|nuclear cap-binding protein subunit 1 20141207 9606 4736 RPL10A - CSA19|Csa-19|L10A|NEDD6 MIM:615660|HGNC:HGNC:10299|Ensembl:ENSG00000198755|HPRD:10199|Vega:OTTHUMG00000014566 6 6p21.31 ribosomal protein L10a protein-coding RPL10A ribosomal protein L10a O 60S ribosomal protein L10a|NEDD-6|neural precursor cell expressed developmentally down-regulated protein 6 20141207 9606 4758 NEU1 DAAP-222I20.1 NANH|NEU|SIAL1 MIM:608272|HGNC:HGNC:7758|Ensembl:ENSG00000204386|HPRD:09751|Vega:OTTHUMG00000031284 6 6p21.3 sialidase 1 (lysosomal sialidase) protein-coding NEU1 sialidase 1 (lysosomal sialidase) O G9 sialidase|N-acetyl-alpha-neuraminidase 1|acetylneuraminyl hydrolase|exo-alpha-sialidase|lysosomal sialidase|sialidase-1 20141207 9606 4759 NEU2 - SIAL2 MIM:605528|HGNC:HGNC:7759|Ensembl:ENSG00000115488|HPRD:05702|Vega:OTTHUMG00000133274 2 2q37 sialidase 2 (cytosolic sialidase) protein-coding NEU2 sialidase 2 (cytosolic sialidase) O N-acetyl-alpha-neuraminidase 2|cytosolic sialidase|neuraminidase 2|sialidase-2 20141207 9606 4800 NFYA - CBF-A|CBF-B|HAP2|NF-YA MIM:189903|HGNC:HGNC:7804|HPRD:01793 6 6p21.3 nuclear transcription factor Y, alpha protein-coding NFYA nuclear transcription factor Y, alpha O CAAT box DNA-binding protein subunit A|CAAT-box DNA binding protein subunit A|CCAAT-binding transcription factor subunit B|HAP2 CCAAT-binding protein|Transcription factor NF-Y, A subunit|nuclear transcription factor Y subunit A|nuclear transcription factor Y subunit alpha 20141207 9606 4801 NFYB - CBF-A|CBF-B|HAP3|NF-YB MIM:189904|HGNC:HGNC:7805|Ensembl:ENSG00000120837|HPRD:01794|Vega:OTTHUMG00000170176 12 12q22-q23 nuclear transcription factor Y, beta protein-coding NFYB nuclear transcription factor Y, beta O CAAT box DNA-binding protein subunit B|CCAAT-binding transcription factor subunit A|Transcription factor NF-Y, B subunit|nuclear transcription factor Y subunit B|nuclear transcription factor Y subunit beta 20141207 9606 4830 NME1 - AWD|GAAD|NB|NBS|NDKA|NDPK-A|NDPKA|NM23|NM23-H1 MIM:156490|HGNC:HGNC:7849|Ensembl:ENSG00000239672|HPRD:01131|Vega:OTTHUMG00000137474 17 17q21.3 NME/NM23 nucleoside diphosphate kinase 1 protein-coding NME1 NME/NM23 nucleoside diphosphate kinase 1 O NDP kinase A|granzyme A-activated DNase|metastasis inhibition factor nm23|non-metastatic cells 1, protein (NM23A) expressed in|nucleoside diphosphate kinase A|tumor metastatic process-associated protein 20141207 9606 4831 NME2 - NDKB|NDPK-B|NDPKB|NM23-H2|NM23B|PUF MIM:156491|HGNC:HGNC:7850|Ensembl:ENSG00000011052|Ensembl:ENSG00000243678|HPRD:01132|Vega:OTTHUMG00000154062 17 17q21.3 NME/NM23 nucleoside diphosphate kinase 2 protein-coding NME2 NME/NM23 nucleoside diphosphate kinase 2 O HEL-S-155an|NDP kinase B|c-myc purine-binding transcription factor PUF|c-myc transcription factor|epididymis secretory sperm binding protein Li 155an|histidine protein kinase NDKB|non-metastatic cells 2, protein (NM23) expressed in|non-metastatic cells 2, protein (NM23B) expressed in|nucleoside diphosphate kinase B|nucleotide diphosphate kinase B 20141222 9606 4832 NME3 - DR-nm23|NDPK-C|NDPKC|NM23-H3|NM23H3|c371H6.2 MIM:601817|HGNC:HGNC:7851|Ensembl:ENSG00000103024|HPRD:03488|Vega:OTTHUMG00000128635 16 16q13.3 NME/NM23 nucleoside diphosphate kinase 3 protein-coding NME3 NME/NM23 nucleoside diphosphate kinase 3 O NDK 3|NDP kinase 3|NDP kinase C|non-metastatic cells 3, protein expressed in|nucleoside diphosphate kinase 3|nucleoside diphosphate kinase C 20141207 9606 4833 NME4 Z97634.4-011 NDPK-D|NM23H4|nm23-H4 MIM:601818|HGNC:HGNC:7852|Ensembl:ENSG00000103202|HPRD:03489|Vega:OTTHUMG00000047995 16 16p13.3 NME/NM23 nucleoside diphosphate kinase 4 protein-coding NME4 NME/NM23 nucleoside diphosphate kinase 4 O NDK|NDP kinase D|NDP kinase, mitochondrial|NDPKD|non-metastatic cells 4, protein expressed in|nucleoside diphosphate kinase D|nucleoside diphosphate kinase, mitochondrial 20141207 9606 4837 NNMT - - MIM:600008|HGNC:HGNC:7861|Ensembl:ENSG00000166741|HPRD:02478|Vega:OTTHUMG00000168245 11 11q23.1 nicotinamide N-methyltransferase protein-coding NNMT nicotinamide N-methyltransferase O - 20141207 9606 4842 NOS1 - IHPS1|N-NOS|NC-NOS|NOS|bNOS|nNOS MIM:163731|HGNC:HGNC:7872|Ensembl:ENSG00000089250|HPRD:01226|Vega:OTTHUMG00000137376 12 12q24.22 nitric oxide synthase 1 (neuronal) protein-coding NOS1 nitric oxide synthase 1 (neuronal) O NOS type I|constitutive NOS|neuronal NOS|nitric oxide synthase, brain|peptidyl-cysteine S-nitrosylase NOS1 20141207 9606 4843 NOS2 - HEP-NOS|INOS|NOS|NOS2A MIM:163730|HGNC:HGNC:7873|Ensembl:ENSG00000007171|HPRD:01225|Vega:OTTHUMG00000132445 17 17q11.2 nitric oxide synthase 2, inducible protein-coding NOS2 nitric oxide synthase 2, inducible O NOS type II|NOS, type II|hepatocyte NOS|inducible NO synthase|inducible NOS|nitric oxide synthase 2A (inducible, hepatocytes)|nitric oxide synthase, inducible|nitric oxide synthase, macrophage|peptidyl-cysteine S-nitrosylase NOS2 20141222 9606 4846 NOS3 - ECNOS|eNOS MIM:163729|HGNC:HGNC:7876|Ensembl:ENSG00000164867|HPRD:01224|Vega:OTTHUMG00000158343 7 7q36 nitric oxide synthase 3 (endothelial cell) protein-coding NOS3 nitric oxide synthase 3 (endothelial cell) O EC-NOS|NOS type III|NOSIII|cNOS|constitutive NOS|endothelial NOS|nitric oxide synthase 3 transcript variant eNOS-delta20|nitric oxide synthase 3 transcript variant eNOS-delta20-21|nitric oxide synthase 3 transcript variant eNOS-delta21|nitric oxide synthase, endothelial 20141222 9606 4848 CNOT2 HSPC131 CDC36|NOT2|NOT2H MIM:604909|HGNC:HGNC:7878|Ensembl:ENSG00000111596|HPRD:05367|Vega:OTTHUMG00000169481 12 12q15 CCR4-NOT transcription complex, subunit 2 protein-coding CNOT2 CCR4-NOT transcription complex, subunit 2 O CCR4-NOT transcription complex subunit 2|CCR4-associated factor 2|negative regulator of transcription 2 20141207 9606 4849 CNOT3 XXbac-BCX105G6.1 LENG2|NOT3|NOT3H MIM:604910|HGNC:HGNC:7879|Ensembl:ENSG00000088038|HPRD:05368|Vega:OTTHUMG00000066468 19 19q13.4 CCR4-NOT transcription complex, subunit 3 protein-coding CNOT3 CCR4-NOT transcription complex, subunit 3 O CCR4-NOT transcription complex subunit 3|CCR4-associated factor 3|NOT3 (negative regulator of transcription 3, yeast) homolog|leukocyte receptor cluster member 2 20141207 9606 4850 CNOT4 - CLONE243|NOT4|NOT4H MIM:604911|HGNC:HGNC:7880|Ensembl:ENSG00000080802|HPRD:05369|Vega:OTTHUMG00000155568 7 7q33 CCR4-NOT transcription complex, subunit 4 protein-coding CNOT4 CCR4-NOT transcription complex, subunit 4 O CCR4-NOT transcription complex subunit 4|CCR4-associated factor 4|E3 ubiquitin-protein ligase CNOT4|NOT4 (negative regulator of transcription 4, yeast) homolog|potential transcriptional repressor NOT4Hp 20141207 9606 4860 PNP - NP|PRO1837|PUNP MIM:164050|HGNC:HGNC:7892|HPRD:01247 14 14q13.1 purine nucleoside phosphorylase protein-coding PNP purine nucleoside phosphorylase O HEL-S-156an|epididymis secretory sperm binding protein Li 156an|inosine phosphorylase|inosine-guanosine phosphorylase|purine-nucleoside:orthophosphate ribosyltransferase 20141221 9606 4862 NPAS2 - MOP4|PASD4|bHLHe9 MIM:603347|HGNC:HGNC:7895|Ensembl:ENSG00000170485|HPRD:09137|Vega:OTTHUMG00000130675 2 2q11.2 neuronal PAS domain protein 2 protein-coding NPAS2 neuronal PAS domain protein 2 O PAS domain-containing protein 4|basic-helix-loop-helix-PAS protein MOP4|class E basic helix-loop-helix protein 9|member of PAS protein 4|member of PAS superfamily 4|neuronal PAS domain-containing protein 2|neuronal PAS2 20141207 9606 4881 NPR1 RP11-354A16.3 ANPRA|ANPa|GUC2A|GUCY2A|NPRA MIM:108960|HGNC:HGNC:7943|Ensembl:ENSG00000169418|HPRD:00165|Vega:OTTHUMG00000037085 1 1q21-q22 natriuretic peptide receptor 1 protein-coding NPR1 natriuretic peptide receptor 1 O ANP-A|ANPR-A|GC-A|NPR-A|atrial natriuretic peptide receptor 1|atrial natriuretic peptide receptor type A|atrionatriuretic peptide receptor A|guanylate cyclase A|natriuretic peptide A type receptor|natriuretic peptide receptor A|natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 20141207 9606 4882 NPR2 - AMDM|ANPRB|ANPb|ECDM|GUC2B|GUCY2B|NPRB|NPRBi MIM:108961|HGNC:HGNC:7944|Ensembl:ENSG00000159899|HPRD:00166|Vega:OTTHUMG00000019871 9 9p21-p12 natriuretic peptide receptor 2 protein-coding NPR2 natriuretic peptide receptor 2 O ANP-B|ANPR-B|GC-B|NPR-B|atrial natriuretic peptide B-type receptor|atrial natriuretic peptide receptor 2|atrial natriuretic peptide receptor type B|guanylate cyclase B|natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 20141207 9606 4899 NRF1 - ALPHA-PAL MIM:600879|HGNC:HGNC:7996|Ensembl:ENSG00000106459|HPRD:02930|Vega:OTTHUMG00000143736 7 7q32 nuclear respiratory factor 1 protein-coding NRF1 nuclear respiratory factor 1 O alpha palindromic-binding protein 20141207 9606 4907 NT5E RP11-321N4.1 CALJA|CD73|E5NT|NT|NT5|NTE|eN|eNT MIM:129190|HGNC:HGNC:8021|Ensembl:ENSG00000135318|HPRD:00552|Vega:OTTHUMG00000015139 6 6q14-q21 5'-nucleotidase, ecto (CD73) protein-coding NT5E 5'-nucleotidase, ecto (CD73) O 5'-NT|5'-nucleotidase|Purine 5-Prime-Nucleotidase|ecto-5'-nucleotidase 20141222 9606 4927 NUP88 - - MIM:602552|HGNC:HGNC:8067|Ensembl:ENSG00000108559|HPRD:03974|Vega:OTTHUMG00000099453 17 17p13.2 nucleoporin 88kDa protein-coding NUP88 nucleoporin 88kDa O 88 kDa nucleoporin|karyoporin|nuclear pore complex protein 88|nuclear pore complex protein Nup88|nucleoporin 88kD|nucleoporin Nup88 20141207 9606 4942 OAT - GACR|HOGA|OATASE|OKT MIM:613349|HGNC:HGNC:8091|Ensembl:ENSG00000065154|HPRD:02021|Vega:OTTHUMG00000019213 10 10q26 ornithine aminotransferase protein-coding OAT ornithine aminotransferase O gyrate atrophy|ornithine aminotransferase, mitochondrial|ornithine delta-aminotransferase|ornithine-oxo-acid aminotransferase 20141207 9606 4946 OAZ1 - AZI|OAZ MIM:601579|HGNC:HGNC:8095|Ensembl:ENSG00000104904|HPRD:03346|Vega:OTTHUMG00000178459 19 19p13.3 ornithine decarboxylase antizyme 1 protein-coding OAZ1 ornithine decarboxylase antizyme 1 O ODC-Az|antizyme 1 20141216 9606 4947 OAZ2 - AZ2 MIM:604152|HGNC:HGNC:8096|Ensembl:ENSG00000180304|HPRD:11966|Vega:OTTHUMG00000172473 15 15q22.31 ornithine decarboxylase antizyme 2 protein-coding OAZ2 ornithine decarboxylase antizyme 2 O ODC-Az 2 20141216 9606 4952 OCRL RP3-454M7.1 INPP5F|LOCR|NPHL2|OCRL-1|OCRL1 MIM:300535|HGNC:HGNC:8108|Ensembl:ENSG00000122126|HPRD:02395|Vega:OTTHUMG00000022706 X Xq25 oculocerebrorenal syndrome of Lowe protein-coding OCRL oculocerebrorenal syndrome of Lowe O Lowe oculocerebrorenal syndrome protein|inositol polyphosphate 5-phosphatase OCRL-1|phosphatidylinositol polyphosphate 5-phosphatase 20141219 9606 4953 ODC1 - ODC MIM:165640|HGNC:HGNC:8109|Ensembl:ENSG00000115758|HPRD:01324|Vega:OTTHUMG00000090450 2 2p25 ornithine decarboxylase 1 protein-coding ODC1 ornithine decarboxylase 1 O ornithine decarboxylase 20141207 9606 4958 OMD UNQ190/PRO216 OSAD|SLRR2C HGNC:HGNC:8134|Ensembl:ENSG00000127083|HPRD:10128|Vega:OTTHUMG00000020225 9 9q22.31 osteomodulin protein-coding OMD osteomodulin O KSPG osteomodulin|keratan sulfate proteoglycan osteomodulin|osteoadherin proteoglycan 20141207 9606 4967 OGDH - AKGDH|E1k|OGDC MIM:613022|HGNC:HGNC:8124|Ensembl:ENSG00000105953|HPRD:08938|Vega:OTTHUMG00000155304 7 7p14-p13 oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) protein-coding OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) O 2-oxoglutarate dehydrogenase complex component E1|2-oxoglutarate dehydrogenase, mitochondrial|OGDC-E1|oxoglutarate decarboxylase|oxoglutarate dehydrogenase (succinyl-transferring) 20141207 9606 4969 OGN - OG|OIF|SLRR3A MIM:602383|HGNC:HGNC:8126|Ensembl:ENSG00000106809|HPRD:03856|Vega:OTTHUMG00000020224 9 9q22 osteoglycin protein-coding OGN osteoglycin O corneal keratan sulfate proteoglycan|mimecan|mimecan proteoglycan|osteoinductive factor 20141217 9606 5007 OSBP - OSBP1 MIM:167040|HGNC:HGNC:8503|Ensembl:ENSG00000110048|HPRD:01327|Vega:OTTHUMG00000167422 11 11q12-q13 oxysterol binding protein protein-coding OSBP oxysterol binding protein O oxysterol-binding protein 1 20141207 9606 5009 OTC - OCTD MIM:300461|HGNC:HGNC:8512|Ensembl:ENSG00000036473|HPRD:02408|HPRD:08947|Vega:OTTHUMG00000022727 X Xp21.1 ornithine carbamoyltransferase protein-coding OTC ornithine carbamoyltransferase O OTCase|ornithine carbamoyltransferase, mitochondrial|ornithine transcarbamylase 20141219 9606 5019 OXCT1 - OXCT|SCOT MIM:601424|HGNC:HGNC:8527|Ensembl:ENSG00000083720|HPRD:02001|Vega:OTTHUMG00000094783 5 5p13.1 3-oxoacid CoA transferase 1 protein-coding OXCT1 3-oxoacid CoA transferase 1 O 3-oxoacid CoA-transferase 1|3-oxoacid-CoA transferase 1|SCOT-s|somatic-type succinyl CoA:3-oxoacid CoA-transferase|somatic-type succinyl-CoA:3-oxoacid CoA-transferase|somatic-type succinyl-CoA:3-oxoacid-CoA-transferase|succinyl CoA:3-oxoacid CoA transferase|succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial|succinyl-CoA:3-ketoacid-CoA transferase|succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial 20141207 9606 5033 P4HA1 RP11-344N10.1 P4HA MIM:176710|HGNC:HGNC:8546|Ensembl:ENSG00000122884|HPRD:08901|Vega:OTTHUMG00000018449 10 10q21.3-q23.1 prolyl 4-hydroxylase, alpha polypeptide I protein-coding P4HA1 prolyl 4-hydroxylase, alpha polypeptide I O C-P4Halpha(I)|collagen prolyl 4-hydroxylase alpha(I)|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I|procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1|prolyl 4-hydroxylase subunit alpha-1 20141207 9606 5034 P4HB - DSI|ERBA2L|GIT|P4Hbeta|PDI|PDIA1|PHDB|PO4DB|PO4HB|PROHB MIM:176790|HGNC:HGNC:8548|Ensembl:ENSG00000185624|HPRD:07181|Vega:OTTHUMG00000150269 17 17q25 prolyl 4-hydroxylase, beta polypeptide protein-coding P4HB prolyl 4-hydroxylase, beta polypeptide O cellular thyroid hormone-binding protein|collagen prolyl 4-hydroxylase beta|glutathione-insulin transhydrogenase|p55|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide|prolyl 4-hydroxylase subunit beta|protein disulfide isomerase family A, member 1|protein disulfide isomerase-associated 1|protein disulfide isomerase/oxidoreductase|protein disulfide-isomerase|protocollagen hydroxylase|thyroid hormone-binding protein p55 20141207 9606 5045 FURIN - FUR|PACE|PCSK3|SPC1 MIM:136950|HGNC:HGNC:8568|Ensembl:ENSG00000140564|HPRD:00653|Vega:OTTHUMG00000149831 15 15q26.1 furin (paired basic amino acid cleaving enzyme) protein-coding FURIN furin (paired basic amino acid cleaving enzyme) O FES upstream region|dibasic processing enzyme|furin|furin, membrane associated receptor protein|paired basic amino acid residue-cleaving enzyme|proprotein convertase subtilisin/kexin type 3 20141207 9606 5048 PAFAH1B1 - LIS1|LIS2|MDCR|MDS|PAFAH MIM:601545|HGNC:HGNC:8574|Ensembl:ENSG00000007168|HPRD:03329|Vega:OTTHUMG00000177574 17 17p13.3 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) protein-coding PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) O lissencephaly 1 protein|platelet-activating factor acetylhydrolase IB subunit alpha|platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)|platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa) 20141219 9606 5049 PAFAH1B2 - HEL-S-303 MIM:602508|HGNC:HGNC:8575|Ensembl:ENSG00000168092|HPRD:03940|Vega:OTTHUMG00000167064 11 11q23 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) protein-coding PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) O PAF acetylhydrolase 30 kDa subunit|PAF-AH 30 kDa subunit|PAF-AH subunit beta|PAF-AH1b alpha 2 subunit|PAFAH subunit beta|epididymis secretory protein Li 303|intracellular platelet-activating factor acetylhydrolase alpha 2 subunit|platelet-activating factor acetylhydrolase IB subunit beta|platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa) 20141207 9606 5050 PAFAH1B3 - PAFAHG MIM:603074|HGNC:HGNC:8576|Ensembl:ENSG00000079462|HPRD:04354|Vega:OTTHUMG00000182795 19 19q13.1 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) protein-coding PAFAH1B3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) O PAF acetylhydrolase 29 kDa subunit|PAF-AH 29 kDa subunit|PAF-AH subunit gamma|PAF-AH1b alpha 1 subunit|PAFAH subunit gamma|platelet-activating factor acetylhydrolase IB subunit gamma|platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa) 20141207 9606 5051 PAFAH2 RP11-111D20.1 HSD-PLA2 MIM:602344|HGNC:HGNC:8579|Ensembl:ENSG00000158006|HPRD:03824|Vega:OTTHUMG00000007437 1 1p36 platelet-activating factor acetylhydrolase 2, 40kDa protein-coding PAFAH2 platelet-activating factor acetylhydrolase 2, 40kDa O SD-PLA2|platelet-activating factor acetylhydrolase 2, cytoplasmic|serine-dependent phospholipase A2 20141207 9606 5053 PAH - PH|PKU|PKU1 MIM:612349|HGNC:HGNC:8582|Ensembl:ENSG00000171759|HPRD:08943|Vega:OTTHUMG00000169966 12 12q22-q24.2 phenylalanine hydroxylase protein-coding PAH phenylalanine hydroxylase O phe-4-monooxygenase|phenylalanine 4-monooxygenase|phenylalanine-4-hydroxylase 20141219 9606 5073 PARN - DAN MIM:604212|HGNC:HGNC:8609|Ensembl:ENSG00000140694|HPRD:07250|Vega:OTTHUMG00000173199 16 16p13 poly(A)-specific ribonuclease protein-coding PARN poly(A)-specific ribonuclease O deadenylating nuclease|deadenylation nuclease|poly(A)-specific ribonuclease (deadenylation nuclease)|poly(A)-specific ribonuclease PARN|polyadenylate-specific ribonuclease 20141207 9606 5080 PAX6 - AN|AN2|D11S812E|FVH1|MGDA|WAGR MIM:607108|HGNC:HGNC:8620|Ensembl:ENSG00000007372|HPRD:06167|Vega:OTTHUMG00000041447 11 11p13 paired box 6 protein-coding PAX6 paired box 6 O aniridia type II protein|oculorhombin|paired box homeotic gene-6|paired box protein Pax-6 20141222 9606 5091 PC - PCB MIM:608786|HGNC:HGNC:8636|Ensembl:ENSG00000173599|HPRD:02032|Vega:OTTHUMG00000167099 11 11q13.4-q13.5 pyruvate carboxylase protein-coding PC pyruvate carboxylase O pyruvate carboxylase, mitochondrial|pyruvic carboxylase 20141219 9606 5092 PCBD1 - DCOH|PCBD|PCD|PHS MIM:126090|HGNC:HGNC:8646|Ensembl:ENSG00000166228|HPRD:00523|Vega:OTTHUMG00000018417 10 10q22 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha protein-coding PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha O 4-alpha-hydroxy-tetrahydropterin dehydratase|6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)|dimerizing cofactor for HNF1|phenylalanine hydroxylase-stimulating protein|pterin-4-alpha-carbinolamine dehydratase 20141207 9606 5095 PCCA RP11-151A6.1 - MIM:232000|HGNC:HGNC:8653|Ensembl:ENSG00000175198|HPRD:01981|Vega:OTTHUMG00000017284 13 13q32 propionyl CoA carboxylase, alpha polypeptide protein-coding PCCA propionyl CoA carboxylase, alpha polypeptide O PCCase alpha subunit|pccA complementation group|propanoyl-CoA:carbon dioxide ligase alpha subunit|propionyl Coenzyme A carboxylase, alpha polypeptide|propionyl-CoA carboxylase alpha chain, mitochondrial 20141219 9606 5096 PCCB - - MIM:232050|HGNC:HGNC:8654|Ensembl:ENSG00000114054|HPRD:01982|Vega:OTTHUMG00000159792 3 3q21-q22 propionyl CoA carboxylase, beta polypeptide protein-coding PCCB propionyl CoA carboxylase, beta polypeptide O PCCase subunit beta|propanoyl-CoA:carbon dioxide ligase subunit beta|propionyl Coenzyme A carboxylase, beta polypeptide|propionyl-CoA carboxylase beta chain, mitochondrial 20141219 9606 5105 PCK1 - PEPCK-C|PEPCK1|PEPCKC MIM:614168|HGNC:HGNC:8724|HPRD:02028 20 20q13.31 phosphoenolpyruvate carboxykinase 1 (soluble) protein-coding PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) O PEP carboxykinase|phosphoenolpyruvate carboxykinase, cytosolic|phosphoenolpyruvate carboxykinase, cytosolic [GTP]|phosphoenolpyruvate carboxylase|phosphopyruvate carboxylase 20141207 9606 5106 PCK2 - PEPCK|PEPCK-M|PEPCK2 MIM:614095|HGNC:HGNC:8725|Ensembl:ENSG00000100889|HPRD:02026|Vega:OTTHUMG00000028791 14 14q11.2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) protein-coding PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) O PEP carboxykinase|phosphoenolpyruvate carboxykinase [GTP], mitochondrial|phosphopyruvate carboxylase 20141207 9606 5122 PCSK1 - BMIQ12|NEC1|PC1|PC3|SPC3 MIM:162150|HGNC:HGNC:8743|Ensembl:ENSG00000175426|HPRD:01201|Vega:OTTHUMG00000122089 5 5q15-q21 proprotein convertase subtilisin/kexin type 1 protein-coding PCSK1 proprotein convertase subtilisin/kexin type 1 O neuroendocrine convertase 1|prohormone convertase 1|prohormone convertase 3 20141207 9606 5130 PCYT1A - CCTA|CT|CTA|CTPCT|PCYT1|SMDCRD MIM:123695|HGNC:HGNC:8754|HPRD:00438 3 3q29 phosphate cytidylyltransferase 1, choline, alpha protein-coding PCYT1A phosphate cytidylyltransferase 1, choline, alpha O CCT A|CCT-alpha|CT A|CTP:phosphocholine cytidylyltransferase A|choline-phosphate cytidylyltransferase A|phosphorylcholine transferase A 20141207 9606 5136 PDE1A - CAM-PDE-1A|HCAM-1|HCAM1|HSPDE1A MIM:171890|HGNC:HGNC:8774|Ensembl:ENSG00000115252|HPRD:01387|Vega:OTTHUMG00000132596 2 2q32.1 phosphodiesterase 1A, calmodulin-dependent protein-coding PDE1A phosphodiesterase 1A, calmodulin-dependent O 61 kDa Cam-PDE|calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A|calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase|cam-PDE 1A 20141207 9606 5137 PDE1C - Hcam3|cam-PDE 1C|hCam-3 MIM:602987|HGNC:HGNC:8776|Ensembl:ENSG00000154678|HPRD:04287|Vega:OTTHUMG00000023836 7 7p14.3 phosphodiesterase 1C, calmodulin-dependent 70kDa protein-coding PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa O Human 3',5' cyclic nucleotide phosphodiesterase (HSPDE1C1A)|calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C 20141207 9606 5138 PDE2A - CGS-PDE|PDE2A1|PED2A4|cGSPDE MIM:602658|HGNC:HGNC:8777|Ensembl:ENSG00000186642|HPRD:04041|Vega:OTTHUMG00000102045 11 11q13.4 phosphodiesterase 2A, cGMP-stimulated protein-coding PDE2A phosphodiesterase 2A, cGMP-stimulated O cGMP-dependent 3',5'-cyclic phosphodiesterase|cGMP-stimulated phosphodiesterase 1|cGMP-stimulated phosphodiesterase 4|cyclic GMP-stimulated phosphodiesterase 20141207 9606 5139 PDE3A - CGI-PDE|CGI-PDE A|CGI-PDE-A MIM:123805|HGNC:HGNC:8778|Ensembl:ENSG00000172572|HPRD:00441|Vega:OTTHUMG00000168962 12 12p12 phosphodiesterase 3A, cGMP-inhibited protein-coding PDE3A phosphodiesterase 3A, cGMP-inhibited O cAMP phosphodiesterase, myocardial cGMP-inhibited|cGMP-inhibited 3',5'-cyclic phosphodiesterase A|cyclic GMP-inhibited phosphodiesterase A 20141207 9606 5140 PDE3B - HcGIP1|cGIPDE1 MIM:602047|HGNC:HGNC:8779|Ensembl:ENSG00000152270|HPRD:03626|Vega:OTTHUMG00000165898 11 11p15.1 phosphodiesterase 3B, cGMP-inhibited protein-coding PDE3B phosphodiesterase 3B, cGMP-inhibited O CGI-PDE B|CGIP1|cGMP-inhibited 3',5'-cyclic phosphodiesterase B|cyclic GMP-inhibited phosphodiesterase B|cyclic nucleotide phosphodiesterase 20141207 9606 5141 PDE4A - DPDE2|PDE4|PDE46 MIM:600126|HGNC:HGNC:8780|Ensembl:ENSG00000065989|HPRD:02527|Vega:OTTHUMG00000180411 19 19p13.2 phosphodiesterase 4A, cAMP-specific protein-coding PDE4A phosphodiesterase 4A, cAMP-specific O cAMP-specific 3',5'-cyclic phosphodiesterase 4A|phosphodiesterase 4A, cAMP-specific (dunce|phosphodiesterase E2 dunce homolog, Drosophila|phosphodiesterase isozyme 4 20141207 9606 5142 PDE4B RP5-876C12.1 DPDE4|PDEIVB MIM:600127|HGNC:HGNC:8781|Ensembl:ENSG00000184588|HPRD:02528|Vega:OTTHUMG00000009088 1 1p31 phosphodiesterase 4B, cAMP-specific protein-coding PDE4B phosphodiesterase 4B, cAMP-specific O cAMP-specific 3',5'-cyclic phosphodiesterase 4B|dunce-like phosphodiesterase E4|phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila) 20141207 9606 5143 PDE4C - DPDE1 MIM:600128|HGNC:HGNC:8782|Ensembl:ENSG00000105650|HPRD:02529|Vega:OTTHUMG00000183353 19 19p13.11 phosphodiesterase 4C, cAMP-specific protein-coding PDE4C phosphodiesterase 4C, cAMP-specific O PDE21|cAMP-specific 3',5'-cyclic phosphodiesterase 4C|phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila)|phosphodiesterase E1 dunce homolog 20141207 9606 5144 PDE4D - ACRDYS2|DPDE3|HSPDE4D|PDE43|PDE4DN2|STRK1 MIM:600129|HGNC:HGNC:8783|Ensembl:ENSG00000113448|HPRD:02530|Vega:OTTHUMG00000162218 5 5q12 phosphodiesterase 4D, cAMP-specific protein-coding PDE4D phosphodiesterase 4D, cAMP-specific O cAMP-specific 3',5'-cyclic phosphodiesterase 4D|cAMP-specific phosphodiesterase PDE4D6|phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila) 20141207 9606 5145 PDE6A - CGPR-A|PDEA|RP43 MIM:180071|HGNC:HGNC:8785|Ensembl:ENSG00000132915|HPRD:01570|Vega:OTTHUMG00000130047 5 5q31.2-q34 phosphodiesterase 6A, cGMP-specific, rod, alpha protein-coding PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha O GMP-PDE alpha|PDE V-B1|cGMP phosphodiesterase alpha subunit|rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha|rod photoreceptor cGMP phosphodiesterase alpha subunit 20141219 9606 5146 PDE6C - ACHM5|COD4|PDEA2 MIM:600827|HGNC:HGNC:8787|Ensembl:ENSG00000095464|HPRD:02898|Vega:OTTHUMG00000018775 10 10q24 phosphodiesterase 6C, cGMP-specific, cone, alpha prime protein-coding PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime O cGMP phosphodiesterase 6C|cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' 20141219 9606 5147 PDE6D - JBTS22|PDED MIM:602676|HGNC:HGNC:8788|Ensembl:ENSG00000156973|HPRD:04056|Vega:OTTHUMG00000153785 2 2q35-q36 phosphodiesterase 6D, cGMP-specific, rod, delta protein-coding PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta O GMP-PDE delta|protein p17|retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta 20141207 9606 5148 PDE6G - PDEG|RP57 MIM:180073|HGNC:HGNC:8789|Ensembl:ENSG00000185527|HPRD:08914|Vega:OTTHUMG00000178038 17 17q25 phosphodiesterase 6G, cGMP-specific, rod, gamma protein-coding PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma O GMP-PDE gamma|retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma|rod cG-PDE G 20141219 9606 5149 PDE6H - ACHM6|RCD3 MIM:601190|HGNC:HGNC:8790|Ensembl:ENSG00000139053|HPRD:03116|Vega:OTTHUMG00000168743 12 12p13 phosphodiesterase 6H, cGMP-specific, cone, gamma protein-coding PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma O GMP-PDE gamma|retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma 20141219 9606 5150 PDE7A RP11-707M3.3 HCP1|PDE7 MIM:171885|HGNC:HGNC:8791|HPRD:01386 8 8q13 phosphodiesterase 7A protein-coding PDE7A phosphodiesterase 7A O TM22|high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A|phosphodiesterase isozyme 7 20141207 9606 5151 PDE8A - HsT19550 MIM:602972|HGNC:HGNC:8793|Ensembl:ENSG00000073417|HPRD:09114|Vega:OTTHUMG00000148670 15 15q25.3 phosphodiesterase 8A protein-coding PDE8A phosphodiesterase 8A O cAMP-specific cyclic nucleotide phosphodiesterase 8A|high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A 20141207 9606 5152 PDE9A - HSPDE9A2 MIM:602973|HGNC:HGNC:8795|Ensembl:ENSG00000160191|HPRD:09115|Vega:OTTHUMG00000086825 21 21q22.3 phosphodiesterase 9A protein-coding PDE9A phosphodiesterase 9A O CGMP-specific 3',5'-cyclic phosphodiesterase type 9|high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A|phosphodiesterase PDE9A21 20141207 9606 5153 PDE1B - PDE1B1|PDES1B MIM:171891|HGNC:HGNC:8775|Ensembl:ENSG00000123360|HPRD:01388|Vega:OTTHUMG00000169844 12 12q13 phosphodiesterase 1B, calmodulin-dependent protein-coding PDE1B phosphodiesterase 1B, calmodulin-dependent O 63 kDa Cam-PDE|calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B|calcium/calmodulin-stimulated cyclic nucleotide phosphodiesterase|calmodulin-stimulated phosphodiesterase PDE1B1|cam-PDE 1B|presumed 63kDa form of the type 1 cyclic nucleotide phosphodiesterase family known as PDE1B 20141207 9606 5158 PDE6B - CSNB3|CSNBAD2|PDEB|RP40|rd1 MIM:180072|HGNC:HGNC:8786|Ensembl:ENSG00000133256|HPRD:01571|Vega:OTTHUMG00000159909 4 4p16.3 phosphodiesterase 6B, cGMP-specific, rod, beta protein-coding PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta O GMP-PDE beta|rod cGMP-phosphodiesterase beta-subunit|rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 20141219 9606 5160 PDHA1 RP11-723P2.1 PDHA|PDHAD|PDHCE1A|PHE1A MIM:300502|HGNC:HGNC:8806|Ensembl:ENSG00000131828|HPRD:02420|Vega:OTTHUMG00000021224 X Xp22.1 pyruvate dehydrogenase (lipoamide) alpha 1 protein-coding PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 O PDHE1-A type I|pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial|pyruvate dehydrogenase complex, E1-alpha polypeptide 1 20141207 9606 5161 PDHA2 hCG_1643458 PDHAL MIM:179061|HGNC:HGNC:8807|Ensembl:ENSG00000163114|HPRD:01531|Vega:OTTHUMG00000130990 4 4q22-q23 pyruvate dehydrogenase (lipoamide) alpha 2 protein-coding PDHA2 pyruvate dehydrogenase (lipoamide) alpha 2 O PDHE1-A type II|pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial|pyruvate dehydrogenase, E1-alpha polypeptide, testis specific 20141207 9606 5162 PDHB - PDHBD|PDHE1-B|PHE1B MIM:179060|HGNC:HGNC:8808|Ensembl:ENSG00000168291|HPRD:01530|Vega:OTTHUMG00000159157 3 3p21.1-p14.2 pyruvate dehydrogenase (lipoamide) beta protein-coding PDHB pyruvate dehydrogenase (lipoamide) beta O pyruvate dehydrogenase E1 component subunit beta, mitochondrial|pyruvate dehydrogenase, E1 beta polypeptide 20141207 9606 5163 PDK1 - - MIM:602524|HGNC:HGNC:8809|HPRD:03954 2 2q31.1 pyruvate dehydrogenase kinase, isozyme 1 protein-coding PDK1 pyruvate dehydrogenase kinase, isozyme 1 O PDH kinase 1|[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial|mitochondrial pyruvate dehydrogenase, lipoamide, kinase isoenzyme 1|pyruvate dehydrogenase kinase, isoenzyme 1 20141222 9606 5164 PDK2 - PDHK2|PDKII MIM:602525|HGNC:HGNC:8810|Ensembl:ENSG00000005882|HPRD:03955|Vega:OTTHUMG00000161948 17 17q21.33 pyruvate dehydrogenase kinase, isozyme 2 protein-coding PDK2 pyruvate dehydrogenase kinase, isozyme 2 O PDH kinase 2|[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial|pyruvate dehydrogenase kinase, isoenzyme 2|pyruvate dehydrogenase, lipoamide, kinase isozyme 2, mitochondrial 20141207 9606 5165 PDK3 - CMTX6|GS1-358P8.4 MIM:300906|HGNC:HGNC:8811|Ensembl:ENSG00000067992|HPRD:03956|Vega:OTTHUMG00000021269 X Xp22.11 pyruvate dehydrogenase kinase, isozyme 3 protein-coding PDK3 pyruvate dehydrogenase kinase, isozyme 3 O [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial|pyruvate dehydrogenase kinase, isoenzyme 3|pyruvate dehydrogenase, lipoamide, kinase isozyme 3, mitochondrial 20141207 9606 5166 PDK4 - - MIM:602527|HGNC:HGNC:8812|Ensembl:ENSG00000004799|HPRD:03957|Vega:OTTHUMG00000153977 7 7q21.3 pyruvate dehydrogenase kinase, isozyme 4 protein-coding PDK4 pyruvate dehydrogenase kinase, isozyme 4 O [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial|[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 4, mitochondrial|pyruvate dehydrogenase kinase, isoenzyme 4|pyruvate dehydrogenase, lipoamide, kinase isozyme 4, mitochondrial 20141207 9606 5167 ENPP1 - ARHR2|COLED|M6S1|NPP1|NPPS|PC-1|PCA1|PDNP1 MIM:173335|HGNC:HGNC:3356|Ensembl:ENSG00000197594|HPRD:01415|Vega:OTTHUMG00000015572 6 6q22-q23 ectonucleotide pyrophosphatase/phosphodiesterase 1 protein-coding ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 O E-NPP 1|Ly-41 antigen|alkaline phosphodiesterase 1|ectonucleotide pyrophosphatase/phosphodiesterase family member 1|membrane component chromosome 6 surface marker 1|membrane component, chromosome 6, surface marker 1|phosphodiesterase I/nucleotide pyrophosphatase 1|plasma-cell membrane glycoprotein 1|plasma-cell membrane glycoprotein PC-1 20141222 9606 5168 ENPP2 - ATX|ATX-X|AUTOTAXIN|LysoPLD|NPP2|PD-IALPHA|PDNP2 MIM:601060|HGNC:HGNC:3357|Ensembl:ENSG00000136960|HPRD:03037|Vega:OTTHUMG00000164995 8 8q24.1 ectonucleotide pyrophosphatase/phosphodiesterase 2 protein-coding ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 O E-NPP 2|autotaxin-t|ectonucleotide pyrophosphatase/phosphodiesterase family member 2|extracellular lysophospholipase D|phosphodiesterase I/nucleotide pyrophosphatase 2|plasma lysophospholipase D 20141222 9606 5169 ENPP3 RP5-988G15.3 B10|CD203c|NPP3|PD-IBETA|PDNP3 MIM:602182|HGNC:HGNC:3358|Ensembl:ENSG00000154269|HPRD:03715|Vega:OTTHUMG00000016292 6 6q22 ectonucleotide pyrophosphatase/phosphodiesterase 3 protein-coding ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 O dJ1005H11.3 (phosphodiesterase I/nucleotide pyrophosphatase 3)|dJ914N13.3 (phosphodiesterase I/nucleotide pyrophosphatase 3)|ectonucleotide pyrophosphatase/phosphodiesterase family member 3|gp130RB13-6|phosphodiesterase I/nucleotide pyrophosphatase 3|phosphodiesterase-I beta 20141222 9606 5198 PFAS - FGAMS|FGAR-AT|FGARAT|PURL MIM:602133|HGNC:HGNC:8863|Ensembl:ENSG00000178921|HPRD:09072|Vega:OTTHUMG00000108188 17 17p13.1 phosphoribosylformylglycinamidine synthase protein-coding PFAS phosphoribosylformylglycinamidine synthase O FGAM synthase|FGAR amidotransferase|formylglycinamide ribonucleotide amidotransferase|formylglycinamide ribotide amidotransferase|formylglycinamide ribotide synthetase 20141207 9606 5201 PFDN1 - PDF|PFD1 MIM:604897|HGNC:HGNC:8866|Ensembl:ENSG00000113068|HPRD:05357|Vega:OTTHUMG00000129249 5 5q31 prefoldin subunit 1 protein-coding PFDN1 prefoldin subunit 1 O prefoldin 1 20141207 9606 5202 PFDN2 HSPC231 PFD2 MIM:613466|HGNC:HGNC:8867|Ensembl:ENSG00000143256|HPRD:09658|Vega:OTTHUMG00000031481 1 1q23.3 prefoldin subunit 2 protein-coding PFDN2 prefoldin subunit 2 O prefoldin 2 20141207 9606 5203 PFDN4 - C1|PFD4 MIM:604898|HGNC:HGNC:8868|Ensembl:ENSG00000101132|HPRD:05358|Vega:OTTHUMG00000032775 20 20q13.2 prefoldin subunit 4 protein-coding PFDN4 prefoldin subunit 4 O prefoldin 4|protein C-1 20141207 9606 5204 PFDN5 - MM-1|MM1|PFD5 MIM:604899|HGNC:HGNC:8869|Ensembl:ENSG00000123349|Vega:OTTHUMG00000169675 12 12q12 prefoldin subunit 5 protein-coding PFDN5 prefoldin subunit 5 O c-myc binding protein|myc modulator-1 20141207 9606 5207 PFKFB1 - F6PK|HL2K|PFRX MIM:311790|HGNC:HGNC:8872|Ensembl:ENSG00000158571|HPRD:02411|Vega:OTTHUMG00000021643 X Xp11.21 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 protein-coding PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 O 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1|6PF-2-K/Fru-2,6-P2ASE liver isozyme|6PF-2-K/Fru-2,6-P2ase 1|PFK/FBPase 1|fructose-6-phosphate,2-kinase:fructose-2,6-bisphosphatase 20141207 9606 5208 PFKFB2 RP11-164O23.2 PFK-2/FBPase-2 MIM:171835|HGNC:HGNC:8873|Ensembl:ENSG00000123836|HPRD:01383|Vega:OTTHUMG00000036033 1 1q31 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 protein-coding PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 O 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2|6PF-2-K/Fru-2,6-P2ASE heart-type isozyme|6PF-2-K/Fru-2,6-P2ase 2|PFK/FBPase 2|PFKFB, cardiac|fructose-2,6-bisphosphatase, cardiac isozyme 20141207 9606 5209 PFKFB3 RP11-298K24.3 IPFK2|PFK2 MIM:605319|HGNC:HGNC:8874|Ensembl:ENSG00000170525|HPRD:05612|Vega:OTTHUMG00000017621 10 10p15.1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 protein-coding PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 O 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase|6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase|6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3|6PF-2-K/Fru-2,6-P2ase 3|6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme|PFK/FBPase 3|fructose-6-phosphate,2-kinase/fructose-2, 6-bisphosphatase|iPFK-2|inducible 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase|renal carcinoma antigen NY-REN-56 20141207 9606 5210 PFKFB4 - - MIM:605320|HGNC:HGNC:8875|Ensembl:ENSG00000114268|HPRD:05613|Vega:OTTHUMG00000133528 3 3p22-p21 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 protein-coding PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 O 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase-4|6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4|6PF-2-K/Fru-2,6-P2ase 4|6PF-2-K/Fru-2,6-P2ase testis-type isozyme|PFK/FBPase 4|bifunctional enzyme with kinase and biphosphatase activities 20141207 9606 5211 PFKL - ATP-PFK|PFK-B|PFK-L MIM:171860|HGNC:HGNC:8876|Ensembl:ENSG00000141959|HPRD:01385|Vega:OTTHUMG00000086910 21 21q22.3 phosphofructokinase, liver protein-coding PFKL phosphofructokinase, liver O 6-phosphofructokinase type B|6-phosphofructokinase, liver type|ATP-PFK|ATP-dependent 6-phosphofructokinase, liver type|liver-type 1-phosphofructokinase|phosphofructo-1-kinase isozyme B|phosphohexokinase 20141207 9606 5213 PFKM - ATP-PFK|GSD7|PFK-1|PFK1|PFKA|PFKX|PPP1R122 MIM:610681|HGNC:HGNC:8877|Ensembl:ENSG00000152556|HPRD:01988|Vega:OTTHUMG00000169898 12 12q13.3 phosphofructokinase, muscle protein-coding PFKM phosphofructokinase, muscle O 6-phosphofructo-1-kinase|6-phosphofructokinase type A|6-phosphofructokinase, muscle type|ATP-PFK|ATP-dependent 6-phosphofructokinase, muscle type|PFK-A|phosphofructo-1-kinase isozyme A|phosphofructokinase 1|phosphofructokinase, polypeptide X|phosphofructokinase-M|phosphohexokinase|protein phosphatase 1, regulatory subunit 122 20141207 9606 5214 PFKP RP11-298E9.2 ATP-PFK|PFK-C|PFK-P|PFKF MIM:171840|HGNC:HGNC:8878|Ensembl:ENSG00000067057|HPRD:01384|Vega:OTTHUMG00000017556 10 10p15.3-p15.2 phosphofructokinase, platelet protein-coding PFKP phosphofructokinase, platelet O 6-phosphofructokinase type C|6-phosphofructokinase, platelet type|ATP-PFK|ATP-dependent 6-phosphofructokinase, platelet type|Phosphofructokinase, platelet type|phosphofructo-1-kinase isozyme C|phosphofructokinase 1|phosphohexokinase 20141207 9606 5223 PGAM1 RP11-452K12.8 HEL-S-35|PGAM-B|PGAMA MIM:172250|HGNC:HGNC:8888|Ensembl:ENSG00000171314|HPRD:01392|Vega:OTTHUMG00000018846 10 10q25.3 phosphoglycerate mutase 1 (brain) protein-coding PGAM1 phosphoglycerate mutase 1 (brain) O BPG-dependent PGAM 1|epididymis secretory protein Li 35|phosphoglycerate mutase 1|phosphoglycerate mutase A, nonmuscle form|phosphoglycerate mutase isozyme B 20141207 9606 5224 PGAM2 - GSD10|PGAM-M|PGAMM MIM:612931|HGNC:HGNC:8889|Ensembl:ENSG00000164708|HPRD:02027|Vega:OTTHUMG00000155355 7 7p13-p12 phosphoglycerate mutase 2 (muscle) protein-coding PGAM2 phosphoglycerate mutase 2 (muscle) O BPG-dependent PGAM 2|muscle-specific phosphoglycerate mutase|phosphoglycerate mutase 2|phosphoglycerate mutase isozyme M 20141207 9606 5226 PGD - 6PGD MIM:172200|HGNC:HGNC:8891|Ensembl:ENSG00000142657|HPRD:01391|Vega:OTTHUMG00000001905 1 1p36.22 phosphogluconate dehydrogenase protein-coding PGD phosphogluconate dehydrogenase O 6-phosphogluconate dehydrogenase, decarboxylating 20141207 9606 5230 PGK1 RP4-570L12.1 HEL-S-68p|MIG10|PGKA MIM:311800|HGNC:HGNC:8896|HPRD:02412 X Xq13.3 phosphoglycerate kinase 1 protein-coding PGK1 phosphoglycerate kinase 1 O PRP 2|cell migration-inducing gene 10 protein|epididymis secretory sperm binding protein Li 68p|primer recognition protein 2 20141207 9606 5232 PGK2 - HEL-S-272|PGKB|PGKPS|dJ417L20.2 MIM:172270|HGNC:HGNC:8898|HPRD:01393 6 6p12.3 phosphoglycerate kinase 2 protein-coding PGK2 phosphoglycerate kinase 2 O epididymis secretory protein Li 272|phosphoglycerate kinase autosomal pseudogene|phosphoglycerate kinase, testis specific 20141207 9606 5236 PGM1 - CDG1T|GSD14 MIM:171900|HGNC:HGNC:8905|Ensembl:ENSG00000079739|HPRD:01389|Vega:OTTHUMG00000008968 1 1p31 phosphoglucomutase 1 protein-coding PGM1 phosphoglucomutase 1 O PGM 1|glucose phosphomutase 1|phosphoglucomutase-1 20141219 9606 5238 PGM3 - AGM1|IMD23|PAGM|PGM 3 MIM:172100|HGNC:HGNC:8907|Ensembl:ENSG00000013375|HPRD:01390|Vega:OTTHUMG00000015110 6 6q14.1-q15 phosphoglucomutase 3 protein-coding PGM3 phosphoglucomutase 3 O N-acetylglucosamine-phosphate mutase 1|acetylglucosamine phosphomutase|phosphoacetylglucosamine mutase 20141207 9606 5243 ABCB1 - ABC20|CD243|CLCS|GP170|MDR1|P-GP|PGY1 MIM:171050|HGNC:HGNC:40|Ensembl:ENSG00000085563|HPRD:01370|Vega:OTTHUMG00000023393 7 7q21.12 ATP-binding cassette, sub-family B (MDR/TAP), member 1 protein-coding ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 O P-glycoprotein 1|colchicin sensitivity|doxorubicin resistance|multidrug resistance protein 1 20141222 9606 5244 ABCB4 - ABC21|GBD1|ICP3|MDR2|MDR2/3|MDR3|PFIC-3|PGY3 MIM:171060|HGNC:HGNC:45|Ensembl:ENSG00000005471|HPRD:01371|Vega:OTTHUMG00000023396 7 7q21.1 ATP-binding cassette, sub-family B (MDR/TAP), member 4 protein-coding ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 O ATP-binding cassette sub-family B member 4|P glycoprotein 3/multiple drug resistance 3|P-glycoprotein 3|P-glycoprotein-3/multiple drug resistance-3|multidrug resistance protein 3|multiple drug resistance 3 20141207 9606 5255 PHKA1 - PHKA MIM:311870|HGNC:HGNC:8925|Ensembl:ENSG00000067177|HPRD:02415|Vega:OTTHUMG00000022696 X Xq12-q13 phosphorylase kinase, alpha 1 (muscle) protein-coding PHKA1 phosphorylase kinase, alpha 1 (muscle) O phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform|phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform|phosphorylase kinase alpha M subunit|phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis 20141219 9606 5256 PHKA2 RP3-499B10.2 GSD9A|PHK|PYK|PYKL|XLG|XLG2 MIM:300798|HGNC:HGNC:8926|Ensembl:ENSG00000044446|HPRD:02380|Vega:OTTHUMG00000021222 X Xp22.2-p22.1 phosphorylase kinase, alpha 2 (liver) protein-coding PHKA2 phosphorylase kinase, alpha 2 (liver) O phosphorylase b kinase regulatory subunit alpha liver isoform|phosphorylase b kinase regulatory subunit alpha, liver isoform|phosphorylase kinase alpha L subunit|phosphorylase kinase alpha-subunit 20141219 9606 5257 PHKB - - MIM:172490|HGNC:HGNC:8927|Ensembl:ENSG00000102893|HPRD:01407|Vega:OTTHUMG00000133102 16 16q12-q13 phosphorylase kinase, beta protein-coding PHKB phosphorylase kinase, beta O phosphorylase b kinase regulatory subunit beta|phosphorylase kinase beta-subunit|phosphorylase kinase subunit beta 20141219 9606 5260 PHKG1 - PHKG MIM:172470|HGNC:HGNC:8930|Ensembl:ENSG00000164776|HPRD:01404 7 7p11.2 phosphorylase kinase, gamma 1 (muscle) protein-coding PHKG1 phosphorylase kinase, gamma 1 (muscle) O PHK-gamma-M|phosphorylase b kinase gamma catalytic chain, skeletal muscle isoform|phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform|phosphorylase kinase gamma|phosphorylase kinase subunit gamma-1|serine/threonine-protein kinase PHKG1 20141207 9606 5261 PHKG2 RP11-2C24.4 GSD9C MIM:172471|HGNC:HGNC:8931|Ensembl:ENSG00000156873|HPRD:01405|Vega:OTTHUMG00000132400 16 16p11.2 phosphorylase kinase, gamma 2 (testis) protein-coding PHKG2 phosphorylase kinase, gamma 2 (testis) O PHK-gamma-LT|PHK-gamma-T|PSK-C3|Phosphorylase kinase, gamma 2 (testis/liver)|phosphorylase b kinase gamma catalytic chain, liver/testis isoform|phosphorylase b kinase gamma catalytic chain, testis/liver isoform|phosphorylase kinase subunit gamma-2|serine/threonine-protein kinase PHKG2 20141222 9606 5264 PHYH RP11-24J20.1 LN1|LNAP1|PAHX|PHYH1|RD MIM:602026|HGNC:HGNC:8940|Ensembl:ENSG00000107537|HPRD:03609|Vega:OTTHUMG00000017693 10 10p13 phytanoyl-CoA 2-hydroxylase protein-coding PHYH phytanoyl-CoA 2-hydroxylase O phytanic acid oxidase|phytanoil-CoA alpha hydroxylase|phytanoyl-CoA 2 oxoglutarate dioxygenase|phytanoyl-CoA alpha-hydroxylase|phytanoyl-CoA dioxygenase, peroxisomal 20141219 9606 5277 PIGA - GPI3|MCAHS2|PIG-A|PNH1 MIM:311770|HGNC:HGNC:8957|Ensembl:ENSG00000165195|HPRD:02410|Vega:OTTHUMG00000021174 X Xp22.1 phosphatidylinositol glycan anchor biosynthesis, class A protein-coding PIGA phosphatidylinositol glycan anchor biosynthesis, class A O GLCNAC-PI synthesis protein|GPI anchor biosynthesis|class A GlcNAc-inositol phospholipid assembly protein|phosphatidylinositol N-acetylglucosaminyltransferase subunit A|phosphatidylinositol-glycan biosynthesis, class A protein 20141207 9606 5279 PIGC - GPI2 MIM:601730|HGNC:HGNC:8960|Ensembl:ENSG00000135845|HPRD:03433|Vega:OTTHUMG00000034751 1 1q23-q25 phosphatidylinositol glycan anchor biosynthesis, class C protein-coding PIGC phosphatidylinositol glycan anchor biosynthesis, class C O PIG-C|phosphatidylinositol N-acetylglucosaminyltransferase subunit C|phosphatidylinositol-glycan biosynthesis class C protein|phosphatidylinositol-glycan biosynthesis, class C protein 20141207 9606 5281 PIGF - - MIM:600153|HGNC:HGNC:8962|Ensembl:ENSG00000151665|HPRD:02539|Vega:OTTHUMG00000128816 2 2p21-p16 phosphatidylinositol glycan anchor biosynthesis, class F protein-coding PIGF phosphatidylinositol glycan anchor biosynthesis, class F O GPI11 homolog|PIG-F|phosphatidylinositol-glycan biosynthesis class F protein 20141207 9606 5283 PIGH - GPI-H MIM:600154|HGNC:HGNC:8964|Ensembl:ENSG00000100564|HPRD:02540|Vega:OTTHUMG00000171806 14 14q24.1 phosphatidylinositol glycan anchor biosynthesis, class H protein-coding PIGH phosphatidylinositol glycan anchor biosynthesis, class H O PIG-H|phosphatidylinositol N-acetylglucosaminyltransferase subunit H|phosphatidylinositol glycan, class H|phosphatidylinositol-glycan biosynthesis class H protein|phosphatidylinositol-glycan biosynthesis, class H protein 20141207 9606 5286 PIK3C2A - CPK|PI3-K-C2(ALPHA)|PI3-K-C2A MIM:603601|HGNC:HGNC:8971|Ensembl:ENSG00000011405|HPRD:04672|Vega:OTTHUMG00000166036 11 11p15.5-p14 phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha protein-coding PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha O C2-containing phosphatidylinositol kinase|PI3K-C2-alpha|PI3K-C2alpha|phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha|phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit alpha|phosphoinositide 3-kinase-C2-alpha|phosphoinositide-3-kinase, class 2, alpha polypeptide|ptdIns-3-kinase C2 subunit alpha 20141207 9606 5287 PIK3C2B RP11-739N20.5 C2-PI3K MIM:602838|HGNC:HGNC:8972|Ensembl:ENSG00000133056|HPRD:04160|Vega:OTTHUMG00000036101 1 1q32 phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta protein-coding PIK3C2B phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta O PI3K-C2-beta|PI3K-C2beta|PTDINS-3-kinase C2 beta|phosphatidylinositol 3-kinase C2 domain-containing beta polypeptide|phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta|phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit beta|phosphoinositide 3-kinase-C2-beta|phosphoinositide-3-kinase, class 2, beta polypeptide|ptdIns-3-kinase C2 subunit beta 20141207 9606 5288 PIK3C2G - PI3K-C2-gamma|PI3K-C2GAMMA MIM:609001|HGNC:HGNC:8973|Ensembl:ENSG00000139144|HPRD:16416|Vega:OTTHUMG00000168841 12 12p12 phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma protein-coding PIK3C2G phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma O PTDINS-3-kinase C2 gamma|phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma|phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing gamma polypeptide|phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit gamma|phosphoinositide-3-kinase, class 2, gamma polypeptide|ptdIns-3-kinase C2 subunit gamma 20141207 9606 5289 PIK3C3 - VPS34|hVps34 MIM:602609|HGNC:HGNC:8974|HPRD:04009 18 18q12.3 phosphatidylinositol 3-kinase, catalytic subunit type 3 protein-coding PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3 O PI3-kinase type 3|PI3K type 3|PtdIns-3-kinase type 3|phosphatidylinositol 3-kinase catalytic subunit type 3|phosphatidylinositol 3-kinase p100 subunit|phosphoinositide-3-kinase, class 3 20141207 9606 5290 PIK3CA - CLOVE|CWS5|MCAP|MCM|MCMTC|PI3K|p110-alpha MIM:171834|HGNC:HGNC:8975|HPRD:01382 3 3q26.3 phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha protein-coding PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha O PI3-kinase p110 subunit alpha|PI3K-alpha|phosphatidylinositol 3-kinase, catalytic, 110-KD, alpha|phosphatidylinositol 3-kinase, catalytic, alpha polypeptide|phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform|phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha|phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit, alpha isoform|phosphoinositide-3-kinase, catalytic, alpha polypeptide|ptdIns-3-kinase subunit p110-alpha|serine/threonine protein kinase PIK3CA 20141222 9606 5291 PIK3CB - P110BETA|PI3K|PI3KBETA|PIK3C1 MIM:602925|HGNC:HGNC:8976|Ensembl:ENSG00000051382|HPRD:04234 3 3q22.3 phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta protein-coding PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta O PI3-kinase p110 subunit beta|PI3-kinase subunit beta|PI3K-beta|PtdIns-3-kinase p110|phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta|phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform|phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta|phosphoinositide-3-kinase, catalytic, beta polypeptide|ptdIns-3-kinase subunit beta|ptdIns-3-kinase subunit p110-beta 20141207 9606 5293 PIK3CD RP11-558F24.3 APDS|IMD14|P110DELTA|PI3K|p110D MIM:602839|HGNC:HGNC:8977|Ensembl:ENSG00000171608|Vega:OTTHUMG00000001450 1 1p36.2 phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta protein-coding PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta O PI3-kinase p110 subunit delta|PI3Kdelta|phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform|phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta|phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta isoform|phosphoinositide-3-kinase C|phosphoinositide-3-kinase, catalytic, delta polypeptide variant p37delta|ptdIns-3-kinase subunit p110-delta 20141207 9606 5294 PIK3CG - PI3CG|PI3K|PI3Kgamma|PIK3|p110gamma|p120-PI3K MIM:601232|HGNC:HGNC:8978|Ensembl:ENSG00000105851|HPRD:03135|Vega:OTTHUMG00000157641 7 7q22.3 phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma protein-coding PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma O 1-phosphatidylinositol 3-kinase|PI3-kinase subunit gamma|phosphatidylinositol 3 kinase gamma, p110 gamma|phosphatidylinositol 3-kinase catalytic 110-kD gamma|phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform|phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma|phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma isoform|phosphoinositide-3-kinase gamma catalytic subunit|ptdIns-3-kinase subunit gamma|ptdIns-3-kinase subunit p110-gamma|serine/threonine protein kinase PIK3CG 20141207 9606 5295 PIK3R1 - AGM7|GRB1|IMD36|p85|p85-ALPHA MIM:171833|HGNC:HGNC:8979|Ensembl:ENSG00000145675|HPRD:01381|Vega:OTTHUMG00000131251 5 5q13.1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) protein-coding PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) O PI3-kinase subunit p85-alpha|PI3K regulatory subunit alpha|phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha|phosphatidylinositol 3-kinase regulatory subunit alpha|phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)|phosphatidylinositol 3-kinase-associated p-85 alpha|phosphoinositide-3-kinase regulatory subunit|ptdIns-3-kinase regulatory subunit alpha 20141221 9606 5296 PIK3R2 - MPPH|MPPH1|P85B|p85|p85-BETA MIM:603157|HGNC:HGNC:8980|Ensembl:ENSG00000105647|HPRD:04404|Vega:OTTHUMG00000183383 19 19q13.2-q13.4 phosphoinositide-3-kinase, regulatory subunit 2 (beta) protein-coding PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) O PI3-kinase subunit p85-beta|PI3K regulatory subunit beta|phosphatidylinositol 3-kinase 85 kDa regulatory subunit beta|phosphatidylinositol 3-kinase regulatory subunit beta|phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 (p85 beta)|ptdIns-3-kinase regulatory subunit p85-beta 20141207 9606 5297 PI4KA - PI4K-ALPHA|PIK4CA|pi4K230 MIM:600286|HGNC:HGNC:8983|Ensembl:ENSG00000241973|HPRD:08972|Vega:OTTHUMG00000167440 22 22q11.21 phosphatidylinositol 4-kinase, catalytic, alpha protein-coding PI4KA phosphatidylinositol 4-kinase, catalytic, alpha O PI4-kinase alpha|phosphatidylinositol 4-kinase 230|phosphatidylinositol 4-kinase alpha|phosphatidylinositol 4-kinase, type III, alpha|ptdIns-4-kinase alpha 20141222 9606 5298 PI4KB RP11-126K1.4 NPIK|PI4K-BETA|PI4K92|PI4KBETA|PI4KIIIBETA|PIK4CB MIM:602758|HGNC:HGNC:8984|Ensembl:ENSG00000143393|HPRD:11805|Vega:OTTHUMG00000012348 1 1q21 phosphatidylinositol 4-kinase, catalytic, beta protein-coding PI4KB phosphatidylinositol 4-kinase, catalytic, beta O PtdIns 4-kinase beta|phosphatidylinositol 4-kinase beta|phosphatidylinositol 4-kinase, wortmannin-sensitive|type III phosphatidylinositol 4-kinase beta 20141207 9606 5305 PIP4K2A RP11-301N24.1 PI5P4KA|PIP5K2A|PIP5KII-alpha|PIP5KIIA|PIPK MIM:603140|HGNC:HGNC:8997|Ensembl:ENSG00000150867|HPRD:11931|Vega:OTTHUMG00000017810 10 10p12.2 phosphatidylinositol-5-phosphate 4-kinase, type II, alpha protein-coding PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha O 1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha|1-phosphatidylinositol-4-phosphate kinase|1-phosphatidylinositol-4-phosphate-5-kinase|1-phosphatidylinositol-5-phosphate 4-kinase 2-alpha|PI(5)P 4-kinase type II alpha|PIP4KII-alpha|PIP5KIII|PIP5KIIalpha|PtdIns(4)P-5-kinase B isoform|diphosphoinositide kinase 2-alpha|phosphatidylinositol 5-phosphate 4-kinase type II alpha|phosphatidylinositol 5-phosphate 4-kinase type-2 alpha|phosphatidylinositol-4-phosphate 5-kinase, type II, alpha|phosphatidylinositol-5-phosphate 4-kinase type-2 alpha|ptdIns(4)P-5-kinase C isoform|ptdIns(5)P-4-kinase isoform 2-alpha|type II phosphatidylinositol-4-phosphate 5-kinase 53 K isoform 20141207 9606 5313 PKLR - PK1|PKL|PKR|PKRL|RPK MIM:609712|HGNC:HGNC:9020|Ensembl:ENSG00000143627|HPRD:11841|Vega:OTTHUMG00000035875 1 1q21 pyruvate kinase, liver and RBC protein-coding PKLR pyruvate kinase, liver and RBC O R-type/L-type pyruvate kinase|pyruvate kinase 1|pyruvate kinase PKLR|pyruvate kinase isozyme R/L|pyruvate kinase isozymes L/R|pyruvate kinase isozymes R/L|pyruvate kinase type L|pyruvate kinase, liver and blood cell|red cell/liver pyruvate kinase 20141207 9606 5319 PLA2G1B - PLA2|PLA2A|PPLA2 MIM:172410|HGNC:HGNC:9030|Ensembl:ENSG00000170890|HPRD:01396|Vega:OTTHUMG00000169343 12 12q24.31 phospholipase A2, group IB (pancreas) protein-coding PLA2G1B phospholipase A2, group IB (pancreas) O phosphatidylcholine 2-acylhydrolase 1B|phospholipase A2 20141207 9606 5320 PLA2G2A - MOM1|PLA2|PLA2B|PLA2L|PLA2S|PLAS1|sPLA2 MIM:172411|HGNC:HGNC:9031|Ensembl:ENSG00000188257|HPRD:01397|Vega:OTTHUMG00000002699 1 1p35 phospholipase A2, group IIA (platelets, synovial fluid) protein-coding PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) O GIIC sPLA2|NPS-PLA2|group IIA phospholipase A2|non-pancreatic secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 2A|phospholipase A2, membrane associated 20141222 9606 5321 PLA2G4A - PLA2G4|cPLA2-alpha MIM:600522|HGNC:HGNC:9035|Ensembl:ENSG00000116711|HPRD:08986|Vega:OTTHUMG00000035512 1 1q25 phospholipase A2, group IVA (cytosolic, calcium-dependent) protein-coding PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) O cPLA2|calcium-dependent phospholipid-binding protein|cytosolic phospholipase A2|lysophospholipase|phosphatidylcholine 2-acylhydrolase|phospholipase A2 group IVA 20141207 9606 5322 PLA2G5 - FRFB|GV-PLA2|PLA2-10|hVPLA(2) MIM:601192|HGNC:HGNC:9038|Ensembl:ENSG00000127472|HPRD:03117|Vega:OTTHUMG00000002698 1 1p36-p34 phospholipase A2, group V protein-coding PLA2G5 phospholipase A2, group V O Ca2+-dependent phospholipase A2|calcium-dependent phospholipase A2|phosphatidylcholine 2-acylhydrolase 5 20141207 9606 5329 PLAUR - CD87|U-PAR|UPAR|URKR MIM:173391|HGNC:HGNC:9053|Ensembl:ENSG00000011422|HPRD:01421|Vega:OTTHUMG00000182778 19 19q13 plasminogen activator, urokinase receptor protein-coding PLAUR plasminogen activator, urokinase receptor O monocyte activation antigen Mo3|u-plasminogen activator receptor form 2|urokinase plasminogen activator surface receptor|urokinase-type plasminogen activator (uPA) receptor 20141222 9606 5330 PLCB2 RP11-133K1.12 PLC-beta-2 MIM:604114|HGNC:HGNC:9055|Ensembl:ENSG00000137841|HPRD:04985|Vega:OTTHUMG00000172412 15 15q15 phospholipase C, beta 2 protein-coding PLCB2 phospholipase C, beta 2 O 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2|phosphoinositide phospholipase C-beta-2 20141207 9606 5331 PLCB3 - - MIM:600230|HGNC:HGNC:9056|Ensembl:ENSG00000149782|HPRD:02577|Vega:OTTHUMG00000167816 11 11q13 phospholipase C, beta 3 (phosphatidylinositol-specific) protein-coding PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific) O 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3|PLC beta 3|PLC-beta-3|phosphoinositide phospholipase C-beta-3 20141207 9606 5332 PLCB4 RP4-811H13.1 ARCND2|PI-PLC MIM:600810|HGNC:HGNC:9059|Ensembl:ENSG00000101333|HPRD:02885|Vega:OTTHUMG00000031853 20 20p12 phospholipase C, beta 4 protein-coding PLCB4 phospholipase C, beta 4 O 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate|1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4|PLC-beta-4|dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4))|inositoltrisphosphohydrolase|monophosphatidylinositol phosphodiesterase|phosphoinositidase C|phosphoinositide phospholipase C-beta-4|triphosphoinositide phosphodiesterase 20141207 9606 5333 PLCD1 - NDNC3|PLC-III MIM:602142|HGNC:HGNC:9060|Ensembl:ENSG00000187091|HPRD:09073|Vega:OTTHUMG00000130813 3 3p22-p21.3 phospholipase C, delta 1 protein-coding PLCD1 phospholipase C, delta 1 O 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-1|PLC-delta-1|phosphoinositide phospholipase C-delta-1|phospholipase C-III 20141207 9606 5335 PLCG1 RP3-511B24.2 NCKAP3|PLC-II|PLC1|PLC148|PLCgamma1 MIM:172420|HGNC:HGNC:9065|Ensembl:ENSG00000124181|HPRD:01398|Vega:OTTHUMG00000033082 20 20q12-q13.1 phospholipase C, gamma 1 protein-coding PLCG1 phospholipase C, gamma 1 O 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate|1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma 1|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma-1|PLC-148|PLC-gamma-1|inositoltrisphosphohydrolase|monophosphatidylinositol phosphodiesterase|phosphatidylinositol phospholipase C|phosphoinositidase C|phosphoinositide phospholipase C|phosphoinositide phospholipase C-gamma-1|phospholipase C, gamma 1 (formerly subtype 148)|phospholipase C-148|phospholipase C-II|phospholipase C-gamma-1|triphosphoinositide phosphodiesterase 20141207 9606 5336 PLCG2 RP11-510J16.3 APLAID|FCAS3|PLC-IV|PLC-gamma-2 MIM:600220|HGNC:HGNC:9066|Ensembl:ENSG00000197943|Ensembl:ENSG00000261218|HPRD:02570 16 16q24.1 phospholipase C, gamma 2 (phosphatidylinositol-specific) protein-coding PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) O 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2|phosphoinositide phospholipase C-gamma-2|phospholipase C-IV 20141207 9606 5337 PLD1 - - MIM:602382|HGNC:HGNC:9067|Ensembl:ENSG00000075651|HPRD:03855|Vega:OTTHUMG00000156947 3 3q26 phospholipase D1, phosphatidylcholine-specific protein-coding PLD1 phospholipase D1, phosphatidylcholine-specific O choline phosphatase 1|phosphatidylcholine-hydrolyzing phospholipase D1|phospholipase D1 20141222 9606 5338 PLD2 - - MIM:602384|HGNC:HGNC:9068|Ensembl:ENSG00000129219|HPRD:03857|Vega:OTTHUMG00000090779 17 17p13.1 phospholipase D2 protein-coding PLD2 phospholipase D2 O PLD1C|choline phosphatase 2|hPLD2|phosphatidylcholine-hydrolyzing phospholipase D2 20141222 9606 5346 PLIN1 - FPLD4|PERI|PLIN MIM:170290|HGNC:HGNC:9076|Ensembl:ENSG00000166819|HPRD:01364|Vega:OTTHUMG00000149813 15 15q26 perilipin 1 protein-coding PLIN1 perilipin 1 O lipid droplet-associated protein|perilipin-1 20141207 9606 5360 PLTP - BPIFE|HDLCQ9 MIM:172425|HGNC:HGNC:9093|Ensembl:ENSG00000100979|HPRD:01399|Vega:OTTHUMG00000033047 20 20q13.12 phospholipid transfer protein protein-coding PLTP phospholipid transfer protein O BPI fold containing family E|lipid transfer protein II 20141207 9606 5372 PMM1 - Sec53 MIM:601786|HGNC:HGNC:9114|Ensembl:ENSG00000100417|HPRD:03473|Vega:OTTHUMG00000150972 22 22q13.2 phosphomannomutase 1 protein-coding PMM1 phosphomannomutase 1 O PMM 1|PMMH-22|brain glucose-1,6-bisphosphatase 20141207 9606 5373 PMM2 - CDG1|CDG1a|CDGS|PMI|PMI1|PMM 2 MIM:601785|HGNC:HGNC:9115|Ensembl:ENSG00000140650|HPRD:03472|Vega:OTTHUMG00000129697 16 16p13 phosphomannomutase 2 protein-coding PMM2 phosphomannomutase 2 O phosphomannose isomerase 1 20141222 9606 5393 EXOSC9 - PM/Scl-75|PMSCL1|RRP45|Rrp45p|p5|p6 MIM:606180|HGNC:HGNC:9137|Ensembl:ENSG00000123737|HPRD:07315|Vega:OTTHUMG00000128783 4 4q27 exosome component 9 protein-coding EXOSC9 exosome component 9 O P75 polymyositis-scleroderma overlap syndrome associated autoantigen|P75 polymyositis-scleroderma overlap syndrome-associated autoantigen|PMSCL autoantigen, 75kD|autoantigen PM/Scl 1|exosome complex component RRP45|exosome complex exonuclease RRP45|polymyositis/scleroderma autoantigen 1, 75kDa 20141207 9606 5406 PNLIP RP11-33D13.1 PL|PNLIPD|PTL MIM:246600|HGNC:HGNC:9155|Ensembl:ENSG00000175535|HPRD:02005|Vega:OTTHUMG00000019103 10 10q26.1 pancreatic lipase protein-coding PNLIP pancreatic lipase O pancreatic triacylglycerol lipase|triacylglycerol acylhydrolase 20141207 9606 5407 PNLIPRP1 - PLRP1 MIM:604422|HGNC:HGNC:9156|Ensembl:ENSG00000187021|HPRD:05109|Vega:OTTHUMG00000019109 10 10q25.3 pancreatic lipase-related protein 1 protein-coding PNLIPRP1 pancreatic lipase-related protein 1 O inactive pancreatic lipase-related protein 1 20141220 9606 5408 PNLIPRP2 - PLRP2 MIM:604423|HGNC:HGNC:9157|Ensembl:ENSG00000266200|HPRD:05110|Vega:OTTHUMG00000181599 10 10q25.3 pancreatic lipase-related protein 2 protein-coding PNLIPRP2 pancreatic lipase-related protein 2 O PL-RP2|galactolipase 20141207 9606 5409 PNMT - PENT|PNMTase MIM:171190|HGNC:HGNC:9160|HPRD:07176 17 17q12 phenylethanolamine N-methyltransferase protein-coding PNMT phenylethanolamine N-methyltransferase O noradrenaline N-methyltransferase|phenylethanolamine N-methylase 20141207 9606 5422 POLA1 - NSX|POLA|p180 MIM:312040|HGNC:HGNC:9173|Ensembl:ENSG00000101868|HPRD:02416|Vega:OTTHUMG00000021277 X Xp22.1-p21.3 polymerase (DNA directed), alpha 1, catalytic subunit protein-coding POLA1 polymerase (DNA directed), alpha 1, catalytic subunit O DNA polymerase alpha 1 catalytic subunit|DNA polymerase alpha catalytic subunit|DNA polymerase alpha catalytic subunit p180|DNA polymerase alpha p180 subunit|polymerase (DNA-directed), alpha (70kD) 20141207 9606 5424 POLD1 - CDC2|CRCS10|MDPL|POLD MIM:174761|HGNC:HGNC:9175|Ensembl:ENSG00000062822|HPRD:08882|Vega:OTTHUMG00000183037 19 19q13.3 polymerase (DNA directed), delta 1, catalytic subunit protein-coding POLD1 polymerase (DNA directed), delta 1, catalytic subunit O CDC2 homolog|DNA polymerase delta catalytic subunit|DNA polymerase subunit delta p125|polymerase (DNA directed), delta 1, catalytic subunit 125kDa 20141207 9606 5425 POLD2 - - MIM:600815|HGNC:HGNC:9176|Ensembl:ENSG00000106628|HPRD:15982|Vega:OTTHUMG00000022909 7 7p13 polymerase (DNA directed), delta 2, accessory subunit protein-coding POLD2 polymerase (DNA directed), delta 2, accessory subunit O DNA polymerase delta subunit 2|DNA polymerase delta subunit p50|Pol delta B subunit (p50)|polymerase (DNA directed), delta 2, regulatory subunit 50kDa 20141207 9606 5426 POLE - CRCS12|FILS|POLE1 MIM:174762|HGNC:HGNC:9177|Ensembl:ENSG00000177084|HPRD:07177|Vega:OTTHUMG00000168045 12 12q24.3 polymerase (DNA directed), epsilon, catalytic subunit protein-coding POLE polymerase (DNA directed), epsilon, catalytic subunit O DNA polymerase II subunit A|DNA polymerase epsilon catalytic subunit A 20141207 9606 5427 POLE2 - DPE2 MIM:602670|HGNC:HGNC:9178|Ensembl:ENSG00000100479|HPRD:16007|Vega:OTTHUMG00000170813 14 14q21-q22 polymerase (DNA directed), epsilon 2, accessory subunit protein-coding POLE2 polymerase (DNA directed), epsilon 2, accessory subunit O DNA polymerase II subunit 2|DNA polymerase epsilon subunit 2|DNA polymerase epsilon subunit B|polymerase (DNA directed), epsilon 2 (p59 subunit) 20141207 9606 5430 POLR2A - POLR2|POLRA|RPB1|RPBh1|RPO2|RPOL2|RpIILS|hRPB220|hsRPB1 MIM:180660|HGNC:HGNC:9187|Ensembl:ENSG00000181222|HPRD:08916|Vega:OTTHUMG00000177594 17 17p13.1 polymerase (RNA) II (DNA directed) polypeptide A, 220kDa protein-coding POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa O DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit|DNA-directed RNA polymerase II subunit A|DNA-directed RNA polymerase II subunit RPB1|DNA-directed RNA polymerase III largest subunit|RNA polymerase II subunit B1|RNA-directed RNA polymerase II subunit RPB1 20141207 9606 5431 POLR2B - POL2RB|RPB2|hRPB140|hsRPB2 MIM:180661|HGNC:HGNC:9188|Ensembl:ENSG00000047315|HPRD:15943|Vega:OTTHUMG00000128771 4 4q12 polymerase (RNA) II (DNA directed) polypeptide B, 140kDa protein-coding POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa O DNA directed RNA polymerase II 140 kDa polypeptide, RNA polymerase II subunit 2, RNA polymerase II second largest subunit|DNA-directed RNA polymerase II 140 kDa polypeptide|DNA-directed RNA polymerase II subunit B|DNA-directed RNA polymerase II subunit RPB2|RNA polymerase II subunit 2|RNA polymerase II subunit B2 20141207 9606 5432 POLR2C A-152E5.7 RPB3|RPB31|hRPB33|hsRPB3 MIM:180663|HGNC:HGNC:9189|Ensembl:ENSG00000102978|HPRD:15945|Vega:OTTHUMG00000133464 16 16q13-q21 polymerase (RNA) II (DNA directed) polypeptide C, 33kDa protein-coding POLR2C polymerase (RNA) II (DNA directed) polypeptide C, 33kDa O DNA-directed RNA polymerase II 33 kDa polypeptide|DNA-directed RNA polymerase II subunit C|DNA-directed RNA polymerase II subunit RPB3|RNA polymerase II subunit 3|RNA polymerase II subunit B3|RPB33 20141207 9606 5433 POLR2D - HSRBP4|HSRPB4|RBP4|RPB16 MIM:606017|HGNC:HGNC:9191|Ensembl:ENSG00000144231|HPRD:16191|Vega:OTTHUMG00000131531 2 2q21 polymerase (RNA) II (DNA directed) polypeptide D protein-coding POLR2D polymerase (RNA) II (DNA directed) polypeptide D O DNA-directed RNA polymerase II 16 kDa polypeptide|DNA-directed RNA polymerase II subunit D|DNA-directed RNA polymerase II subunit RPB4|RNA polymerase II 16 kDa subunit|RNA polymerase II subunit B4|RNA polymerase II subunit hsRBP4 20141207 9606 5434 POLR2E - RPABC1|RPB5|XAP4|hRPB25|hsRPB5 MIM:180664|HGNC:HGNC:9192|Ensembl:ENSG00000099817|HPRD:15946|Vega:OTTHUMG00000181873 19 19p13.3 polymerase (RNA) II (DNA directed) polypeptide E, 25kDa protein-coding POLR2E polymerase (RNA) II (DNA directed) polypeptide E, 25kDa O DNA directed RNA polymerase II 23 kda polypeptide|DNA-directed RNA polymerase II 23 kDa polypeptide|DNA-directed RNA polymerase II subunit E|DNA-directed RNA polymerase subunit RPABC1|DNA-directed RNA polymerases I, II, and III subunit RPABC1|RNA polymerases I, II, and III subunit ABC1|RPB5 homolog 20141207 9606 5435 POLR2F - HRBP14.4|POLRF|RPABC14.4|RPABC2|RPB14.4|RPB6|RPC15 MIM:604414|HGNC:HGNC:9193|Ensembl:ENSG00000100142|HPRD:05105|Vega:OTTHUMG00000151160 22 22q13.1 polymerase (RNA) II (DNA directed) polypeptide F protein-coding POLR2F polymerase (RNA) II (DNA directed) polypeptide F O DNA-directed RNA polymerase II subunit F|DNA-directed RNA polymerases I, II, and III 14.4 kDa polypeptide|DNA-directed RNA polymerases I, II, and III subunit RPABC2|RNA Polymerase II subunit 14.4 kD|RNA polymerases I, II, and III subunit ABC2 20141207 9606 5436 POLR2G - RPB19|RPB7|hRPB19|hsRPB7 MIM:602013|HGNC:HGNC:9194|Ensembl:ENSG00000168002|HPRD:15995|Vega:OTTHUMG00000167609 11 11q13.1 polymerase (RNA) II (DNA directed) polypeptide G protein-coding POLR2G polymerase (RNA) II (DNA directed) polypeptide G O DNA directed RNA polymerase II 19 kda polypeptide|DNA-directed RNA polymerase II 19 kDa polypeptide|DNA-directed RNA polymerase II subunit G|DNA-directed RNA polymerase II subunit RPB7|RNA polymerase II 19 kDa subunit|RNA polymerase II seventh subunit|RNA polymerase II subunit B7 20141207 9606 5437 POLR2H - RPABC3|RPB17|RPB8 MIM:606023|HGNC:HGNC:9195|Ensembl:ENSG00000163882|HPRD:09082|Vega:OTTHUMG00000156746 3 3q28 polymerase (RNA) II (DNA directed) polypeptide H protein-coding POLR2H polymerase (RNA) II (DNA directed) polypeptide H O DNA-directed RNA polymerase II subunit H|DNA-directed RNA polymerases I, II, and III 17.1 kDa polypeptide|DNA-directed RNA polymerases I, II, and III subunit RPABC3|RPB8 homolog 20141207 9606 5438 POLR2I - RPB9|hRPB14.5 MIM:180662|HGNC:HGNC:9196|Ensembl:ENSG00000105258|HPRD:15944|Vega:OTTHUMG00000181749 19 19q12 polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa protein-coding POLR2I polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa O DNA-directed RNA polymerase II 14.5 kDa polypeptide|DNA-directed RNA polymerase II subunit I|DNA-directed RNA polymerase II subunit RPB9|RNA polymerase II 14.5 kDa subunit|RNA polymerase II subunit B9|RPB14.5 20141207 9606 5439 POLR2J - POLR2J1|RPB11|RPB11A|RPB11m|hRPB14 MIM:604150|HGNC:HGNC:9197|Ensembl:ENSG00000005075|HPRD:16038|Vega:OTTHUMG00000150387 7 7q22.1 polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa protein-coding POLR2J polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa O DNA-directed RNA polymerase II subunit J-1|DNA-directed RNA polymerase II subunit RPB11-a|RNA polymerase II 13.3 kDa subunit|RNA polymerase II subunit B11-a 20141207 9606 5440 POLR2K - ABC10-alpha|RPABC4|RPB10alpha|RPB12|RPB7.0|hRPB7.0|hsRPB10a MIM:606033|HGNC:HGNC:9198|Ensembl:ENSG00000147669|HPRD:05826|Vega:OTTHUMG00000164705 8 8q22.2 polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa protein-coding POLR2K polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa O DNA directed RNA polymerases I, II, and III 7.0 kda polypeptide|DNA-directed RNA polymerase II subunit K|DNA-directed RNA polymerases I, II, and III subunit RPABC4|RNA polymerase II 7.0 kDa subunit|RNA polymerases I, II, and III subunit ABC4 20141207 9606 5441 POLR2L - RBP10|RPABC5|RPB10|RPB10beta|RPB7.6|hRPB7.6 MIM:601189|HGNC:HGNC:9199|Ensembl:ENSG00000177700|HPRD:01155|Vega:OTTHUMG00000133316 11 11p15 polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa protein-coding POLR2L polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa O DNA-directed RNA polymerase III subunit L|DNA-directed RNA polymerases I, II, and III subunit RPABC5|RNA polymerase II 7.6 kDa subunit|RNA polymerases I, II, and III subunit ABC5|RPB10 homolog 20141207 9606 5443 POMC - ACTH|CLIP|LPH|MSH|NPP|POC MIM:176830|HGNC:HGNC:9201|Ensembl:ENSG00000115138|HPRD:01462 2 2p23.3 proopiomelanocortin protein-coding POMC proopiomelanocortin O adrenocorticotropic hormone|adrenocorticotropin|alpha-MSH|alpha-melanocyte-stimulating hormone|beta-LPH|beta-MSH|beta-endorphin|beta-melanocyte-stimulating hormone|corticotropin-like intermediary peptide|corticotropin-lipotropin|gamma-LPH|gamma-MSH|lipotropin beta|lipotropin gamma|melanotropin alpha|melanotropin beta|melanotropin gamma|met-enkephalin|opiomelanocortin prepropeptide|pro-ACTH-endorphin|pro-opiomelanocortin|proopiomelanocortin preproprotein 20141207 9606 5465 PPARA SC22CB-5E3.5 NR1C1|PPAR|PPARalpha|hPPAR MIM:170998|HGNC:HGNC:9232|Ensembl:ENSG00000186951|HPRD:01369|Vega:OTTHUMG00000150443 22 22q13.31 peroxisome proliferator-activated receptor alpha protein-coding PPARA peroxisome proliferator-activated receptor alpha O PPAR-alpha|nuclear receptor subfamily 1 group C member 1|peroxisome proliferative activated receptor, alpha|peroxisome proliferator-activated nuclear receptor alpha variant 3 20141222 9606 5468 PPARG - CIMT1|GLM1|NR1C3|PPARG1|PPARG2|PPARgamma MIM:601487|HGNC:HGNC:9236|Ensembl:ENSG00000132170|HPRD:03288|Vega:OTTHUMG00000129764 3 3p25 peroxisome proliferator-activated receptor gamma protein-coding PPARG peroxisome proliferator-activated receptor gamma O PPAR-gamma|nuclear receptor subfamily 1 group C member 3|peroxisome proliferator-activated nuclear receptor gamma variant 1 20141222 9606 5469 MED1 - CRSP1|CRSP200|DRIP205|DRIP230|PBP|PPARBP|PPARGBP|RB18A|TRAP220|TRIP2 MIM:604311|HGNC:HGNC:9234|Ensembl:ENSG00000125686|HPRD:05055|Vega:OTTHUMG00000133216 17 17q12 mediator complex subunit 1 protein-coding MED1 mediator complex subunit 1 O ARC205|PPAR binding protein|PPAR-binding protein|PPARG binding protein|TR-interacting protein 2|TRIP-2|activator-recruited cofactor 205 kDa component|mediator of RNA polymerase II transcription subunit 1|p53 regulatory protein RB18A|peroxisome proliferator-activated receptor-binding protein|thyroid hormone receptor-associated protein complex 220 kDa component|thyroid hormone receptor-associated protein complex component TRAP220|thyroid receptor interacting protein 2|thyroid receptor-interacting protein 2|vitamin D receptor-interacting protein 230 kD|vitamin D receptor-interacting protein complex component DRIP205 20141207 9606 5471 PPAT - ATASE|GPAT|PRAT MIM:172450|HGNC:HGNC:9238|Ensembl:ENSG00000128059|HPRD:01402|Vega:OTTHUMG00000128842 4 4q12 phosphoribosyl pyrophosphate amidotransferase protein-coding PPAT phosphoribosyl pyrophosphate amidotransferase O amidophosphoribosyltransferase|glutamine PRPP amidotransferase|glutamine phosphoribosylpyrophosphatate amidotransferase|glutamine phosphoribosylpyrophosphate amidotransferase 20141207 9606 5476 CTSA RP3-337O18.1 GLB2|GSL|NGBE|PPCA|PPGB MIM:613111|HGNC:HGNC:9251|Ensembl:ENSG00000064601|HPRD:02020|Vega:OTTHUMG00000033078 20 20q13.1 cathepsin A protein-coding CTSA cathepsin A O beta-galactosidase 2|beta-galactosidase protective protein|carboxypeptidase C|carboxypeptidase L|carboxypeptidase Y-like kininase|carboxypeptidase-L|deamidase|lysosomal carboxypeptidase A|lysosomal protective protein|protective protein cathepsin A|urinary kininase 20141207 9606 5498 PPOX - PPO|V290M|VP MIM:600923|HGNC:HGNC:9280|Ensembl:ENSG00000143224|HPRD:02953|Vega:OTTHUMG00000034342 1 1q22 protoporphyrinogen oxidase protein-coding PPOX protoporphyrinogen oxidase O - 20141219 9606 5499 PPP1CA - PP-1A|PP1A|PP1alpha|PPP1A MIM:176875|HGNC:HGNC:9281|Ensembl:ENSG00000172531|HPRD:15942|Vega:OTTHUMG00000167671 11 11q13 protein phosphatase 1, catalytic subunit, alpha isozyme protein-coding PPP1CA protein phosphatase 1, catalytic subunit, alpha isozyme O protein phosphatase 1, catalytic subunit, alpha isoform|serine/threonine protein phosphatase PP1-alpha 1 catalytic subunit|serine/threonine-protein phosphatase PP1-alpha catalytic subunit 20141222 9606 5500 PPP1CB - HEL-S-80p|PP-1B|PP1B|PP1beta|PPP1CD MIM:600590|HGNC:HGNC:9282|Ensembl:ENSG00000213639|HPRD:11792|Vega:OTTHUMG00000152011 2 2p23 protein phosphatase 1, catalytic subunit, beta isozyme protein-coding PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme O epididymis secretory sperm binding protein Li 80p|protein phosphatase 1, catalytic subunit, beta isoform|protein phosphatase 1, catalytic subunit, delta isoform|protein phosphatase 1-beta|protein phosphatase 1-delta|serine/threonine protein phosphatase PP1-beta catalytic subunit|serine/threonine-protein phosphatase PP1-beta catalytic subunit 20141207 9606 5501 PPP1CC - PP-1G|PP1C|PPP1G MIM:176914|HGNC:HGNC:9283|Ensembl:ENSG00000186298|HPRD:08911|Vega:OTTHUMG00000169531 12 12q24.1-q24.2 protein phosphatase 1, catalytic subunit, gamma isozyme protein-coding PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme O protein phosphatase 1, catalytic subunit, gamma isoform|protein phosphatase 1C catalytic subunit|serine/threonine phosphatase 1 gamma|serine/threonine-protein phosphatase PP1-gamma catalytic subunit 20141222 9606 5515 PPP2CA - PP2Ac|PP2CA|PP2Calpha|RP-C MIM:176915|HGNC:HGNC:9299|HPRD:08912 5 5q31.1 protein phosphatase 2, catalytic subunit, alpha isozyme protein-coding PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme O PP2A-alpha|protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform|protein phosphatase 2A catalytic subunit, alpha isoform|replication protein C|serine/threonine protein phosphatase 2A, catalytic subunit, alpha isoform|serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform 20141222 9606 5516 PPP2CB - PP2Abeta|PP2CB MIM:176916|HGNC:HGNC:9300|Ensembl:ENSG00000104695|HPRD:01487|Vega:OTTHUMG00000163949 8 8p12 protein phosphatase 2, catalytic subunit, beta isozyme protein-coding PPP2CB protein phosphatase 2, catalytic subunit, beta isozyme O PP2A-beta|protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform|protein phosphatase 2, catalytic subunit, beta isoform|protein phosphatase 2A catalytic subunit, beta isoform|protein phosphatase type 2A catalytic subunit|serine/threonine protein phosphatase 2A, catalytic subunit, beta isoform|serine/threonine-protein phosphatase 2A catalytic subunit beta isoform 20141207 9606 5518 PPP2R1A - PP2A-Aalpha|PP2AAALPHA|PR65A MIM:605983|HGNC:HGNC:9302|HPRD:16184 19 19q13.41 protein phosphatase 2, regulatory subunit A, alpha protein-coding PPP2R1A protein phosphatase 2, regulatory subunit A, alpha O PP2A subunit A isoform PR65-alpha|PP2A subunit A isoform R1-alpha|medium tumor antigen-associated 61 KDA protein|protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform|serine/threonine protein phosphatase 2A, 65 kDa regulatory subunit A, alpha isoform|serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform 20141207 9606 5519 PPP2R1B - PP2A-Abeta|PR65B MIM:603113|HGNC:HGNC:9303|Ensembl:ENSG00000137713|HPRD:04384|Vega:OTTHUMG00000166741 11 11q23.2 protein phosphatase 2, regulatory subunit A, beta protein-coding PPP2R1B protein phosphatase 2, regulatory subunit A, beta O PP2A, subunit A, PR65-beta isoform|PP2A, subunit A, R1-beta isoform|protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform|protein phosphatase 2, structural/regulatory subunit A, beta|serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform 20141207 9606 5520 PPP2R2A - B55A|B55ALPHA|PR52A|PR55A MIM:604941|HGNC:HGNC:9304|Ensembl:ENSG00000221914|HPRD:09223|Vega:OTTHUMG00000163850 8 8p21.2 protein phosphatase 2, regulatory subunit B, alpha protein-coding PPP2R2A protein phosphatase 2, regulatory subunit B, alpha O protein phosphatase 2 (formerly 2A), regulatory subunit B (PR52), alpha isoform|serine/threonine protein phosphatase 2A, 55 KDA regulatory subunit B, alpha isoform|serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform 20141207 9606 5528 PPP2R5D - B56D MIM:601646|HGNC:HGNC:9312|Ensembl:ENSG00000112640|HPRD:09039|Vega:OTTHUMG00000014716 6 6p21.1 protein phosphatase 2, regulatory subunit B', delta protein-coding PPP2R5D protein phosphatase 2, regulatory subunit B', delta O PP2A B subunit isoform B'-delta|PP2A B subunit isoform B56-delta|PP2A B subunit isoform PR61-delta|PP2A B subunit isoform R5-delta|PP2A, B subunit, B' delta isoform|PP2A, B subunit, B56 delta isoform|PP2A, B subunit, PR61 delta isoform|PP2A, B subunit, R5 delta isoform|Serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, delta isoform|protein phosphatase 2, regulatory subunit B (B56), delta isoform|protein phosphatase 2, regulatory subunit B', delta isoform|serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform 20141207 9606 5549 PRELP RP11-91B9.1 MST161|MSTP161|SLRR2A MIM:601914|HGNC:HGNC:9357|Ensembl:ENSG00000188783|HPRD:03556|Vega:OTTHUMG00000035911 1 1q32 proline/arginine-rich end leucine-rich repeat protein protein-coding PRELP proline/arginine-rich end leucine-rich repeat protein O 55 kDa leucine-rich repeat protein of articular cartilage|prolargin|prolargin proteoglycan|proline-arginine-rich end leucine-rich repeat protein 20141207 9606 5557 PRIM1 - p49 MIM:176635|HGNC:HGNC:9369|Ensembl:ENSG00000198056|HPRD:08899|Vega:OTTHUMG00000170034 12 12q13 primase, DNA, polypeptide 1 (49kDa) protein-coding PRIM1 primase, DNA, polypeptide 1 (49kDa) O DNA primase 1|DNA primase 49 kDa subunit|DNA primase small subunit|DNA primase subunit 48|primase p49 subunit|primase polypeptide 1, 49kDa 20141207 9606 5558 PRIM2 RP3-401D24.1 PRIM2A|p58 MIM:176636|HGNC:HGNC:9370|Ensembl:ENSG00000146143|HPRD:08900|Vega:OTTHUMG00000016190 6 6p12-p11.1 primase, DNA, polypeptide 2 (58kDa) protein-coding PRIM2 primase, DNA, polypeptide 2 (58kDa) O DNA primase 58 kDa subunit|DNA primase large subunit 20141212 9606 5562 PRKAA1 - AMPK|AMPKa1 MIM:602739|HGNC:HGNC:9376|Ensembl:ENSG00000132356|HPRD:04115|Vega:OTTHUMG00000162269 5 5p12 protein kinase, AMP-activated, alpha 1 catalytic subunit protein-coding PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit O 5'-AMP-activated protein kinase catalytic subunit alpha-1|5'-AMP-activated protein kinase, catalytic alpha-1 chain|ACACA kinase|AMP -activate kinase alpha 1 subunit|AMP-activated protein kinase, catalytic, alpha-1|AMPK alpha 1|AMPK subunit alpha-1|HMGCR kinase|acetyl-CoA carboxylase kinase|hydroxymethylglutaryl-CoA reductase kinase|tau-protein kinase PRKAA1 20141222 9606 5563 PRKAA2 - AMPK|AMPK2|AMPKa2|PRKAA MIM:600497|HGNC:HGNC:9377|Ensembl:ENSG00000162409|HPRD:02735|Vega:OTTHUMG00000008282 1 1p31 protein kinase, AMP-activated, alpha 2 catalytic subunit protein-coding PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit O 5'-AMP-activated protein kinase catalytic subunit alpha-2|5'-AMP-activated protein kinase, catalytic alpha-2 chain|ACACA kinase|AMP-activated protein kinase alpha-2 subunit variant 2|AMP-activated protein kinase alpha-2 subunit variant 3|AMPK alpha 2|AMPK subunit alpha-2|AMPK-alpha-2 chain|HMGCR kinase|acetyl-CoA carboxylase kinase|hydroxymethylglutaryl-CoA reductase kinase 20141207 9606 5564 PRKAB1 - AMPK|HAMPKb MIM:602740|HGNC:HGNC:9378|Ensembl:ENSG00000111725|HPRD:04116|Vega:OTTHUMG00000168954 12 12q24.1-q24.3 protein kinase, AMP-activated, beta 1 non-catalytic subunit protein-coding PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit O 5'-AMP-activated protein kinase beta-1 subunit|5'-AMP-activated protein kinase subunit beta-1|AMP-activated protein kinase beta subunit|AMPK beta -1 chain|AMPK beta 1|AMPK subunit beta-1|AMPKb|protein kinase, AMP-activated, noncatalytic, beta-1 20141207 9606 5565 PRKAB2 - - MIM:602741|HGNC:HGNC:9379|Ensembl:ENSG00000131791|HPRD:04117|Vega:OTTHUMG00000014032 1 1q21.1 protein kinase, AMP-activated, beta 2 non-catalytic subunit protein-coding PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit O 5'-AMP-activated protein kinase subunit beta-2|5'-AMP-activated protein kinase, beta-2 subunit|AMP-activated protein kinase beta 2 non-catalytic subunit|AMPK beta 2|AMPK beta-2 chain|AMPK subunit beta-2 20141207 9606 5566 PRKACA - PKACA MIM:601639|HGNC:HGNC:9380|Ensembl:ENSG00000072062|HPRD:03382|Vega:OTTHUMG00000182051 19 19p13.1 protein kinase, cAMP-dependent, catalytic, alpha protein-coding PRKACA protein kinase, cAMP-dependent, catalytic, alpha O PKA C-alpha|cAMP-dependent protein kinase catalytic subunit alpha|protein kinase A catalytic subunit 20141207 9606 5567 PRKACB RP11-82H13.1 PKA C-beta|PKACB MIM:176892|HGNC:HGNC:9381|Ensembl:ENSG00000142875|HPRD:01482|Vega:OTTHUMG00000009975 1 1p31.1 protein kinase, cAMP-dependent, catalytic, beta protein-coding PRKACB protein kinase, cAMP-dependent, catalytic, beta O cAMP-dependent protein kinase catalytic beta subunit isoform 4ab|cAMP-dependent protein kinase catalytic subunit beta|protein kinase A catalytic subunit beta 20141207 9606 5568 PRKACG - KAPG|PKACg MIM:176893|HGNC:HGNC:9382|Ensembl:ENSG00000165059|HPRD:01483|Vega:OTTHUMG00000019974 9 9q13 protein kinase, cAMP-dependent, catalytic, gamma protein-coding PRKACG protein kinase, cAMP-dependent, catalytic, gamma O PKA C-gamma|cAMP-dependent protein kinase catalytic subunit gamma|serine(threonine) protein kinase 20141207 9606 5573 PRKAR1A - ACRDYS1|ADOHR|CAR|CNC|CNC1|PKR1|PPNAD1|PRKAR1|TSE1 MIM:188830|HGNC:HGNC:9388|Ensembl:ENSG00000108946|HPRD:01786|Vega:OTTHUMG00000180128 17 17q24.2 protein kinase, cAMP-dependent, regulatory, type I, alpha protein-coding PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha O Carney complex type 1|cAMP-dependent protein kinase regulatory subunit RIalpha|cAMP-dependent protein kinase type I-alpha regulatory chain|cAMP-dependent protein kinase type I-alpha regulatory subunit|protein kinase A type 1a regulatory subunit|tissue-specific extinguisher 1 20141219 9606 5575 PRKAR1B - PRKAR1 MIM:176911|HGNC:HGNC:9390|Ensembl:ENSG00000188191|HPRD:01485|Vega:OTTHUMG00000151411 7 7p22 protein kinase, cAMP-dependent, regulatory, type I, beta protein-coding PRKAR1B protein kinase, cAMP-dependent, regulatory, type I, beta O cAMP-dependent protein kinase type I-beta regulatory subunit 20141207 9606 5576 PRKAR2A - PKR2|PRKAR2 MIM:176910|HGNC:HGNC:9391|Ensembl:ENSG00000114302|HPRD:01484|Vega:OTTHUMG00000133540 3 3p21.3-p21.2 protein kinase, cAMP-dependent, regulatory, type II, alpha protein-coding PRKAR2A protein kinase, cAMP-dependent, regulatory, type II, alpha O cAMP-dependent protein kinase regulatory subunit RII alpha|cAMP-dependent protein kinase type II-alpha regulatory subunit|protein kinase A, RII-alpha subunit 20141207 9606 5577 PRKAR2B - PRKAR2|RII-BETA MIM:176912|HGNC:HGNC:9392|Ensembl:ENSG00000005249|HPRD:01486|Vega:OTTHUMG00000137418 7 7q22 protein kinase, cAMP-dependent, regulatory, type II, beta protein-coding PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta O H_RG363E19.2|WUGSC:H_RG363E19.2|cAMP-dependent protein kinase type II-beta regulatory chain|cAMP-dependent protein kinase type II-beta regulatory subunit 20141207 9606 5578 PRKCA - AAG6|PKC-alpha|PKCA|PRKACA MIM:176960|HGNC:HGNC:9393|Ensembl:ENSG00000154229|HPRD:01498|Vega:OTTHUMG00000179533 17 17q22-q23.2 protein kinase C, alpha protein-coding PRKCA protein kinase C, alpha O PKC-A|aging-associated gene 6|protein kinase C alpha type 20141222 9606 5580 PRKCD - ALPS3|CVID9|MAY1|PKCD|nPKC-delta MIM:176977|HGNC:HGNC:9399|Ensembl:ENSG00000163932|HPRD:01501|Vega:OTTHUMG00000133659 3 3p21.31 protein kinase C, delta protein-coding PRKCD protein kinase C, delta O protein kinase C delta VIII|protein kinase C delta type|tyrosine-protein kinase PRKCD 20141222 9606 5587 PRKD1 - PKC-MU|PKCM|PKD|PRKCM MIM:605435|HGNC:HGNC:9407|Ensembl:ENSG00000184304|HPRD:05668|Vega:OTTHUMG00000140203 14 14q11 protein kinase D1 protein-coding PRKD1 protein kinase D1 O nPKC-D1|nPKC-mu|protein kinase C mu type|protein kinase C, mu|protein kinase D|serine/threonine-protein kinase D1 20141207 9606 5589 PRKCSH - AGE-R2|G19P1|PCLD|PKCSH|PLD1 MIM:177060|HGNC:HGNC:9411|Ensembl:ENSG00000130175|HPRD:03518|Vega:OTTHUMG00000182029 19 19p13.2 protein kinase C substrate 80K-H protein-coding PRKCSH protein kinase C substrate 80K-H O AGE-binding receptor 2|glucosidase 2 subunit beta|glucosidase II subunit beta|hepatocystin|protein kinase C substrate 60.1 kDa protein heavy chain|protein kinase C substrate, 80 Kda protein 20141207 9606 5600 MAPK11 - P38B|P38BETA2|PRKM11|SAPK2|SAPK2B|p38-2|p38Beta MIM:602898|HGNC:HGNC:6873|Ensembl:ENSG00000185386|HPRD:04208|Vega:OTTHUMG00000150226 22 22q13.33 mitogen-activated protein kinase 11 protein-coding MAPK11 mitogen-activated protein kinase 11 O MAP kinase 11|MAP kinase p38 beta|mitogen-activated protein kinase p38 beta|mitogen-activated protein kinase p38-2|stress-activated protein kinase-2|stress-activated protein kinase-2b 20141222 9606 5624 PROC - APC|PC|PROC1|THPH3|THPH4 MIM:612283|HGNC:HGNC:9451|Ensembl:ENSG00000115718|HPRD:01466|Vega:OTTHUMG00000131528 2 2q13-q14 protein C (inactivator of coagulation factors Va and VIIIa) protein-coding PROC protein C (inactivator of coagulation factors Va and VIIIa) O anticoagulant protein C|autoprothrombin IIA|blood coagulation factor XIV|prepro-protein C|vitamin K-dependent protein C 20141207 9606 5625 PRODH - HSPOX2|PIG6|POX|PRODH1|PRODH2|TP53I6 MIM:606810|HGNC:HGNC:9453|Ensembl:ENSG00000100033|HPRD:08433|Vega:OTTHUMG00000150163 22 22q11.21 proline dehydrogenase (oxidase) 1 protein-coding PRODH proline dehydrogenase (oxidase) 1 O p53-induced gene 6 protein|proline dehydrogenase 1, mitochondrial|proline oxidase 2|proline oxidase, mitochondrial|tumor protein p53 inducible protein 6 20141211 9606 5627 PROS1 - PROS|PS21|PS22|PS23|PS24|PS25|PSA|THPH5|THPH6 MIM:176880|HGNC:HGNC:9456|Ensembl:ENSG00000184500|HPRD:01473|Vega:OTTHUMG00000150354 3 3q11.2 protein S (alpha) protein-coding PROS1 protein S (alpha) O protein Sa|vitamin K-dependent plasma protein S|vitamin K-dependent protein S 20141207 9606 5631 PRPS1 RP11-540N4.1 ARTS|CMTX5|DFN2|DFNX1|PPRibP|PRS-I|PRSI MIM:311850|HGNC:HGNC:9462|Ensembl:ENSG00000147224|HPRD:02413|Vega:OTTHUMG00000022167 X Xq22.3 phosphoribosyl pyrophosphate synthetase 1 protein-coding PRPS1 phosphoribosyl pyrophosphate synthetase 1 O dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)|deafness 2, perceptive, congenital|deafness, X-linked 2, perceptive, congenital|phosphoribosyl pyrophosphate synthase I|ribose-phosphate diphosphokinase 1|ribose-phosphate pyrophosphokinase 1 20141219 9606 5634 PRPS2 - PRSII MIM:311860|HGNC:HGNC:9465|Ensembl:ENSG00000101911|HPRD:02414|Vega:OTTHUMG00000021139 X Xp22.2 phosphoribosyl pyrophosphate synthetase 2 protein-coding PRPS2 phosphoribosyl pyrophosphate synthetase 2 O PPRibP synthetase|PRS-II|phosphoribosyl pyrophosphate synthase II|ribose-phosphate diphosphokinase 2|ribose-phosphate pyrophosphokinase 2 20141207 9606 5641 LGMN - AEP|LGMN1|PRSC1 MIM:602620|HGNC:HGNC:9472|Ensembl:ENSG00000100600|HPRD:04017|Vega:OTTHUMG00000171199 14 14q32.1 legumain protein-coding LGMN legumain O asparaginyl endopeptidase|cysteine protease 1|protease, cysteine 1|protease, cysteine, 1 (legumain) 20141207 9606 5660 PSAP - GLBA|SAP1 MIM:176801|HGNC:HGNC:9498|Ensembl:ENSG00000197746|HPRD:01460|Vega:OTTHUMG00000018429 10 10q21-q22 prosaposin protein-coding PSAP prosaposin O proactivator polypeptide|sphingolipid activator protein-1 20141207 9606 5682 PSMA1 - HC2|HEL-S-275|NU|PROS30 MIM:602854|HGNC:HGNC:9530|Ensembl:ENSG00000129084|HPRD:04170|Vega:OTTHUMG00000165825 11 11p15.1 proteasome (prosome, macropain) subunit, alpha type, 1 protein-coding PSMA1 proteasome (prosome, macropain) subunit, alpha type, 1 O 30 kDa prosomal protein|PROS-30|epididymis secretory protein Li 275|macropain subunit C2|macropain subunit nu|multicatalytic endopeptidase complex subunit C2|proteasome component C2|proteasome nu chain|proteasome subunit alpha type-1|proteasome subunit nu|proteasome subunit, alpha-type, 1|protein P30-33K 20141207 9606 5683 PSMA2 - HC3|MU|PMSA2|PSC2 MIM:176842|HGNC:HGNC:9531|Ensembl:ENSG00000106588|HPRD:08907|Vega:OTTHUMG00000023916 7 7p13 proteasome (prosome, macropain) subunit, alpha type, 2 protein-coding PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 O macropain subunit C3|multicatalytic endopeptidase complex subunit C3|proteasome component C3|proteasome subunit HC3|proteasome subunit alpha type-2 20141207 9606 5684 PSMA3 - HC8|PSC3 MIM:176843|HGNC:HGNC:9532|Ensembl:ENSG00000100567|HPRD:01463|Vega:OTTHUMG00000140319 14 14q23 proteasome (prosome, macropain) subunit, alpha type, 3 protein-coding PSMA3 proteasome (prosome, macropain) subunit, alpha type, 3 O macropain subunit C8|multicatalytic endopeptidase complex subunit C8|proteasome component C8|proteasome subunit C8|proteasome subunit alpha type-3 20141207 9606 5685 PSMA4 - HC9|HsT17706|PSC9 MIM:176846|HGNC:HGNC:9533|Ensembl:ENSG00000041357|HPRD:10168|Vega:OTTHUMG00000143859 15 15q25.1 proteasome (prosome, macropain) subunit, alpha type, 4 protein-coding PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 O macropain subunit C9|multicatalytic endopeptidase complex subunit C9|proteasome component C9|proteasome subunit HC9|proteasome subunit L|proteasome subunit alpha type-4 20141207 9606 5686 PSMA5 - PSC5|ZETA MIM:176844|HGNC:HGNC:9534|Ensembl:ENSG00000143106|HPRD:01464|Vega:OTTHUMG00000012001 1 1p13 proteasome (prosome, macropain) subunit, alpha type, 5 protein-coding PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5 O macropain subunit zeta|macropain zeta chain|multicatalytic endopeptidase complex zeta chain|proteasome alpha 5 subunit|proteasome component 5|proteasome subunit alpha type-5|proteasome subunit zeta|proteasome zeta chain 20141207 9606 5687 PSMA6 - IOTA|PROS27|p27K MIM:602855|HGNC:HGNC:9535|Ensembl:ENSG00000100902|HPRD:04171|Vega:OTTHUMG00000140221 14 14q13 proteasome (prosome, macropain) subunit, alpha type, 6 protein-coding PSMA6 proteasome (prosome, macropain) subunit, alpha type, 6 O 27 kDa prosomal protein|PROS-27|macropain iota chain|macropain subunit iota|multicatalytic endopeptidase complex iota chain|prosomal P27K protein|proteasome iota chain|proteasome subunit alpha type-6|proteasome subunit iota 20141207 9606 5688 PSMA7 RP5-1005F21.4 C6|HSPC|RC6-1|XAPC7 MIM:606607|HGNC:HGNC:9536|Ensembl:ENSG00000101182|HPRD:05967|Vega:OTTHUMG00000032895 20 20q13.33 proteasome (prosome, macropain) subunit, alpha type, 7 protein-coding PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 O proteasome subunit RC6-1|proteasome subunit XAPC7|proteasome subunit alpha 4|proteasome subunit alpha type-7 20141207 9606 5689 PSMB1 - HC5|PMSB1|PSC5 MIM:602017|HGNC:HGNC:9537|Ensembl:ENSG00000008018|HPRD:03603|Vega:OTTHUMG00000016087 6 6q27 proteasome (prosome, macropain) subunit, beta type, 1 protein-coding PSMB1 proteasome (prosome, macropain) subunit, beta type, 1 O macropain subunit C5|multicatalytic endopeptidase complex subunit C5|proteasome beta 1 subunit|proteasome component C5|proteasome gamma chain|proteasome subunit HC5|proteasome subunit beta type-1 20141207 9606 5690 PSMB2 RP5-983H21.1 HC7-I MIM:602175|HGNC:HGNC:9539|Ensembl:ENSG00000126067|HPRD:03708 1 1p34.2 proteasome (prosome, macropain) subunit, beta type, 2 protein-coding PSMB2 proteasome (prosome, macropain) subunit, beta type, 2 O macropain subunit C7-I|multicatalytic endopeptidase complex subunit C7-1|multicatalytic endopeptidase complex subunit C7-I|proteasome beta 2 subunit|proteasome component C7-I|proteasome subunit beta type-2|proteasome subunit, beta type, 2 20141207 9606 5691 PSMB3 - HC10-II MIM:602176|HGNC:HGNC:9540|Ensembl:ENSG00000277791|HPRD:03709|Vega:OTTHUMG00000188503 17 17q12 proteasome (prosome, macropain) subunit, beta type, 3 protein-coding PSMB3 proteasome (prosome, macropain) subunit, beta type, 3 O proteasome chain 13|proteasome component C10-II|proteasome subunit beta type-3|proteasome theta chain 20141207 9606 5692 PSMB4 - HN3|HsN3|PROS-26|PROS26 MIM:602177|HGNC:HGNC:9541|Ensembl:ENSG00000159377|HPRD:03710|Vega:OTTHUMG00000012494 1 1q21 proteasome (prosome, macropain) subunit, beta type, 4 protein-coding PSMB4 proteasome (prosome, macropain) subunit, beta type, 4 O 26 kDa prosomal protein|hsBPROS26|macropain beta chain|multicatalytic endopeptidase complex beta chain|proteasome beta chain|proteasome chain 3|proteasome subunit HsN3|proteasome subunit beta type-4|proteasome subunit, beta type, 4 20141207 9606 5693 PSMB5 - LMPX|MB1|X MIM:600306|HGNC:HGNC:9542|Ensembl:ENSG00000100804|HPRD:02629|Vega:OTTHUMG00000028713 14 14q11.2 proteasome (prosome, macropain) subunit, beta type, 5 protein-coding PSMB5 proteasome (prosome, macropain) subunit, beta type, 5 O PSX large multifunctional protease X|macropain epsilon chain|multicatalytic endopeptidase complex epsilon chain|proteasome beta 5 subunit|proteasome catalytic subunit 3|proteasome chain 6|proteasome epsilon chain|proteasome subunit MB1|proteasome subunit X|proteasome subunit beta type-5|proteasome subunit, beta type, 5 20141207 9606 5694 PSMB6 - DELTA|LMPY|Y MIM:600307|HGNC:HGNC:9543|Ensembl:ENSG00000142507|HPRD:02630|Vega:OTTHUMG00000090777 17 17p13 proteasome (prosome, macropain) subunit, beta type, 6 protein-coding PSMB6 proteasome (prosome, macropain) subunit, beta type, 6 O PSY large multifunctional protease Y|macropain delta chain|multicatalytic endopeptidase complex delta chain|proteasome catalytic subunit 1|proteasome delta chain|proteasome subunit Y|proteasome subunit beta type-6|proteasome subunit delta 20141207 9606 5695 PSMB7 RP11-101K10.7 Z MIM:604030|HGNC:HGNC:9544|Ensembl:ENSG00000136930|HPRD:04940|Vega:OTTHUMG00000021042 9 9q34.11-q34.12 proteasome (prosome, macropain) subunit, beta type, 7 protein-coding PSMB7 proteasome (prosome, macropain) subunit, beta type, 7 O macropain chain Z|multicatalytic endopeptidase complex chain Z|proteasome catalytic subunit 2|proteasome subunit Z|proteasome subunit alpha|proteasome subunit beta type-7 20141207 9606 5696 PSMB8 DAAP-57C1.3 ALDD|D6S216|D6S216E|JMP|LMP7|NKJO|PSMB5i|RING10 MIM:177046|HGNC:HGNC:9545|Ensembl:ENSG00000204264|HPRD:01515|Vega:OTTHUMG00000031285 6 6p21.3 proteasome (prosome, macropain) subunit, beta type, 8 protein-coding PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 O large multifunctional peptidase 7|low molecular mass protein 7|low molecular weight protein 7|macropain subunit C13|multicatalytic endopeptidase complex subunit C13|protease component C13|proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)|proteasome catalytic subunit 3i|proteasome component C13|proteasome subunit Y2|proteasome subunit beta 5i|proteasome subunit beta type-8|proteasome-related gene 7|really interesting new gene 10 protein 20141207 9606 5698 PSMB9 DADB-223G19.3 LMP2|PSMB6i|RING12|beta1i MIM:177045|HGNC:HGNC:9546|HPRD:01514 6 6p21.3 proteasome (prosome, macropain) subunit, beta type, 9 protein-coding PSMB9 proteasome (prosome, macropain) subunit, beta type, 9 O large multifunctional peptidase 2|low molecular mass protein 2|macropain chain 7|multicatalytic endopeptidase complex chain 7|proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)|proteasome catalytic subunit 1i|proteasome chain 7|proteasome subunit beta 6i|proteasome subunit beta type-9|proteasome subunit beta-1i|proteasome-related gene 2|really interesting new gene 12 protein 20141207 9606 5699 PSMB10 - LMP10|MECL1|beta2i MIM:176847|HGNC:HGNC:9538|Ensembl:ENSG00000205220|HPRD:01465|Vega:OTTHUMG00000137553 16 16q22.1 proteasome (prosome, macropain) subunit, beta type, 10 protein-coding PSMB10 proteasome (prosome, macropain) subunit, beta type, 10 O low molecular mass protein 10|macropain subunit MECl-1|multicatalytic endopeptidase complex subunit MECl-1|proteasome MECl-1|proteasome catalytic subunit 2i|proteasome subunit MECL1|proteasome subunit beta 7i|proteasome subunit beta type-10|proteasome subunit beta-2i 20141207 9606 5700 PSMC1 - P26S4|S4|p56 MIM:602706|HGNC:HGNC:9547|Ensembl:ENSG00000100764|HPRD:04084|Vega:OTTHUMG00000171019 14 14q32.11 proteasome (prosome, macropain) 26S subunit, ATPase, 1 protein-coding PSMC1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 O 26S protease regulatory subunit 4|26S proteasome AAA-ATPase subunit RPT2|proteasome 26S ATPase subunit 1|proteasome 26S subunit ATPase 1|proteasome 26S subunit, ATPase, 1 20141207 9606 5701 PSMC2 - MSS1|Nbla10058|S7 MIM:154365|HGNC:HGNC:9548|Ensembl:ENSG00000161057|HPRD:01105|Vega:OTTHUMG00000157206 7 7q22.1-q22.3 proteasome (prosome, macropain) 26S subunit, ATPase, 2 protein-coding PSMC2 proteasome (prosome, macropain) 26S subunit, ATPase, 2 O 26S protease regulatory subunit 7|26S proteasome AAA-ATPase subunit RPT1|mammalian suppressor of sgv-1 of yeast|protease 26S subunit 7|proteasome 26S subunit ATPase 2|proteasome 26S subunit, ATPase, 2|putative protein product of Nbla10058 20141207 9606 5702 PSMC3 - TBP1 MIM:186852|HGNC:HGNC:9549|Ensembl:ENSG00000165916|HPRD:01733|Vega:OTTHUMG00000167692 11 11p11.2 proteasome (prosome, macropain) 26S subunit, ATPase, 3 protein-coding PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 O 26S protease regulatory subunit 6A|26S proteasome AAA-ATPase subunit RPT5|TBP-1|Tat-binding protein 1|human immunodeficiency virus tat transactivator binding protein-1|proteasome 26S subunit ATPase 3|proteasome subunit P50 20141207 9606 5704 PSMC4 - MIP224|RPT3|S6|TBP-7|TBP7 MIM:602707|HGNC:HGNC:9551|Ensembl:ENSG00000013275|HPRD:04085|Vega:OTTHUMG00000182577 19 19q13.11-q13.13 proteasome (prosome, macropain) 26S subunit, ATPase, 4 protein-coding PSMC4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 O 26S protease regulatory subunit 6B|26S proteasome AAA-ATPase subunit RPT3|MB67-interacting protein|Tat-binding protein 7|protease 26S subunit 6 20141207 9606 5705 PSMC5 - S8|SUG-1|SUG1|TBP10|TRIP1|p45|p45/SUG MIM:601681|HGNC:HGNC:9552|Ensembl:ENSG00000087191|HPRD:03400|Vega:OTTHUMG00000179013 17 17q23.3 proteasome (prosome, macropain) 26S subunit, ATPase, 5 protein-coding PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5 O 26S protease regulatory subunit 8|26S proteasome AAA-ATPase subunit RPT6|MSUG1 protein|Tat-binding protein homolog 10|proteasome 26S ATPase subunit 5|proteasome 26S subunit ATPase 5|proteasome subunit p45|thyroid hormone receptor-interacting protein 1|thyroid receptor interactor 1 20141207 9606 5706 PSMC6 - CADP44|HEL-S-73|P44|SUG2|p42 MIM:602708|HGNC:HGNC:9553|Ensembl:ENSG00000100519|HPRD:04086|Vega:OTTHUMG00000152333 14 14q22.1 proteasome (prosome, macropain) 26S subunit, ATPase, 6 protein-coding PSMC6 proteasome (prosome, macropain) 26S subunit, ATPase, 6 O 26S protease regulatory subunit 10B|26S protease regulatory subunit S10B|26S proteasome AAA-ATPase subunit RPT4|conserved ATPase domain protein 44|epididymis secretory protein Li 73|proteasome 26S subunit ATPase 6|proteasome subunit p42 20141207 9606 5707 PSMD1 - P112|Rpn2|S1 HGNC:HGNC:9554|Ensembl:ENSG00000173692|HPRD:10169|Vega:OTTHUMG00000133223 2 2q37.1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 protein-coding PSMD1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 O 26S proteasome non-ATPase regulatory subunit 1|26S proteasome regulatory subunit RPN2|26S proteasome regulatory subunit S1|26S proteasome subunit p112 20141207 9606 5708 PSMD2 - P97|RPN1|S2|TRAP2 MIM:606223|HGNC:HGNC:9559|Ensembl:ENSG00000175166|HPRD:05870|Vega:OTTHUMG00000156796 3 3q27.1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 protein-coding PSMD2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 O 26S proteasome non-ATPase regulatory subunit 2|55.11 protein|TNFR-associated protein 2|protein 55.11|tumor necrosis factor type 1 receptor-associated protein 2 20141207 9606 5709 PSMD3 - P58|RPN3|S3|TSTA2 HGNC:HGNC:9560|Ensembl:ENSG00000108344|HPRD:10170|Vega:OTTHUMG00000133251 17 17q21.1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 protein-coding PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 O 26S proteasome non-ATPase regulatory subunit 3|26S proteasome regulatory subunit RPN3|26S proteasome regulatory subunit S3|proteasome subunit p58|tissue specific transplantation antigen 2 20141207 9606 5710 PSMD4 RP11-126K1.1 AF|AF-1|ASF|MCB1|Rpn10|S5A|pUB-R5 MIM:601648|HGNC:HGNC:9561|Ensembl:ENSG00000159352|HPRD:03386|Vega:OTTHUMG00000012349 1 1q21.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 protein-coding PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 O 26S proteasome non-ATPase regulatory subunit 4|26S proteasome regulatory subunit S5A|S5a/antisecretory factor protein|angiocidin|antisecretory factor 1|multiubiquitin chain-binding protein 20141207 9606 5711 PSMD5 RP11-27I1.5 S5B MIM:604452|HGNC:HGNC:9563|Ensembl:ENSG00000095261|HPRD:05121|Vega:OTTHUMG00000020573 9 9q33.2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 protein-coding PSMD5 proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 O 26S protease subunit S5 basic|26S proteasome non-ATPase regulatory subunit 5|26S proteasome subunit S5B 20141207 9606 5713 PSMD7 - MOV34|P40|Rpn8|S12 MIM:157970|HGNC:HGNC:9565|Ensembl:ENSG00000103035|HPRD:01147|Vega:OTTHUMG00000137601 16 16q22.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 protein-coding PSMD7 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 O 26S proteasome non-ATPase regulatory subunit 7|26S proteasome regulatory subunit S12|26S proteasome regulatory subunit rpn8|Moloney leukemia virus-34 proviral integration|Mov34 homolog|proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)|proteasome subunit p40 20141207 9606 5714 PSMD8 - HEL-S-91n|HIP6|HYPF|Nin1p|Rpn12|S14|p31 HGNC:HGNC:9566|Ensembl:ENSG00000099341|HPRD:10171|Vega:OTTHUMG00000150691 19 19q13.2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 protein-coding PSMD8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 O 26S proteasome non-ATPase regulatory subunit 8|26S proteasome regulatory subunit RPN12|26S proteasome regulatory subunit S14|26S proteasome regulatory subunit p31|epididymis secretory sperm binding protein Li 91n 20141207 9606 5715 PSMD9 - Rpn4|p27 MIM:603146|HGNC:HGNC:9567|Ensembl:ENSG00000110801|HPRD:04394|Vega:OTTHUMG00000168945 12 12q24.31-q24.32 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 protein-coding PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 O 26S proteasome non-ATPase regulatory subunit 9|26S proteasome regulatory subunit p27|homolog of rat Bridge 1|proteasome 26S non-ATPase regulatory subunit 9 20141207 9606 5716 PSMD10 RP5-889N15.3 dJ889N15.2|p28|p28(GANK) MIM:300880|HGNC:HGNC:9555|Ensembl:ENSG00000101843|HPRD:04594|Vega:OTTHUMG00000022177 X Xq22.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 protein-coding PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 O 26S proteasome non-ATPase regulatory subunit 10|26S proteasome regulatory subunit p28|ankyrin repeat protein|gankyrin|hepatocellular carcinoma-associated protein p28-II 20141207 9606 5717 PSMD11 - Rpn6|S9|p44.5 MIM:604449|HGNC:HGNC:9556|Ensembl:ENSG00000108671|HPRD:05119|Vega:OTTHUMG00000132811 17 17q11.2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 protein-coding PSMD11 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 O 26S proteasome non-ATPase regulatory subunit 11|26S proteasome regulatory subunit 9|26S proteasome regulatory subunit RPN6|26S proteasome regulatory subunit S9|26S proteasome regulatory subunit p44.5 20141207 9606 5718 PSMD12 - Rpn5|p55 MIM:604450|HGNC:HGNC:9557|HPRD:05120 17 17q24.2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 protein-coding PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 O 26S proteasome non-ATPase regulatory subunit 12|26S proteasome regulatory subunit RPN5|26S proteasome regulatory subunit p55 20141207 9606 5719 PSMD13 - HSPC027|Rpn9|S11|p40.5 MIM:603481|HGNC:HGNC:9558|Ensembl:ENSG00000185627|HPRD:04595|Vega:OTTHUMG00000119072 11 11p15.5 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 protein-coding PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 O 26S proteasome non-ATPase regulatory subunit 13|26S proteasome regulatory subunit RPN9|26S proteasome regulatory subunit S11|26S proteasome regulatory subunit p40.5|26S proteasome subunit p40.5 20141207 9606 5720 PSME1 - IFI5111|PA28A|PA28alpha|REGalpha MIM:600654|HGNC:HGNC:9568|Ensembl:ENSG00000092010|HPRD:02803|Vega:OTTHUMG00000028795 14 14q11.2 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) protein-coding PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) O 11S regulator complex subunit alpha|29-kD MCP activator subunit|IGUP I-5111|activator of multicatalytic protease subunit 1|interferon gamma up-regulated I-5111 protein|interferon-gamma IEF SSP 5111|interferon-gamma-inducible protein 5111|proteasome activator complex subunit 1 20141207 9606 5721 PSME2 - PA28B|PA28beta|REGbeta MIM:602161|HGNC:HGNC:9569|Ensembl:ENSG00000100911|HPRD:03697|Vega:OTTHUMG00000028797 14 14q11.2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) protein-coding PSME2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) O 11S regulator complex beta subunit|11S regulator complex subunit beta|MCP activator, 31-kD subunit|REG-beta|activator of multicatalytic protease subunit 2|cell migration-inducing protein 22|proteasome activator 28 subunit beta|proteasome activator 28-beta|proteasome activator complex subunit 2|proteasome activator hPA28 subunit beta 20141207 9606 5723 PSPH - PSP|PSPHD MIM:172480|HGNC:HGNC:9577|Ensembl:ENSG00000146733|HPRD:01406|Vega:OTTHUMG00000023441 7 7p11.2 phosphoserine phosphatase protein-coding PSPH phosphoserine phosphatase O L-3-phosphoserine phosphatase|O-phosphoserine phosphohydrolase|PSPase 20141211 9606 5728 PTEN - 10q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|TEP1 MIM:601728|HGNC:HGNC:9588|HPRD:03431 10 10q23.3 phosphatase and tensin homolog protein-coding PTEN phosphatase and tensin homolog O MMAC1 phosphatase and tensin homolog deleted on chromosome 10|mitochondrial PTENalpha|mitochondrial phosphatase and tensin protein alpha|mutated in multiple advanced cancers 1|phosphatase and tensin-like protein|phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 20141222 9606 5730 PTGDS RP11-229P13.6 L-PGDS|LPGDS|PDS|PGD2|PGDS|PGDS2 MIM:176803|HGNC:HGNC:9592|Ensembl:ENSG00000107317|HPRD:08904|Vega:OTTHUMG00000020957 9 9q34.2-q34.3 prostaglandin D2 synthase 21kDa (brain) protein-coding PTGDS prostaglandin D2 synthase 21kDa (brain) O PGD2 synthase|beta-trace protein|cerebrin-28|glutathione-independent PGD synthase|glutathione-independent PGD synthetase|lipocalin-type prostaglandin D synthase|lipocalin-type prostaglandin-D synthase|prostaglandin D synthase|prostaglandin-D2 synthase|prostaglandin-H2 D-isomerase 20141207 9606 5740 PTGIS - CYP8|CYP8A1|PGIS|PTGI MIM:601699|HGNC:HGNC:9603|Ensembl:ENSG00000124212|HPRD:09046|Vega:OTTHUMG00000033077 20 20q13.13 prostaglandin I2 (prostacyclin) synthase protein-coding PTGIS prostaglandin I2 (prostacyclin) synthase O cytochrome P450, family 8, subfamily A, polypeptide 1|prostacyclin synthase|prostaglandin I2 synthase 20141207 9606 5742 PTGS1 RP11-542K23.6 COX1|COX3|PCOX1|PES-1|PGG/HS|PGHS-1|PGHS1|PHS1|PTGHS MIM:176805|HGNC:HGNC:9604|Ensembl:ENSG00000095303|HPRD:07518|Vega:OTTHUMG00000020605 9 9q32-q33.3 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) protein-coding PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) O PGH synthase 1|cyclooxygenase-1|prostaglandin G/H synthase 1|prostaglandin H2 synthase 1 20141207 9606 5743 PTGS2 - COX-2|COX2|GRIPGHS|PGG/HS|PGHS-2|PHS-2|hCox-2 MIM:600262|HGNC:HGNC:9605|Ensembl:ENSG00000073756|HPRD:02599|Vega:OTTHUMG00000035473 1 1q25.2-q25.3 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) protein-coding PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) O PGH synthase 2|PHS II|cyclooxygenase 2b|prostaglandin G/H synthase 2|prostaglandin H2 synthase 2 20141222 9606 5831 PYCR1 - ARCL2B|ARCL3B|P5C|P5CR|PIG45|PP222|PRO3|PYCR MIM:179035|HGNC:HGNC:9721|Ensembl:ENSG00000183010|HPRD:01528|Vega:OTTHUMG00000178436 17 17q25.3 pyrroline-5-carboxylate reductase 1 protein-coding PYCR1 pyrroline-5-carboxylate reductase 1 O P5C reductase 1|proliferation-inducing protein 45|pyrroline-5-carboxylate reductase 1, mitochondrial 20141207 9606 5832 ALDH18A1 - ARCL3A|GSAS|P5CS|PYCS MIM:138250|HGNC:HGNC:9722|Ensembl:ENSG00000059573|HPRD:00696|Vega:OTTHUMG00000018815 10 10q24.3 aldehyde dehydrogenase 18 family, member A1 protein-coding ALDH18A1 aldehyde dehydrogenase 18 family, member A1 O aldehyde dehydrogenase family 18 member A1|delta-1-pyrroline-5-carboxylate synthase|delta-1-pyrroline-5-carboxylate synthetase|delta1-pyrroline-5-carboxlate synthetase|pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) 20141211 9606 5833 PCYT2 - ET MIM:602679|HGNC:HGNC:8756|HPRD:04059 17 17q25.3 phosphate cytidylyltransferase 2, ethanolamine protein-coding PCYT2 phosphate cytidylyltransferase 2, ethanolamine O CTP:phosphoethanolamine cytidylyltransferase|ethanolamine-phosphate cytidylyltransferase|phosphorylethanolamine transferase 20141207 9606 5834 PYGB RP5-965G21.1 GPBB MIM:138550|HGNC:HGNC:9723|Ensembl:ENSG00000100994|HPRD:00720|Vega:OTTHUMG00000032117 20 20p11.21 phosphorylase, glycogen; brain protein-coding PYGB phosphorylase, glycogen; brain O glycogen phosphorylase B|glycogen phosphorylase, brain form 20141207 9606 5836 PYGL - GSD6 MIM:613741|HGNC:HGNC:9725|Ensembl:ENSG00000100504|HPRD:01987|Vega:OTTHUMG00000166596 14 14q21-q22 phosphorylase, glycogen, liver protein-coding PYGL phosphorylase, glycogen, liver O glycogen phosphorylase, liver form 20141219 9606 5837 PYGM - - MIM:608455|HGNC:HGNC:9726|Ensembl:ENSG00000068976|HPRD:01986|Vega:OTTHUMG00000066835 11 11q12-q13.2 phosphorylase, glycogen, muscle protein-coding PYGM phosphorylase, glycogen, muscle O glycogen phosphorylase, muscle form|myophosphorylase 20141219 9606 5860 QDPR - DHPR|PKU2|SDR33C1 MIM:612676|HGNC:HGNC:9752|Ensembl:ENSG00000151552|HPRD:02025|Vega:OTTHUMG00000128537 4 4p15.31 quinoid dihydropteridine reductase protein-coding QDPR quinoid dihydropteridine reductase O 6,7-dihydropteridine reductase|HDHPR|dihydropteridine reductase|short chain dehydrogenase/reductase family 33C, member 1 20141207 9606 5903 RANBP2 - ADANE|ANE1|IIAE3|NUP358|TRP1|TRP2 MIM:601181|HGNC:HGNC:9848|Ensembl:ENSG00000153201|HPRD:03111|Vega:OTTHUMG00000130981 2 2q12.3 RAN binding protein 2 protein-coding RANBP2 RAN binding protein 2 O 358 kDa nucleoporin|E3 SUMO-protein ligase RanBP2|P270|acute necrotizing encephalopathy 1 (autosomal dominant)|nuclear pore complex protein Nup358|nucleoporin 358|nucleoporin Nup358|ran-binding protein 2|transformation-related protein 2 20141218 9606 5906 RAP1A - C21KG|G-22K|KREV-1|KREV1|RAP1|SMGP21 MIM:179520|HGNC:HGNC:9855|HPRD:01545 1 1p13.3 RAP1A, member of RAS oncogene family protein-coding RAP1A RAP1A, member of RAS oncogene family O GTP-binding protein smg p21A|Ras-related protein Krev-1|ras-related protein Rap-1A 20141207 9606 5908 RAP1B OK/SW-cl.11 K-REV|RAL1B MIM:179530|HGNC:HGNC:9857|Ensembl:ENSG00000127314|HPRD:01546|Vega:OTTHUMG00000133660 12 12q14 RAP1B, member of RAS oncogene family protein-coding RAP1B RAP1B, member of RAS oncogene family O GTP-binding protein smg p21B|RAS-related protein RAP1B|Ras family small GTP binding protein RAP1B|ras-related protein Rap-1b|small GTP binding protein 20141207 9606 5948 RBP2 - CRABP-II|CRBP2|CRBPII|RBPC2 MIM:180280|HGNC:HGNC:9920|Ensembl:ENSG00000114113|HPRD:07184|Vega:OTTHUMG00000159956 3 3q23 retinol binding protein 2, cellular protein-coding RBP2 retinol binding protein 2, cellular O CRBP-II|cellular retinol-binding protein II|retinol-binding protein 2|retinol-binding protein 2, cellular 20141222 9606 5959 RDH5 - 9cRDH|HSD17B9|RDH1|SDR9C5 MIM:601617|HGNC:HGNC:9940|Ensembl:ENSG00000135437|HPRD:03370|Vega:OTTHUMG00000170126 12 12q13-q14 retinol dehydrogenase 5 (11-cis/9-cis) protein-coding RDH5 retinol dehydrogenase 5 (11-cis/9-cis) O 11-cis RDH|11-cis RoDH|11-cis retinol dehydrogenase|9-cis retinol dehydrogenase|9-cis-retinol specific dehydrogenase|retinol dehydrogenase 1|retinol dehydrogenase 5 (11-cis and 9-cis)|short chain dehydrogenase/reductase family 9C, member 5 20141207 9606 5973 RENBP - RBP|RNBP MIM:312420|HGNC:HGNC:9959|Ensembl:ENSG00000102032|HPRD:02423|Vega:OTTHUMG00000024224 X Xq28 renin binding protein protein-coding RENBP renin binding protein O AGE|GlcNAc 2-epimerase|N-acetyl-D-glucosamine 2-epimerase|N-acylglucosamine 2-epimerase 20141207 9606 6095 RORA - NR1F1|ROR1|ROR2|ROR3|RZR-ALPHA|RZRA MIM:600825|HGNC:HGNC:10258|Ensembl:ENSG00000069667|HPRD:02896|Vega:OTTHUMG00000132769 15 15q22.2 RAR-related orphan receptor A protein-coding RORA RAR-related orphan receptor A O ROR-alpha|nuclear receptor ROR-alpha|nuclear receptor RZR-alpha|nuclear receptor subfamily 1 group F member 1|retinoic acid receptor-related orphan receptor alpha|retinoid-related orphan receptor alpha|thyroid hormone nuclear receptor alpha variant 4|transcription factor RZR-alpha 20141222 9606 6120 RPE HUSSY-17 RPE2-1 MIM:180480|HGNC:HGNC:10293|Ensembl:ENSG00000197713|HPRD:01608 2 2q32-q33.3 ribulose-5-phosphate-3-epimerase protein-coding RPE ribulose-5-phosphate-3-epimerase O ribulose-phosphate 3-epimerase 20141211 9606 6121 RPE65 - BCO3|LCA2|RP20|mRPE65|rd12|sRPE65 MIM:180069|HGNC:HGNC:10294|Ensembl:ENSG00000116745|HPRD:01569|Vega:OTTHUMG00000009208 1 1p31 retinal pigment epithelium-specific protein 65kDa protein-coding RPE65 retinal pigment epithelium-specific protein 65kDa O BCO family, member 3|RBP-binding membrane protein|all-trans-retinyl-palmitate hydrolase|p63|retinal pigment epithelium-specific 65 kDa protein|retinitis pigmentosa 20 (autosomal recessive)|retinoid isomerohydrolase|retinol isomerase 20141222 9606 6122 RPL3 OK/SW-cl.32 ASC-1|L3|TARBP-B MIM:604163|HGNC:HGNC:10332|Ensembl:ENSG00000100316|HPRD:16042|Vega:OTTHUMG00000151079 22 22q13 ribosomal protein L3 protein-coding RPL3 ribosomal protein L3 O 60S ribosomal protein L3|HIV-1 TAR RNA-binding protein B|hypothetical protein 20141207 9606 6123 RPL3L - - HGNC:HGNC:10351|HPRD:17998 16 16p13.3 ribosomal protein L3-like protein-coding RPL3L ribosomal protein L3-like O 60S ribosomal protein L3-like 20141207 9606 6124 RPL4 - L4 MIM:180479|HGNC:HGNC:10353|HPRD:01607 15 15q22 ribosomal protein L4 protein-coding RPL4 ribosomal protein L4 O 60S ribosomal protein L1|60S ribosomal protein L4 20141207 9606 6125 RPL5 MSTP030 DBA6|L5|PPP1R135 MIM:603634|HGNC:HGNC:10360|Ensembl:ENSG00000122406|HPRD:04699|Vega:OTTHUMG00000010899 1 1p22.1 ribosomal protein L5 protein-coding RPL5 ribosomal protein L5 O 60S ribosomal protein L5|protein phosphatase 1, regulatory subunit 135 20141222 9606 6128 RPL6 - L6|SHUJUN-2|TAXREB107|TXREB1 MIM:603703|HGNC:HGNC:10362|Ensembl:ENSG00000089009|HPRD:04745|Vega:OTTHUMG00000169685 12 12q24.1 ribosomal protein L6 protein-coding RPL6 ribosomal protein L6 O 60S ribosomal protein L6|DNA-binding protein TAXREB107|neoplasm-related protein C140|tax-responsive enhancer element-binding protein 107 20141207 9606 6129 RPL7 - L7|humL7-1 MIM:604166|HGNC:HGNC:10363|Ensembl:ENSG00000147604|HPRD:05004|Vega:OTTHUMG00000134312 8 8q21.11 ribosomal protein L7 protein-coding RPL7 ribosomal protein L7 O 60S ribosomal protein L7 20141207 9606 6130 RPL7A RP11-244N20.10-004 L7A|SURF3|TRUP MIM:185640|HGNC:HGNC:10364|Ensembl:ENSG00000148303|HPRD:01712|Vega:OTTHUMG00000020864 9 9q34 ribosomal protein L7a protein-coding RPL7A ribosomal protein L7a O 60S ribosomal protein L7a|PLA-X polypeptide|surfeit 3|surfeit locus protein 3|thyroid hormone receptor uncoupling protein 20141207 9606 6132 RPL8 - L8 MIM:604177|HGNC:HGNC:10368|Ensembl:ENSG00000161016|HPRD:16044|Vega:OTTHUMG00000165249 8 8q24.3 ribosomal protein L8 protein-coding RPL8 ribosomal protein L8 O 60S ribosomal protein L8 20141207 9606 6133 RPL9 OK/SW-cl.103 L9|NPC-A-16 MIM:603686|HGNC:HGNC:10369|Ensembl:ENSG00000163682|HPRD:04732|Vega:OTTHUMG00000099367 4 4p13 ribosomal protein L9 protein-coding RPL9 ribosomal protein L9 O 60S ribosomal protein L9 20141207 9606 6134 RPL10 XX-FW83563B9.1 AUTSX5|DXS648|DXS648E|L10|NOV|QM MIM:312173|HGNC:HGNC:10298|Ensembl:ENSG00000147403|HPRD:02421|Vega:OTTHUMG00000033189 X Xq28 ribosomal protein L10 protein-coding RPL10 ribosomal protein L10 O 60S ribosomal protein L10|Wilms tumor-related protein|laminin receptor homolog|tumor suppressor QM 20141219 9606 6135 RPL11 RP11-223J15.3 DBA7|GIG34|L11 MIM:604175|HGNC:HGNC:10301|Ensembl:ENSG00000142676|HPRD:10364|Vega:OTTHUMG00000002926 1 1p36.1-p35 ribosomal protein L11 protein-coding RPL11 ribosomal protein L11 O 60S ribosomal protein L11|CLL-associated antigen KW-12|cell growth-inhibiting protein 34 20141222 9606 6136 RPL12 - L12 MIM:180475|HGNC:HGNC:10302|Ensembl:ENSG00000197958|HPRD:01603|Vega:OTTHUMG00000020704 9 9q34 ribosomal protein L12 protein-coding RPL12 ribosomal protein L12 O 60S ribosomal protein L12 20141207 9606 6137 RPL13 OK/SW-cl.46 BBC1|D16S444E|D16S44E|L13 MIM:113703|HGNC:HGNC:10303|Ensembl:ENSG00000167526|HPRD:06428|Vega:OTTHUMG00000133770 16 16q24.3|17p11.2 ribosomal protein L13 protein-coding RPL13 ribosomal protein L13 O 60S ribosomal protein L13|OK/SW-cl.46|breast basic conserved protein 1 20141207 9606 6138 RPL15 TCBAP0781 DBA12|EC45|L15|RPL10|RPLY10|RPYL10 MIM:604174|HGNC:HGNC:10306|Ensembl:ENSG00000174748|HPRD:16043|Vega:OTTHUMG00000130485 3 3p24.2 ribosomal protein L15 protein-coding RPL15 ribosomal protein L15 O 60S ribosomal protein L15 20141219 9606 6139 RPL17 - L17|PD-1|RPL23 MIM:603661|HGNC:HGNC:10307|Ensembl:ENSG00000265681|HPRD:04715|Vega:OTTHUMG00000179680 18 18q21 ribosomal protein L17 protein-coding RPL17 ribosomal protein L17 O 60S ribosomal protein L17|60S ribosomal protein L23|gene encoding putative NFkB activating protein 20141207 9606 6141 RPL18 - L18 MIM:604179|HGNC:HGNC:10310|Ensembl:ENSG00000063177|HPRD:16046|Vega:OTTHUMG00000169760 19 19q13 ribosomal protein L18 protein-coding RPL18 ribosomal protein L18 O 60S ribosomal protein L18 20141207 9606 6142 RPL18A - L18A MIM:604178|HGNC:HGNC:10311|Ensembl:ENSG00000105640|HPRD:16045|Vega:OTTHUMG00000183445 19 19p13 ribosomal protein L18a protein-coding RPL18A ribosomal protein L18a O 60S ribosomal protein L18a|ribosomal protein L18a-like protein 20141207 9606 6143 RPL19 - L19 MIM:180466|HGNC:HGNC:10312|Ensembl:ENSG00000108298|HPRD:01594|Vega:OTTHUMG00000178979 17 17q12 ribosomal protein L19 protein-coding RPL19 ribosomal protein L19 O 60S ribosomal protein L19 20141207 9606 6144 RPL21 RP11-428O18.5 HYPT12|L21 MIM:603636|HGNC:HGNC:10313|Ensembl:ENSG00000122026|HPRD:04700|Vega:OTTHUMG00000016630 13 13q12.2 ribosomal protein L21 protein-coding RPL21 ribosomal protein L21 O 60S ribosomal protein L21 20141207 9606 6146 RPL22 - EAP|HBP15|HBP15/L22|L22 MIM:180474|HGNC:HGNC:10315|Ensembl:ENSG00000116251|HPRD:01602|Vega:OTTHUMG00000000953 1 1p36.31 ribosomal protein L22 protein-coding RPL22 ribosomal protein L22 O 60S ribosomal protein L22|EBER-associated protein|Epstein-Barr virus small RNA-associated protein|Epstein-Barr-encoded RNA-associated protein|heparin-binding protein 15|heparin-binding protein HBp15 20141207 9606 6147 RPL23A - L23A|MDA20 MIM:602326|HGNC:HGNC:10317|HPRD:15998 17 17q11.2 ribosomal protein L23a protein-coding RPL23A ribosomal protein L23a O 60S ribosomal protein L23a|melanoma differentiation-associated gene 20 20141207 9606 6152 RPL24 - HEL-S-310|L24 MIM:604180|HGNC:HGNC:10325|Ensembl:ENSG00000114391|HPRD:10365|Vega:OTTHUMG00000159146 3 3q12 ribosomal protein L24 protein-coding RPL24 ribosomal protein L24 O 60S ribosomal protein L24|60S ribosomal protein L30|epididymis secretory protein Li 310|ribosomal protein L30 20141207 9606 6154 RPL26 - DBA11|L26 MIM:603704|HGNC:HGNC:10327|Ensembl:ENSG00000161970|HPRD:04746|Vega:OTTHUMG00000108191 17 17p13 ribosomal protein L26 protein-coding RPL26 ribosomal protein L26 O 60S ribosomal protein L26 20141219 9606 6155 RPL27 - L27 MIM:607526|HGNC:HGNC:10328|Ensembl:ENSG00000131469|HPRD:09602|Vega:OTTHUMG00000180660 17 17q21 ribosomal protein L27 protein-coding RPL27 ribosomal protein L27 O 60S ribosomal protein L27 20141207 9606 6156 RPL30 - L30 MIM:180467|HGNC:HGNC:10333|Ensembl:ENSG00000156482|HPRD:01595|Vega:OTTHUMG00000164796 8 8q22 ribosomal protein L30 protein-coding RPL30 ribosomal protein L30 O 60S ribosomal protein L30 20141207 9606 6157 RPL27A - L27A MIM:603637|HGNC:HGNC:10329|Ensembl:ENSG00000166441|HPRD:04701|Vega:OTTHUMG00000165834 11 11p15 ribosomal protein L27a protein-coding RPL27A ribosomal protein L27a O 60S ribosomal protein L27a 20141207 9606 6158 RPL28 - L28 MIM:603638|HGNC:HGNC:10330|Ensembl:ENSG00000108107|HPRD:04702|Vega:OTTHUMG00000171991 19 19q13.4 ribosomal protein L28 protein-coding RPL28 ribosomal protein L28 O 60S ribosomal protein L28 20141207 9606 6159 RPL29 - HIP|HUMRPL29|L29|RPL29P10|RPL29_3_370 MIM:601832|HGNC:HGNC:10331|Ensembl:ENSG00000162244|HPRD:03495|Vega:OTTHUMG00000155262 3 3p21.3-p21.2 ribosomal protein L29 protein-coding RPL29 ribosomal protein L29 O 60S ribosomal protein L29|HP/HS-interacting protein|cell surface heparin-binding protein HIP|heparin/heparan sulfate-binding protein|heparin/heparan sulfate-interacting protein|ribosomal protein YL43 homologue 20141207 9606 6160 RPL31 - L31 HGNC:HGNC:10334|Ensembl:ENSG00000071082|HPRD:17994|Vega:OTTHUMG00000130687 2 2q11.2 ribosomal protein L31 protein-coding RPL31 ribosomal protein L31 O 60S ribosomal protein L31 20141207 9606 6161 RPL32 PP9932 L32 HGNC:HGNC:10336|Ensembl:ENSG00000144713|HPRD:17995 3 3p25-p24 ribosomal protein L32 protein-coding RPL32 ribosomal protein L32 O 60S ribosomal protein L32 20141207 9606 6164 RPL34 - L34 HGNC:HGNC:10340|Ensembl:ENSG00000109475|HPRD:17996|Vega:OTTHUMG00000131839 4 4q25 ribosomal protein L34 protein-coding RPL34 ribosomal protein L34 O 60S ribosomal protein L34|leukemia-associated protein 20141207 9606 6165 RPL35A GIG33 DBA5|L35A MIM:180468|HGNC:HGNC:10345|Ensembl:ENSG00000182899|HPRD:01596|Vega:OTTHUMG00000155386 3 3q29 ribosomal protein L35a protein-coding RPL35A ribosomal protein L35a O 60S ribosomal protein L35a|cell growth-inhibiting gene 33 protein 20141219 9606 6167 RPL37 - L37 MIM:604181|HGNC:HGNC:10347|HPRD:16047 5 5p13 ribosomal protein L37 protein-coding RPL37 ribosomal protein L37 O 60S ribosomal protein L37|60S ribosomal protein L37a|G1.16 20141207 9606 6168 RPL37A - L37A MIM:613314|HGNC:HGNC:10348|HPRD:17997 2 2q35 ribosomal protein L37a protein-coding RPL37A ribosomal protein L37a O 60S ribosomal protein L37a 20141207 9606 6169 RPL38 - L38 MIM:604182|HGNC:HGNC:10349|Ensembl:ENSG00000172809|HPRD:16048|Vega:OTTHUMG00000166016 17 17q25.1 ribosomal protein L38 protein-coding RPL38 ribosomal protein L38 O 60S ribosomal protein L38 20141207 9606 6170 RPL39 - L39|RPL39P42|RPL39_23_1806 MIM:300899|HGNC:HGNC:10350|Ensembl:ENSG00000198918|HPRD:03546|Vega:OTTHUMG00000022278 X Xq24 ribosomal protein L39 protein-coding RPL39 ribosomal protein L39 O 60S ribosomal protein L39 20141222 9606 6171 RPL41 - L41 MIM:613315|HGNC:HGNC:10354|Ensembl:ENSG00000229117|HPRD:17999|Vega:OTTHUMG00000170183 12 12q13 ribosomal protein L41 protein-coding RPL41 ribosomal protein L41 O 60S ribosomal protein L41|HG12 protein|homologue of yeast ribosomal protein YL41 20141207 9606 6173 RPL36A RP1-164F3.1 L36A|L44L|MIG6|RPL44 MIM:300902|HGNC:HGNC:10359|Ensembl:ENSG00000241343|HPRD:06709|Vega:OTTHUMG00000022027 X Xq22.1 ribosomal protein L36a protein-coding RPL36A ribosomal protein L36a O 60S ribosomal protein L36a|60S ribosomal protein L44|L44-like ribosomal protein|cell growth-inhibiting gene 15 protein|cell migration-inducing gene 6 protein|dJ164F3.3 (ribosomal protein L44) 20141207 9606 6175 RPLP0 - L10E|LP0|P0|PRLP0|RPP0 MIM:180510|HGNC:HGNC:10371|Ensembl:ENSG00000089157|HPRD:01610|Vega:OTTHUMG00000169317 12 12q24.2 ribosomal protein, large, P0 protein-coding RPLP0 ribosomal protein, large, P0 O 60S acidic ribosomal protein P0|60S ribosomal protein L10E|acidic ribosomal phosphoprotein P0 20141207 9606 6176 RPLP1 - LP1|P1|RPP1 MIM:180520|HGNC:HGNC:10372|Ensembl:ENSG00000137818|HPRD:01611|Vega:OTTHUMG00000172087 15 15q22 ribosomal protein, large, P1 protein-coding RPLP1 ribosomal protein, large, P1 O 60S acidic ribosomal protein P1|acidic ribosomal phosphoprotein P1 20141207 9606 6181 RPLP2 - D11S2243E|LP2|P2|RPP2 MIM:180530|HGNC:HGNC:10377|HPRD:01612 11 11p15.5 ribosomal protein, large, P2 protein-coding RPLP2 ribosomal protein, large, P2 O 60S acidic ribosomal protein P2|acidic ribosomal phosphoprotein P2|renal carcinoma antigen NY-REN-44 20141207 9606 6184 RPN1 - OST1|RBPH1 MIM:180470|HGNC:HGNC:10381|Ensembl:ENSG00000163902|HPRD:01598|Vega:OTTHUMG00000159691 3 3q21.3 ribophorin I protein-coding RPN1 ribophorin I O RPN-I|dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit|dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1|dolichyl-diphosphooligosaccharide-protein glycosyltransferase 67 kDa subunit|oligosaccharyltransferase 1 homolog|oligosaccharyltransferase complex subunit (non-catalytic)|ribophorin-1 20141207 9606 6185 RPN2 RP3-343K2.2 RIBIIR|RPN-II|RPNII|SWP1 MIM:180490|HGNC:HGNC:10382|Ensembl:ENSG00000118705|HPRD:01609|Vega:OTTHUMG00000032409 20 20q12-q13.1 ribophorin II protein-coding RPN2 ribophorin II O dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit|dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2|oligosaccharyltransferase complex subunit (non-catalytic)|ribophorin-2 20141222 9606 6187 RPS2 - LLREP3|S2 MIM:603624|HGNC:HGNC:10404|Ensembl:ENSG00000140988|HPRD:04690|Vega:OTTHUMG00000128708 16 16p13.3 ribosomal protein S2 protein-coding RPS2 ribosomal protein S2 O 40S ribosomal protein S2|40S ribosomal protein S4|OK/KNS-cl.6|protein LLRep3 20141207 9606 6188 RPS3 OK/SW-cl.26 S3 MIM:600454|HGNC:HGNC:10420|Ensembl:ENSG00000149273|HPRD:10941|Vega:OTTHUMG00000165448 11 11q13.3-q13.5 ribosomal protein S3 protein-coding RPS3 ribosomal protein S3 O 40S ribosomal protein S3|IMR-90 ribosomal protein S3 20141207 9606 6189 RPS3A - FTE1|MFTL|S3A MIM:180478|HGNC:HGNC:10421|Ensembl:ENSG00000145425|HPRD:01606|Vega:OTTHUMG00000161445 4 4q31.2-q31.3 ribosomal protein S3A protein-coding RPS3A ribosomal protein S3A O 40S ribosomal protein S3a|fte-1|v-fos transformation effector protein 1 20141207 9606 6191 RPS4X - CCG2|DXS306|RPS4|S4|SCAR|SCR10 MIM:312760|HGNC:HGNC:10424|HPRD:02427 X Xq13.1 ribosomal protein S4, X-linked protein-coding RPS4X ribosomal protein S4, X-linked O 40S ribosomal protein S4, X isoform|cell cycle gene 2|ribosomal protein S4X isoform|single copy abundant mRNA protein|single-copy abundant mRNA 20141207 9606 6192 RPS4Y1 PRO2646 RPS4Y|S4 MIM:470000|HGNC:HGNC:10425|Ensembl:ENSG00000279950|HPRD:15963 Y Yp11.3 ribosomal protein S4, Y-linked 1 protein-coding RPS4Y1 ribosomal protein S4, Y-linked 1 O 40S ribosomal protein S4, Y|40S ribosomal protein S4, Y isoform 1|ribosomal protein S4Y 20141207 9606 6193 RPS5 - S5 MIM:603630|HGNC:HGNC:10426|Ensembl:ENSG00000083845|HPRD:04695|Vega:OTTHUMG00000183530 19 19q13.4 ribosomal protein S5 protein-coding RPS5 ribosomal protein S5 O 40S ribosomal protein S5 20141207 9606 6194 RPS6 RP11-513M16.6 S6 MIM:180460|HGNC:HGNC:10429|Ensembl:ENSG00000137154|HPRD:01592|Vega:OTTHUMG00000019642 9 9p21 ribosomal protein S6 protein-coding RPS6 ribosomal protein S6 O 40S ribosomal protein S6|phosphoprotein NP33 20141207 9606 6201 RPS7 - DBA8|S7 MIM:603658|HGNC:HGNC:10440|Ensembl:ENSG00000171863|HPRD:04712|Vega:OTTHUMG00000090305 2 2p25 ribosomal protein S7 protein-coding RPS7 ribosomal protein S7 O 40S ribosomal protein S7 20141219 9606 6202 RPS8 RP11-269F19.3 S8 MIM:600357|HGNC:HGNC:10441|Ensembl:ENSG00000142937|HPRD:15969|Vega:OTTHUMG00000008494 1 1p34.1-p32 ribosomal protein S8 protein-coding RPS8 ribosomal protein S8 O 40S ribosomal protein S8|OK/SW-cl.83 20141207 9606 6203 RPS9 XXbac-BCX105G6.6 S9 MIM:603631|HGNC:HGNC:10442|Ensembl:ENSG00000170889|HPRD:04696|Vega:OTTHUMG00000066618 19 19q13.4 ribosomal protein S9 protein-coding RPS9 ribosomal protein S9 O 40S ribosomal protein S9 20141207 9606 6204 RPS10 RP11-375E1__A.4 DBA9|S10 MIM:603632|HGNC:HGNC:10383|Ensembl:ENSG00000124614|HPRD:04697|Vega:OTTHUMG00000014546 6 6p21.31 ribosomal protein S10 protein-coding RPS10 ribosomal protein S10 O 40S ribosomal protein S10 20141219 9606 6205 RPS11 - S11 MIM:180471|HGNC:HGNC:10384|Ensembl:ENSG00000142534|HPRD:01599|Vega:OTTHUMG00000183156 19 19q13.3 ribosomal protein S11 protein-coding RPS11 ribosomal protein S11 O 40S ribosomal protein S11 20141207 9606 6206 RPS12 - S12 MIM:603660|HGNC:HGNC:10385|HPRD:04714 6 6q23.2 ribosomal protein S12 protein-coding RPS12 ribosomal protein S12 O 40S ribosomal protein S12 20141207 9606 6207 RPS13 - S13 MIM:180476|HGNC:HGNC:10386|Ensembl:ENSG00000110700|HPRD:01604|Vega:OTTHUMG00000165988 11 11p15 ribosomal protein S13 protein-coding RPS13 ribosomal protein S13 O 40S ribosomal protein S13 20141207 9606 6208 RPS14 PRO2640 EMTB|S14 MIM:130620|HGNC:HGNC:10387|Ensembl:ENSG00000164587|HPRD:00562|Vega:OTTHUMG00000130080 5 5q31-q33 ribosomal protein S14 protein-coding RPS14 ribosomal protein S14 O 40S ribosomal protein S14|emetine resistance 20141207 9606 6209 RPS15 - RIG|S15 MIM:180535|HGNC:HGNC:10388|Ensembl:ENSG00000115268|HPRD:01613|Vega:OTTHUMG00000140099 19 19p13.3 ribosomal protein S15 protein-coding RPS15 ribosomal protein S15 O 40S ribosomal protein S15|homolog of rat insulinoma|insulinoma protein 20141207 9606 6210 RPS15A OK/SW-cl.82 S15a MIM:603674|HGNC:HGNC:10389|Ensembl:ENSG00000134419|HPRD:04723|Vega:OTTHUMG00000131365 16 16p ribosomal protein S15a protein-coding RPS15A ribosomal protein S15a O 40S ribosomal protein S15a|up-regulated by HBV X protein 20141207 9606 6217 RPS16 - S16 MIM:603675|HGNC:HGNC:10396|Ensembl:ENSG00000105193|HPRD:04724|Vega:OTTHUMG00000182972 19 19q13.1 ribosomal protein S16 protein-coding RPS16 ribosomal protein S16 O 40S ribosomal protein S16 20141207 9606 6218 RPS17 - DBA4|RPS17L|RPS17L1|RPS17L2|S17 MIM:180472|HGNC:HGNC:10397|Ensembl:ENSG00000182774|HPRD:01600|Vega:OTTHUMG00000147355 15 15q ribosomal protein S17 protein-coding RPS17 ribosomal protein S17 O 40S ribosomal protein S17 20141219 9606 6222 RPS18 DADB-159G18.1 D6S218E|HKE3|KE-3|KE3|S18 MIM:180473|HGNC:HGNC:10401|Ensembl:ENSG00000231500|HPRD:01601|Vega:OTTHUMG00000031053 6 6p21.3 ribosomal protein S18 protein-coding RPS18 ribosomal protein S18 O 40S ribosomal protein S18|rhabdomyosarcoma antigen MU-RMS-40.21 20141207 9606 6223 RPS19 - DBA|DBA1|S19 MIM:603474|HGNC:HGNC:10402|HPRD:04591 19 19q13.2 ribosomal protein S19 protein-coding RPS19 ribosomal protein S19 O 40S ribosomal protein S19 20141222 9606 6224 RPS20 - S20 MIM:603682|HGNC:HGNC:10405|HPRD:04728 8 8q12 ribosomal protein S20 protein-coding RPS20 ribosomal protein S20 O 40S ribosomal protein S20 20141207 9606 6227 RPS21 RP5-908M14.8 HLDF|S21 MIM:180477|HGNC:HGNC:10409|Ensembl:ENSG00000171858|HPRD:01605|Vega:OTTHUMG00000032915 20 20q13.3 ribosomal protein S21 protein-coding RPS21 ribosomal protein S21 O 40S ribosomal protein S21|8.2 kDa differentiation factor|human leukemia differentiation factor 20141207 9606 6228 RPS23 - S23 MIM:603683|HGNC:HGNC:10410|Ensembl:ENSG00000186468|HPRD:04729|Vega:OTTHUMG00000162557 5 5q14.2 ribosomal protein S23 protein-coding RPS23 ribosomal protein S23 O 40S ribosomal protein S23|homolog of yeast ribosomal protein S28 20141207 9606 6229 RPS24 RP11-6P10.1 DBA3|S24 MIM:602412|HGNC:HGNC:10411|Ensembl:ENSG00000138326|HPRD:03877|Vega:OTTHUMG00000018549 10 10q22 ribosomal protein S24 protein-coding RPS24 ribosomal protein S24 O 40S ribosomal protein S24 20141219 9606 6230 RPS25 - S25 MIM:180465|HGNC:HGNC:10413|HPRD:01593 11 11q23.3 ribosomal protein S25 protein-coding RPS25 ribosomal protein S25 O 40S ribosomal protein S25 20141207 9606 6231 RPS26 RP11-151A6.3 DBA10|S26 MIM:603701|HGNC:HGNC:10414|Ensembl:ENSG00000197728|HPRD:04743|Vega:OTTHUMG00000170139 12 12q13 ribosomal protein S26 protein-coding RPS26 ribosomal protein S26 O 40S ribosomal protein S26 20141219 9606 6232 RPS27 RP11-422P24.3 MPS-1|MPS1|S27 MIM:603702|HGNC:HGNC:10416|Ensembl:ENSG00000177954|HPRD:04744|Vega:OTTHUMG00000036591 1 1q21 ribosomal protein S27 protein-coding RPS27 ribosomal protein S27 O 40S ribosomal protein S27|metallopan-stimulin 1|metallopanstimulin 1 20141207 9606 6233 RPS27A - CEP80|HEL112|S27A|UBA80|UBC|UBCEP1|UBCEP80 MIM:191343|HGNC:HGNC:10417|Ensembl:ENSG00000143947|HPRD:01878|Vega:OTTHUMG00000151919 2 2p16 ribosomal protein S27a protein-coding RPS27A ribosomal protein S27a O 40S ribosomal protein S27a|epididymis luminal protein 112|ubiquitin C|ubiquitin and ribosomal protein S27a|ubiquitin carboxyl extension protein 80|ubiquitin-40S ribosomal protein S27a|ubiquitin-CEP80 20141207 9606 6234 RPS28 - S28 MIM:603685|HGNC:HGNC:10418|HPRD:04731 19 19p13.2 ribosomal protein S28 protein-coding RPS28 ribosomal protein S28 O 40S ribosomal protein S28 20141207 9606 6235 RPS29 - DBA13|S29 MIM:603633|HGNC:HGNC:10419|Ensembl:ENSG00000213741|HPRD:04698|Vega:OTTHUMG00000140272 14 14q ribosomal protein S29 protein-coding RPS29 ribosomal protein S29 O 40S ribosomal protein S29 20141219 9606 6240 RRM1 - R1|RIR1|RR1 MIM:180410|HGNC:HGNC:10451|Ensembl:ENSG00000167325|HPRD:01588|Vega:OTTHUMG00000133361 11 11p15.5 ribonucleotide reductase M1 protein-coding RRM1 ribonucleotide reductase M1 O ribonucleoside-diphosphate reductase large subunit|ribonucleoside-diphosphate reductase subunit M1|ribonucleotide reductase M1 polypeptide|ribonucleotide reductase, R1 subunit 20141207 9606 6241 RRM2 - R2|RR2|RR2M MIM:180390|HGNC:HGNC:10452|Ensembl:ENSG00000171848|HPRD:01587|Vega:OTTHUMG00000090449 2 2p25-p24 ribonucleotide reductase M2 protein-coding RRM2 ribonucleotide reductase M2 O ribonucleoside-diphosphate reductase subunit M2|ribonucleotide reductase M2 polypeptide|ribonucleotide reductase small chain|ribonucleotide reductase small subunit 20141222 9606 6256 RXRA - NR2B1 MIM:180245|HGNC:HGNC:10477|HPRD:01577 9 9q34.3 retinoid X receptor, alpha protein-coding RXRA retinoid X receptor, alpha O nuclear receptor subfamily 2 group B member 1|retinoic acid receptor RXR-alpha|retinoid X nuclear receptor alpha 20141222 9606 6296 ACSM3 - SA|SAH MIM:145505|HGNC:HGNC:10522|Ensembl:ENSG00000005187|HPRD:07033|Vega:OTTHUMG00000131552 16 16p13.11 acyl-CoA synthetase medium-chain family member 3 protein-coding ACSM3 acyl-CoA synthetase medium-chain family member 3 O SA (rat hypertension-associated) homolog|SA hypertension-associated homolog|acyl-coenzyme A synthetase ACSM3, mitochondrial|butyrate--CoA ligase 3|butyryl-coenzyme A synthetase 3|middle-chain acyl-CoA synthetase 3|protein SA homolog 20141207 9606 6303 SAT1 - DC21|KFSD|KFSDX|SAT|SSAT|SSAT-1 MIM:313020|HGNC:HGNC:10540|Ensembl:ENSG00000130066|HPRD:02431|Vega:OTTHUMG00000021256 X Xp22.1 spermidine/spermine N1-acetyltransferase 1 protein-coding SAT1 spermidine/spermine N1-acetyltransferase 1 O diamine N-acetyltransferase 1|diamine acetyltransferase 1|polyamine N-acetyltransferase 1|putrescine acetyltransferase|spermidine/spermine N1-acetyltransferase alpha 20141222 9606 6307 MSMO1 - DESP4|ERG25|SC4MOL MIM:607545|HGNC:HGNC:10545|Ensembl:ENSG00000052802|HPRD:07396|Vega:OTTHUMG00000161126 4 4q32-q34 methylsterol monooxygenase 1 protein-coding MSMO1 methylsterol monooxygenase 1 O C-4 methyl sterol|C-4 methylsterol oxidase 20141207 9606 6309 SC5D - ERG3|S5DES|SC5DL MIM:602286|HGNC:HGNC:10547|HPRD:09078 11 11q23.3 sterol-C5-desaturase protein-coding SC5D sterol-C5-desaturase O 3beta-hydroxysteroid-delta5-desaturase|C-5 sterol desaturase|delta(7)-sterol 5-desaturase|fungal ERG3, delta-5-desaturase-like|lathosterol 5-desaturase|lathosterol dehydrogenase|lathosterol oxidase|sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like 20141207 9606 6342 SCP2 - NLTP|NSL-TP|SCP-2|SCP-CHI|SCP-X|SCPX MIM:184755|HGNC:HGNC:10606|Ensembl:ENSG00000116171|HPRD:01700|Vega:OTTHUMG00000008936 1 1p32 sterol carrier protein 2 protein-coding SCP2 sterol carrier protein 2 O non-specific lipid-transfer protein|propanoyl-CoA C-acyltransferase|sterol carrier protein X 20141207 9606 6382 SDC1 - CD138|SDC|SYND1|syndecan MIM:186355|HGNC:HGNC:10658|Ensembl:ENSG00000115884|HPRD:01718|Vega:OTTHUMG00000090751 2 2p24.1 syndecan 1 protein-coding SDC1 syndecan 1 O CD138 antigen|heparan sulfate proteoglycan fibroblast growth factor receptor|syndecan proteoglycan 1|syndecan-1 20141222 9606 6383 SDC2 - CD362|HSPG|HSPG1|SYND2 MIM:142460|HGNC:HGNC:10659|Ensembl:ENSG00000169439|HPRD:00803|Vega:OTTHUMG00000164689 8 8q22-q23 syndecan 2 protein-coding SDC2 syndecan 2 O cell surface-associated heparan sulfate proteoglycan 1|fibroglycan|heparan sulfate proteoglycan 1, cell surface-associated|heparan sulfate proteoglycan core protein|syndecan proteoglycan 2|syndecan-2 20141222 9606 6385 SDC4 - SYND4 MIM:600017|HGNC:HGNC:10661|Ensembl:ENSG00000124145|HPRD:08366|Vega:OTTHUMG00000033083 20 20q12 syndecan 4 protein-coding SDC4 syndecan 4 O amphiglycan|ryudocan amphiglycan|ryudocan core protein|syndecan 4 (amphiglycan, ryudocan)|syndecan proteoglycan 4|syndecan-4 20141207 9606 6389 SDHA - CMD1GG|FP|PGL5|SDH1|SDH2|SDHF MIM:600857|HGNC:HGNC:10680|Ensembl:ENSG00000073578|HPRD:02914|Vega:OTTHUMG00000090275 5 5p15 succinate dehydrogenase complex, subunit A, flavoprotein (Fp) protein-coding SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) O flavoprotein subunit of complex II|succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial|succinate dehydrogenase complex flavoprotein subunit 20141219 9606 6390 SDHB - CWS2|IP|PGL4|SDH|SDH1|SDH2|SDHIP MIM:185470|HGNC:HGNC:10681|Ensembl:ENSG00000117118|HPRD:01707|Vega:OTTHUMG00000002289 1 1p36.1-p35 succinate dehydrogenase complex, subunit B, iron sulfur (Ip) protein-coding SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) O iron-sulfur subunit of complex II|succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial 20141222 9606 6391 SDHC - CYB560|CYBL|PGL3|QPS1|SDH3 MIM:602413|HGNC:HGNC:10682|HPRD:03878 1 1q23.3 succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa protein-coding SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa O cytochrome B large subunit of complex II|integral membrane protein CII-3b|succinate dehydrgenase cytochrome b|succinate dehydrogenase 3, integral membrane subunit|succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD|succinate dehydrogenase cytochrome b560 subunit, mitochondrial|succinate-ubiquinone oxidoreductase cytochrome B large subunit 20141219 9606 6392 SDHD - CBT1|CII-4|CWS3|PGL|PGL1|QPs3|SDH4|cybS MIM:602690|HGNC:HGNC:10683|Ensembl:ENSG00000204370|HPRD:04069|Vega:OTTHUMG00000166997 11 11q23 succinate dehydrogenase complex, subunit D, integral membrane protein protein-coding SDHD succinate dehydrogenase complex, subunit D, integral membrane protein O succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial|succinate-ubiquinone oxidoreductase cytochrome b small subunit|succinate-ubiquinone reductase membrane anchor subunit 20141219 9606 6396 SEC13 - D3S1231E|SEC13L1|SEC13R|npp-20 MIM:600152|HGNC:HGNC:10697|Ensembl:ENSG00000157020|HPRD:02538|Vega:OTTHUMG00000128671 3 3p25-p24 SEC13 homolog (S. cerevisiae) protein-coding SEC13 SEC13 homolog (S. cerevisiae) O SEC13-like 1 isoform|SEC13-like protein 1|SEC13-related protein|protein SEC13 homolog 20141207 9606 6448 SGSH - HSS|MPS3A|SFMD MIM:605270|HGNC:HGNC:10818|Ensembl:ENSG00000181523|HPRD:05590|Vega:OTTHUMG00000177569 17 17q25.3 N-sulfoglucosamine sulfohydrolase protein-coding SGSH N-sulfoglucosamine sulfohydrolase O N-sulphoglucosamine sulphohydrolase|heparan sulfate sulfatase|mucopolysaccharidosis type IIIA|sulfoglucosamine sulfamidase|sulphamidase 20141207 9606 6468 FBXW4 RP11-529I10.3 DAC|FBW4|FBWD4|SHFM3|SHSF3 MIM:608071|HGNC:HGNC:10847|Ensembl:ENSG00000107829|HPRD:06994|Vega:OTTHUMG00000018938 10 10q24 F-box and WD repeat domain containing 4 protein-coding FBXW4 F-box and WD repeat domain containing 4 O F-box and WD-40 domain protein 4|F-box and WD-40 domain-containing protein 4|F-box/WD repeat protein 4|F-box/WD repeat-containing protein 4|dactylin 20141207 9606 6470 SHMT1 - CSHMT|SHMT MIM:182144|HGNC:HGNC:10850|Ensembl:ENSG00000176974|HPRD:01643|Vega:OTTHUMG00000059094 17 17p11.2 serine hydroxymethyltransferase 1 (soluble) protein-coding SHMT1 serine hydroxymethyltransferase 1 (soluble) O cytoplasmic serine hydroxymethyltransferase|glycine hydroxymethyltransferase|serine hydroxymethyltransferase, cytosolic|serine methylase 20141222 9606 6472 SHMT2 - GLYA|HEL-S-51e|SHMT MIM:138450|HGNC:HGNC:10852|Ensembl:ENSG00000182199|HPRD:00717|Vega:OTTHUMG00000171246 12 12q12-q14 serine hydroxymethyltransferase 2 (mitochondrial) protein-coding SHMT2 serine hydroxymethyltransferase 2 (mitochondrial) O GLY A+|epididymis secretory sperm binding protein Li 51e|glycine auxotroph A, human complement for hamster|glycine hydroxymethyltransferase|serine aldolase|serine hydroxymethylase|serine hydroxymethyltransferase, mitochondrial|serine methylase|threonine aldolase 20141207 9606 6476 SI - - MIM:609845|HGNC:HGNC:10856|Ensembl:ENSG00000090402|HPRD:01962|Vega:OTTHUMG00000158065 3 3q25.2-q26.2 sucrase-isomaltase (alpha-glucosidase) protein-coding SI sucrase-isomaltase (alpha-glucosidase) O oligosaccharide alpha-1,6-glucosidase|sucrase-isomaltase, intestinal 20141207 9606 6480 ST6GAL1 - SIAT1|ST6GalI|ST6N MIM:109675|HGNC:HGNC:10860|Ensembl:ENSG00000073849|HPRD:00184|Vega:OTTHUMG00000156500 3 3q27-q28 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 protein-coding ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 O B-cell antigen CD75|CMP-N-acetylneuraminate beta-galactosamide alpha-2,6-sialyltransferase|CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 1|ST6Gal I|alpha 2,6-ST 1|beta-galactoside alpha-2,6-sialyltransferase 1|sialyltransferase 1 (beta-galactoside alpha-2,6-sialyltransferase) 20141207 9606 6482 ST3GAL1 - Gal-NAc6S|SIAT4A|SIATFL|ST3GalA|ST3GalA.1|ST3GalIA|ST3GalIA,1|ST3O MIM:607187|HGNC:HGNC:10862|Ensembl:ENSG00000008513|HPRD:06219|Vega:OTTHUMG00000164534 8 8q24.22 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 protein-coding ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 O CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1|Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase|SIAT4-A|ST3GalI|alpha 2,3-ST 1|beta-galactoside alpha-2,3-sialyltransferase 1|sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)|sialyltransferase 4A (beta-galactoside alpha-2,3-sialyltransferase)|sialyltransferase 4A (beta-galactoside alpha-2,3-sialytransferase) 20141207 9606 6483 ST3GAL2 - Gal-NAc6S|SIAT4B|ST3GALII|ST3GalA.2 MIM:607188|HGNC:HGNC:10863|Ensembl:ENSG00000157350|HPRD:06220 16 16q22.1 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 protein-coding ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 O CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2|Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase|SIAT4-B|ST3Gal II|alpha 2,3-ST 2|beta-galactoside alpha-2,3-sialyltransferase 2|beta-galactoside alpha-2,3-sialytransferase|sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase) 20141207 9606 6487 ST3GAL3 - EIEE15|MRT12|SIAT6|ST3GALII|ST3GalIII|ST3N MIM:606494|HGNC:HGNC:10866|Ensembl:ENSG00000126091|HPRD:05930|Vega:OTTHUMG00000007561 1 1p34.1 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 protein-coding ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 O CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase|Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase|ST3Gal III|alpha 2,3-ST 3|alpha 2,3-sialyltransferase III|alpha-2,3-sialyltransferase II|mental retardation, non-syndromic, autosomal recessive, 12|sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase) 20141207 9606 6513 SLC2A1 - DYT17|DYT18|DYT9|EIG12|GLUT|GLUT-1|GLUT1|GLUT1DS|HTLVR|PED MIM:138140|MIM:143090|HGNC:HGNC:11005|Ensembl:ENSG00000117394|HPRD:00683|Vega:OTTHUMG00000007657 1 1p34.2 solute carrier family 2 (facilitated glucose transporter), member 1 protein-coding SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 O glucose transporter type 1, erythrocyte/brain|hepG2 glucose transporter|human T-cell leukemia virus (I and II) receptor|receptor for HTLV-1 and HTLV-2|solute carrier family 2, facilitated glucose transporter member 1 20141222 9606 6514 SLC2A2 - GLUT2 MIM:138160|HGNC:HGNC:11006|Ensembl:ENSG00000163581|HPRD:00685|Vega:OTTHUMG00000158997 3 3q26.1-q26.2 solute carrier family 2 (facilitated glucose transporter), member 2 protein-coding SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 O glucose transporter type 2, liver|solute carrier family 2, facilitated glucose transporter member 2 20141207 9606 6515 SLC2A3 - GLUT3 MIM:138170|HGNC:HGNC:11007|Ensembl:ENSG00000059804|HPRD:00686|Vega:OTTHUMG00000133685 12 12p13.3 solute carrier family 2 (facilitated glucose transporter), member 3 protein-coding SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 O GLUT-3|glucose transporter type 3, brain|solute carrier family 2, facilitated glucose transporter member 3 20141222 9606 6517 SLC2A4 - GLUT4 MIM:138190|HGNC:HGNC:11009|Ensembl:ENSG00000181856|HPRD:00688|Vega:OTTHUMG00000102181 17 17p13 solute carrier family 2 (facilitated glucose transporter), member 4 protein-coding SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 O GLUT-4|glucose transporter type 4, insulin-responsive|insulin-responsive glucose transporter type 4|solute carrier family 2, facilitated glucose transporter member 4 20141207 9606 6518 SLC2A5 RP5-963K15.1 GLUT-5|GLUT5 MIM:138230|HGNC:HGNC:11010|HPRD:00690 1 1p36.2 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 protein-coding SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 O glucose transporter type 5, small intestine|glucose transporter-like protein 5|solute carrier family 2, facilitated glucose transporter member 5 20141207 9606 6523 SLC5A1 RP1-127L4.1 D22S675|NAGT|SGLT1 MIM:182380|HGNC:HGNC:11036|Ensembl:ENSG00000100170|HPRD:01668|Vega:OTTHUMG00000030768 22 22q12.3 solute carrier family 5 (sodium/glucose cotransporter), member 1 protein-coding SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1 O Na+/glucose cotransporter 1|high affinity sodium-glucose cotransporter|sodium/glucose cotransporter 1 20141207 9606 6528 SLC5A5 - NIS|TDH1 MIM:601843|HGNC:HGNC:11040|Ensembl:ENSG00000105641|HPRD:03504|Vega:OTTHUMG00000183447 19 19p13.11 solute carrier family 5 (sodium/iodide cotransporter), member 5 protein-coding SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5 O Na(+)/I(-) cotransporter|Na(+)/I(-) symporter|sodium/iodide cotransporter|solute carrier family 5 (sodium iodide symporter), member 5 20141207 9606 6535 SLC6A8 - CCDS1|CRT|CRTR|CT1|CTR5 MIM:300036|HGNC:HGNC:11055|Ensembl:ENSG00000130821|HPRD:02073|Vega:OTTHUMG00000024208 X Xq28 solute carrier family 6 (neurotransmitter transporter), member 8 protein-coding SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 O creatine transporter 1|creatine transporter SLC6A8 variant D|sodium- and chloride-dependent creatine transporter 1|solute carrier family 6 (neurotransmitter transporter, creatine), member 8|solute carrier family 6 member 8 20141219 9606 6548 SLC9A1 RP4-633N17.1 APNH|NHE-1|NHE1|PPP1R143 MIM:107310|HGNC:HGNC:11071|Ensembl:ENSG00000090020|HPRD:00123|Vega:OTTHUMG00000004271 1 1p36.1-p35 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 protein-coding SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 O Na(+)/H(+) exchanger 1|Na-Li countertransporter|protein phosphatase 1, regulatory subunit 143|sodium/hydrogen exchanger 1|solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)|solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive) 20141207 9606 6554 SLC10A1 GIG29 NTCP MIM:182396|HGNC:HGNC:10905|HPRD:01672 14 14q24.1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 protein-coding SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 O Na(+)/bile acid cotransporter|Na(+)/taurocholate transport protein|Na/taurocholate cotransporting polypeptide|cell growth-inhibiting gene 29 protein|growth-inhibiting protein 29|sodium/bile acid cotransporter|sodium/taurocholate cotransporter|sodium/taurocholate cotransporting polypeptide|solute carrier family 10 (sodium/bile acid cotransporter family), member 1|solute carrier family 10 member 1 20141207 9606 6555 SLC10A2 - ASBT|IBAT|ISBT|NTCP2|PBAM MIM:601295|HGNC:HGNC:10906|Ensembl:ENSG00000125255|HPRD:03189|Vega:OTTHUMG00000017313 13 13q33 solute carrier family 10 (sodium/bile acid cotransporter), member 2 protein-coding SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2 O Na(+)-dependent ileal bile acid transporter|ileal apical sodium-dependent bile acid transporter|ileal sodium-dependent bile acid transporter|ileal sodium/bile acid cotransporter|sodium/taurocholate cotransporting polypeptide, ileal|solute carrier family 10 (sodium/bile acid cotransporter family), member 2 20141207 9606 6566 SLC16A1 RP4-580L15.1 HHF7|MCT|MCT1|MCT1D MIM:600682|HGNC:HGNC:10922|Ensembl:ENSG00000155380|HPRD:02816|Vega:OTTHUMG00000012129 1 1p12 solute carrier family 16 (monocarboxylate transporter), member 1 protein-coding SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1 O MCT 1|monocarboxylate transporter 1|solute carrier family 16 (monocarboxylic acid transporters), member 1|solute carrier family 16, member 1 (monocarboxylic acid transporter 1) 20141207 9606 6573 SLC19A1 - CHMD|FOLT|IFC1|REFC|RFC1 MIM:600424|HGNC:HGNC:10937|Ensembl:ENSG00000173638|HPRD:02691|Vega:OTTHUMG00000090397 21 21q22.3 solute carrier family 19 (folate transporter), member 1 protein-coding SLC19A1 solute carrier family 19 (folate transporter), member 1 O IFC-1|RFC|folate transporter 1|intestinal folate carrier 1|placental folate transporter|reduced folate carrier protein|solute carrier family 19 member 1 20141212 9606 6576 SLC25A1 - CTP|D2L2AD|SEA|SLC20A3 MIM:190315|HGNC:HGNC:10979|Ensembl:ENSG00000100075|HPRD:01832|Vega:OTTHUMG00000150123 22 22q11.21 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 protein-coding SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 O citrate transport protein|solute carrier family 20 (mitochondrial citrate transporter), member 3|tricarboxylate carrier protein|tricarboxylate transport protein, mitochondrial 20141207 9606 6579 SLCO1A2 - OATP|OATP-A|OATP1A2|SLC21A3 MIM:602883|HGNC:HGNC:10956|Ensembl:ENSG00000084453|HPRD:09112|Vega:OTTHUMG00000156259 12 12p12 solute carrier organic anion transporter family, member 1A2 protein-coding SLCO1A2 solute carrier organic anion transporter family, member 1A2 O OATP-1|organic anion transporting polypeptide A|organic anion-transporting polypeptide 1|sodium-independent organic anion transporter|solute carrier family 21 (organic anion transporter), member 3|solute carrier family 21 member 3|solute carrier organic anion transporter family member 1A2 20141207 9606 6580 SLC22A1 - HOCT1|OCT1|oct1_cds MIM:602607|HGNC:HGNC:10963|Ensembl:ENSG00000175003|HPRD:04007|Vega:OTTHUMG00000015947 6 6q25.3 solute carrier family 22 (organic cation transporter), member 1 protein-coding SLC22A1 solute carrier family 22 (organic cation transporter), member 1 O organic cation transporter 1|solute carrier family 22 member 1 20141222 9606 6581 SLC22A3 RP11-72O9.3 EMT|EMTH|OCT3 MIM:604842|HGNC:HGNC:10967|Ensembl:ENSG00000146477|HPRD:05328|Vega:OTTHUMG00000015953 6 6q25.3 solute carrier family 22 (organic cation transporter), member 3 protein-coding SLC22A3 solute carrier family 22 (organic cation transporter), member 3 O EMT organic cation transporter 3|extraneuronal monoamine transporter|organic cation transporter 3|solute carrier family 22 (extraneuronal monoamine transporter), member 3|solute carrier family 22 member 3 20141207 9606 6582 SLC22A2 RP11-317M22.2 OCT2 MIM:602608|HGNC:HGNC:10966|Ensembl:ENSG00000112499|HPRD:04008|Vega:OTTHUMG00000015950 6 6q25.3 solute carrier family 22 (organic cation transporter), member 2 protein-coding SLC22A2 solute carrier family 22 (organic cation transporter), member 2 O organic cation transporter 2|solute carrier family 22 member 2 20141222 9606 6604 SMARCD3 - BAF60C|CRACD3|Rsc6p MIM:601737|HGNC:HGNC:11108|Ensembl:ENSG00000082014|HPRD:03440|Vega:OTTHUMG00000157431 7 7q35-q36 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 protein-coding SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 O 60 kDa BRG-1/Brm-associated factor subunit C|BRG1-associated factor 60C|SWI/SNF complex 60 kDa subunit C|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3|Swp73-like protein|chromatin remodeling complex BAF60C subunit|mammalian chromatin remodeling complex BRG1-associated factor 60C 20141207 9606 6606 SMN1 - BCD541|GEMIN1|SMA|SMA1|SMA2|SMA3|SMA4|SMA@|SMN|SMNT|T-BCD541|TDRD16A MIM:600354|HGNC:HGNC:11117|Ensembl:ENSG00000172062|HPRD:02646|Vega:OTTHUMG00000099361 5 5q13.2 survival of motor neuron 1, telomeric protein-coding SMN1 survival of motor neuron 1, telomeric O component of gems 1|gemin-1|survival motor neuron 1 protein|survival motor neuron protein|tudor domain containing 16A 20141219 9606 6607 SMN2 - BCD541|C-BCD541|GEMIN1|SMNC|TDRD16B MIM:601627|HGNC:HGNC:11118|Ensembl:ENSG00000205571|HPRD:09036|Vega:OTTHUMG00000099389 5 5q13.2 survival of motor neuron 2, centromeric protein-coding SMN2 survival of motor neuron 2, centromeric O component of gems 1|gemin-1|survival motor neuron protein|tudor domain containing 16B 20141219 9606 6609 SMPD1 - ASM|ASMASE|NPD MIM:607608|HGNC:HGNC:11120|Ensembl:ENSG00000166311|HPRD:06353|Vega:OTTHUMG00000165453 11 11p15.4-p15.1 sphingomyelin phosphodiesterase 1, acid lysosomal protein-coding SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal O acid sphingomyelinase|sphingomyelin phosphodiesterase 20141219 9606 6610 SMPD2 RP5-919F19.2 ISC1|NSMASE|NSMASE1 MIM:603498|HGNC:HGNC:11121|Ensembl:ENSG00000135587|HPRD:04608|Vega:OTTHUMG00000015348 6 6q21 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) protein-coding SMPD2 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) O N-SMase|lyso-PAF-PLC|lyso-platelet-activating factor-phospholipase C|neutral sphingomyelinase|sphingomyelin phosphodiesterase 2 20141207 9606 6611 SMS - MRSR|SPMSY|SRS|SpS MIM:300105|HGNC:HGNC:11123|Ensembl:ENSG00000102172|HPRD:02115|Vega:OTTHUMG00000021239 X Xp22.1 spermine synthase protein-coding SMS spermine synthase O spermidine aminopropyltransferase 20141219 9606 6616 SNAP25 - RIC-4|RIC4|SEC9|SNAP|SNAP-25|bA416N4.2|dJ1068F16.2 MIM:600322|HGNC:HGNC:11132|Ensembl:ENSG00000132639|HPRD:02637|Vega:OTTHUMG00000031863 20 20p12-p11.2 synaptosomal-associated protein, 25kDa protein-coding SNAP25 synaptosomal-associated protein, 25kDa O SUP|resistance to inhibitors of cholinesterase 4 homolog|super protein|synaptosomal-associated protein 25|synaptosomal-associated protein, 25kD 20141214 9606 6628 SNRPB - COD|SNRPB1|Sm-B/B'|SmB/B'|SmB/SmB'|snRNP-B MIM:182282|HGNC:HGNC:11153|Ensembl:ENSG00000125835|HPRD:01655|Vega:OTTHUMG00000031694 20 20p13 small nuclear ribonucleoprotein polypeptides B and B1 protein-coding SNRPB small nuclear ribonucleoprotein polypeptides B and B1 O B polypeptide of Sm protein|Sm protein B/B'|sm-B/Sm-B'|small nuclear ribonucleoprotein polypeptide B|small nuclear ribonucleoprotein polypeptides B and B'|small nuclear ribonucleoprotein-associated proteins B and B' 20141207 9606 6632 SNRPD1 - HsT2456|SMD1|SNRPD|Sm-D1 MIM:601063|HGNC:HGNC:11158|Ensembl:ENSG00000167088|HPRD:03040|Vega:OTTHUMG00000178934 18 18q11.2 small nuclear ribonucleoprotein D1 polypeptide 16kDa protein-coding SNRPD1 small nuclear ribonucleoprotein D1 polypeptide 16kDa O Sm-D autoantigen|small nuclear ribonucleoprotein D1 polypeptide 16kDa pseudogene|small nuclear ribonucleoprotein Sm D1|snRNP core protein D1 20141207 9606 6633 SNRPD2 - SMD2|SNRPD1|Sm-D2 MIM:601061|HGNC:HGNC:11159|Ensembl:ENSG00000125743|HPRD:03038|Vega:OTTHUMG00000182130 19 19q13.2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa protein-coding SNRPD2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa O small nuclear ribonucleoprotein Sm D2|snRNP core protein D2 20141207 9606 6634 SNRPD3 - SMD3|Sm-D3 MIM:601062|HGNC:HGNC:11160|HPRD:03039 22 22q11.23 small nuclear ribonucleoprotein D3 polypeptide 18kDa protein-coding SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa O small nuclear ribonucleoprotein Sm D3|snRNP core protein D3 20141217 9606 6635 SNRPE - B-raf|HYPT11|SME|Sm-E MIM:128260|HGNC:HGNC:11161|HPRD:00548 1 1q32 small nuclear ribonucleoprotein polypeptide E protein-coding SNRPE small nuclear ribonucleoprotein polypeptide E O sm protein E|small nuclear ribonucleoprotein E|snRNP-E 20141207 9606 6636 SNRPF - SMF|Sm-F|snRNP-F MIM:603541|HGNC:HGNC:11162|HPRD:04645 12 12q23.1 small nuclear ribonucleoprotein polypeptide F protein-coding SNRPF small nuclear ribonucleoprotein polypeptide F O sm protein F|small nuclear ribonucleoprotein F 20141207 9606 6637 SNRPG - SMG|Sm-G MIM:603542|HGNC:HGNC:11163|Ensembl:ENSG00000143977|HPRD:04646|Vega:OTTHUMG00000129670 2 2p13.3 small nuclear ribonucleoprotein polypeptide G protein-coding SNRPG small nuclear ribonucleoprotein polypeptide G O sm protein G|small nuclear ribonucleoprotein G|snRNP-G 20141215 9606 6652 SORD - HEL-S-95n|SORD1 MIM:182500|HGNC:HGNC:11184|HPRD:01679 15 15q15.3 sorbitol dehydrogenase protein-coding SORD sorbitol dehydrogenase O L-iditol 2-dehydrogenase|epididymis secretory sperm binding protein Li 95n 20141207 9606 6675 UAP1 - AGX|AGX1|AGX2|SPAG2 MIM:602862|HGNC:HGNC:12457|Ensembl:ENSG00000117143|HPRD:04178|Vega:OTTHUMG00000034419 1 1q23.3 UDP-N-acetylglucosamine pyrophosphorylase 1 protein-coding UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 O UDP-N-acetylhexosamine pyrophosphorylase|antigen X|sperm associated antigen 2|sperm-associated antigen 2 20141207 9606 6713 SQLE - - MIM:602019|HGNC:HGNC:11279|Ensembl:ENSG00000104549|HPRD:11802|Vega:OTTHUMG00000164990 8 8q24.1 squalene epoxidase protein-coding SQLE squalene epoxidase O SE|squalene monooxygenase 20141207 9606 6715 SRD5A1 - S5AR 1 MIM:184753|HGNC:HGNC:11284|Ensembl:ENSG00000145545|HPRD:01699|Vega:OTTHUMG00000090456 5 5p15 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) protein-coding SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) O 3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1|3-oxo-5-alpha-steroid 4-dehydrogenase 1|5-alpha reductase|SR type 1|steroid 5-alpha-reductase 1|steroid 5-alpha-reductase type I 20141207 9606 6716 SRD5A2 - - MIM:607306|HGNC:HGNC:11285|HPRD:07390 2 2p23 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) protein-coding SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) O 3-oxo-5-alpha-steroid 4-dehydrogenase 2|5 alpha-SR2|S5AR 2|SR type 2|steroid 5-alpha-reductase 2|type II 5-alpha reductase 20141211 9606 6718 AKR1D1 - 3o5bred|CBAS2|SRD5B1 MIM:604741|HGNC:HGNC:388|Ensembl:ENSG00000122787|HPRD:07263|Vega:OTTHUMG00000155787 7 7q32-q33 aldo-keto reductase family 1, member D1 protein-coding AKR1D1 aldo-keto reductase family 1, member D1 O 3-oxo-5-beta-steroid 4-dehydrogenase|delta 4-3-ketosteroid-5-beta-reductase|delta(4)-3-ketosteroid 5-beta-reductase|delta(4)-3-oxosteroid 5-beta-reductase|steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1) 20141211 9606 6720 SREBF1 - SREBP-1c|SREBP1|bHLHd1 MIM:184756|HGNC:HGNC:11289|Ensembl:ENSG00000072310|HPRD:01701|Vega:OTTHUMG00000059313 17 17p11.2 sterol regulatory element binding transcription factor 1 protein-coding SREBF1 sterol regulatory element binding transcription factor 1 O SREBP-1|class D basic helix-loop-helix protein 1|sterol regulatory element-binding protein 1 20141222 9606 6721 SREBF2 CTA-250D10.14-005 SREBP-2|SREBP2|bHLHd2 MIM:600481|HGNC:HGNC:11290|Ensembl:ENSG00000198911|HPRD:02726|Vega:OTTHUMG00000151261 22 22q13 sterol regulatory element binding transcription factor 2 protein-coding SREBF2 sterol regulatory element binding transcription factor 2 O class D basic helix-loop-helix protein 2|sterol regulatory element-binding protein 2|sterol regulatory element-binding transcription factor 2 20141207 9606 6723 SRM - PAPT|SPDSY|SPS1|SRML1 MIM:182891|HGNC:HGNC:11296|Ensembl:ENSG00000116649|HPRD:01692|Vega:OTTHUMG00000002119 1 1p36-p22 spermidine synthase protein-coding SRM spermidine synthase O putrescine aminopropyltransferase|spermidine synthase-1 20141207 9606 6726 SRP9 - ALURBP MIM:600707|HGNC:HGNC:11304|Ensembl:ENSG00000143742|HPRD:02830|Vega:OTTHUMG00000037738 1 1q42.12 signal recognition particle 9kDa protein-coding SRP9 signal recognition particle 9kDa O signal recognition particle 9 kDa protein|signal recognition particle 9kD 20141207 9606 6727 SRP14 - ALURBP MIM:600708|HGNC:HGNC:11299|Ensembl:ENSG00000140319|HPRD:02831|Vega:OTTHUMG00000172391 15 15q22 signal recognition particle 14kDa (homologous Alu RNA binding protein) protein-coding SRP14 signal recognition particle 14kDa (homologous Alu RNA binding protein) O 18 kDa Alu RNA-binding protein|signal recognition particle 14 kDa protein 20141207 9606 6728 SRP19 - - MIM:182175|HGNC:HGNC:11300|Ensembl:ENSG00000153037|HPRD:01644 5 5q21-q22 signal recognition particle 19kDa protein-coding SRP19 signal recognition particle 19kDa O signal recognition particle 19 kDa protein|signal recognition particle 19kD 20141207 9606 6729 SRP54 - - MIM:604857|HGNC:HGNC:11301|Ensembl:ENSG00000100883|HPRD:05330|Vega:OTTHUMG00000140214 14 14q13.2 signal recognition particle 54kDa protein-coding SRP54 signal recognition particle 54kDa O signal recognition particle 54 kDa protein|signal recognition particle 54kD 20141207 9606 6730 SRP68 - - MIM:604858|HGNC:HGNC:11302|Ensembl:ENSG00000167881|HPRD:05331|Vega:OTTHUMG00000180054 17 17q25.1 signal recognition particle 68kDa protein-coding SRP68 signal recognition particle 68kDa O signal recognition particle 68 kDa protein|signal recognition particle 68kD|signal recognition particle subunit SRP68 20141207 9606 6731 SRP72 - BMFF|BMFS1|HEL103 MIM:602122|HGNC:HGNC:11303|HPRD:03671 4 4q11 signal recognition particle 72kDa protein-coding SRP72 signal recognition particle 72kDa O epididymis luminal protein 103|signal recognition particle 72 kDa protein|signal recognition particle 72kD|signal recognition particle subunit SRP72 20141207 9606 6734 SRPR - DP|Sralpha MIM:182180|HGNC:HGNC:11307|Ensembl:ENSG00000182934|HPRD:01645|Vega:OTTHUMG00000165826 11 11q24.2 signal recognition particle receptor (docking protein) protein-coding SRPR signal recognition particle receptor (docking protein) O DP-alpha|SR-alpha|SRP-alpha|docking protein alpha|signal recognition particle receptor subunit alpha 20141207 9606 6745 SSR1 PSEC0262 TRAPA MIM:600868|HGNC:HGNC:11323|Ensembl:ENSG00000124783|HPRD:02924|Vega:OTTHUMG00000014202 6 6p24.3 signal sequence receptor, alpha protein-coding SSR1 signal sequence receptor, alpha O SSR alpha subunit|SSR-alpha|TRAP alpha|TRAP-alpha|signal sequence receptor subunit alpha|translocon-associated protein alpha subunit|translocon-associated protein subunit alpha 20141207 9606 6746 SSR2 HSD25 TLAP|TRAP-BETA|TRAPB MIM:600867|HGNC:HGNC:11324|Ensembl:ENSG00000163479|HPRD:02923|Vega:OTTHUMG00000017456 1 1q21-q23 signal sequence receptor, beta (translocon-associated protein beta) protein-coding SSR2 signal sequence receptor, beta (translocon-associated protein beta) O SSR-beta|signal sequence receptor subunit beta|translocon-associated protein beta|translocon-associated protein subunit beta 20141207 9606 6747 SSR3 - TRAPG MIM:606213|HGNC:HGNC:11325|Ensembl:ENSG00000114850|HPRD:16206|Vega:OTTHUMG00000158632 3 3q25.31 signal sequence receptor, gamma (translocon-associated protein gamma) protein-coding SSR3 signal sequence receptor, gamma (translocon-associated protein gamma) O SSR gamma|SSR-gamma|TRAP-complex gamma subunit|TRAP-gamma|signal sequence receptor subunit gamma|translocon-associated protein gamma subunit|translocon-associated protein subunit gamma 20141207 9606 6748 SSR4 - CDG1Y|TRAPD MIM:300090|HGNC:HGNC:11326|Ensembl:ENSG00000180879|HPRD:02101|Vega:OTTHUMG00000024212 X Xq28 signal sequence receptor, delta protein-coding SSR4 signal sequence receptor, delta O SSR-delta|TRAP-delta|translocon-associated protein subunit delta 20141219 9606 6770 STAR - STARD1 MIM:600617|HGNC:HGNC:11359|HPRD:02794 8 8p11.2 steroidogenic acute regulatory protein protein-coding STAR steroidogenic acute regulatory protein O START domain containing 1|START domain-containing protein 1|StAR-related lipid transfer (START) domain containing 1|cholesterol trafficker|mitochondrial steroid acute regulatory protein|steroid acute regulatory protein|steroidogenic acute regulator|steroidogenic acute regulatory protein, mitochondrial 20141207 9606 6783 SULT1E1 - EST|EST-1|ST1E1|STE MIM:600043|HGNC:HGNC:11377|Ensembl:ENSG00000109193|HPRD:08966|Vega:OTTHUMG00000129403 4 4q13.1 sulfotransferase family 1E, estrogen-preferring, member 1 protein-coding SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 O estrogen sulfotransferase|estrone sulfotransferase|sulfotransferase 1E1|sulfotransferase, estrogen-preferring 20141207 9606 6785 ELOVL4 - ADMD|CT118|ISQMR|SCA34|STGD2|STGD3 MIM:605512|HGNC:HGNC:14415|Ensembl:ENSG00000118402|HPRD:05697|Vega:OTTHUMG00000015087 6 6q14 ELOVL fatty acid elongase 4 protein-coding ELOVL4 ELOVL fatty acid elongase 4 O 3-keto acyl-CoA synthase ELOVL4|ELOVL FA elongase 4|cancer/testis antigen 118|elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4|elongation of very long chain fatty acids protein 4|very-long-chain 3-oxoacyl-CoA synthase 4 20141207 9606 6794 STK11 - LKB1|PJS|hLKB1 MIM:602216|HGNC:HGNC:11389|Ensembl:ENSG00000118046|HPRD:03740 19 19p13.3 serine/threonine kinase 11 protein-coding STK11 serine/threonine kinase 11 O liver kinase B1|polarization-related protein LKB1|renal carcinoma antigen NY-REN-19|serine/threonine-protein kinase 11|serine/threonine-protein kinase LKB1|serine/threonine-protein kinase STK11 20141222 9606 6799 SULT1A2 - HAST4|P-PST|ST1A2|STP2|TSPST2 MIM:601292|HGNC:HGNC:11454|Ensembl:ENSG00000197165|HPRD:03187|Vega:OTTHUMG00000048082 16 16p12.1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 protein-coding SULT1A2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 O P-PST 2|aryl sulfotransferase 2|arylamine sulfotransferase|phenol sulfotransferase 2|phenol-preferring phenol sulfotransferase2|phenol-sulfating phenol sulfotransferase 2|phenolic-metabolizing (P) form of PST|sulfotransferase 1A2|thermostable phenol sulfotransferase 20141207 9606 6804 STX1A - HPC-1|P35-1|STX1|SYN1A MIM:186590|HGNC:HGNC:11433|Ensembl:ENSG00000106089|HPRD:01721|Vega:OTTHUMG00000137422 7 7q11.23 syntaxin 1A (brain) protein-coding STX1A syntaxin 1A (brain) O neuron-specific antigen HPC-1|syntaxin-1A 20141214 9606 6812 STXBP1 RP11-56D16.3 MUNC18-1|NSEC1|P67|RBSEC1|UNC18 MIM:602926|HGNC:HGNC:11444|Ensembl:ENSG00000136854|HPRD:04235|Vega:OTTHUMG00000020713 9 9q34.1 syntaxin binding protein 1 protein-coding STXBP1 syntaxin binding protein 1 O N-Sec1|neuronal SEC1|protein unc-18 homolog 1|protein unc-18 homolog A|syntaxin-binding protein 1|unc-18A|unc18-1 20141207 9606 6817 SULT1A1 OK/SW-cl.88 HAST1/HAST2|P-PST|PST|ST1A1|ST1A3|STP|STP1|TSPST1 MIM:171150|HGNC:HGNC:11453|Ensembl:ENSG00000196502|HPRD:01372|Vega:OTTHUMG00000131765 16 16p12.1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 protein-coding SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 O P-PST 1|aryl sulfotransferase 1|phenol-sulfating phenol sulfotransferase 1|sulfotransferase 1A1|thermostable phenol sulfotransferase1|ts-PST 20141207 9606 6818 SULT1A3 - HAST|HAST3|M-PST|ST1A3|ST1A3/ST1A4|ST1A5|STM|TL-PST MIM:600641|HGNC:HGNC:11455|Ensembl:ENSG00000261052|HPRD:07199|Vega:OTTHUMG00000048083 16 16p11.2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 protein-coding SULT1A3 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 O aryl sulfotransferase 1A3/1A4|catecholamine-sulfating phenol sulfotransferase|dopamine-specific sulfotransferase|monoamine-sulfating phenosulfotransferase|phenol sulfotransferase 1A5|placental estrogen sulfotransferase|sulfokinase|sulfotransferase 1A3|thermolabile (monoamine, M form) phenol sulfotransferase 20141207 9606 6820 SULT2B1 - HSST2 MIM:604125|HGNC:HGNC:11459|Ensembl:ENSG00000088002|HPRD:04991|Vega:OTTHUMG00000183314 19 19q13.3 sulfotransferase family, cytosolic, 2B, member 1 protein-coding SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 O ST2B1|alcohol sulfotransferase|hydroxysteroid sulfotransferase 2|sulfotransferase 2B1|sulfotransferase family cytosolic 2B member 1 20141207 9606 6821 SUOX - - MIM:606887|HGNC:HGNC:11460|Ensembl:ENSG00000139531|HPRD:06055|Vega:OTTHUMG00000128503 12 12q13.2 sulfite oxidase protein-coding SUOX sulfite oxidase O sulfite oxidase, mitochondrial 20141207 9606 6822 SULT2A1 - DHEA-ST|DHEAS|HST|ST2|ST2A1|ST2A3|STD|hSTa MIM:125263|HGNC:HGNC:11458|Ensembl:ENSG00000105398|HPRD:00502|Vega:OTTHUMG00000162469 19 19q13.3 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 protein-coding SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 O alcohol/hydroxysteroid sulfotransferase|bile salt sulfotransferase|bile-salt sulfotranasferase 2A1 20141211 9606 6833 ABCC8 - ABC36|HHF1|HI|HRINS|MRP8|PHHI|SUR|SUR1|SUR1delta2|TNDM2 MIM:600509|HGNC:HGNC:59|Ensembl:ENSG00000006071|HPRD:02741|Vega:OTTHUMG00000166316 11 11p15.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 protein-coding ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 O ATP-binding cassette sub-family C member 8|ATP-binding cassette transporter sub-family C member 8|sulfonylurea receptor (hyperinsulinemia)|sulfonylurea receptor 1 20141222 9606 6837 MED22 RP11-244N20.9 MED24|SURF5|surf-5 MIM:185641|HGNC:HGNC:11477|Ensembl:ENSG00000148297|HPRD:01713|Vega:OTTHUMG00000020869 9 9q34.2 mediator complex subunit 22 protein-coding MED22 mediator complex subunit 22 O mediator of RNA polymerase II transcription subunit 22|surfeit locus protein 5 20141207 9606 6844 VAMP2 - SYB2|VAMP-2 MIM:185881|HGNC:HGNC:12643|Ensembl:ENSG00000220205|HPRD:01717|Vega:OTTHUMG00000150254 17 17p13.1 vesicle-associated membrane protein 2 (synaptobrevin 2) protein-coding VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2) O synaptobrevin 2|synaptobrevin-2|vesicle associated membrane protein 2|vesicle-associated membrane protein 2 20141207 9606 6861 SYT5 - - MIM:600782|HGNC:HGNC:11513|HPRD:02870 19 19q13.42|11p synaptotagmin V protein-coding SYT5 synaptotagmin V O synaptotagmin 5|synaptotagmin-5|sytV 20141207 9606 6888 TALDO1 - TAL|TAL-H|TALDOR|TALH MIM:602063|HGNC:HGNC:11559|Ensembl:ENSG00000177156|HPRD:03640|Vega:OTTHUMG00000133318 11 11p15.5-p15.4 transaldolase 1 protein-coding TALDO1 transaldolase 1 O dihydroxyacetone transferase|glycerone transferase|transaldolase 20141207 9606 6898 TAT - - MIM:613018|HGNC:HGNC:11573|HPRD:11776 16 16q22.1 tyrosine aminotransferase protein-coding TAT tyrosine aminotransferase O L-tyrosine:2-oxoglutarate aminotransferase|tyrosine aminotransferase, cytosolic 20141207 9606 6901 TAZ XX-FW83563B9.3 BTHS|CMD3A|EFE|EFE2|G4.5|LVNCX|Taz1 MIM:300394|HGNC:HGNC:11577|Ensembl:ENSG00000102125|HPRD:02316|Vega:OTTHUMG00000033190 X Xq28 tafazzin protein-coding TAZ tafazzin O protein G4.5 20141221 9606 6902 TBCA - - MIM:610058|HGNC:HGNC:11579|Ensembl:ENSG00000171530|HPRD:18166|Vega:OTTHUMG00000102173 5 5q14.1 tubulin folding cofactor A protein-coding TBCA tubulin folding cofactor A O CFA|TCP1-chaperonin cofactor A|chaperonin cofactor A|tubulin-folding cofactor A|tubulin-specific chaperone A 20141207 9606 6903 TBCC - CFC MIM:602971|HGNC:HGNC:11580|Ensembl:ENSG00000124659|HPRD:04276|Vega:OTTHUMG00000014704 6 6p21.1 tubulin folding cofactor C protein-coding TBCC tubulin folding cofactor C O tubulin-folding cofactor C|tubulin-specific chaperone C 20141207 9606 6904 TBCD PP1096 SSD-1|tfcD MIM:604649|HGNC:HGNC:11581|Ensembl:ENSG00000141556|HPRD:05227|Vega:OTTHUMG00000177878 17 17q25.3 tubulin folding cofactor D protein-coding TBCD tubulin folding cofactor D O beta-tubulin cofactor D|tubulin-folding cofactor D|tubulin-specific chaperone D 20141207 9606 6905 TBCE - HRD|KCS|KCS1|pac2 MIM:604934|HGNC:HGNC:11582|Ensembl:ENSG00000116957|HPRD:05381|Vega:OTTHUMG00000039987 1 1q42.3 tubulin folding cofactor E protein-coding TBCE tubulin folding cofactor E O hypoparathyroidism, growth and mental retardation, and dysmorphism|tubulin-specific chaperone E 20141207 9606 6907 TBL1X - EBI|SMAP55|TBL1 MIM:300196|HGNC:HGNC:11585|Ensembl:ENSG00000101849|HPRD:02183|Vega:OTTHUMG00000021117 X Xp22.3 transducin (beta)-like 1X-linked protein-coding TBL1X transducin (beta)-like 1X-linked O F-box-like/WD repeat-containing protein TBL1X|transducin beta-like protein 1X|transducin-beta-like protein 1, X-linked 20141207 9606 6916 TBXAS1 - BDPLT14|CYP5|CYP5A1|GHOSAL|THAS|TS|TXAS|TXS MIM:274180|HGNC:HGNC:11609|Ensembl:ENSG00000059377|HPRD:02035|Vega:OTTHUMG00000157302 7 7q34-q35 thromboxane A synthase 1 (platelet) protein-coding TBXAS1 thromboxane A synthase 1 (platelet) O TXA synthase|cytochrome P450 5A1|cytochrome P450, family 5, subfamily A, polypeptide 1|platelet, cytochrome P450, subfamily V|thromboxane-A synthase 20141207 9606 6945 MLX - MAD7|MXD7|TCFL4|bHLHd13 MIM:602976|HGNC:HGNC:11645|Ensembl:ENSG00000108788|HPRD:04278|Vega:OTTHUMG00000180246 17 17q21.1 MLX, MAX dimerization protein protein-coding MLX MLX, MAX dimerization protein O BigMax protein|MAX-like bHLHZIP protein|class D basic helix-loop-helix protein 13|max-like protein X|transcription factor-like protein 4 20141207 9606 6950 TCP1 - CCT-alpha|CCT1|CCTa|D6S230E|TCP-1-alpha MIM:186980|HGNC:HGNC:11655|Ensembl:ENSG00000120438|HPRD:01748|Vega:OTTHUMG00000015937 6 6q25.3-q26 t-complex 1 protein-coding TCP1 t-complex 1 O T-complex protein 1 subunit alpha|T-complex protein 1, alpha subunit|tailless complex polypeptide 1 20141222 9606 6999 TDO2 - TDO|TO|TPH2|TRPO MIM:191070|HGNC:HGNC:11708|Ensembl:ENSG00000151790|HPRD:01847|Vega:OTTHUMG00000161838 4 4q31-q32 tryptophan 2,3-dioxygenase protein-coding TDO2 tryptophan 2,3-dioxygenase O TDO|TO|TRPO|tryptamin 2,3-dioxygenase|tryptophan oxygenase|tryptophan pyrrolase|tryptophanase 20141211 9606 7003 TEAD1 - AA|NTEF-1|REF1|TCF-13|TCF13|TEAD-1|TEF-1 MIM:189967|HGNC:HGNC:11714|Ensembl:ENSG00000187079|HPRD:01802 11 11p15.2 TEA domain family member 1 (SV40 transcriptional enhancer factor) protein-coding TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor) O protein GT-IIC|transcription factor 13|transcriptional enhancer factor 1|transcriptional enhancer factor TEF-1 20141207 9606 7004 TEAD4 - EFTR-2|RTEF1|TCF13L1|TEF-3|TEF3|TEFR-1|hRTEF-1B MIM:601714|HGNC:HGNC:11717|Ensembl:ENSG00000197905|HPRD:03421|Vega:OTTHUMG00000168153 12 12p13.3-p13.2 TEA domain family member 4 protein-coding TEAD4 TEA domain family member 4 O related transcription enhancer factor 1B|transcription factor 13-like 1|transcription factor RTEF-1|transcriptional enhancer factor 1-related|transcriptional enhancer factor 3|transcriptional enhancer factor TEF-3 20141207 9606 7005 TEAD3 RP1-109F14.4 DTEF-1|ETFR-1|TEAD-3|TEAD5|TEF-5|TEF5 MIM:603170|HGNC:HGNC:11716|Ensembl:ENSG00000007866|HPRD:04411|Vega:OTTHUMG00000014571 6 6p21.2 TEA domain family member 3 protein-coding TEAD3 TEA domain family member 3 O TEA domain family member 5|transcriptional enhancer factor 5|transcriptional enhancer factor TEF-5|transcriptional enhancer factor TEF-5 (DTEF-1) 20141207 9606 7054 TH - DYT14|DYT5b|TYH MIM:191290|HGNC:HGNC:11782|Ensembl:ENSG00000180176|HPRD:01865|Vega:OTTHUMG00000009559 11 11p15.5 tyrosine hydroxylase protein-coding TH tyrosine hydroxylase O dystonia 14|tyrosine 3-hydroxylase|tyrosine 3-monooxygenase 20141219 9606 7083 TK1 - TK2 MIM:188300|HGNC:HGNC:11830|Ensembl:ENSG00000167900|HPRD:01771|Vega:OTTHUMG00000150674 17 17q23.2-q25.3 thymidine kinase 1, soluble protein-coding TK1 thymidine kinase 1, soluble O thymidine kinase 1 soluble isoform|thymidine kinase, cytosolic|thymidine kinase-1 20141207 9606 7084 TK2 - MTDPS2|MTTK|SCA31 MIM:188250|HGNC:HGNC:11831|Ensembl:ENSG00000166548|HPRD:01770 16 16q22-q23.1 thymidine kinase 2, mitochondrial protein-coding TK2 thymidine kinase 2, mitochondrial O mt-TK 20141219 9606 7086 TKT - HEL107|TK|TKT1 MIM:606781|HGNC:HGNC:11834|Ensembl:ENSG00000163931|HPRD:06001|Vega:OTTHUMG00000158192 3 3p14.3 transketolase protein-coding TKT transketolase O epididymis luminal protein 107 20141211 9606 7108 TM7SF2 - ANG1|DHCR14A|NET47 MIM:603414|HGNC:HGNC:11863|Ensembl:ENSG00000149809|HPRD:04564|Vega:OTTHUMG00000165603 11 11q13 transmembrane 7 superfamily member 2 protein-coding TM7SF2 transmembrane 7 superfamily member 2 O C-14 sterol reductase|another new gene 1 protein|delta(14)-sterol reductase|delta-14-SR|putative sterol reductase SR-1|sterol C14-reductase 20141207 9606 7157 TP53 - BCC7|LFS1|P53|TRP53 MIM:191170|HGNC:HGNC:11998|Ensembl:ENSG00000141510|HPRD:01859|Vega:OTTHUMG00000162125 17 17p13.1 tumor protein p53 protein-coding TP53 tumor protein p53 O antigen NY-CO-13|cellular tumor antigen p53|mutant tumor protein 53|p53 tumor suppressor|phosphoprotein p53|transformation-related protein 53|tumor protein 53 20141222 9606 7166 TPH1 - TPRH|TRPH MIM:191060|HGNC:HGNC:12008|HPRD:01846 11 11p15.3-p14 tryptophan hydroxylase 1 protein-coding TPH1 tryptophan hydroxylase 1 O L-tryptophan hydroxylase|indoleacetic acid-5-hydroxylase|tryptophan 5-hydroxylase 1|tryptophan 5-monooxygenase 1|tryptophan hydroxylase (tryptophan 5-monooxygenase) 20141207 9606 7167 TPI1 - HEL-S-49|TIM|TPI|TPID MIM:190450|HGNC:HGNC:12009|Ensembl:ENSG00000111669|HPRD:01833|Vega:OTTHUMG00000133767 12 12p13 triosephosphate isomerase 1 protein-coding TPI1 triosephosphate isomerase 1 O epididymis secretory protein Li 49|triose-phosphate isomerase|triosephosphate isomerase 20141207 9606 7172 TPMT - - MIM:187680|HGNC:HGNC:12014|Ensembl:ENSG00000137364|HPRD:01760|Vega:OTTHUMG00000014317 6 6p22.3 thiopurine S-methyltransferase protein-coding TPMT thiopurine S-methyltransferase O S-adenosyl-L-methionine:thiopurine S-methyltransferase 20141222 9606 7173 TPO - MSA|TDH2A|TPX MIM:606765|HGNC:HGNC:12015|Ensembl:ENSG00000115705|HPRD:06000|Vega:OTTHUMG00000090271 2 2p25 thyroid peroxidase protein-coding TPO thyroid peroxidase O thyroid microsomal antigen|thyroperoxidase 20141222 9606 7175 TPR - - MIM:189940|HGNC:HGNC:12017|Ensembl:ENSG00000047410|HPRD:08927|Vega:OTTHUMG00000035580 1 1q25 translocated promoter region, nuclear basket protein protein-coding TPR translocated promoter region, nuclear basket protein O NPC-associated intranuclear protein|megator|nuclear pore complex-associated protein TPR|nucleoprotein TPR|translocated promoter region (to activated MET oncogene)|translocated promoter region protein|tumor potentiating region 20141221 9606 7203 CCT3 RP11-443G18.6 CCT-gamma|CCTG|PIG48|TCP-1-gamma|TRIC5 MIM:600114|HGNC:HGNC:1616|Ensembl:ENSG00000163468|HPRD:08969|Vega:OTTHUMG00000024061 1 1q23 chaperonin containing TCP1, subunit 3 (gamma) protein-coding CCT3 chaperonin containing TCP1, subunit 3 (gamma) O T-complex protein 1 subunit gamma|T-complex protein 1, gamma subunit|TCP1 (t-complex-1) ring complex, polypeptide 5|hTRiC5 20141207 9606 7252 TSHB - TSH-B|TSH-BETA MIM:188540|HGNC:HGNC:12372|Ensembl:ENSG00000134200|HPRD:11766 1 1p13 thyroid stimulating hormone, beta protein-coding TSHB thyroid stimulating hormone, beta O thyrotropin beta chain|thyrotropin subunit beta 20141207 9606 7263 TST LL22NC01-146D10.3 RDS MIM:180370|HGNC:HGNC:12388|Ensembl:ENSG00000128311|HPRD:01583|Vega:OTTHUMG00000150533 22 22q13.1 thiosulfate sulfurtransferase (rhodanese) protein-coding TST thiosulfate sulfurtransferase (rhodanese) O thiosulfate sulfurtransferase 20141216 9606 7264 TSTA3 - FX|P35B|SDR4E1 MIM:137020|HGNC:HGNC:12390|Ensembl:ENSG00000104522|HPRD:00654|Vega:OTTHUMG00000165159 8 8q24.3 tissue specific transplantation antigen P35B protein-coding TSTA3 tissue specific transplantation antigen P35B O 3-5 epimerase/4-reductase|GDP-4-keto-6-deoxy-D-mannose epimerase-reductase|GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase|GDP-L-fucose synthase|red cell NADP(H)-binding protein|short chain dehydrogenase/reductase family 4E, member 1|tissue specific transplantation antigen 3 20141207 9606 7277 TUBA4A - H2-ALPHA|TUBA1 MIM:191110|HGNC:HGNC:12407|Ensembl:ENSG00000127824|HPRD:01851|Vega:OTTHUMG00000133126 2 2q35 tubulin, alpha 4a protein-coding TUBA4A tubulin, alpha 4a O tubulin H2-alpha|tubulin alpha-1 chain|tubulin alpha-4A chain|tubulin, alpha 1 (testis specific) 20141207 9606 7278 TUBA3C - TUBA2|bA408E5.3 MIM:602528|HGNC:HGNC:12408|Ensembl:ENSG00000198033|HPRD:03958|Vega:OTTHUMG00000016481 13 13q11 tubulin, alpha 3c protein-coding TUBA3C tubulin, alpha 3c O alpha-tubulin 2|alpha-tubulin 3C/D|tubulin alpha-2 chain|tubulin alpha-3C/D chain|tubulin, alpha 2 20141207 9606 7280 TUBB2A - CDCBM5|TUBB|TUBB2|dJ40E16.7 MIM:615101|HGNC:HGNC:12412|Ensembl:ENSG00000137267|HPRD:01852|Vega:OTTHUMG00000014135 6 6p25 tubulin, beta 2A class IIa protein-coding TUBB2A tubulin, beta 2A class IIa O class IIa beta-tubulin|tubulin beta class IIa|tubulin beta-2A chain|tubulin, beta polypeptide 2 20141207 9606 7295 TXN RP11-427L11.1 TRDX|TRX|TRX1 MIM:187700|HGNC:HGNC:12435|Ensembl:ENSG00000136810|HPRD:01761|Vega:OTTHUMG00000020480 9 9q31 thioredoxin protein-coding TXN thioredoxin O ADF|ATL-derived factor|SASP|TXN delta 3|surface-associated sulphydryl protein|thioredoxin delta 3 20141207 9606 7296 TXNRD1 - GRIM-12|TR|TR1|TRXR1|TXNR MIM:601112|HGNC:HGNC:12437|Ensembl:ENSG00000198431|HPRD:03068|Vega:OTTHUMG00000166481 12 12q23-q24.1 thioredoxin reductase 1 protein-coding TXNRD1 thioredoxin reductase 1 O KM-102-derived reductase-like factor|gene associated with retinoic and IFN-induced mortality 12 protein|gene associated with retinoic and interferon-induced mortality 12 protein|oxidoreductase|thioredoxin reductase 1, cytoplasmic|thioredoxin reductase GRIM-12|thioredoxin reductase TR1 20141222 9606 7298 TYMS OK/SW-cl.29 HST422|TMS|TS MIM:188350|HGNC:HGNC:12441|Ensembl:ENSG00000176890|HPRD:01774|Vega:OTTHUMG00000131473 18 18p11.32 thymidylate synthetase protein-coding TYMS thymidylate synthetase O TSase|thymidylate synthase 20141207 9606 7299 TYR - ATN|CMM8|OCA1|OCA1A|OCAIA|SHEP3 MIM:606933|HGNC:HGNC:12442|Ensembl:ENSG00000077498|HPRD:06086|Vega:OTTHUMG00000167294 11 11q14.3 tyrosinase protein-coding TYR tyrosinase O LB24-AB|SK29-AB|monophenol monooxygenase|oculocutaneous albinism IA|tumor rejection antigen AB 20141219 9606 7306 TYRP1 RP11-3L8.1 CAS2|CATB|GP75|OCA3|TRP|TRP1|TYRP|b-PROTEIN MIM:115501|HGNC:HGNC:12450|Ensembl:ENSG00000107165|HPRD:00283|Vega:OTTHUMG00000021034 9 9p23 tyrosinase-related protein 1 protein-coding TYRP1 tyrosinase-related protein 1 O 5,6-dihydroxyindole-2-carboxylic acid oxidase|DHICA oxidase|catalase B|glycoprotein 75|melanoma antigen gp75 20141207 9606 7311 UBA52 - CEP52|HUBCEP52|L40|RPL40 MIM:191321|HGNC:HGNC:12458|Ensembl:ENSG00000221983|HPRD:08931|Vega:OTTHUMG00000183110 19 19p13.1-p12 ubiquitin A-52 residue ribosomal protein fusion product 1 protein-coding UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 O 60S ribosomal protein L40|ubiquitin carboxyl extension protein 52|ubiquitin-52 amino acid fusion protein|ubiquitin-60S ribosomal protein L40|ubiquitin-CEP52 20141207 9606 7357 UGCG - GCS|GLCT1 MIM:602874|HGNC:HGNC:12524|HPRD:04190 9 9q31 UDP-glucose ceramide glucosyltransferase protein-coding UGCG UDP-glucose ceramide glucosyltransferase O UDP-glucose:N-acylsphingosine D-glucosyltransferase|ceramide glucosyltransferase|glucosylceramide synthase 20141217 9606 7358 UGDH - GDH|UDP-GlcDH|UDPGDH|UGD MIM:603370|HGNC:HGNC:12525|Ensembl:ENSG00000109814|HPRD:04535|Vega:OTTHUMG00000099371 4 4p15.1 UDP-glucose 6-dehydrogenase protein-coding UGDH UDP-glucose 6-dehydrogenase O UDP-Glc dehydrogenase|UDP-glucose dehydrogenase|uridine diphospho-glucose dehydrogenase 20141207 9606 7360 UGP2 - UDPG|UDPGP|UDPGP2|UGP1|UGPP1|UGPP2|pHC379 MIM:191760|HGNC:HGNC:12527|Ensembl:ENSG00000169764|HPRD:08934|Vega:OTTHUMG00000129513 2 2p14-p13 UDP-glucose pyrophosphorylase 2 protein-coding UGP2 UDP-glucose pyrophosphorylase 2 O UDP-glucose diphosphorylase|UDP-glucose pyrophosphorylase 1|UGPase 2|UTP--glucose-1-phosphate uridylyltransferase|UTP--glucose-1-phosphate uridylyltransferase 2|UTP-glucose-1-phosphate uridyltransferase|Uridyl diphosphate glucose pyrophosphorylase-1|uridyl diphosphate glucose pyrophosphorylase 2 20141207 9606 7363 UGT2B4 - HLUG25|UDPGT2B4|UDPGTH1|UDPGTh-1|UGT2B11 MIM:600067|HGNC:HGNC:12553|Ensembl:ENSG00000156096|HPRD:02507|Vega:OTTHUMG00000058891 4 4q13 UDP glucuronosyltransferase 2 family, polypeptide B4 protein-coding UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4 O UDP-glucuronosyltransferase 2B4|UDP-glucuronyltransferase, family 2, beta-4|UDPGT 2B4|hyodeoxycholic acid|hyodeoxycholic acid-specific UDPGT 20141207 9606 7364 UGT2B7 - UDPGT 2B9|UDPGT2B7|UDPGTH2|UGT2B9 MIM:600068|HGNC:HGNC:12554|Ensembl:ENSG00000171234|HPRD:02508|Vega:OTTHUMG00000129404 4 4q13 UDP glucuronosyltransferase 2 family, polypeptide B7 protein-coding UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7 O 3,4-catechol estrogen specific|3,4-catechol estrogen-specific UDPGT|UDP glucuronosyltransferase 2B7|UDP-glucuronosyltransferase 2B7|UDP-glucuronosyltransferase 2B9|UDP-glucuronyltransferase, family 2, beta-7|UDPGT 2B7|UDPGTh-2 20141207 9606 7365 UGT2B10 - UDPGT2B10 MIM:600070|HGNC:HGNC:12544|HPRD:07193 4 4q13.2 UDP glucuronosyltransferase 2 family, polypeptide B10 protein-coding UGT2B10 UDP glucuronosyltransferase 2 family, polypeptide B10 O UDP-glucuronosyltransferase 2B10|UDPGT 2B10 20141207 9606 7366 UGT2B15 - HLUG4|UDPGT 2B8|UDPGT2B15|UDPGTH3|UGT2B8 MIM:600069|HGNC:HGNC:12546|Ensembl:ENSG00000196620|HPRD:07192|Vega:OTTHUMG00000161507 4 4q13 UDP glucuronosyltransferase 2 family, polypeptide B15 protein-coding UGT2B15 UDP glucuronosyltransferase 2 family, polypeptide B15 O UDP glycosyltransferase 2B15|UDP-glucuronosyltransferase 2B15|UDP-glucuronosyltransferase 2B8|UDP-glucuronosyltransferase UGT2B15|UDP-glucuronyltransferase, family 2, beta-15|UDPGT 2B15|UDPGTh-3 20141207 9606 7367 UGT2B17 - BMND12|UDPGT2B17 MIM:601903|HGNC:HGNC:12547|Ensembl:ENSG00000197888|HPRD:03545|Vega:OTTHUMG00000129305 4 4q13 UDP glucuronosyltransferase 2 family, polypeptide B17 protein-coding UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 O C19-steroid-specific UDP-glucuronosyltransferase|C19-steroid-specific UDPGT|UDP glycosyltransferase 2 family, member B17|UDP-glucuronosyltransferase 2B17|UDP-glucuronyltransferase, family 2, beta-17 20141207 9606 7368 UGT8 - CGT|UGT4 MIM:601291|HGNC:HGNC:12555|Ensembl:ENSG00000174607|HPRD:03186|Vega:OTTHUMG00000132915 4 4q26 UDP glycosyltransferase 8 protein-coding UGT8 UDP glycosyltransferase 8 O 2-hydroxyacylsphingosine 1-beta-galactosyltransferase|UDP-galactose ceramide galactosyltransferase|UDP-galactose-ceramide galactosyltransferase|ceramide UDP-galactosyltransferase|cerebroside synthase|uridine diphosphate glycosyltransferase 8 20141207 9606 7371 UCK2 - TSA903|UK|UMPK MIM:609329|HGNC:HGNC:12562|HPRD:01882 1 1q23 uridine-cytidine kinase 2 protein-coding UCK2 uridine-cytidine kinase 2 O cytidine monophosphokinase 2|testis-specific protein TSA903|uridine kinase|uridine monophosphate kinase|uridine monophosphokinase 2 20141207 9606 7372 UMPS OK/SW-cl.21 OPRT MIM:613891|HGNC:HGNC:12563|HPRD:02022 3 3q13 uridine monophosphate synthetase protein-coding UMPS uridine monophosphate synthetase O OMPdecase|OPRTase|UMP synthase|orotate phosphoribosyltransferase|orotidine 5'-phosphate decarboxylase|uridine 5'-monophosphate synthase 20141207 9606 7378 UPP1 - UDRPASE|UP|UPASE|UPP MIM:191730|HGNC:HGNC:12576|Ensembl:ENSG00000183696|HPRD:08932|Vega:OTTHUMG00000129253 7 7p12.3 uridine phosphorylase 1 protein-coding UPP1 uridine phosphorylase 1 O UPase 1|urdPase 1 20141207 9606 7389 UROD RP11-69J16.2 PCT|UPD MIM:613521|HGNC:HGNC:12591|Ensembl:ENSG00000126088|HPRD:01441|Vega:OTTHUMG00000008949 1 1p34 uroporphyrinogen decarboxylase protein-coding UROD uroporphyrinogen decarboxylase O uroporphyrinogen III decarboxylase 20141219 9606 7390 UROS RP11-124H7.1 UROIIIS MIM:606938|HGNC:HGNC:12592|Ensembl:ENSG00000188690|HPRD:06087|Vega:OTTHUMG00000019236 10 10q25.2-q26.3 uroporphyrinogen III synthase protein-coding UROS uroporphyrinogen III synthase O hydroxymethylbilane hydrolyase|uroporphyrinogen-III cosynthase|uroporphyrinogen-III synthase 20141219 9606 7411 VBP1 RP13-228J13.4 PFD3|PFDN3|VBP-1 MIM:300133|HGNC:HGNC:12662|Ensembl:ENSG00000155959|HPRD:02135|Vega:OTTHUMG00000022666 X Xq28 von Hippel-Lindau binding protein 1 protein-coding VBP1 von Hippel-Lindau binding protein 1 O HIBBJ46|VHL binding protein-1|VHL-binding protein 1|prefoldin 3|prefoldin subunit 3|von Hippel-Lindau-binding protein 1 20141207 9606 7416 VDAC1 - PORIN|VDAC-1 MIM:604492|HGNC:HGNC:12669|Ensembl:ENSG00000213585|HPRD:05137|Vega:OTTHUMG00000129118 5 5q31 voltage-dependent anion channel 1 protein-coding VDAC1 voltage-dependent anion channel 1 O outer mitochondrial membrane protein porin 1|plasmalemmal porin|porin 31HL|porin 31HM|voltage-dependent anion-selective channel protein 1 20141207 9606 7453 WARS - GAMMA-2|IFI53|IFP53 MIM:191050|HGNC:HGNC:12729|Ensembl:ENSG00000140105|HPRD:01845|Vega:OTTHUMG00000171572 14 14q32.31 tryptophanyl-tRNA synthetase protein-coding WARS tryptophanyl-tRNA synthetase O hWRS|interferon-induced protein 53|trpRS|tryptophan tRNA ligase 1, cytoplasmic|tryptophan--tRNA ligase, cytoplasmic 20141207 9606 7458 EIF4H - WBSCR1|WSCR1|eIF-4H MIM:603431|HGNC:HGNC:12741|Ensembl:ENSG00000106682|HPRD:11940|Vega:OTTHUMG00000023025 7 7q11.23 eukaryotic translation initiation factor 4H protein-coding EIF4H eukaryotic translation initiation factor 4H O Williams-Beuren syndrome chromosome region 1 20141207 9606 7498 XDH - XO|XOR MIM:607633|HGNC:HGNC:12805|Ensembl:ENSG00000158125|HPRD:06363|Vega:OTTHUMG00000099385 2 2p23.1 xanthine dehydrogenase protein-coding XDH xanthine dehydrogenase O xanthine dehydrogenase/oxidase|xanthine oxidoreductase 20141207 9606 7514 XPO1 - CRM1|emb|exp1 MIM:602559|HGNC:HGNC:12825|Ensembl:ENSG00000082898|HPRD:03975|Vega:OTTHUMG00000152316 2 2p15 exportin 1 protein-coding XPO1 exportin 1 O CRM1, yeast, homolog|chromosome region maintenance 1 homolog|chromosome region maintenance 1 protein homolog|exportin 1 (CRM1 homolog, yeast)|exportin-1|exportin-1 (required for chromosome region maintenance) 20141222 9606 7529 YWHAB RP1-148E22.1 GW128|HEL-S-1|HS1|KCIP-1|YWHAA MIM:601289|HGNC:HGNC:12849|Ensembl:ENSG00000166913|HPRD:03184|Vega:OTTHUMG00000032549 20 20q13.1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta protein-coding YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta O 14-3-3 alpha|14-3-3 protein beta/alpha|brain protein 14-3-3, beta isoform|epididymis secretory protein Li 1|protein 1054|protein kinase C inhibitor protein 1|protein kinase C inhibitor protein-1|tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide|tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide 20141207 9606 7534 YWHAZ - 14-3-3-zeta|HEL-S-3|HEL4|KCIP-1|YWHAD MIM:601288|HGNC:HGNC:12855|Ensembl:ENSG00000164924|HPRD:03183|Vega:OTTHUMG00000134291 8 8q23.1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta protein-coding YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta O 14-3-3 delta|14-3-3 protein zeta/delta|14-3-3 protein/cytosolic phospholipase A2|14-3-3 zeta|epididymis luminal protein 4|epididymis secretory protein Li 3|phospholipase A2|protein kinase C inhibitor protein 1|protein kinase C inhibitor protein-1|tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide|tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide|tyrosine 3/tryptophan 5 -monooxygenase activation protein, zeta polypeptide 20141222 9606 7538 ZFP36 - G0S24|GOS24|NUP475|RNF162A|TIS11|TTP|zfp-36 MIM:190700|HGNC:HGNC:12862|Ensembl:ENSG00000128016|HPRD:01835|Vega:OTTHUMG00000182970 19 19q13.1 ZFP36 ring finger protein protein-coding ZFP36 ZFP36 ring finger protein O G0/G1 switch regulatory protein 24|growth factor-inducible nuclear protein NUP475|tristetraprolin|tristetraproline|zinc finger protein 36 homolog|zinc finger protein 36, C3H type, homolog|zinc finger protein, C3H type, 36 homolog 20141207 9606 7841 MOGS - CDG2B|CWH41|DER7|GCS1 MIM:601336|HGNC:HGNC:24862|Ensembl:ENSG00000115275|HPRD:03214|Vega:OTTHUMG00000152886 2 2p13.1 mannosyl-oligosaccharide glucosidase protein-coding MOGS mannosyl-oligosaccharide glucosidase O glucosidase I|processing A-glucosidase I 20141219 9606 7846 TUBA1A - B-ALPHA-1|LIS3|TUBA3 MIM:602529|HGNC:HGNC:20766|Ensembl:ENSG00000167552|HPRD:03959|Vega:OTTHUMG00000169511 12 12q13.12 tubulin, alpha 1a protein-coding TUBA1A tubulin, alpha 1a O hum-a-tub1|hum-a-tub2|tubulin B-alpha-1|tubulin alpha-1A chain|tubulin alpha-3 chain|tubulin, alpha, brain-specific 20141222 9606 7915 ALDH5A1 - SSADH|SSDH MIM:610045|HGNC:HGNC:408|Ensembl:ENSG00000112294|HPRD:08361|Vega:OTTHUMG00000014356 6 6p22 aldehyde dehydrogenase 5 family, member A1 protein-coding ALDH5A1 aldehyde dehydrogenase 5 family, member A1 O NAD(+)-dependent succinic semialdehyde dehydrogenase|aldehyde dehydrogenase 5 family member A1|mitochondrial succinate semialdehyde dehydrogenase|succinate-semialdehyde dehydrogenase, mitochondrial 20141219 9606 7941 PLA2G7 - LDL-PLA2|LP-PLA2|PAFAD|PAFAH MIM:601690|HGNC:HGNC:9040|Ensembl:ENSG00000146070|HPRD:03407|Vega:OTTHUMG00000014789 6 6p21.2-p12 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) protein-coding PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) O 1-alkyl-2-acetylglycerophosphocholine esterase|2-acetyl-1-alkylglycerophosphocholine esterase|LDL-PLA(2)|LDL-associated phospholipase A2|PAF 2-acylhydrolase|PAF acetylhydrolase|gVIIA-PLA2|group-VIIA phospholipase A2|lipoprotein-associated phospholipase A2|platelet-activating factor acetylhydrolase 20141207 9606 7991 TUSC3 - D8S1992|M33|MRT22|MRT7|N33|OST3A MIM:601385|HGNC:HGNC:30242|Ensembl:ENSG00000104723|HPRD:03228|Vega:OTTHUMG00000094803 8 8p22 tumor suppressor candidate 3 protein-coding TUSC3 tumor suppressor candidate 3 O Putative prostate cancer tumor suppressor|magnesium uptake/transporter TUSC3|oligosaccharyltransferase 3 homolog A 20141219 9606 8021 NUP214 RP11-544A12.7 CAIN|CAN|D9S46E|N214|p250 MIM:114350|HGNC:HGNC:8064|Ensembl:ENSG00000126883|HPRD:00258|Vega:OTTHUMG00000020816 9 9q34.1 nucleoporin 214kDa protein-coding NUP214 nucleoporin 214kDa O CAN protein, putative oncogene|nuclear pore complex protein Nup214 20141207 9606 8029 CUBN RP11-416D8.1 IFCR|MGA1|gp280 MIM:602997|HGNC:HGNC:2548|Ensembl:ENSG00000107611|HPRD:04296|Vega:OTTHUMG00000017741 10 10p12.31 cubilin (intrinsic factor-cobalamin receptor) protein-coding CUBN cubilin (intrinsic factor-cobalamin receptor) O 460 kDa receptor|cubilin|cubilin precursor variant 1|cubilin precursor variant 2|intestinal intrinsic factor receptor|intrinsic factor-vitamin B12 receptor 20141207 9606 8034 SLC25A16 RP11-524O24.4 D10S105E|GDA|GDC|HGT.1|ML7|hML7 MIM:139080|HGNC:HGNC:10986|HPRD:00740 10 10q21.3 solute carrier family 25 (mitochondrial carrier), member 16 protein-coding SLC25A16 solute carrier family 25 (mitochondrial carrier), member 16 O graves disease autoantigen|graves disease carrier protein|mitochondrial solute carrier protein homolog|solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16|solute carrier family 25 member 16 20141207 9606 8050 PDHX - DLDBP|E3BP|OPDX|PDX1|proX MIM:608769|HGNC:HGNC:21350|Ensembl:ENSG00000110435|HPRD:02002|Vega:OTTHUMG00000166491 11 11p13 pyruvate dehydrogenase complex, component X protein-coding PDHX pyruvate dehydrogenase complex, component X O dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex|lipoyl-containing pyruvate dehydrogenase complex component X|pyruvate dehydrogenase complex, E3-binding protein subunit|pyruvate dehydrogenase complex, lipoyl-containing component X|pyruvate dehydrogenase protein X component, mitochondrial 20141207 9606 8086 AAAS GL003 AAA|AAASb|ADRACALA|ADRACALIN|ALADIN MIM:605378|HGNC:HGNC:13666|Ensembl:ENSG00000094914|HPRD:05646|Vega:OTTHUMG00000169729 12 12q13 achalasia, adrenocortical insufficiency, alacrimia protein-coding AAAS achalasia, adrenocortical insufficiency, alacrimia O Allgrove, triple-A|aladin 20141207 9606 8125 ANP32A - C15orf1|HPPCn|I1PP2A|LANP|MAPM|PHAP1|PHAPI|PP32 MIM:600832|HGNC:HGNC:13233|Ensembl:ENSG00000140350|HPRD:09014|Vega:OTTHUMG00000154502 15 15q23 acidic (leucine-rich) nuclear phosphoprotein 32 family, member A protein-coding ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A O acidic leucine-rich nuclear phosphoprotein 32 family member A|acidic nuclear phosphoprotein pp32|cerebellar leucine rich acidic nuclear protein|hepatopoietin Cn|inhibitor-1 of protein phosphatase-2A|leucine-rich acidic nuclear protein|mapmodulin|potent heat-stable protein phosphatase 2A inhibitor I1PP2A|putative HLA-DR-associated protein I|putative human HLA class II associated protein I 20141207 9606 8128 ST8SIA2 UNQ3057 HsT19690|SIAT8B|ST8SIA-II|STX MIM:602546|HGNC:HGNC:10870|Ensembl:ENSG00000140557|HPRD:03969|Vega:OTTHUMG00000149843 15 15q26 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 protein-coding ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 O SIAT8-B|ST8SiaII|alpha-2,8-sialyltransferase 8B|alpha-2,8-sialyltransferase 8B 1|sialyltransferase 8 (alpha-2, 8-sialytransferase) B|sialyltransferase 8B|sialyltransferase St8Sia II|sialyltransferase X|sialytransferase St8Sia II 20141222 9606 8202 NCOA3 RP5-1049G16.3 ACTR|AIB-1|AIB1|CAGH16|CTG26|KAT13B|RAC3|SRC-3|SRC3|TNRC14|TNRC16|TRAM-1|bHLHe42|pCIP MIM:601937|HGNC:HGNC:7670|Ensembl:ENSG00000124151|HPRD:03570|Vega:OTTHUMG00000033061 20 20q12 nuclear receptor coactivator 3 protein-coding NCOA3 nuclear receptor coactivator 3 O CBP-interacting protein|amplified in breast cancer 1 protein|class E basic helix-loop-helix protein 42|receptor-associated coactivator 3|steroid receptor coactivator protein 3|thyroid hormone receptor activator molecule 1 20141207 9606 8228 PNPLA4 - DXS1283E|GS2|iPLA2eta MIM:300102|HGNC:HGNC:24887|Ensembl:ENSG00000006757|HPRD:02112|Vega:OTTHUMG00000021103 X Xp22.3 patatin-like phospholipase domain containing 4 protein-coding PNPLA4 patatin-like phospholipase domain containing 4 O IPLA2 eta|calcium independent phospholipases A2 eta|patatin-like phospholipase domain-containing protein 4 20141207 9606 8237 USP11 RP4-659F15.2 UHX1 MIM:300050|HGNC:HGNC:12609|Ensembl:ENSG00000102226|HPRD:02081|Vega:OTTHUMG00000021437 X Xp11.23 ubiquitin specific peptidase 11 protein-coding USP11 ubiquitin specific peptidase 11 O deubiquitinating enzyme 11|ubiquitin carboxyl-terminal hydrolase 11|ubiquitin carboxyl-terminal hydrolase, X-linked|ubiquitin thioesterase 11|ubiquitin thiolesterase 11|ubiquitin-specific processing protease 11|ubiquitin-specific-processing protease 11 20141207 9606 8277 TKTL1 LL0XNC01-14B7.1 TKR|TKT2 MIM:300044|HGNC:HGNC:11835|Ensembl:ENSG00000007350|HPRD:02080|Vega:OTTHUMG00000022707 X Xq28 transketolase-like 1 protein-coding TKTL1 transketolase-like 1 O TK 2|transketolase-2|transketolase-like protein 1|transketolase-related protein 20141207 9606 8309 ACOX2 - BCOX|BRCACOX|BRCOX|THCCox MIM:601641|HGNC:HGNC:120|Ensembl:ENSG00000168306|HPRD:09037|Vega:OTTHUMG00000159154 3 3p14.3 acyl-CoA oxidase 2, branched chain protein-coding ACOX2 acyl-CoA oxidase 2, branched chain O 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase|THCA-CoA oxidase|acyl-Coenzyme A oxidase 2, branched chain|peroxisomal acyl-coenzyme A oxidase 2|peroxisomal branched chain acyl-CoA oxidase|trihydroxycoprostanoyl-CoA oxidase 20141207 9606 8310 ACOX3 - - MIM:603402|HGNC:HGNC:121|Ensembl:ENSG00000087008|HPRD:04552|Vega:OTTHUMG00000090509 4 4p15.3 acyl-CoA oxidase 3, pristanoyl protein-coding ACOX3 acyl-CoA oxidase 3, pristanoyl O BRCACox|acyl-Coenzyme A oxidase 3, pristanoyl|branched-chain acyl-CoA oxidase|peroxisomal acyl-coenzyme A oxidase 3|pristanoyl-CoA oxidase 20141207 9606 8382 NME5 - NM23-H5|NM23H5|RSPH23 MIM:603575|HGNC:HGNC:7853|Ensembl:ENSG00000112981|HPRD:04655|Vega:OTTHUMG00000129207 5 5q31 NME/NM23 family member 5 protein-coding NME5 NME/NM23 family member 5 O IPIA-beta|NDK-H 5|NDP kinase homolog 5|inhibitor of p53-induced apoptosis-beta|non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)|nucleoside diphosphate kinase homolog 5|radial spoke 23 homolog|testis-specific nm23 homolog 20141207 9606 8394 PIP5K1A RP11-68I18.9 - MIM:603275|HGNC:HGNC:8994|Ensembl:ENSG00000143398|Vega:OTTHUMG00000012351 1 1q21.3 phosphatidylinositol-4-phosphate 5-kinase, type I, alpha protein-coding PIP5K1A phosphatidylinositol-4-phosphate 5-kinase, type I, alpha O 68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha|68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha|PIP5K1-alpha|PIP5KIalpha|phosphatidylinositol 4-phosphate 5-kinase type I alpha|phosphatidylinositol 4-phosphate 5-kinase type-1 alpha|phosphatidylinositol-4-phosphate 5-kinase type-1 alpha|ptdIns(4)P-5-kinase 1 alpha 20141207 9606 8395 PIP5K1B - MSS4|STM7 MIM:602745|HGNC:HGNC:8995|Ensembl:ENSG00000107242|HPRD:04121|Vega:OTTHUMG00000019976 9 9q13 phosphatidylinositol-4-phosphate 5-kinase, type I, beta protein-coding PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta O PIP5K1-beta|PIP5KIbeta|phosphatidylinositol 4-phosphate 5-kinase type I beta|phosphatidylinositol 4-phosphate 5-kinase type-1 beta|phosphatidylinositol-4-phosphate 5-kinase type-1 beta|protein STM-7|ptdIns(4)P-5-kinase 1 beta|type I phosphatidylinositol 4-phosphate 5-kinase beta|type I phosphatidylinositol-4-phosphate 5-kinase beta 20141207 9606 8396 PIP4K2B - PI5P4KB|PIP5K2B|PIP5KIIB|PIP5KIIbeta MIM:603261|HGNC:HGNC:8998|Ensembl:ENSG00000276293|HPRD:04463|Vega:OTTHUMG00000188504 17 17q12 phosphatidylinositol-5-phosphate 4-kinase, type II, beta protein-coding PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta O 1-phosphatidylinositol 5-phosphate 4-kinase 2-beta|1-phosphatidylinositol-4-phosphate kinase|1-phosphatidylinositol-5-phosphate 4-kinase 2-beta|PI(5)P 4-kinase type II beta|PIP4KII-beta|PTDINS(4)P-5-kinase|diphosphoinositide kinase 2-beta|phosphatidylinositol 5-phosphate 4-kinase type II beta|phosphatidylinositol 5-phosphate 4-kinase type-2 beta|phosphatidylinositol-4-phosphate 5-kinase, type II, beta|phosphatidylinositol-5-phosphate 4-kinase type-2 beta|ptdIns(5)P-4-kinase isoform 2-beta 20141207 9606 8398 PLA2G6 CTA-228A9.2 CaI-PLA2|GVI|INAD1|IPLA2-VIA|NBIA2|NBIA2A|NBIA2B|PARK14|PLA2|PNPLA9|iPLA2|iPLA2beta MIM:603604|HGNC:HGNC:9039|Ensembl:ENSG00000184381|HPRD:04675|Vega:OTTHUMG00000151246 22 22q13.1 phospholipase A2, group VI (cytosolic, calcium-independent) protein-coding PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) O 85 kDa calcium-independent phospholipase A2|85/88 kDa calcium-independent phospholipase A2|GVI PLA2|calcium-independent phospholipase A2|cytosolic, calcium-independent phospholipase A2|group VI phospholipase A2|iPLA2-beta|intracellular membrane-associated calcium-independent phospholipase A2 beta|neurodegeneration with brain iron accumulation 2|patatin-like phospholipase domain containing 9|patatin-like phospholipase domain-containing protein 9 20141219 9606 8399 PLA2G10 - GXPLA2|GXSPLA2|SPLA2 MIM:603603|HGNC:HGNC:9029|Ensembl:ENSG00000069764|HPRD:04674|Vega:OTTHUMG00000048069 16 16p13.1-p12 phospholipase A2, group X protein-coding PLA2G10 phospholipase A2, group X O GX sPLA2|group 10 secretory phospholipase A2|group X secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 10|sPLA2-X 20141207 9606 8402 SLC25A11 - OGC|SLC20A4 MIM:604165|HGNC:HGNC:10981|Ensembl:ENSG00000108528|HPRD:05003|Vega:OTTHUMG00000099395 17 17p13.3 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 protein-coding SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 O OGCP|mitochondrial 2-oxoglutarate/malate carrier protein|solute carrier family 20 (oxoglutarate carrier), member 4|solute carrier family 25 member 11 20141207 9606 8424 BBOX1 - BBH|BBOX|G-BBH|gamma-BBH MIM:603312|HGNC:HGNC:964|Ensembl:ENSG00000129151|HPRD:04498|Vega:OTTHUMG00000166121 11 11p14.2 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 protein-coding BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 O gamma-butyrobetaine dioxygenase|gamma-butyrobetaine hydroxylase|gamma-butyrobetaine,2-oxoglutarate dioxygenase 1 20141207 9606 8443 GNPAT RP5-876B10.1 DAP-AT|DAPAT|DHAPAT MIM:602744|HGNC:HGNC:4416|Ensembl:ENSG00000116906|HPRD:04120|Vega:OTTHUMG00000038024 1 1q42 glyceronephosphate O-acyltransferase protein-coding GNPAT glyceronephosphate O-acyltransferase O DHAP-AT|acyl-CoA:dihydroxyacetonephosphateacyltransferase|dihydroxyacetone phosphate acyltransferase|glycerone-phosphate O-acyltransferase 20141207 9606 8463 TEAD2 - ETF|TEAD-2|TEF-4|TEF4 MIM:601729|HGNC:HGNC:11715|Ensembl:ENSG00000074219|Vega:OTTHUMG00000183174 19 19q13.3 TEA domain family member 2 protein-coding TEAD2 TEA domain family member 2 O transcriptional enhancer factor TEF-4 20141207 9606 8480 RAE1 RP4-800J21.2 MIG14|MRNP41|Mnrp41|dJ481F12.3|dJ800J21.1 MIM:603343|HGNC:HGNC:9828|HPRD:11939 20 20q13.31 ribonucleic acid export 1 protein-coding RAE1 ribonucleic acid export 1 O RAE1 RNA export 1 homolog|homolog of yeast Rae1 (Bharathi) mRNA-associated protein of 41 kDa (Kraemer)|mRNA export factor|mRNA export protein|mRNA-associated protein MRNP 41|mRNA-binding protein, 41-kD|migration-inducing gene 14|rae1 protein homolog 20141207 9606 8487 GEMIN2 - SIP1|SIP1-delta MIM:602595|HGNC:HGNC:10884|Ensembl:ENSG00000092208|HPRD:03999|Vega:OTTHUMG00000028816 14 14q13 gem (nuclear organelle) associated protein 2 protein-coding GEMIN2 gem (nuclear organelle) associated protein 2 O SMN interacting protein 1-delta|component of gems 2|gem-associated protein 2|gemin-2|survival of motor neuron protein interacting protein 1 20141207 9606 8503 PIK3R3 RP4-533D7.2 p55|p55-GAMMA MIM:606076|HGNC:HGNC:8981|Ensembl:ENSG00000117461|HPRD:05831|Vega:OTTHUMG00000008096 1 1p34.1 phosphoinositide-3-kinase, regulatory subunit 3 (gamma) protein-coding PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma) O 100% homology to SWISS-PROT Q92569|PI3-kinase regulatory subunit gamma|PI3-kinase subunit p55-gamma|PI3K regulatory subunit gamma|p55PIK|phosphatidylinositol 3-kinase 55 kDa regulatory subunit gamma|phosphatidylinositol 3-kinase regulatory subunit gamma|phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 3 (p55, gamma)|phosphoinositide-3-kinase, regulatory subunit 3 (p55, gamma)|phosphoinositide-3-kinase, regulatory subunit, polypeptide 3 (p55, gamma)|ptdIns-3-kinase regulatory subunit gamma|ptdIns-3-kinase regulatory subunit p55-gamma 20141207 9606 8509 NDST2 - HSST2|NST2 MIM:603268|HGNC:HGNC:7681|Ensembl:ENSG00000166507|HPRD:04465|Vega:OTTHUMG00000018489 10 10q22 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 protein-coding NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 O N-HSST 2|N-heparan sulfate sulfotransferase 2|NDST-2|bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2|glucosaminyl N-deacetylase/N-sulfotransferase 2 20141207 9606 8513 LIPF RP11-186O14.1 GL|HGL|HLAL MIM:601980|HGNC:HGNC:6622|Ensembl:ENSG00000182333|HPRD:09063|Vega:OTTHUMG00000018695 10 10q23.31 lipase, gastric protein-coding LIPF lipase, gastric O gastric lipase|gastric triacylglycerol lipase 20141207 9606 8525 DGKZ - DAGK5|DAGK6|DGK-ZETA|hDGKzeta MIM:601441|HGNC:HGNC:2857|Ensembl:ENSG00000149091|HPRD:03260|Vega:OTTHUMG00000166437 11 11p11.2 diacylglycerol kinase, zeta protein-coding DGKZ diacylglycerol kinase, zeta O DAG kinase zeta|diacylglycerol kinase zeta|diacylglycerol kinase, zeta 104kDa|diglyceride kinase zeta 20141207 9606 8526 DGKE - DAGK5|DAGK6|DGK|NPHS7 MIM:601440|HGNC:HGNC:2852|Ensembl:ENSG00000153933|HPRD:03259|Vega:OTTHUMG00000178121 17 17q22 diacylglycerol kinase, epsilon 64kDa protein-coding DGKE diacylglycerol kinase, epsilon 64kDa O DAG kinase epsilon|DGK-epsilon|diacylglycerol kinase epsilon|diglyceride kinase epsilon 20141219 9606 8527 DGKD - DGKdelta|dgkd-2 MIM:601826|HGNC:HGNC:2851|Ensembl:ENSG00000077044|HPRD:03492|Vega:OTTHUMG00000133290 2 2q37.1 diacylglycerol kinase, delta 130kDa protein-coding DGKD diacylglycerol kinase, delta 130kDa O DAG kinase delta|DGK-delta|diacylglycerol kinase delta|diglyceride kinase delta 20141207 9606 8528 DDO RP1-261K5.2 DASOX|DDO-1|DDO-2 MIM:124450|HGNC:HGNC:2727|Ensembl:ENSG00000203797|HPRD:00498|Vega:OTTHUMG00000015360 6 6q21 D-aspartate oxidase protein-coding DDO D-aspartate oxidase O D-aspartate oxidase, DDO|aspartic oxidase 20141207 9606 8534 CHST1 - C6ST|GST-1|KS6ST|KSGal6ST|KSST MIM:603797|HGNC:HGNC:1969|HPRD:07051 11 11p11.2 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 protein-coding CHST1 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 O carbohydrate (chondroitin 6/keratan) sulfotransferase 1|carbohydrate sulfotransferase 1|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 1 20141207 9606 8540 AGPS AAG5 ADAP-S|ADAS|ADHAPS|ADPS|ALDHPSY MIM:603051|HGNC:HGNC:327|Ensembl:ENSG00000018510|HPRD:04337|Vega:OTTHUMG00000132530 2 2q31.2 alkylglycerone phosphate synthase protein-coding AGPS alkylglycerone phosphate synthase O aging-associated gene 5 protein|aging-associated protein 5|alkyl-DHAP synthase|alkyldihydroxyacetonephosphate synthase, peroxisomal|alkylglycerone-phosphate synthase 20141207 9606 8560 DEGS1 MIG15 DEGS|DEGS-1|DES1|Des-1|FADS7|MLD MIM:615843|HGNC:HGNC:13709|Ensembl:ENSG00000143753|HPRD:13133|Vega:OTTHUMG00000037496 1 1q42.11 delta(4)-desaturase, sphingolipid 1 protein-coding DEGS1 delta(4)-desaturase, sphingolipid 1 O cell migration-inducing gene 15 protein|degenerative spermatocyte homolog 1, lipid desaturase|degenerative spermatocyte homolog, lipid desaturase|dihydroceramide desaturase 1|membrane fatty acid (lipid) desaturase|membrane lipid desaturase|migration-inducing gene 15 protein|sphingolipid delta 4 desaturase|sphingolipid delta(4)-desaturase 1|sphingolipid delta(4)-desaturase DES1 20141207 9606 8564 KMO RP1-317G22.1 dJ317G22.1 MIM:603538|HGNC:HGNC:6381|Ensembl:ENSG00000117009|HPRD:04642|Vega:OTTHUMG00000039635 1 1q42-q44 kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) protein-coding KMO kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) O kynurenine 3-hydroxylase|kynurenine 3-monooxygenase 20141207 9606 8566 PDXK PRED79 C21orf124|C21orf97|HEL-S-1a|PKH|PNK MIM:179020|HGNC:HGNC:8819|Ensembl:ENSG00000160209|HPRD:01526|Vega:OTTHUMG00000086870 21 21q22.3 pyridoxal (pyridoxine, vitamin B6) kinase protein-coding PDXK pyridoxal (pyridoxine, vitamin B6) kinase O epididymis secretory sperm binding protein Li 1a|pyridoxal kinase|pyridoxamine kinase|pyridoxine kinase|vitamin B6 kinase 20141207 9606 8570 KHSRP - FBP2|FUBP2|KSRP MIM:603445|HGNC:HGNC:6316|Ensembl:ENSG00000088247|HPRD:10350|Vega:OTTHUMG00000180850 19 19p13.3 KH-type splicing regulatory protein protein-coding KHSRP KH-type splicing regulatory protein O FUSE binding protein 2|FUSE-binding protein 2|KH type-splicing regulatory protein|far upstream element-binding protein 2|p75 20141207 9606 8604 SLC25A12 - AGC1|ARALAR MIM:603667|HGNC:HGNC:10982|Ensembl:ENSG00000115840|HPRD:04719|Vega:OTTHUMG00000134290 2 2q24 solute carrier family 25 (aspartate/glutamate carrier), member 12 protein-coding SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 O araceli hiperlarga|calcium binding mitochondrial carrier superfamily member Aralar1|calcium-binding mitochondrial carrier protein Aralar1|mitochondrial aspartate glutamate carrier 1|solute carrier family 25 (mitochondrial carrier, Aralar), member 12 20141207 9606 8605 PLA2G4C - CPLA2-gamma MIM:603602|HGNC:HGNC:9037|Ensembl:ENSG00000105499|HPRD:04673|Vega:OTTHUMG00000183185 19 19q13.3 phospholipase A2, group IVC (cytosolic, calcium-independent) protein-coding PLA2G4C phospholipase A2, group IVC (cytosolic, calcium-independent) O cytosolic phospholipase A2 gamma|phospholipase A2 group IVC 20141207 9606 8608 RDH16 - RODH-4|SDR9C8 HGNC:HGNC:29674|HPRD:10208 12 12q13.3 retinol dehydrogenase 16 (all-trans) protein-coding RDH16 retinol dehydrogenase 16 (all-trans) O microsomal NAD(+)-dependent retinol dehydrogenase 4|microsomal NAD+-dependent retinol dehydrogenase 4|retinol dehydrogenase 16|retinol dehydrogenase 16 (all-trans and 13-cis)|short chain dehydrogenase/reductase family 9C, member 8|sterol/retinol dehydrogenase 20141207 9606 8611 PPAP2A - LLP1a|LPP1|PAP-2a|PAP2 MIM:607124|HGNC:HGNC:9228|Ensembl:ENSG00000067113|HPRD:06178|Vega:OTTHUMG00000162240 5 5q11 phosphatidic acid phosphatase type 2A protein-coding PPAP2A phosphatidic acid phosphatase type 2A O lipid phosphate phosphohydrolase 1|lipid phosphate phosphohydrolase 1a|phosphatidate phosphohydrolase type 2a|phosphatidic acid phosphatase 2a|phosphatidic acid phosphohydrolase type 2a|type-2 phosphatidic acid phosphatase alpha 20141207 9606 8612 PPAP2C - LPP2|PAP-2c|PAP2-g MIM:607126|HGNC:HGNC:9230|Ensembl:ENSG00000141934|HPRD:06180|Vega:OTTHUMG00000180530 19 19p13 phosphatidic acid phosphatase type 2C protein-coding PPAP2C phosphatidic acid phosphatase type 2C O PAP2-gamma|PAP2c|lipid phosphate phosphohydrolase 2|phosphatidate phosphohydrolase type 2c|phosphatidic acid phosphatase 2c|phosphatidic acid phosphohydrolase type 2c|type-2 phosphatidic acid phosphatase-gamma 20141207 9606 8613 PPAP2B - Dri42|LPP3|PAP2B|VCIP MIM:607125|HGNC:HGNC:9229|Ensembl:ENSG00000162407|HPRD:06179|Vega:OTTHUMG00000008160 1 1p32.2 phosphatidic acid phosphatase type 2B protein-coding PPAP2B phosphatidic acid phosphatase type 2B O PAP2 beta|lipid phosphate phosphohydrolase 3|phosphatidate phosphohydrolase type 2b|type-2 phosphatidic acid phosphatase-beta|vascular endothelial growth factor and type I collagen inducible 20141207 9606 8622 PDE8B PIG22 ADSD|PPNAD3 MIM:603390|HGNC:HGNC:8794|Ensembl:ENSG00000113231|HPRD:04546|Vega:OTTHUMG00000102170 5 5q13.3 phosphodiesterase 8B protein-coding PDE8B phosphodiesterase 8B O 3',5' cyclic nucleotide phosphodiesterase 8B|cell proliferation-inducing gene 22 protein|high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B|hsPDE8B 20141207 9606 8639 AOC3 - HPAO|SSAO|VAP-1|VAP1 MIM:603735|HGNC:HGNC:550|Ensembl:ENSG00000131471|HPRD:04770|Vega:OTTHUMG00000180656 17 17q21 amine oxidase, copper containing 3 protein-coding AOC3 amine oxidase, copper containing 3 O amine oxidase, copper containing 3 (vascular adhesion protein 1)|copper amine oxidase|membrane primary amine oxidase|placenta copper monamine oxidase|semicarbazide-sensitive amine oxidase 20141207 9606 8644 AKR1C3 - DD3|DDX|HA1753|HAKRB|HAKRe|HSD17B5|PGFS|hluPGFS MIM:603966|HGNC:HGNC:386|Ensembl:ENSG00000196139|HPRD:04911 10 10p15-p14 aldo-keto reductase family 1, member C3 protein-coding AKR1C3 aldo-keto reductase family 1, member C3 O 3-alpha hydroxysteroid dehydrogenase, type II|3-alpha-HSD type II, brain|aldo-keto reductase family 1 member C3|aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)|chlordecone reductase homolog HAKRb|dihydrodiol dehydrogenase 3|dihydrodiol dehydrogenase X|indanol dehydrogenase|prostaglandin F synthase|testosterone 17-beta-dehydrogenase 5|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase|type IIb 3-alpha hydroxysteroid dehydrogenase 20141207 9606 8647 ABCB11 - ABC16|BRIC2|BSEP|PFIC-2|PFIC2|PGY4|SPGP MIM:603201|HGNC:HGNC:42|Ensembl:ENSG00000073734|HPRD:04436|Vega:OTTHUMG00000154039 2 2q24 ATP-binding cassette, sub-family B (MDR/TAP), member 11 protein-coding ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 O ABC member 16, MDR/TAP subfamily|ATP-binding cassette sub-family B member 11|bile salt export pump|progressive familial intrahepatic cholestasis 2|sister p-glycoprotein 20141207 9606 8648 NCOA1 - F-SRC-1|KAT13A|RIP160|SRC1|bHLHe42|bHLHe74 MIM:602691|HGNC:HGNC:7668|Ensembl:ENSG00000084676|HPRD:04070|Vega:OTTHUMG00000125523 2 2p23 nuclear receptor coactivator 1 protein-coding NCOA1 nuclear receptor coactivator 1 O Hin-2 protein|PAX3/NCOA1 fusion protein|class E basic helix-loop-helix protein 74|renal carcinoma antigen NY-REN-52|steroid receptor coactivator-1 20141207 9606 8654 PDE5A - CGB-PDE|CN5A|PDE5 MIM:603310|HGNC:HGNC:8784|Ensembl:ENSG00000138735|HPRD:04497|Vega:OTTHUMG00000132971 4 4q27 phosphodiesterase 5A, cGMP-specific protein-coding PDE5A phosphodiesterase 5A, cGMP-specific O cGMP-binding cGMP-specific 3',5'-cyclic nucleotide phosphodiesterase|cGMP-specific 3',5'-cyclic phosphodiesterase|cGMP-specific phosphodiesterase PDE5A2|cGMP-specific phosphodiesterase type 5A|phosphodiesterase isozyme 5 20141207 9606 8659 ALDH4A1 RP11-128M10.1 ALDH4|P5CD|P5CDh MIM:606811|HGNC:HGNC:406|Ensembl:ENSG00000159423|HPRD:06009|Vega:OTTHUMG00000002443 1 1p36 aldehyde dehydrogenase 4 family, member A1 protein-coding ALDH4A1 aldehyde dehydrogenase 4 family, member A1 O L-glutamate gamma-semialdehyde dehydrogenase|P5C dehydrogenase|aldehyde dehydrogenase family 4 member A1|delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial|mitochondrial delta-1-pyrroline 5-carboxylate dehydrogenase 20141207 9606 8661 EIF3A - EIF3|EIF3S10|P167|TIF32|eIF3-p170|eIF3-theta|p180|p185 MIM:602039|HGNC:HGNC:3271|Ensembl:ENSG00000107581|HPRD:03618 10 10q26 eukaryotic translation initiation factor 3, subunit A protein-coding EIF3A eukaryotic translation initiation factor 3, subunit A O EIF3, p180 subunit|centrosomin homolog|cytoplasmic protein p167|eIF-3-theta|eIF3 p167|eIF3 p180|eIF3 p185|eukaryotic translation initiation factor 3 subunit 10|eukaryotic translation initiation factor 3 subunit A|eukaryotic translation initiation factor 3, subunit 10 (theta, 150/170kD)|eukaryotic translation initiation factor 3, subunit 10 (theta, 170kD)|eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa|eukaryotic translation initiation factor 3, subunit 10, 170kD 20141207 9606 8662 EIF3B - EIF3-ETA|EIF3-P110|EIF3-P116|EIF3S9|PRT1 MIM:603917|HGNC:HGNC:3280|Ensembl:ENSG00000106263|HPRD:06795|Vega:OTTHUMG00000022839 7 7p22.3 eukaryotic translation initiation factor 3, subunit B protein-coding EIF3B eukaryotic translation initiation factor 3, subunit B O eIF-3-eta|eIF3 p110|eIF3 p116|eukaryotic translation initiation factor 3 subunit 9|eukaryotic translation initiation factor 3 subunit B|eukaryotic translation initiation factor 3, subunit 9 (eta, 116kD)|eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa|hPrt1|prt1 homolog 20141207 9606 8663 EIF3C - EIF3CL|EIF3S8|eIF3-p110 MIM:603916|HGNC:HGNC:3279|Ensembl:ENSG00000184110|HPRD:04889|Vega:OTTHUMG00000099443 16 16p11.2 eukaryotic translation initiation factor 3, subunit C protein-coding EIF3C eukaryotic translation initiation factor 3, subunit C O cell migration-inducing protein 17|eIF3 p110|eukaryotic translation initiation factor 3 subunit 8|eukaryotic translation initiation factor 3 subunit C|eukaryotic translation initiation factor 3, subunit 8 (110kD)|eukaryotic translation initiation factor 3, subunit 8, 110kDa 20141207 9606 8664 EIF3D RP5-1119A7.12-003 EIF3S7|eIF3-p66|eIF3-zeta MIM:603915|HGNC:HGNC:3278|Ensembl:ENSG00000100353|HPRD:04888|Vega:OTTHUMG00000150599 22 22q13.1 eukaryotic translation initiation factor 3, subunit D protein-coding EIF3D eukaryotic translation initiation factor 3, subunit D O eIF3 p66|eukaryotic translation initiation factor 3 subunit D|eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa|translation initiation factor eIF3 p66 subunit 20141207 9606 8665 EIF3F - EIF3S5|eIF3-p47 MIM:603914|HGNC:HGNC:3275|Ensembl:ENSG00000175390|HPRD:04887 11 11p15.4 eukaryotic translation initiation factor 3, subunit F protein-coding EIF3F eukaryotic translation initiation factor 3, subunit F O deubiquitinating enzyme eIF3f|eIF-3-epsilon|eIF3-epsilon|eukaryotic translation initiation factor 3 subunit F|eukaryotic translation initiation factor 3, subunit 5 (epsilon, 47kD)|eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa 20141222 9606 8666 EIF3G - EIF3-P42|EIF3S4|eIF3-delta|eIF3-p44 MIM:603913|HGNC:HGNC:3274|Ensembl:ENSG00000130811|HPRD:04886|Vega:OTTHUMG00000180396 19 19p13.2 eukaryotic translation initiation factor 3, subunit G protein-coding EIF3G eukaryotic translation initiation factor 3, subunit G O eIF-3 RNA-binding subunit|eIF-3-delta|eIF3 p42|eIF3 p44|eukaryotic translation initiation factor 3 RNA-binding subunit|eukaryotic translation initiation factor 3 subunit 4|eukaryotic translation initiation factor 3 subunit G|eukaryotic translation initiation factor 3 subunit p42|eukaryotic translation initiation factor 3, subunit 4 (delta, 44kD)|eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa 20141207 9606 8667 EIF3H - EIF3S3|eIF3-gamma|eIF3-p40 MIM:603912|HGNC:HGNC:3273|Ensembl:ENSG00000147677|HPRD:04885 8 8q24.11 eukaryotic translation initiation factor 3, subunit H protein-coding EIF3H eukaryotic translation initiation factor 3, subunit H O eIF-3-gamma|eIF3 p40 subunit|eukaryotic translation initiation factor 3 subunit 3|eukaryotic translation initiation factor 3 subunit H|eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD)|eukaryotic translation initiation factor 3, subunit 3 (gamma, 40kD)|eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa 20141207 9606 8668 EIF3I RP4-675E8.1 EIF3S2|PRO2242|TRIP-1|TRIP1|eIF3-beta|eIF3-p36 MIM:603911|HGNC:HGNC:3272|Ensembl:ENSG00000084623|HPRD:04884|Vega:OTTHUMG00000007364 1 1p34.1 eukaryotic translation initiation factor 3, subunit I protein-coding EIF3I eukaryotic translation initiation factor 3, subunit I O TGF-beta receptor-interacting protein 1|TGFbeta receptor-interacting protein 1|eIF-3-beta|eIF3 p36|eukaryotic translation initiation factor 3 subunit 2|eukaryotic translation initiation factor 3 subunit I|eukaryotic translation initiation factor 3, subunit 2 (beta, 36kD)|eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa|predicted protein of HQ2242 20141207 9606 8669 EIF3J PRO0391 EIF3S1|eIF3-alpha|eIF3-p35 MIM:603910|HGNC:HGNC:3270|Ensembl:ENSG00000104131|HPRD:04883|Vega:OTTHUMG00000131158 15 15q21.1 eukaryotic translation initiation factor 3, subunit J protein-coding EIF3J eukaryotic translation initiation factor 3, subunit J O eukaryotic translation initiation factor 3 subunit J|eukaryotic translation initiation factor 3, subunit 1 (alpha, 35kD) 20141207 9606 8681 JMJD7-PLA2G4B - HsT16992|cPLA2-beta HGNC:HGNC:34449|Ensembl:ENSG00000168970|HPRD:07306|Vega:OTTHUMG00000044442 15 15q11.2-q21.3 JMJD7-PLA2G4B readthrough protein-coding JMJD7-PLA2G4B JMJD7-PLA2G4B readthrough O JMJD7-PLA2G4B protein|jumonji domain containing 7-phospholipase A2, group IVB (cytosolic) read-through 20141207 9606 8692 HYAL2 - LUCA2 MIM:603551|HGNC:HGNC:5321|Ensembl:ENSG00000068001|HPRD:04649|Vega:OTTHUMG00000156876 3 3p21.3 hyaluronoglucosaminidase 2 protein-coding HYAL2 hyaluronoglucosaminidase 2 O PH-20 homolog|PH20 homolog|hyal-2|hyaluronidase 2|hyaluronidase-2|hyaluronoglucosaminidase-2|lung carcinoma protein 2|lysosomal hyaluronidase 20141207 9606 8694 DGAT1 hCG_24006 ARAT|ARGP1|DGAT|DIAR7 MIM:604900|HGNC:HGNC:2843|Ensembl:ENSG00000185000|HPRD:05360|Vega:OTTHUMG00000174606 8 8q24.3 diacylglycerol O-acyltransferase 1 protein-coding DGAT1 diacylglycerol O-acyltransferase 1 O ACAT related gene product 1|acyl coenzyme A:cholesterol acyltransferase related gene 1|acyl-CoA retinol O-fatty-acyltransferase|acyl-CoA:diacylglycerol acyltransferase|diglyceride acyltransferase 20141212 9606 8702 B4GALT4 UNQ552/PRO1109 B4Gal-T4|beta4Gal-T4 MIM:604015|HGNC:HGNC:927|Ensembl:ENSG00000121578|HPRD:04930|Vega:OTTHUMG00000159358 3 3q13.3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 protein-coding B4GALT4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 O UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4|UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 4|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4|beta-1,4-GalTase 4|beta-1,4-galactosyltransferase 4|beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 4 20141207 9606 8703 B4GALT3 - beta4Gal-T3 MIM:604014|HGNC:HGNC:926|Ensembl:ENSG00000158850|HPRD:04929|Vega:OTTHUMG00000034348 1 1q21-q23 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 protein-coding B4GALT3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 O UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3|b4Gal-T3|beta-1,4-GalTase 3|beta-1,4-galactosyltransferase 3|beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 3 20141207 9606 8704 B4GALT2 - B4Gal-T2|B4Gal-T3|beta4Gal-T2 MIM:604013|HGNC:HGNC:925|Ensembl:ENSG00000117411|HPRD:04928|Vega:OTTHUMG00000008296 1 1p34-p33 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 protein-coding B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 O UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2|UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 2|UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 2|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 2|beta-1,4-GalTase 2|beta-1,4-galactosyltransferase 2|beta-4-GalT2|beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 2 20141207 9606 8714 ABCC3 - ABC31|EST90757|MLP2|MOAT-D|MRP3|cMOAT2 MIM:604323|HGNC:HGNC:54|Ensembl:ENSG00000108846|HPRD:06826|Vega:OTTHUMG00000162245 17 17q22 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 protein-coding ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 O ATP-binding cassette sub-family C member 3|canalicular multispecific organic anion transporter 2|canicular multispecific organic anion transporter|multi-specific organic anion transporter D|multidrug resistance associated protein|multidrug resistance-associated protein 3 20141207 9606 8733 GPAA1 - GAA1|hGAA1 MIM:603048|HGNC:HGNC:4446|Ensembl:ENSG00000197858|HPRD:04334|Vega:OTTHUMG00000165438 8 8q24.3 glycosylphosphatidylinositol anchor attachment 1 protein-coding GPAA1 glycosylphosphatidylinositol anchor attachment 1 O GAA1 protein homolog|GPAA1P anchor attachment protein 1 homolog|GPI anchor attachment protein 1|GPI transamidase subunit|anchor attachment protein 1 (Gaa1p, yeast) homolog|glycophosphatidylinositol anchor attachment 1|glycosylphosphatidylinositol anchor attachment 1 protein|glycosylphosphatidylinositol anchor attachment protein 1 homolog 20141207 9606 8741 TNFSF13 UNQ383/PRO715 APRIL|CD256|TALL-2|TALL2|TRDL-1|ZTNF2 MIM:604472|HGNC:HGNC:11928|Ensembl:ENSG00000161955|Vega:OTTHUMG00000108145 17 17p13.1 tumor necrosis factor (ligand) superfamily, member 13 protein-coding TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 O TNF- and APOL-related leukocyte expressed ligand 2|a proliferation-inducing ligand|tumor necrosis factor ligand superfamily member 13|tumor necrosis factor-like protein ZTNF2|tumor necrosis factor-related death ligand-1 20141207 9606 8760 CDS2 RP4-680N4.2 - MIM:603549|HGNC:HGNC:1801|Ensembl:ENSG00000101290|HPRD:09150|Vega:OTTHUMG00000031801 20 20p13 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 protein-coding CDS2 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 O CDP-DAG synthase 2|CDP-DG synthase 2|CDP-DG synthetase 2|CDP-diacylglycerol synthase 2|CDP-diglyceride diphosphorylase 2|CDP-diglyceride pyrophosphorylase 2|CDP-diglyceride synthase 2|CDP-diglyceride synthetase 2|CDS 2|CTP:phosphatidate cytidylyltransferase 2|phosphatidate cytidylyltransferase 2 20141207 9606 8776 MTMR1 - - MIM:300171|HGNC:HGNC:7449|Ensembl:ENSG00000063601|HPRD:02163|Vega:OTTHUMG00000024159 X Xq28 myotubularin related protein 1 protein-coding MTMR1 myotubularin related protein 1 O myotubularin-related protein 1|phosphatidylinositol-3-phosphate phosphatase 20141207 9606 8789 FBP2 - - MIM:603027|HGNC:HGNC:3607|Ensembl:ENSG00000130957|HPRD:04322|Vega:OTTHUMG00000020269 9 9q22.3 fructose-1,6-bisphosphatase 2 protein-coding FBP2 fructose-1,6-bisphosphatase 2 O D-fructose-1,6-bisphosphate 1-phosphohydrolase 2|FBPase 2|fructose-1,6-bisphosphatase isozyme 2|hexosediphosphatase|muscle FBPase|muscle fructose-bisphosphatase 20141207 9606 8790 FPGT - GFPP MIM:603609|HGNC:HGNC:3825|Ensembl:ENSG00000254685|HPRD:06790|Vega:OTTHUMG00000009571 1 1p31.1 fucose-1-phosphate guanylyltransferase protein-coding FPGT fucose-1-phosphate guanylyltransferase O GDP-L-fucose diphosphorylase|GDP-beta-L-fucose pyrophosphorylase|fucose-1-phosphate guanyltransferase 20141207 9606 8800 PEX11A - PEX11-ALPHA|PMP28|hsPEX11p MIM:603866|HGNC:HGNC:8852|Ensembl:ENSG00000166821|HPRD:04843|Vega:OTTHUMG00000149809 15 15q26.1 peroxisomal biogenesis factor 11 alpha protein-coding PEX11A peroxisomal biogenesis factor 11 alpha O 28 kDa peroxisomal integral membrane protein|peroxin-11A|peroxisomal biogenesis factor 11A|peroxisomal membrane protein 11A|protein PEX11 homolog alpha 20141207 9606 8801 SUCLG2 - GBETA MIM:603922|HGNC:HGNC:11450|Ensembl:ENSG00000172340|HPRD:06799|Vega:OTTHUMG00000158740 3 3p14.1 succinate-CoA ligase, GDP-forming, beta subunit protein-coding SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit O GTP-specific succinyl-CoA synthetase beta subunit|GTP-specific succinyl-CoA synthetase subunit beta|SCS-betaG|succinyl-CoA ligase [GDP-forming] subunit beta, mitochondrial|succinyl-CoA ligase, GDP-forming, beta chain, mitochondrial|succinyl-CoA synthetase beta-G chain|succinyl-CoA synthetase, beta-G chain 20141211 9606 8802 SUCLG1 - GALPHA|MTDPS9|SUCLA1 MIM:611224|HGNC:HGNC:11449|Ensembl:ENSG00000163541|HPRD:18128|Vega:OTTHUMG00000130023 2 2p11.2 succinate-CoA ligase, alpha subunit protein-coding SUCLG1 succinate-CoA ligase, alpha subunit O SCS-alpha|succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial|succinyl-CoA ligase [GDP-forming] subunit alpha, mitochondrial|succinyl-CoA synthetase subunit alpha 20141207 9606 8803 SUCLA2 RP11-528D24.2 A-BETA|MTDPS5|SCS-betaA MIM:603921|HGNC:HGNC:11448|Ensembl:ENSG00000136143|HPRD:06798|Vega:OTTHUMG00000016889 13 13q12.2-q13.3 succinate-CoA ligase, ADP-forming, beta subunit protein-coding SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit O ATP-specific succinyl-CoA synthetase subunit beta|ATP-specific succinyl-CoA synthetase, beta subunit|mitochondrial succinyl-CoA ligase [ADP-forming] subunit beta|renal carcinoma antigen NY-REN-39|succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial|succinyl-CoA synthetase beta-A chain 20141219 9606 8813 DPM1 RP5-914P20.2 CDGIE|MPDS MIM:603503|HGNC:HGNC:3005|Ensembl:ENSG00000000419|HPRD:04613|Vega:OTTHUMG00000032742 20 20q13.13 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit protein-coding DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit O DPM synthase complex, catalytic subunit|DPM synthase subunit 1|MPD synthase subunit 1|dolichol monophosphate mannose synthase|dolichol-phosphate mannose synthase subunit 1|dolichol-phosphate mannosyltransferase subunit 1|dolichyl-phosphate beta-D-mannosyltransferase subunit 1|mannose-P-dolichol synthase subunit 1 20141219 9606 8818 DPM2 RP11-203J24.2 CDG1U MIM:603564|HGNC:HGNC:3006|Ensembl:ENSG00000136908|HPRD:16028|Vega:OTTHUMG00000020725 9 9q34.13 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit protein-coding DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit O DPM synthase complex subunit|DPM synthase subunit 2|dolichol phosphate-mannose biosynthesis regulatory protein|dolichol-phosphate mannose synthase subunit 2 20141219 9606 8821 INPP4B - - MIM:607494|HGNC:HGNC:6075|Ensembl:ENSG00000109452|HPRD:06322|Vega:OTTHUMG00000161341 4 4q31.21 inositol polyphosphate-4-phosphatase, type II, 105kDa protein-coding INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa O inositol polyphosphate 4-phosphatase II; 4-phosphatase II|inositol polyphosphate 4-phosphatase type II|inositol polyphosphate-4-phosphatase, type II, 105kD|type II inositol 3,4-bisphosphate 4-phosphatase|type II inositol-3,4-bisphosphate 4-phosphatase 20141207 9606 8824 CES2 - CE-2|CES2A1|PCE-2|iCE MIM:605278|HGNC:HGNC:1864|Ensembl:ENSG00000172831|HPRD:07062|Vega:OTTHUMG00000137517 16 16q22.1 carboxylesterase 2 protein-coding CES2 carboxylesterase 2 O carboxylesterase 2 (intestine, liver)|cocaine esterase|hCE-2|intestinal carboxylesterase; liver carboxylesterase-2|methylumbelliferyl-acetate deacetylase 2 20141207 9606 8826 IQGAP1 - HUMORFA01|SAR1|p195 MIM:603379|HGNC:HGNC:6110|Ensembl:ENSG00000140575|HPRD:04541|Vega:OTTHUMG00000149832 15 15q26.1 IQ motif containing GTPase activating protein 1 protein-coding IQGAP1 IQ motif containing GTPase activating protein 1 O RasGAP-like with IQ motifs|ras GTPase-activating-like protein IQGAP1 20141222 9606 8833 GMPS - - MIM:600358|HGNC:HGNC:4378|Ensembl:ENSG00000163655|HPRD:10927|Vega:OTTHUMG00000158551 3 3q24 guanine monphosphate synthase protein-coding GMPS guanine monphosphate synthase O GMP synthase|GMP synthase [glutamine-hydrolyzing]|GMP synthetase|MLL/GMPS fusion protein|glutamine amidotransferase|guanine monphosphate synthetase|guanosine 5'-monophosphate synthase 20141207 9606 8841 HDAC3 - HD3|RPD3|RPD3-2 MIM:605166|HGNC:HGNC:4854|Ensembl:ENSG00000171720|HPRD:08950|Vega:OTTHUMG00000129629 5 5q31 histone deacetylase 3 protein-coding HDAC3 histone deacetylase 3 O SMAP45 20141222 9606 8854 ALDH1A2 - RALDH(II)|RALDH2|RALDH2-T MIM:603687|HGNC:HGNC:15472|Ensembl:ENSG00000128918|HPRD:04733|Vega:OTTHUMG00000132624 15 15q21.3 aldehyde dehydrogenase 1 family, member A2 protein-coding ALDH1A2 aldehyde dehydrogenase 1 family, member A2 O RALDH 2|retinal dehydrogenase 2|retinaldehyde-specific dehydrogenase type 2 20141207 9606 8858 PROZ - PZ MIM:176895|HGNC:HGNC:9460|Ensembl:ENSG00000126231|HPRD:07182|Vega:OTTHUMG00000017376 13 13q34 protein Z, vitamin K-dependent plasma glycoprotein protein-coding PROZ protein Z, vitamin K-dependent plasma glycoprotein O vitamin K-dependent protein Z 20141207 9606 8867 SYNJ1 - INPP5G|PARK20 MIM:604297|HGNC:HGNC:11503|Ensembl:ENSG00000159082|HPRD:09182|Vega:OTTHUMG00000064926 21 21q22.2 synaptojanin 1 protein-coding SYNJ1 synaptojanin 1 O inositol 5'-phosphatase (synaptojanin 1)|synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1|synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1|synaptojanin-1|synaptojanin-1, polyphosphoinositide phosphatase 20141207 9606 8871 SYNJ2 RP11-266C7.2 INPP5H MIM:609410|HGNC:HGNC:11504|Ensembl:ENSG00000078269|HPRD:10259|Vega:OTTHUMG00000015904 6 6q25.3 synaptojanin 2 protein-coding SYNJ2 synaptojanin 2 O inositol phosphate 5'-phosphatase 2|synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2|synaptic inositol-1,4,5-trisphosphate 5-phosphatase 2|synaptojanin-2 20141207 9606 8877 SPHK1 - SPHK MIM:603730|HGNC:HGNC:11240|Ensembl:ENSG00000176170|HPRD:04768|Vega:OTTHUMG00000180177 17 17q25.2 sphingosine kinase 1 protein-coding SPHK1 sphingosine kinase 1 O SK 1|SPK 1 20141222 9606 8879 SGPL1 - S1PL|SPL MIM:603729|HGNC:HGNC:10817|Ensembl:ENSG00000166224|HPRD:07224|Vega:OTTHUMG00000018421 10 10q21 sphingosine-1-phosphate lyase 1 protein-coding SGPL1 sphingosine-1-phosphate lyase 1 O SP-lyase 1|SPL 1|hSPL|sphingosine-1-phosphate aldolase 20141222 9606 8884 SLC5A6 - SMVT MIM:604024|HGNC:HGNC:11041|Ensembl:ENSG00000138074|HPRD:04934|Vega:OTTHUMG00000097075 2 2p23 solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 protein-coding SLC5A6 solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 O Na(+)-dependent multivitamin transporter|Na+-dependent multivitamin transporter|sodium-dependent multivitamin transporter|solute carrier family 5 (sodium-dependent vitamin transporter), member 6|solute carrier family 5 member 6 20141211 9606 8890 EIF2B4 - EIF-2B|EIF2B|EIF2Bdelta MIM:606687|HGNC:HGNC:3260|Ensembl:ENSG00000115211|HPRD:09459|Vega:OTTHUMG00000151927 2 2p23.3 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa protein-coding EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa O eIF-2B GDP-GTP exchange factor subunit delta|eukaryotic translation initiation factor 2B subunit 4 delta|translation initiation factor eIF-2B subunit delta|translation initiation factor eIF-2b delta subunit 20141219 9606 8891 EIF2B3 RP5-882O7.2 EIF-2B|EIF2Bgamma MIM:606273|HGNC:HGNC:3259|Ensembl:ENSG00000070785|HPRD:09379|Vega:OTTHUMG00000008585 1 1p34.1 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa protein-coding EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa O eIF-2B GDP-GTP exchange factor subunit gamma|translation initiation factor eIF-2B subunit gamma 20141219 9606 8892 EIF2B2 - EIF-2Bbeta|EIF2B MIM:606454|HGNC:HGNC:3258|HPRD:05923 14 14q24.3 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa protein-coding EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa O S20I15|S20III15|eIF-2B GDP-GTP exchange factor subunit beta|translation initiation factor eIF-2B subunit beta 20141219 9606 8893 EIF2B5 - CACH|CLE|EIF-2B|EIF2Bepsilon|LVWM MIM:603945|HGNC:HGNC:3261|Ensembl:ENSG00000145191|HPRD:04898|Vega:OTTHUMG00000156840 3 3q27.1 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa protein-coding EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa O eIF-2B GDP-GTP exchange factor subunit epsilon|translation initiation factor eIF-2B subunit epsilon 20141219 9606 8894 EIF2S2 - EIF2|EIF2B|EIF2beta|PPP1R67|eIF-2-beta MIM:603908|HGNC:HGNC:3266|Ensembl:ENSG00000125977|HPRD:04882|Vega:OTTHUMG00000032287 20 20q11.2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa protein-coding EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa O eukaryotic translation initiation factor 2 subunit 2|eukaryotic translation initiation factor 2 subunit beta|protein phosphatase 1, regulatory subunit 67 20141207 9606 8897 MTMR3 hCG_2011013 FYVE-DSP1|ZFYVE10 MIM:603558|HGNC:HGNC:7451|Ensembl:ENSG00000100330|HPRD:09151 22 22q12.2 myotubularin related protein 3 protein-coding MTMR3 myotubularin related protein 3 O FYVE (Fab1 YGLO23 Vsp27 EEA1 domain) dual-specificity protein phosphatase|FYVE domain-containing dual specificity protein phosphatase 1|myotubularin-related protein 3|phosphatidylinositol-3,5-bisphosphate 3-phosphatase|phosphatidylinositol-3-phosphate phosphatase|zinc finger FYVE domain-containing protein 10|zinc finger, FYVE domain containing 10 20141207 9606 8898 MTMR2 - CMT4B|CMT4B1 MIM:603557|HGNC:HGNC:7450|Ensembl:ENSG00000087053|HPRD:04650|Vega:OTTHUMG00000153837 11 11q22 myotubularin related protein 2 protein-coding MTMR2 myotubularin related protein 2 O myotubularin-related protein 2|phosphatidylinositol-3,5-bisphosphate 3-phosphatase|phosphatidylinositol-3-phosphate phosphatase 20141219 9606 8908 GYG2 - GN-2|GN2 MIM:300198|HGNC:HGNC:4700|Ensembl:ENSG00000056998|HPRD:02185|Vega:OTTHUMG00000021079 X Xp22.3 glycogenin 2 protein-coding GYG2 glycogenin 2 O glycogenin glucosyltransferase|glycogenin-2 20141207 9606 8942 KYNU - KYNUU MIM:605197|HGNC:HGNC:6469|Ensembl:ENSG00000115919|HPRD:08940|Vega:OTTHUMG00000131829 2 2q22.2 kynureninase protein-coding KYNU kynureninase O L-kynurenine hydrolase 20141207 9606 8972 MGAM - MG|MGA MIM:154360|HGNC:HGNC:7043|Ensembl:ENSG00000257335|HPRD:01104|Vega:OTTHUMG00000158395 7 7q34 maltase-glucoamylase (alpha-glucosidase) protein-coding MGAM maltase-glucoamylase (alpha-glucosidase) O brush border hydrolase|maltase-glucoamylase, intestinal 20141211 9606 8974 P4HA2 UNQ290/PRO330 - MIM:600608|HGNC:HGNC:8547|Ensembl:ENSG00000072682|HPRD:11862|Vega:OTTHUMG00000059647 5 5q31 prolyl 4-hydroxylase, alpha polypeptide II protein-coding P4HA2 prolyl 4-hydroxylase, alpha polypeptide II O 4-PH alpha 2|4-PH alpha-2|C-P4Halpha(II)|collagen prolyl 4-hydroxylase alpha(II)|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II|procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2|prolyl 4-hydroxylase subunit alpha-2 20141207 9606 9023 CH25H - C25H MIM:604551|HGNC:HGNC:1907|Ensembl:ENSG00000138135|HPRD:05183|Vega:OTTHUMG00000018705 10 10q23 cholesterol 25-hydroxylase protein-coding CH25H cholesterol 25-hydroxylase O cholesterol 25-monooxygenase|h25OH 20141207 9606 9045 RPL14 - CAG-ISL-7|CTG-B33|L14|RL14|hRL14 HGNC:HGNC:10305|Ensembl:ENSG00000188846|HPRD:10617|Vega:OTTHUMG00000156046 3 3p22-p21.2 ribosomal protein L14 protein-coding RPL14 ribosomal protein L14 O 60S ribosomal protein L14 20141207 9606 9054 NFS1 HUSSY-08 IscS|NIFS MIM:603485|HGNC:HGNC:15910|Ensembl:ENSG00000244005|HPRD:04597|Vega:OTTHUMG00000032361 20 20q11.22 NFS1 cysteine desulfurase protein-coding NFS1 NFS1 cysteine desulfurase O NFS1 nitrogen fixation 1 homolog|cysteine desulfurase, mitochondrial|nitrogen fixation 1 (S. cerevisiae, homolog)|nitrogen-fixing bacteria S-like protein 20141207 9606 9060 PAPSS2 RP11-77F13.2 ATPSK2|BCYM4|SK2 MIM:603005|HGNC:HGNC:8604|Ensembl:ENSG00000198682|HPRD:04303|Vega:OTTHUMG00000018683 10 10q24 3'-phosphoadenosine 5'-phosphosulfate synthase 2 protein-coding PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 O 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2|ATP sulfurylase/APS kinase 2|ATP sulfurylase/adenosine 5'-phosphosulfate kinase|PAPS synthase 2|PAPS synthetase 2|SK 2|bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2|bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthethase 2 20141207 9606 9061 PAPSS1 - ATPSK1|PAPSS|SK1 MIM:603262|HGNC:HGNC:8603|Ensembl:ENSG00000138801|HPRD:09132|Vega:OTTHUMG00000131210 4 4q24 3'-phosphoadenosine 5'-phosphosulfate synthase 1 protein-coding PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 O 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 1|PAPS synthase 1|PAPSS 1|SK 1|bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1|sulfurylase kinase 1 20141207 9606 9091 PIGQ - GPI1|c407A10.1 MIM:605754|HGNC:HGNC:14135|Ensembl:ENSG00000007541|HPRD:09307|Vega:OTTHUMG00000168047 16 16p13.3 phosphatidylinositol glycan anchor biosynthesis, class Q protein-coding PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q O N-acetylglucosaminyl transferase component Gpi1|N-acetylglucosamyl transferase component GPI1|PIG-Q|c407A10.1 (GPI1 (N-acetylglucosaminyl transferase component))|phosphatidylinositol N-acetylglucosaminyltransferase subunit Q|phosphatidylinositol glycan, class Q|phosphatidylinositol-glycan biosynthesis class Q protein 20141207 9606 9107 MTMR6 RP11-271M24.1 - MIM:603561|HGNC:HGNC:7453|Ensembl:ENSG00000139505|HPRD:11946|Vega:OTTHUMG00000016606 13 13q12 myotubularin related protein 6 protein-coding MTMR6 myotubularin related protein 6 O myotubularin-related protein 6 20141207 9606 9108 MTMR7 - - MIM:603562|HGNC:HGNC:7454|HPRD:16027 8 8p22 myotubularin related protein 7 protein-coding MTMR7 myotubularin related protein 7 O myotubularin-related protein 7 20141207 9606 9110 MTMR4 - FYVE-DSP2|ZFYVE11 MIM:603559|HGNC:HGNC:7452|Ensembl:ENSG00000108389|HPRD:11945|Vega:OTTHUMG00000179079 17 17q22 myotubularin related protein 4 protein-coding MTMR4 myotubularin related protein 4 O FYVE domain-containing dual specificity protein phosphatase 2|myotubularin-related protein 4|zinc finger FYVE domain-containing protein 11|zinc finger, FYVE domain containing 11 20141207 9606 9122 SLC16A4 RP5-1074L1.3 MCT4|MCT5 MIM:603878|HGNC:HGNC:10925|Ensembl:ENSG00000168679|HPRD:04855|Vega:OTTHUMG00000011285 1 1p13.3 solute carrier family 16, member 4 protein-coding SLC16A4 solute carrier family 16, member 4 O MCT 4|MCT 5|monocarboxylate transporter 4|monocarboxylate transporter 5|solute carrier family 16 (monocarboxylic acid transporters), member 4|solute carrier family 16, member 4 (monocarboxylic acid transporter 5) 20141222 9606 9123 SLC16A3 - MCT 3|MCT 4|MCT-3|MCT-4|MCT3|MCT4 MIM:603877|HGNC:HGNC:10924|Ensembl:ENSG00000141526|HPRD:04854|Vega:OTTHUMG00000178832 17 17q25 solute carrier family 16 (monocarboxylate transporter), member 3 protein-coding SLC16A3 solute carrier family 16 (monocarboxylate transporter), member 3 O monocarboxylate transporter 3|monocarboxylate transporter 4|solute carrier family 16 (monocarboxylic acid transporters), member 3|solute carrier family 16, member 3 (monocarboxylic acid transporter 4) 20141207 9606 9125 RQCD1 - CNOT9|CT129|RCD-1|RCD1 MIM:612054|HGNC:HGNC:10445|Ensembl:ENSG00000144580|HPRD:08828|Vega:OTTHUMG00000154750 2 2q35 RCD1 required for cell differentiation1 homolog (S. pombe) protein-coding RQCD1 RCD1 required for cell differentiation1 homolog (S. pombe) O CCR4-NOT transcription complex subunit 9|cancer/testis antigen 129|cell differentiation protein RCD1 homolog|protein involved in sexual development 20141207 9606 9162 DGKI - DGK-IOTA MIM:604072|HGNC:HGNC:2855|Ensembl:ENSG00000157680|HPRD:07238|Vega:OTTHUMG00000155697 7 7q32.3-q33 diacylglycerol kinase, iota protein-coding DGKI diacylglycerol kinase, iota O DAG kinase iota|diacylglycerol kinase iota|diglyceride kinase iota 20141207 9606 9217 VAPB RP5-1018E9.1 ALS8|VAMP-B|VAP-B MIM:605704|HGNC:HGNC:12649|Ensembl:ENSG00000124164|HPRD:09300|Vega:OTTHUMG00000032840 20 20q13.33 VAMP (vesicle-associated membrane protein)-associated protein B and C protein-coding VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C O VAMP-associated 33 kDa protein|vesicle-associated membrane protein-associated protein B/C 20141219 9606 9218 VAPA - VAP-33|VAP-A|VAP33|hVAP-33 MIM:605703|HGNC:HGNC:12648|Ensembl:ENSG00000101558|HPRD:09299|Vega:OTTHUMG00000131603 18 18p11.22 VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa protein-coding VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa O 33 kDa VAMP-associated protein|VAMP-A|VAMP-associated protein A|vesicle-associated membrane protein-associated protein A 20141207 9606 9227 LRAT - LCA14 MIM:604863|HGNC:HGNC:6685|Ensembl:ENSG00000121207|HPRD:05332|Vega:OTTHUMG00000161418 4 4q32.1 lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) protein-coding LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) O lecithin retinol acyltransferase 20141219 9606 9245 GCNT3 - C2/4GnT|C24GNT|C2GNT2|C2GNTM|GNTM MIM:606836|HGNC:HGNC:4205|Ensembl:ENSG00000140297|HPRD:06018|Vega:OTTHUMG00000132726 15 15q21.3 glucosaminyl (N-acetyl) transferase 3, mucin type protein-coding GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type O C2GnT-mucin type|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3|beta1,6-N-acetylglucosaminyltransferase-M|beta1,6GlcNAc-transferase|core 2/core 4 beta-1,6-N-acetylglucosaminyltransferase|hC2GnT-M|mucus-type core 2 beta-1,6-N-acetylglucosaminyltransferase 20141207 9606 9249 DHRS3 RP11-514N2.1 DD83.1|RDH17|Rsdr1|SDR1|SDR16C1|retSDR1 MIM:612830|HGNC:HGNC:17693|Ensembl:ENSG00000162496|HPRD:09915|Vega:OTTHUMG00000001885 1 1p36.1 dehydrogenase/reductase (SDR family) member 3 protein-coding DHRS3 dehydrogenase/reductase (SDR family) member 3 O retinal short-chain dehydrogenase/reductase 1|short chain dehydrogenase/reductase family 16C, member 1|short-chain dehydrogenase/reductase 1|short-chain dehydrogenase/reductase 3 20141207 9606 9261 MAPKAPK2 - MAPKAP-K2|MK-2|MK2 MIM:602006|HGNC:HGNC:6887|Ensembl:ENSG00000162889|HPRD:11882|Vega:OTTHUMG00000036342 1 1q32 mitogen-activated protein kinase-activated protein kinase 2 protein-coding MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2 O MAP kinase-activated protein kinase 2|MAPK-activated protein kinase 2|MAPKAP kinase 2 20141207 9606 9282 MED14 - CRSP150|CRSP2|CSRP|CXorf4|DRIP150|EXLM1|RGR1|TRAP170 MIM:300182|HGNC:HGNC:2370|Ensembl:ENSG00000180182|HPRD:02172|Vega:OTTHUMG00000024107 X Xp11.4 mediator complex subunit 14 protein-coding MED14 mediator complex subunit 14 O ARC150|CRSP complex subunit 2|RGR1 homolog|activator-recruited cofactor 150 kDa component|cofactor required for Sp1 transcriptional activation, subunit 2 (150kD)|hRGR1|human homolog of yeast RGR1|mediator of RNA polymerase II transcription subunit 14|thyroid hormone receptor-associated protein complex 170 kDa component|thyroid hormone receptor-associated protein complex component TRAP170|transcriptional co-activator CRSP150|vitamin D receptor-interacting protein complex component DRIP150|vitamin D3 receptor-interacting protein complex 150 kDa component 20141207 9606 9331 B4GALT6 - B4Gal-T6|beta4Gal-T6 MIM:604017|HGNC:HGNC:929|Ensembl:ENSG00000118276|HPRD:06808|Vega:OTTHUMG00000131980 18 18q11 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 protein-coding B4GALT6 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 O UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6|UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6|beta-1,4-GalTase 6|beta-1,4-galactosyltransferase 6|beta4GalT-VI 20141207 9606 9334 B4GALT5 RP5-1063B2.1 B4Gal-T5|BETA4-GALT-IV|beta4Gal-T5|beta4GalT-V|gt-V MIM:604016|HGNC:HGNC:928|Ensembl:ENSG00000158470|HPRD:06807|Vega:OTTHUMG00000033086 20 20q13.1-q13.2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 protein-coding B4GALT5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 O UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5|UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5|beta-1,4-GalT II|beta-1,4-GalT IV|beta-1,4-GalTase 5|beta-1,4-galactosyltransferase 5|beta-1.4-galactosyltransferase V|beta4-GalT IV 20141207 9606 9337 CNOT8 - CAF1|CALIF|Caf1b|POP2|hCAF1 MIM:603731|HGNC:HGNC:9207|Ensembl:ENSG00000155508|HPRD:07225|Vega:OTTHUMG00000130192 5 5q31-q33 CCR4-NOT transcription complex, subunit 8 protein-coding CNOT8 CCR4-NOT transcription complex, subunit 8 O CAF1-like protein|CAF2|CALIFp|CCR4-NOT transcription complex subunit 8|CCR4-associated factor 8|PGK promoter directed over production 20141207 9606 9348 NDST3 UNQ2544 HSST3 MIM:603950|HGNC:HGNC:7682|Ensembl:ENSG00000164100|Vega:OTTHUMG00000132959 4 4q26 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 protein-coding NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 O GlcNAc N-deacetylase/ N-sulfotransferase 3|N-HSST 3|N-heparan sulfate sulfotransferase 3|NDST-3|bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3|glucosaminyl N-deacetylase/N-sulfotransferase 3|hNDST-3 20141207 9606 9349 RPL23 - L23|rpL17 MIM:603662|HGNC:HGNC:10316|HPRD:04716 17 17q ribosomal protein L23 protein-coding RPL23 ribosomal protein L23 O 60S ribosomal protein L17|60S ribosomal protein L23|ribosomal protein L17 20141207 9606 9380 GRHPR RP11-397D12.2 GLXR|GLYD|PH2 MIM:604296|HGNC:HGNC:4570|Ensembl:ENSG00000137106|HPRD:05052|Vega:OTTHUMG00000019914 9 9q12 glyoxylate reductase/hydroxypyruvate reductase protein-coding GRHPR glyoxylate reductase/hydroxypyruvate reductase O glycerate-2-dehydrogenase 20141219 9606 9388 LIPG UNQ387/PRO719 EDL|EL|PRO719 MIM:603684|HGNC:HGNC:6623|HPRD:04730 18 18q21.1 lipase, endothelial protein-coding LIPG lipase, endothelial O endothelial cell-derived lipase|endothelial lipase|lipoprotein lipase H 20141211 9606 9394 HS6ST1 - HH15|HS6ST MIM:604846|HGNC:HGNC:5201|Ensembl:ENSG00000136720|HPRD:07274|Vega:OTTHUMG00000153542 2 2q21 heparan sulfate 6-O-sulfotransferase 1 protein-coding HS6ST1 heparan sulfate 6-O-sulfotransferase 1 O HS6ST-1|heparan-sulfate 6-O-sulfotransferase 1|heparan-sulfate 6-sulfotransferase 20141207 9606 9412 MED21 - SRB7|SURB7|hSrb7 MIM:603800|HGNC:HGNC:11473|HPRD:09156 12 12p11.23 mediator complex subunit 21 protein-coding MED21 mediator complex subunit 21 O RNA polymerase II holoenzyme component SRB7|RNAPII complex component SRB7|SRB7 suppressor of RNA polymerase B homolog|mediator of RNA polymerase II transcription subunit 21 20141207 9606 9415 FADS2 - D6D|DES6|FADSD6|LLCDL2|SLL0262|TU13 MIM:606149|HGNC:HGNC:3575|Ensembl:ENSG00000134824|HPRD:05854|Vega:OTTHUMG00000163794 11 11q12.2 fatty acid desaturase 2 protein-coding FADS2 fatty acid desaturase 2 O delta(6) desaturase|delta(6) fatty acid desaturase|delta-6 desaturase|delta-6 fatty acid desaturase|delta-6-desaturase|linoleoyl-CoA desaturase (delta-6-desaturase)-like 2 20141211 9606 9429 ABCG2 - ABC15|ABCP|BCRP|BCRP1|BMDP|CD338|CDw338|EST157481|GOUT1|MRX|MXR|MXR1|UAQTL1 MIM:603756|HGNC:HGNC:74|Ensembl:ENSG00000118777|HPRD:04783|Vega:OTTHUMG00000130601 4 4q22 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) protein-coding ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) O ABC transporter|ATP-binding cassette sub-family G member 2|ATP-binding cassette transporter G2|breast cancer resistance protein|mitoxantrone resistance-associated protein|multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2|placenta specific MDR protein|placenta-specific ATP-binding cassette transporter|urate exporter 20141222 9606 9435 CHST2 - C6ST|GST-2|GST2|Gn6ST-1|HEL-S-75|glcNAc6ST-1 MIM:603798|HGNC:HGNC:1970|Ensembl:ENSG00000175040|HPRD:04814|Vega:OTTHUMG00000159351 3 3q24 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 protein-coding CHST2 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 O N-acetylglucosamine 6-O-sulfotransferase 1|carbohydrate (chondroitin 6/keratan) sulfotransferase 2|carbohydrate sulfotransferase 2|epididymis secretory protein Li 75|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 2 20141207 9606 9439 MED23 RP5-914N13.2 ARC130|CRSP130|CRSP133|CRSP3|DRIP130|MRT18|SUR-2|SUR2 MIM:605042|HGNC:HGNC:2372|Ensembl:ENSG00000112282|HPRD:05436|Vega:OTTHUMG00000015565 6 6q22.33-q24.1 mediator complex subunit 23 protein-coding MED23 mediator complex subunit 23 O 130 kDa transcriptional co-activator|133 kDa transcriptional co-activator|activator-recruited cofactor 130 kDa component|cofactor required for Sp1 transcriptional activation subunit 3|mediator of RNA polymerase II transcription subunit 23|vitamin D3 receptor interacting protein 20141207 9606 9440 MED17 - CRSP6|CRSP77|DRIP80|TRAP80 MIM:603810|HGNC:HGNC:2375|HPRD:04816 11 11q14 mediator complex subunit 17 protein-coding MED17 mediator complex subunit 17 O ARC77|CRSP complex subunit 6|activator-recruited cofactor 77 kDa component|cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa|mediator of RNA polymerase II transcription subunit 17|thyroid hormone receptor-associated protein complex 80 kDa component|transcriptional coactivator CRSP77|vitamin D3 receptor-interacting protein complex 80 kDa component 20141207 9606 9441 MED26 - CRSP7|CRSP70 MIM:605043|HGNC:HGNC:2376|Ensembl:ENSG00000105085|HPRD:05437|Vega:OTTHUMG00000182433 19 19p13.11 mediator complex subunit 26 protein-coding MED26 mediator complex subunit 26 O ARC70|CRSP complex subunit 7|activator-recruited cofactor 70 kDa component|cofactor required for Sp1 transcriptional activation subunit 7|cofactor required for Sp1 transcriptional activation, subunit 7 (70kD)|cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa|mediator of RNA polymerase II transcription subunit 26|transcriptional coactivator CRSP70 20141207 9606 9442 MED27 RP11-323H21.4 CRAP34|CRSP34|CRSP8|TRAP37 MIM:605044|HGNC:HGNC:2377|Ensembl:ENSG00000160563|HPRD:05438|Vega:OTTHUMG00000020833 9 9q34.13 mediator complex subunit 27 protein-coding MED27 mediator complex subunit 27 O CRSP complex subunit 8|cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa|mediator of RNA polymerase II transcription subunit 27|p37 TRAP/SMCC/PC2 subunit|transcriptional coactivator CRSP34 20141207 9606 9443 MED7 - ARC34|CRSP33|CRSP9 MIM:605045|HGNC:HGNC:2378|Ensembl:ENSG00000155868|HPRD:05439 5 5q33.3 mediator complex subunit 7 protein-coding MED7 mediator complex subunit 7 O CRSP complex subunit 9|RNA polymerase transcriptional regulation mediator subunit 7 homolog|activator-recruited cofactor 34 kDa component|cofactor required for Sp1 transcriptional activation subunit 9|cofactor required for Sp1 transcriptional activation, subunit 9 (33kD)|cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa|mediator of RNA polymerase II transcription subunit 7|transcriptional coactivator CRSP33 20141207 9606 9446 GSTO1 RP11-99N20.1 GSTO 1-1|GSTTLp28|HEL-S-21|P28|SPG-R MIM:605482|HGNC:HGNC:13312|Ensembl:ENSG00000148834|HPRD:10401|Vega:OTTHUMG00000019001 10 10q25.1 glutathione S-transferase omega 1 protein-coding GSTO1 glutathione S-transferase omega 1 O GSTO-1|MMA(V) reductase|S-(Phenacyl)glutathione reductase|epididymis secretory protein Li 21|glutathione S-transferase omega 1-1|glutathione S-transferase omega-1|glutathione-S-transferase like|glutathione-dependent dehydroascorbate reductase|monomethylarsonic acid reductase 20141207 9606 9453 GGPS1 - GGPPS|GGPPS1 MIM:606982|HGNC:HGNC:4249|Ensembl:ENSG00000152904|HPRD:06099|Vega:OTTHUMG00000037963 1 1q43 geranylgeranyl diphosphate synthase 1 protein-coding GGPS1 geranylgeranyl diphosphate synthase 1 O (2E,6E)-farnesyl diphosphate synthase|GGPP synthase|GGPPSase|dimethylallyltranstransferase|farnesyl diphosphate synthase|farnesyltranstransferase|geranylgeranyl pyrophosphate synthase|geranyltranstransferase 20141207 9606 9468 PCYT1B - CCTB|CTB MIM:604926|HGNC:HGNC:8755|Ensembl:ENSG00000102230|HPRD:05376|Vega:OTTHUMG00000021270 X Xp22.11 phosphate cytidylyltransferase 1, choline, beta protein-coding PCYT1B phosphate cytidylyltransferase 1, choline, beta O CCT B|CCT-beta|CT B|CTP:phosphocholine cytidylyltransferase b|choline-phosphate cytidylyltransferase B|phosphorylcholine transferase B 20141207 9606 9469 CHST3 - C6ST|C6ST1|HSD MIM:603799|HGNC:HGNC:1971|Ensembl:ENSG00000122863|HPRD:07052|Vega:OTTHUMG00000018431 10 10q22.1 carbohydrate (chondroitin 6) sulfotransferase 3 protein-coding CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 O C6ST-1|GST-0|carbohydrate sulfotransferase 3|chondroitin 6-O-sulfotransferase 1|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0 20141219 9606 9477 MED20 RP5-973N23.1 PRO0213|TRFP MIM:612915|HGNC:HGNC:16840|Ensembl:ENSG00000124641|HPRD:15638|Vega:OTTHUMG00000014689 6 6p21.1 mediator complex subunit 20 protein-coding MED20 mediator complex subunit 20 O TRF-proximal protein homolog|Trf (TATA binding protein-related factor)-proximal homolog|hTRFP|mediator complex subunit 20mediator complex subunit 20mediator complex subunit 20Trf (TATA binding protein-related factor)-proximal homolog|mediator of RNA polymerase II transcription subunit 20 20141207 9606 9487 PIGL - CHIME MIM:605947|HGNC:HGNC:8966|Ensembl:ENSG00000108474|HPRD:12071|Vega:OTTHUMG00000059346 17 17p12-p11.2 phosphatidylinositol glycan anchor biosynthesis, class L protein-coding PIGL phosphatidylinositol glycan anchor biosynthesis, class L O N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase|N-acetylglucosaminylphosphatidylinositol deacetylase|PIG-L|phosphatidylinositol glycan, class L|phosphatidylinositol-glycan biosynthesis class L protein 20141207 9606 9488 PIGB - GPI-MT-III|PIG-B MIM:604122|HGNC:HGNC:8959|Ensembl:ENSG00000069943|HPRD:04988|Vega:OTTHUMG00000172654 15 15q21.3 phosphatidylinositol glycan anchor biosynthesis, class B protein-coding PIGB phosphatidylinositol glycan anchor biosynthesis, class B O GPI mannosyltransferase 3|GPI mannosyltransferase III|dol-P-Man dependent GPI mannosyltransferase|phosphatidylinositol glycan, class B|phosphatidylinositol-glycan biosynthesis class B protein 20141207 9606 9489 PGS1 - - MIM:614942|HGNC:HGNC:30029|Ensembl:ENSG00000087157|HPRD:17841|Vega:OTTHUMG00000177514 17 17q25.3 phosphatidylglycerophosphate synthase 1 protein-coding PGS1 phosphatidylglycerophosphate synthase 1 O CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial|PGP synthase 1 20141207 9606 9491 PSMF1 RP4-545L17.1 PI31 HGNC:HGNC:9571|Ensembl:ENSG00000125818|HPRD:17919|Vega:OTTHUMG00000031656 20 20p13 proteasome (prosome, macropain) inhibitor subunit 1 (PI31) protein-coding PSMF1 proteasome (prosome, macropain) inhibitor subunit 1 (PI31) O hPI31|proteasome inhibitor PI31 subunit|proteasome inhibitor hP131 subunit 20141207 9606 9495 AKAP5 - AKAP75|AKAP79|H21 MIM:604688|HGNC:HGNC:375|Ensembl:ENSG00000179841|HPRD:05255|Vega:OTTHUMG00000029634 14 14q23.3 A kinase (PRKA) anchor protein 5 protein-coding AKAP5 A kinase (PRKA) anchor protein 5 O A-kinase anchor protein 5|A-kinase anchor protein 79 kDa|A-kinase anchoring protein 75/79|AKAP 79|cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein 20141207 9606 9512 PMPCB - Beta-MPP|MPP11|MPPB|MPPP52|P-52 MIM:603131|HGNC:HGNC:9119|HPRD:07539 7 7q22.1 peptidase (mitochondrial processing) beta protein-coding PMPCB peptidase (mitochondrial processing) beta O mitochondrial processing peptidase beta subunit|mitochondrial-processing peptidase subunit beta 20141207 9606 9514 GAL3ST1 - CST MIM:602300|HGNC:HGNC:24240|Ensembl:ENSG00000128242|HPRD:03806|Vega:OTTHUMG00000151200 22 22q12.2 galactose-3-O-sulfotransferase 1 protein-coding GAL3ST1 galactose-3-O-sulfotransferase 1 O 3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase|3'-phosphoadenylylsulfate:galactosylceramide 3'-sulfotransferase|GalCer sulfotransferase|cerebroside (3'-phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase|cerebroside sulfotransferase|galactosylceramide sulfotransferase 20141207 9606 9517 SPTLC2 - HSN1C|LCB2|LCB2A|NSAN1C|SPT2|hLCB2a MIM:605713|HGNC:HGNC:11278|Ensembl:ENSG00000100596|HPRD:05755|Vega:OTTHUMG00000171540 14 14q24.3 serine palmitoyltransferase, long chain base subunit 2 protein-coding SPTLC2 serine palmitoyltransferase, long chain base subunit 2 O LCB 2|SPT 2|long chain base biosynthesis protein 2a|serine palmitoyltransferase 2|serine palmitoyltransferase, subunit II|serine-palmitoyl-CoA transferase 2 20141207 9606 9524 TECR - GPSN2|MRT14|SC2|TER MIM:610057|HGNC:HGNC:4551|Ensembl:ENSG00000099797|HPRD:17076|Vega:OTTHUMG00000183290 19 19p13.12 trans-2,3-enoyl-CoA reductase protein-coding TECR trans-2,3-enoyl-CoA reductase O glycoprotein, synaptic 2|synaptic glycoprotein SC2|very-long-chain enoyl-CoA reductase 20141207 9606 9533 POLR1C RP3-337H4.4 RPA39|RPA40|RPA5|RPAC1|TCS3 MIM:610060|HGNC:HGNC:20194|Ensembl:ENSG00000171453|HPRD:09661|Vega:OTTHUMG00000014739 6 6p21.1 polymerase (RNA) I polypeptide C, 30kDa protein-coding POLR1C polymerase (RNA) I polypeptide C, 30kDa O AC40|DNA-directed RNA polymerase I subunit C|DNA-directed RNA polymerases I and III 40 kDa polypeptide|DNA-directed RNA polymerases I and III subunit RPAC1|RNA polymerases I and III subunit AC1|RPC40 20141219 9606 9536 PTGES - MGST-IV|MGST1-L1|MGST1L1|MPGES|PGES|PIG12|PP102|PP1294|TP53I12|mPGES-1 MIM:605172|HGNC:HGNC:9599|Ensembl:ENSG00000148344|HPRD:05528|Vega:OTTHUMG00000020791 9 9q34.3 prostaglandin E synthase protein-coding PTGES prostaglandin E synthase O MGST1-like 1|glutathione S-transferase 1-like 1|microsomal glutathione S-transferase 1-like 1|microsomal prostaglandin E synthase 1|microsomal prostaglandin E synthase-1|p53-induced apoptosis protein 12|p53-induced gene 12 protein|tumor protein p53 inducible protein 12 20141207 9606 9562 MINPP1 RP11-57C13.1 HIPER1|MINPP2|MIPP MIM:605391|HGNC:HGNC:7102|Ensembl:ENSG00000107789|HPRD:05652|Vega:OTTHUMG00000018678 10 10q23 multiple inositol-polyphosphate phosphatase 1 protein-coding MINPP1 multiple inositol-polyphosphate phosphatase 1 O 2,3-BPG phosphatase|2,3-bisphosphoglycerate 3-phosphatase|inositol (1,3,4,5)-tetrakisphosphate 3-phosphatase|ins(1,3,4,5)P(4) 3-phosphatase|multiple inositol polyphosphate histidine phosphatase, 1|multiple inositol polyphosphate phosphatase 1|multiple inositol polyphosphate phosphatase 2 20141207 9606 9572 NR1D1 - EAR1|THRA1|THRAL|ear-1|hRev MIM:602408|HGNC:HGNC:7962|Ensembl:ENSG00000126368|HPRD:03873|Vega:OTTHUMG00000133327 17 17q11.2 nuclear receptor subfamily 1, group D, member 1 protein-coding NR1D1 nuclear receptor subfamily 1, group D, member 1 O Rev-ErbAalpha|V-erbA-related protein 1|nuclear receptor Rev-ErbA-alpha|nuclear receptor subfamily 1 group D member 1|rev-erbA-alpha 20141207 9606 9575 CLOCK - KAT13D|bHLHe8 MIM:601851|HGNC:HGNC:2082|Ensembl:ENSG00000134852|HPRD:03508|Vega:OTTHUMG00000102141 4 4q12 clock circadian regulator protein-coding CLOCK clock circadian regulator O circadian locomoter output cycles kaput protein|circadian locomoter output cycles protein kaput|class E basic helix-loop-helix protein 8|clock homolog 20141222 9606 9583 ENTPD4 - LALP70|LAP70|LYSAL1|NTPDase-4|UDPase MIM:607577|HGNC:HGNC:14573|Ensembl:ENSG00000197217|HPRD:09618|Vega:OTTHUMG00000097852 8 8p21.3 ectonucleoside triphosphate diphosphohydrolase 4 protein-coding ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 O golgi luminal UDPase|guanosine-diphosphatase like protein|lysosomal apyrase-like 1|lysosomal apyrase-like protein of 70 kDa|uridine-diphosphatase 20141207 9606 9588 PRDX6 - 1-Cys|AOP2|HEL-S-128m|NSGPx|PRX|aiPLA2|p29 MIM:602316|HGNC:HGNC:16753|Ensembl:ENSG00000117592|HPRD:03817|Vega:OTTHUMG00000034804 1 1q25.1 peroxiredoxin 6 protein-coding PRDX6 peroxiredoxin 6 O 1-Cys PRX|1-Cys peroxiredoxin|24 kDa protein|acidic calcium-independent phospholipase A2|antioxidant protein 2|epididymis secretory sperm binding protein Li 128m|liver 2D page spot 40|non-selenium glutathione peroxidase|peroxiredoxin-6|red blood cells page spot 12 20141207 9606 9611 NCOR1 - N-CoR|N-CoR1|PPP1R109|TRAC1|hN-CoR MIM:600849|HGNC:HGNC:7672|Ensembl:ENSG00000141027|HPRD:02911|Vega:OTTHUMG00000059309 17 17p11.2 nuclear receptor corepressor 1 protein-coding NCOR1 nuclear receptor corepressor 1 O nuclear receptor co-repressor 1|protein phosphatase 1, regulatory subunit 109|thyroid hormone- and retinoic acid receptor-associated corepressor 1 20141207 9606 9612 NCOR2 - CTG26|N-CoR2|SMAP270|SMRT|SMRTE|SMRTE-tau|TNRC14|TRAC|TRAC-1|TRAC1 MIM:600848|HGNC:HGNC:7673|Ensembl:ENSG00000196498|HPRD:02910|Vega:OTTHUMG00000150455 12 12q24 nuclear receptor corepressor 2 protein-coding NCOR2 nuclear receptor corepressor 2 O CTG repeat protein 26|T3 receptor-associating factor|silencing mediator for retinoid and thyroid hormone receptors|thyroid-, retinoic-acid-receptor-associated corepressor 20141207 9606 9615 GDA RP11-63P12.1 CYPIN|GUANASE|NEDASIN MIM:139260|HGNC:HGNC:4212|Ensembl:ENSG00000119125|HPRD:08849|Vega:OTTHUMG00000020005 9 9q21.13 guanine deaminase protein-coding GDA guanine deaminase O GAH|cytoplasmic PSD95 interactor|guanine aminase|guanine aminohydrolase|p51-nedasin 20141207 9606 9619 ABCG1 - ABC8|WHITE1 MIM:603076|HGNC:HGNC:73|Ensembl:ENSG00000160179|HPRD:04355|Vega:OTTHUMG00000086791 21 21q22.3 ATP-binding cassette, sub-family G (WHITE), member 1 protein-coding ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 O ABC transporter 8|ATP-binding cassette sub-family G member 1|ATP-binding cassette transporter 8|ATP-binding cassette transporter member 1 of subfamily G|homolog of Drosophila white|white protein homolog (ATP-binding cassette transporter 8) 20141207 9606 9630 GNA14 - - MIM:604397|HGNC:HGNC:4382|Ensembl:ENSG00000156049|HPRD:05095|Vega:OTTHUMG00000020058 9 9q21 guanine nucleotide binding protein (G protein), alpha 14 protein-coding GNA14 guanine nucleotide binding protein (G protein), alpha 14 O G-protein subunit alpha-14|g alpha-14|guanine nucleotide-binding protein 14|guanine nucleotide-binding protein subunit alpha-14 20141207 9606 9631 NUP155 - ATFB15|N155 MIM:606694|HGNC:HGNC:8063|Ensembl:ENSG00000113569|HPRD:05984|Vega:OTTHUMG00000090803 5 5p13.1 nucleoporin 155kDa protein-coding NUP155 nucleoporin 155kDa O 155 kDa nucleoporin|nuclear pore complex protein Nup155|nucleoporin 155kD 20141207 9606 9632 SEC24C - - MIM:607185|HGNC:HGNC:10705|Ensembl:ENSG00000176986|HPRD:06217|Vega:OTTHUMG00000018476 10 10q22.2 SEC24 family member C protein-coding SEC24C SEC24 family member C O SEC24 family, member C|SEC24 related gene family, member C|SEC24-related protein C|protein transport protein Sec24C 20141207 9606 9653 HS2ST1 - dJ604K5.2 MIM:604844|HGNC:HGNC:5193|Ensembl:ENSG00000153936|HPRD:09215|Vega:OTTHUMG00000010255 1 1p22.3 heparan sulfate 2-O-sulfotransferase 1 protein-coding HS2ST1 heparan sulfate 2-O-sulfotransferase 1 O 2-O-sulfotransferase|2OST 20141207 9606 9663 LPIN2 - - MIM:605519|HGNC:HGNC:14450|Ensembl:ENSG00000101577|HPRD:16114|Vega:OTTHUMG00000131508 18 18p11.31 lipin 2 protein-coding LPIN2 lipin 2 O lipin-2|phosphatidate phosphatase LPIN2 20141219 9606 9669 EIF5B - IF2 MIM:606086|HGNC:HGNC:30793|Ensembl:ENSG00000158417|HPRD:07304|Vega:OTTHUMG00000153242 2 2q11.2 eukaryotic translation initiation factor 5B protein-coding EIF5B eukaryotic translation initiation factor 5B O eIF-5B|translation initiation factor IF-2|translation initiation factor IF2 20141207 9606 9672 SDC3 - SDCN|SYND3 MIM:186357|HGNC:HGNC:10660|HPRD:01719 1 1p35.2 syndecan 3 protein-coding SDC3 syndecan 3 O N-syndecan|syndecan neural type|syndecan proteoglycan 3|syndecan-3 20141207 9606 9688 NUP93 - NIC96 MIM:614351|HGNC:HGNC:28958|Ensembl:ENSG00000102900|HPRD:14854|Vega:OTTHUMG00000133278 16 16q13 nucleoporin 93kDa protein-coding NUP93 nucleoporin 93kDa O 93 kDa nucleoporin|nuclear pore complex protein Nup93|nucleoporin Nup93 20141207 9606 9695 EDEM1 - EDEM MIM:607673|HGNC:HGNC:18967|Ensembl:ENSG00000134109|HPRD:09644|Vega:OTTHUMG00000154896 3 3p26.1 ER degradation enhancer, mannosidase alpha-like 1 protein-coding EDEM1 ER degradation enhancer, mannosidase alpha-like 1 O ER degradation-enhancing alpha-mannosidase-like 1|ER degradation-enhancing alpha-mannosidase-like protein 1 20141207 9606 9761 MLEC - KIAA0152 MIM:613802|HGNC:HGNC:28973|Ensembl:ENSG00000110917|HPRD:13781|Vega:OTTHUMG00000169187 12 12q24.31 malectin protein-coding MLEC malectin O oligosaccharyltransferase complex subunit (non-catalytic) 20141207 9606 9775 EIF4A3 - DDX48|MUK34|NMP265|NUK34|RCPS|eIF4AIII MIM:608546|HGNC:HGNC:18683|Ensembl:ENSG00000141543|HPRD:06482|Vega:OTTHUMG00000177538 17 17q25.3 eukaryotic translation initiation factor 4A3 protein-coding EIF4A3 eukaryotic translation initiation factor 4A3 O ATP-dependent RNA helicase DDX48|ATP-dependent RNA helicase eIF4A-3|DEAD (Asp-Glu-Ala-Asp) box polypeptide 48|DEAD box protein 48|NMP 265|eIF-4A-III|eIF4A-III|eukaryotic initiation factor 4A-III|eukaryotic initiation factor 4A-like NUK-34|eukaryotic translation initiation factor 4A|hNMP 265|nuclear matrix protein 265 20141207 9606 9789 SPCS2 - - HGNC:HGNC:28962|Ensembl:ENSG00000118363|HPRD:15435|Vega:OTTHUMG00000165517 11 11q13.4 signal peptidase complex subunit 2 homolog (S. cerevisiae) protein-coding SPCS2 signal peptidase complex subunit 2 homolog (S. cerevisiae) O SPase 25 kDa subunit|microsomal signal peptidase 25 kDa subunit|signal peptidase 25kDa subunit|signal peptidase complex subunit 2 20141207 9606 9791 PTDSS1 - LMHD|PSS1|PSSA MIM:612792|HGNC:HGNC:9587|HPRD:17926 8 8q22 phosphatidylserine synthase 1 protein-coding PTDSS1 phosphatidylserine synthase 1 O PSS-1|ptdSer synthase 1|serine-exchange enzyme I 20141207 9606 9804 TOMM20 RP4-597N16.2 MAS20|MOM19|TOM20 MIM:601848|HGNC:HGNC:20947|Ensembl:ENSG00000173726|HPRD:03507|Vega:OTTHUMG00000039619 1 1q42 translocase of outer mitochondrial membrane 20 homolog (yeast) protein-coding TOMM20 translocase of outer mitochondrial membrane 20 homolog (yeast) O mitochondrial 20 kDa outer membrane protein|mitochondrial import receptor subunit TOM20 homolog|outer mitochondrial membrane receptor Tom20|translocase of outer mitochondrial membrane 20 homolog type II 20141207 9606 9818 NUPL1 RP11-206I15.1 PRO2463 MIM:607615|HGNC:HGNC:20261|Ensembl:ENSG00000139496|HPRD:06355|Vega:OTTHUMG00000016608 13 13q12.13 nucleoporin like 1 protein-coding NUPL1 nucleoporin like 1 O nucleoporin p58/p45|nucleoporin-like protein 1 20141207 9606 9836 LCMT2 - PPM2|TYW4 MIM:611246|HGNC:HGNC:17558|HPRD:17267 15 15q15.3 leucine carboxyl methyltransferase 2 protein-coding LCMT2 leucine carboxyl methyltransferase 2 O p21WAF1/CIP1 promoter-interacting protein|tRNA wybutosine-synthesizing protein 4|tRNA yW-synthesizing protein 4|tRNA(Phe) (7-(3-amino-3-(methoxycarbonyl)propyl)wyosine(37)-N)-methoxycarbonyltransferase|tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine(37)-O)-methyltransferase|tRNA-Wybutosine-synthesizing protein 4|tRNA-yW synthesizing protein 4 20141207 9606 9861 PSMD6 - Rpn7|S10|SGA-113M|p42A|p44S10 HGNC:HGNC:9564|Ensembl:ENSG00000163636|HPRD:18370|Vega:OTTHUMG00000158765 3 3p14.1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 protein-coding PSMD6 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 O 26S proteasome non-ATPase regulatory subunit 6|breast cancer-associated protein SGA-113M|phosphonoformate immuno-associated protein 4|proteasome regulatory particle subunit p44S10 20141207 9606 9862 MED24 - ARC100|CRSP100|CRSP4|DRIP100|THRAP4|TRAP100 MIM:607000|HGNC:HGNC:22963|Ensembl:ENSG00000008838|HPRD:06107|Vega:OTTHUMG00000133329 17 17q21.1 mediator complex subunit 24 protein-coding MED24 mediator complex subunit 24 O CRSP complex subunit 4|activator-recruited cofactor 100 kDa component|cofactor required for Sp1 transcriptional activation subunit 4|cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa|mediator of RNA polymerase II transcription subunit 24|mediator of RNA polymerase II transcription, subunit 24 homolog|thyroid hormone receptor associated protein 4|thyroid hormone receptor-associated protein 4|thyroid hormone receptor-associated protein complex 100 kDa component|vitamin D3 receptor-interacting protein complex 100 kDa component|vitamin D3 receptor-interacting protein complex component DRIP100 20141207 9606 9868 TOMM70A - - MIM:606081|HGNC:HGNC:11985|Ensembl:ENSG00000154174|HPRD:16194|Vega:OTTHUMG00000159065 3 3q12.2 translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) protein-coding TOMM70A translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) O mitochondrial import receptor subunit TOM70|mitochondrial precursor proteins import receptor|translocase of outer membrane 70 kDa subunit 20141207 9606 9871 SEC24D - - MIM:607186|HGNC:HGNC:10706|Ensembl:ENSG00000150961|HPRD:06218|Vega:OTTHUMG00000132957 4 4q26 SEC24 family member D protein-coding SEC24D SEC24 family member D O SEC24 family, member D|SEC24 related gene family, member D|SEC24-related protein D|protein transport protein Sec24D 20141207 9606 9883 POM121 - P145|POM121A MIM:615753|HGNC:HGNC:19702|Ensembl:ENSG00000196313|HPRD:11448|Vega:OTTHUMG00000023527 7 7q11.23 POM121 transmembrane nucleoporin protein-coding POM121 POM121 transmembrane nucleoporin O POM121 membrane glycoprotein|nuclear envelope pore membrane protein POM 121|nuclear envelope pore membrane protein POM 121A|nuclear pore membrane protein 121 kDa|nucleoporin Nup121 20141207 9606 9887 SMG7 RP1-127C7.1 C1orf16|EST1C|SGA56M MIM:610964|HGNC:HGNC:16792|Ensembl:ENSG00000116698|HPRD:10723|Vega:OTTHUMG00000035221 1 1q25 SMG7 nonsense mediated mRNA decay factor protein-coding SMG7 SMG7 nonsense mediated mRNA decay factor O EST1 telomerase component homolog C|EST1-like protein C|breast cancer-associated antigen SGA-56M|ever shorter telomeres 1C|protein SMG7|smg-7 homolog, nonsense mediated mRNA decay factor 20141207 9606 9896 FIG4 RP1-249I4.1 ALS11|BTOP|CMT4J|KIAA0274|SAC3|YVS|dJ249I4.1 MIM:609390|HGNC:HGNC:16873|Ensembl:ENSG00000112367|HPRD:11073|Vega:OTTHUMG00000015352 6 6q21 FIG4 phosphoinositide 5-phosphatase protein-coding FIG4 FIG4 phosphoinositide 5-phosphatase O FIG4 homolog, SAC domain containing lipid phosphatase|FIG4 homolog, SAC1 domain containing lipid phosphatase|FIG4 homolog, SAC1 lipid phosphatase domain containing|SAC domain-containing protein 3|Sac domain-containing inositol phosphatase 3|phosphatidylinositol 3,5-bisphosphate 5-phosphatase|polyphosphoinositide phosphatase 20141219 9606 9926 LPGAT1 - FAM34A|FAM34A1|NET8 MIM:610473|HGNC:HGNC:28985|Ensembl:ENSG00000123684|HPRD:14304|Vega:OTTHUMG00000037120 1 1q32 lysophosphatidylglycerol acyltransferase 1 protein-coding LPGAT1 lysophosphatidylglycerol acyltransferase 1 O acyl-CoA:lysophosphatidylglycerol acyltransferase 1|family with sequence similarity 34, member A 20141207 9606 9939 RBM8A HSPC114 BOV-1A|BOV-1B|BOV-1C|C1DELq21.1|DEL1q21.1|MDS014|RBM8|RBM8B|TAR|Y14|ZNRP|ZRNP1 MIM:605313|HGNC:HGNC:9905|Ensembl:ENSG00000265241|HPRD:05609|Vega:OTTHUMG00000013736 1 1q21.1 RNA binding motif protein 8A protein-coding RBM8A RNA binding motif protein 8A O BOV-1|RNA binding motif protein 8B|RNA-binding motif protein 8A|RNA-binding protein 8A|RNA-binding protein Y14|binder of OVCA1-1|ribonucleoprotein RBM8|ribonucleoprotein RBM8A 20141219 9606 9945 GFPT2 - GFAT2 MIM:603865|HGNC:HGNC:4242|Ensembl:ENSG00000131459|HPRD:04842|Vega:OTTHUMG00000163442 5 5q34-q35 glutamine-fructose-6-phosphate transaminase 2 protein-coding GFPT2 glutamine-fructose-6-phosphate transaminase 2 O D-fructose-6-phosphate amidotransferase 2|GFAT 2|glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 2|glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2|glutamine: fructose-6-phosphate aminotransferase 2|glutamine:fructose 6 phosphate amidotransferase 2|glutamine:fructose-6-phosphate amidotransferase 2|hexosephosphate aminotransferase 2 20141207 9606 9951 HS3ST4 - 3-OST-4|30ST4|3OST4|h3-OST-4 MIM:604059|HGNC:HGNC:5200|Ensembl:ENSG00000182601|HPRD:04960|Vega:OTTHUMG00000059978 16 16p11.2 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 protein-coding HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 O heparan sulfate 3-O-sulfotransferase 4|heparan sulfate 3-O-sulfotransferase-4|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4|heparan sulfate glucosamine 3-O-sulfotransferase 4 20141207 9606 9953 HS3ST3B1 - 30ST3B1|3OST3B1 MIM:604058|HGNC:HGNC:5198|HPRD:04959 17 17p12 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 protein-coding HS3ST3B1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 O 3-OST-3B|h3-OST-3B|heparan sulfate 3-O-sulfotransferase 3B1|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1|heparan sulfate glucosamine 3-O-sulfotransferase 3B1 20141207 9606 9955 HS3ST3A1 UNQ2551/PRO6180 30ST3A1|3OST3A1 MIM:604057|HGNC:HGNC:5196|Ensembl:ENSG00000153976|HPRD:04958|Vega:OTTHUMG00000058768 17 17p12 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 protein-coding HS3ST3A1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 O 3-OST-3A|h3-OST-3A|heparan sulfate 3-O-sulfotransferase 3A1|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1|heparan sulfate glucosamine 3-O-sulfotransferase 3A1|heparin-glucosamine 3-O-sulfotransferase 20141207 9606 9956 HS3ST2 UNQ2442/PRO5004 30ST2|3OST2 MIM:604056|HGNC:HGNC:5195|Ensembl:ENSG00000122254|HPRD:04957|Vega:OTTHUMG00000094785 16 16p12 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 protein-coding HS3ST2 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 O 3-OST-2|h3-OST-2|heparan sulfate 3-O-sulfotransferase 2|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 2|heparan sulfate glucosamine 3-O-sulfotransferase 2|heparin-glucosamine 3-O-sulfotransferase 20141207 9606 9957 HS3ST1 - 3OST|3OST1 MIM:603244|HGNC:HGNC:5194|HPRD:04455 4 4p16 heparan sulfate (glucosamine) 3-O-sulfotransferase 1 protein-coding HS3ST1 heparan sulfate (glucosamine) 3-O-sulfotransferase 1 O 3-OST-1|h3-OST-1|heparan sulfate 3-O-sulfotransferase 1|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1|heparan sulfate glucosamine 3-O-sulfotransferase 1|heparin-glucosamine 3-O-sulfotransferase 20141207 9606 9962 SLC23A2 RP1-237C24.1 NBTL1|SLC23A1|SVCT2|YSPL2 MIM:603791|HGNC:HGNC:10973|Ensembl:ENSG00000089057|HPRD:04811|Vega:OTTHUMG00000031793 20 20p13 solute carrier family 23 (ascorbic acid transporter), member 2 protein-coding SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2 O Na(+)/L-ascorbic acid transporter 2|hSVCT2|nucleobase transporter-like 1 protein|sodium-dependent vitamin C transporter-2|solute carrier family 23 (nucleobase transporters), member 1|solute carrier family 23 (nucleobase transporters), member 2|solute carrier family 23 member 2|yolk sac permease-like molecule 2 20141222 9606 9963 SLC23A1 - SLC23A2|SVCT1|YSPL3 MIM:603790|HGNC:HGNC:10974|Ensembl:ENSG00000170482|HPRD:04810|Vega:OTTHUMG00000129228 5 5q31.2 solute carrier family 23 (ascorbic acid transporter), member 1 protein-coding SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1 O Na(+)/L-ascorbic acid transporter 1|hSVCT1|sodium-dependent vitamin C transporter 1|sodium-dependent vitamin C transporter-1|solute carrier family 23 (nucleobase transporters), member 1|solute carrier family 23 (nucleobase transporters), member 2|solute carrier family 23 member 1|yolk sac permease-like molecule 3 20141222 9606 9968 MED12 - ARC240|CAGH45|FGS1|HOPA|MED12S|OHDOX|OKS|OPA1|TNRC11|TRAP230 MIM:300188|HGNC:HGNC:11957|Ensembl:ENSG00000184634|HPRD:02176|Vega:OTTHUMG00000021788 X Xq13 mediator complex subunit 12 protein-coding MED12 mediator complex subunit 12 O CAG repeat protein 45|OPA-containing protein|activator-recruited cofactor 240 kDa component|human opposite paired|mediator of RNA polymerase II transcription subunit 12|mediator of RNA polymerase II transcription, subunit 12 homolog|putative mediator subunit 12|thyroid hormone receptor-associated protein complex 230 kDa component|thyroid hormone receptor-associated protein, 230 kDa subunit|trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit)|trinucleotide repeat-containing gene 11 protein 20141219 9606 9972 NUP153 - HNUP153|N153 MIM:603948|HGNC:HGNC:8062|Ensembl:ENSG00000124789|HPRD:04899|Vega:OTTHUMG00000014312 6 6p22.3 nucleoporin 153kDa protein-coding NUP153 nucleoporin 153kDa O 153 kDa nucleoporin|nuclear pore complex protein Nup153|nuclear pore complex protein hnup153|nucleoporin 153kD|nucleoporin Nup153 20141207 9606 9997 SCO2 - CEMCOX1|MYP6|SCO1L MIM:604272|HGNC:HGNC:10604|Ensembl:ENSG00000130489|HPRD:05042|Vega:OTTHUMG00000150251 22 22q13.33 SCO2 cytochrome c oxidase assembly protein protein-coding SCO2 SCO2 cytochrome c oxidase assembly protein O SCO cytochrome oxidase deficient homolog 2|protein SCO2 homolog, mitochondrial 20141207 9606 10001 MED6 - ARC33|NY-REN-28 MIM:602984|HGNC:HGNC:19970|Ensembl:ENSG00000133997|HPRD:04284|Vega:OTTHUMG00000171252 14 14q24.2 mediator complex subunit 6 protein-coding MED6 mediator complex subunit 6 O CTD-2540L5.5|activator-recruited cofactor 33 kDa component|mediator of RNA polymerase II transcription subunit 6|renal carcinoma antigen NY-REN-28 20141207 9606 10002 NR2E3 - ESCS|PNR|RNR|RP37|rd7 MIM:604485|HGNC:HGNC:7974|Ensembl:ENSG00000278570|HPRD:05132|Vega:OTTHUMG00000172841 15 15q23 nuclear receptor subfamily 2, group E, member 3 protein-coding NR2E3 nuclear receptor subfamily 2, group E, member 3 O photoreceptor-specific nuclear receptor|retina-specific nuclear receptor 20141219 9606 10005 ACOT8 RP3-337O18.2 HNAACTE|PTE-1|PTE-2|PTE1|PTE2|hACTE-III|hTE MIM:608123|HGNC:HGNC:15919|Ensembl:ENSG00000101473|HPRD:06998|Vega:OTTHUMG00000033045 20 20q13.12 acyl-CoA thioesterase 8 protein-coding ACOT8 acyl-CoA thioesterase 8 O HIV-Nef associated acyl-CoA thioesterase|acyl-coenzyme A thioesterase 8|choloyl-CoA hydrolase|choloyl-coenzyme A thioesterase|long-chain fatty-acyl-CoA hydrolase|palmitoyl-CoA hydrolase|peroxisomal acyl-CoA thioesterase 1|peroxisomal acyl-coenzyme A thioester hydrolase 1|peroxisomal long-chain acyl-CoA thioesterase 1|thioesterase II|thioesterase III 20141222 9606 10007 GNPDA1 - GNP1|GNPDA|GNPI|GPI|HLN MIM:601798|HGNC:HGNC:4417|Ensembl:ENSG00000113552|HPRD:09048|Vega:OTTHUMG00000129657 5 5q21 glucosamine-6-phosphate deaminase 1 protein-coding GNPDA1 glucosamine-6-phosphate deaminase 1 O GNPDA 1|glcN6P deaminase 1|glucosamine-6-phosphate isomerase 1|oscillin 20141207 9606 10020 GNE - DMRV|GLCNE|IBM2|NM|Uae1 MIM:603824|HGNC:HGNC:23657|Ensembl:ENSG00000159921|HPRD:04825|Vega:OTTHUMG00000019899 9 9p13.3 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase protein-coding GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase O N-acylmannosamine kinase|UDP-GlcNAc-2-epimerase/ManAc kinase|UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase|UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase|bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase 20141222 9606 10025 MED16 - DRIP92|THRAP5|TRAP95 MIM:604062|HGNC:HGNC:17556|Ensembl:ENSG00000175221|HPRD:06816|Vega:OTTHUMG00000181841 19 19p13.3 mediator complex subunit 16 protein-coding MED16 mediator complex subunit 16 O mediator of RNA polymerase II transcription subunit 16|thyroid hormone receptor-associated protein 5|thyroid hormone receptor-associated protein complex 95 kDa component|thyroid hormone receptor-associated protein, 95-kD subunit|vitamin D3 receptor-interacting protein complex 92 kDa component 20141207 9606 10026 PIGK RP4-564M11.1 GPI8 MIM:605087|HGNC:HGNC:8965|Ensembl:ENSG00000142892|HPRD:05474|Vega:OTTHUMG00000009686 1 1p31.1 phosphatidylinositol glycan anchor biosynthesis, class K protein-coding PIGK phosphatidylinositol glycan anchor biosynthesis, class K O GPI transamidase subunit|GPI-anchor transamidase|GPI8 homolog|PIG-K|phosphatidylinositol glycan, class K|phosphatidylinositol-glycan biosynthesis class K protein 20141207 9606 10057 ABCC5 - ABC33|EST277145|MOAT-C|MOATC|MRP5|SMRP|pABC11 MIM:605251|HGNC:HGNC:56|Ensembl:ENSG00000114770|HPRD:06898|Vega:OTTHUMG00000156871 3 3q27 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 protein-coding ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 O ATP-binding cassette sub-family C member 5|canalicular multispecific organic anion transporter C|multi-specific organic anion transporter C|multidrug resistance-associated protein 5 20141207 9606 10063 COX17 - - MIM:604813|HGNC:HGNC:2264|HPRD:05314 3 3q13.33 COX17 cytochrome c oxidase copper chaperone protein-coding COX17 COX17 cytochrome c oxidase copper chaperone O COX17 cytochrome c oxidase assembly homolog|cytochrome c oxidase 17 copper chaperone|cytochrome c oxidase assembly homolog 17|cytochrome c oxidase copper chaperone|human homolog of yeast mitochondrial copper recruitment 20141207 9606 10071 MUC12 - MUC-11|MUC-12|MUC11 MIM:604609|HGNC:HGNC:7510|Ensembl:ENSG00000205277|Vega:OTTHUMG00000157042 7 7q22 mucin 12, cell surface associated protein-coding MUC12 mucin 12, cell surface associated O mucin 11|mucin-11|mucin-12 20141207 9606 10073 SNUPN - KPNBL|RNUT1|Snurportin1 MIM:607902|HGNC:HGNC:14245|Ensembl:ENSG00000169371|HPRD:07441|Vega:OTTHUMG00000142833 15 15q24.2 snurportin 1 protein-coding SNUPN snurportin 1 O RNA U transporter 1|RNA, U transporter 1|snurportin-1 20141207 9606 10082 GPC6 UNQ369/PRO705 OMIMD1 MIM:604404|HGNC:HGNC:4454|Ensembl:ENSG00000183098|HPRD:05099|Vega:OTTHUMG00000017205 13 13q32 glypican 6 protein-coding GPC6 glypican 6 O glypican proteoglycan 6|glypican-6 20141207 9606 10087 COL4A3BP - CERT|CERTL|GPBP|STARD11 MIM:604677|HGNC:HGNC:2205|Ensembl:ENSG00000113163|HPRD:05246|Vega:OTTHUMG00000102068 5 5q13.3 collagen, type IV, alpha 3 (Goodpasture antigen) binding protein protein-coding COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein O StAR-related lipid transfer (START) domain containing 11|ceramide transfer protein|ceramide transporter|collagen type IV alpha-3-binding protein|hCERT|lipid-transfer protein CERTL 20141207 9606 10090 UST - 2OST MIM:610752|HGNC:HGNC:17223|Ensembl:ENSG00000111962|HPRD:10298|Vega:OTTHUMG00000016135 6 6q25.1 uronyl-2-sulfotransferase protein-coding UST uronyl-2-sulfotransferase O dermatan/chondroitin sulfate 2-sulfotransferase|uronyl 2-sulfotransferase 20141207 9606 10113 PREB - SEC12 MIM:606395|HGNC:HGNC:9356|Ensembl:ENSG00000138073|HPRD:16216|Vega:OTTHUMG00000097076 2 2p23.3 prolactin regulatory element binding protein-coding PREB prolactin regulatory element binding O mammalian guanine nucleotide exchange factor mSec12|prolactin regulatory binding-element protein|prolactin regulatory element-binding protein 20141207 9606 10135 NAMPT - 1110035O14Rik|PBEF|PBEF1|VF|VISFATIN MIM:608764|HGNC:HGNC:30092|Ensembl:ENSG00000105835|HPRD:09938|Vega:OTTHUMG00000140388 7 7q22.3 nicotinamide phosphoribosyltransferase protein-coding NAMPT nicotinamide phosphoribosyltransferase O NAmPRTase|pre-B cell-enhancing factor|pre-B-cell colony enhancing factor 1|pre-B-cell colony-enhancing factor 1 20141222 9606 10157 AASS - LKR/SDH|LKRSDH|LORSDH MIM:605113|HGNC:HGNC:17366|HPRD:05489 7 7q31.3 aminoadipate-semialdehyde synthase protein-coding AASS aminoadipate-semialdehyde synthase O alpha-aminoadipate semialdehyde synthase|alpha-aminoadipic semialdehyde synthase, mitochondrial|aminoadipic semialdehyde synthase|lysine-2-oxoglutarate reductase|lysine-ketoglutarate reductase /saccharopine dehydrogenase 20141207 9606 10162 LPCAT3 - C3F|LPCAT|LPLAT 5|LPSAT|MBOAT5|OACT5|nessy MIM:611950|HGNC:HGNC:30244|Ensembl:ENSG00000111684|HPRD:12816|Vega:OTTHUMG00000168970 12 12p13 lysophosphatidylcholine acyltransferase 3 protein-coding LPCAT3 lysophosphatidylcholine acyltransferase 3 O 1-acylglycerophosphocholine O-acyltransferase|1-acylglycerophosphoserine O-acyltransferase|O-acyltransferase (membrane bound) domain containing 5|O-acyltransferase domain-containing protein 5|lyso-PC acyltransferase 3|lyso-PS acyltransferase|lysophosphatidylserine acyltransferase|lysophospholipid acyltransferase 5|membrane bound O-acyltransferase domain containing 5|membrane-bound O-acyltransferase domain-containing protein 5|putative protein similar to nessy 20141207 9606 10165 SLC25A13 - ARALAR2|CITRIN|CTLN2 MIM:603859|HGNC:HGNC:10983|Ensembl:ENSG00000004864|HPRD:04837|Vega:OTTHUMG00000023074 7 7q21.3 solute carrier family 25 (aspartate/glutamate carrier), member 13 protein-coding SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 O calcium-binding mitochondrial carrier protein Aralar2|mitochondrial aspartate glutamate carrier 2|solute carrier family 25, member 13 (citrin) 20141222 9606 10166 SLC25A15 RP11-346L13.4 D13S327|HHH|ORC1|ORNT1 MIM:603861|HGNC:HGNC:10985|HPRD:04838 13 13q14 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 protein-coding SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 O mitochondrial ornithine transporter 1|ornithine transporter 1|solute carrier family 25 member 15 20141219 9606 10170 DHRS9 UNQ835/PRO1773 3-alpha-HSD|3ALPHA-HSD|RDH-E2|RDH-TBE|RDH15|RDHL|RDHTBE|RETSDR8|SDR9C4 MIM:612131|HGNC:HGNC:16888|Ensembl:ENSG00000073737|HPRD:09916|Vega:OTTHUMG00000132180 2 2q31.1 dehydrogenase/reductase (SDR family) member 9 protein-coding DHRS9 dehydrogenase/reductase (SDR family) member 9 O 3-alpha hydroxysteroid dehydrogenase|NADP-dependent retinol dehydrogenase/reductase|dehydrogenase/reductase SDR family member 9|retinol dehydrogenase homolog|short chain dehydrogenase/reductase family 9C, member 4|short-chain dehydrogenase/reductase retSDR8|tracheobronchial epithelial cell-specific retinol dehydrogenase 20141207 9606 10195 ALG3 - CDG1D|CDGS4|D16Ertd36e|NOT56L|Not56 MIM:608750|HGNC:HGNC:23056|Ensembl:ENSG00000214160|HPRD:03067|Vega:OTTHUMG00000156823 3 3q27.1 ALG3, alpha-1,3- mannosyltransferase protein-coding ALG3 ALG3, alpha-1,3- mannosyltransferase O Not56-like protein|asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)|asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)|asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog|asparagine-linked glycosylation protein 3 homolog|carbohydrate deficient glycoprotein syndrome type IV|dol-P-Man dependent alpha(1-3)-mannosyltransferase|dol-P-Man dependent alpha-1,3- mannosyltransferase|dol-P-Man-dependent alpha(1-3)-mannosyltransferase|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase|dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase|dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase 20141219 9606 10201 NME6 - IPIA-ALPHA|NDK 6|NM23-H6 MIM:608294|HGNC:HGNC:20567|Ensembl:ENSG00000172113|HPRD:09219|Vega:OTTHUMG00000133531 3 3p21 NME/NM23 nucleoside diphosphate kinase 6 protein-coding NME6 NME/NM23 nucleoside diphosphate kinase 6 O NDP kinase 6|inhibitor of p53-induced apoptosis-alpha|non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)|nucleoside diphosphate kinase 6 20141207 9606 10213 PSMD14 - PAD1|POH1|RPN11 MIM:607173|HGNC:HGNC:16889|Ensembl:ENSG00000115233|HPRD:06208|Vega:OTTHUMG00000153882 2 2q24.2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 protein-coding PSMD14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 O 26S proteasome non-ATPase regulatory subunit 14|26S proteasome regulatory subunit rpn11|26S proteasome-associated PAD1 homolog 1 20141207 9606 10243 GPHN - GEPH|GPH|GPHRYN|HKPX1|MOCODC MIM:603930|HGNC:HGNC:15465|Ensembl:ENSG00000171723|HPRD:04893|Vega:OTTHUMG00000029785 14 14q23.3 gephyrin protein-coding GPHN gephyrin O - 20141219 9606 10245 TIMM17B JM3 DXS9822|TIM17B MIM:300249|HGNC:HGNC:17310|Ensembl:ENSG00000126768|HPRD:02218|Vega:OTTHUMG00000034498 X Xp11.23 translocase of inner mitochondrial membrane 17 homolog B (yeast) protein-coding TIMM17B translocase of inner mitochondrial membrane 17 homolog B (yeast) O inner mitochondrial membrane preprotein translocase|mitochondrial import inner membrane translocase subunit Tim17-B 20141207 9606 10327 AKR1A1 RP4-697E16.2 ALDR1|ALR|ARM|DD3|HEL-S-6 MIM:103830|HGNC:HGNC:380|Ensembl:ENSG00000117448|HPRD:00069|Vega:OTTHUMG00000007740 1 1p33-p32 aldo-keto reductase family 1, member A1 (aldehyde reductase) protein-coding AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase) O HEL-S-165mP|alcohol dehydrogenase|alcohol dehydrogenase [NADP(+)]|aldehyde reductase|aldo-keto reductase family 1 member A1|dihydrodiol dehydrogenase 3|epididymis secretory protein Li 6|epididymis secretory sperm binding protein Li 165mP 20141207 9606 10331 B3GNT3 UNQ637/PRO1266 B3GAL-T8|B3GN-T3|B3GNT-3|HP10328|TMEM3|beta3Gn-T3 MIM:605863|HGNC:HGNC:13528|Ensembl:ENSG00000179913|HPRD:10431|Vega:OTTHUMG00000183490 19 19p13.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 protein-coding B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 O UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8|beta-1,3-GalTase 8|beta-1,3-Gn-T3|beta-1,3-N-acetylglucosaminyltransferase bGnT-3|beta-3-Gx-T8|beta3GalT8|core 1 extending beta-1,3-N-acetylglucosaminyltransferase|core1-beta3GlcNAcT|putative type II membrane protein|transmembrane protein 3 20141207 9606 10352 WARS2 - TrpRS MIM:604733|HGNC:HGNC:12730|Ensembl:ENSG00000116874|HPRD:05295|Vega:OTTHUMG00000012335 1 1p12 tryptophanyl tRNA synthetase 2, mitochondrial protein-coding WARS2 tryptophanyl tRNA synthetase 2, mitochondrial O (Mt)TrpRS|tryptophan tRNA ligase 2, mitochondrial|tryptophan--tRNA ligase, mitochondrial|tryptophan-tRNA ligase|tryptophanyl-tRNA synthetase, mitochondrial 20141207 9606 10376 TUBA1B - K-ALPHA-1 MIM:602530|HGNC:HGNC:18809|Ensembl:ENSG00000123416|HPRD:03960|Vega:OTTHUMG00000170410 12 12q13.12 tubulin, alpha 1b protein-coding TUBA1B tubulin, alpha 1b O alpha tubulin|alpha-tubulin ubiquitous|tubulin K-alpha-1|tubulin alpha-1B chain|tubulin alpha-ubiquitous chain|tubulin, alpha, ubiquitous 20141207 9606 10380 BPNT1 - HEL20|PIP MIM:604053|HGNC:HGNC:1096|Ensembl:ENSG00000162813|HPRD:06814|Vega:OTTHUMG00000037435 1 1q41 3'(2'), 5'-bisphosphate nucleotidase 1 protein-coding BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 O 3'(2'),5'-bisphosphate nucleotidase 1|BPntase|PAP-inositol 1,4-phosphatase|PAP-inositol-1,4-phosphatase|bisphosphate 3'-nucleotidase 1|epididymis luminal protein 20 20141207 9606 10381 TUBB3 - CDCBM|CDCBM1|CFEOM3|CFEOM3A|FEOM3|TUBB4|beta-4 MIM:602661|HGNC:HGNC:20772|Ensembl:ENSG00000258947|HPRD:04044|Vega:OTTHUMG00000138985 16 16q24.3 tubulin, beta 3 class III protein-coding TUBB3 tubulin, beta 3 class III O class III beta-tubulin|tubulin beta-3 chain|tubulin beta-4 chain|tubulin beta-III 20141222 9606 10382 TUBB4A - DYT4|TUBB4|beta-5 MIM:602662|HGNC:HGNC:20774|Ensembl:ENSG00000104833|HPRD:04045|Vega:OTTHUMG00000181829 19 19p13.3 tubulin, beta 4A class IVa protein-coding TUBB4A tubulin, beta 4A class IVa O dystonia 4, torsion (autosomal dominant)|tubulin beta-4 chain|tubulin beta-4A chain|tubulin, beta 4|tubulin, beta, 5 20141209 9606 10383 TUBB4B RP13-122B23.2 Beta2|TUBB2|TUBB2C MIM:602660|HGNC:HGNC:20771|Ensembl:ENSG00000188229|HPRD:04043|Vega:OTTHUMG00000131783 9 9q34 tubulin, beta 4B class IVb protein-coding TUBB4B tubulin, beta 4B class IVb O class IVb beta tubulin|class IVb beta-tubulin|tubulin beta-2 chain|tubulin beta-2C chain|tubulin beta-4B chain|tubulin, beta 2C|tubulin, beta, 2 20141207 9606 10390 CEPT1 PRO1101 - HGNC:HGNC:24289|Ensembl:ENSG00000134255|HPRD:13024|Vega:OTTHUMG00000012357 1 1p13.3 choline/ethanolamine phosphotransferase 1 protein-coding CEPT1 choline/ethanolamine phosphotransferase 1 O choline/ethanolaminephosphotransferase|choline/ethanolaminephosphotransferase 1|hCEPT1 20141207 9606 10400 PEMT - PEAMT|PEMPT|PEMT2|PNMT MIM:602391|HGNC:HGNC:8830|Ensembl:ENSG00000133027|HPRD:03862|Vega:OTTHUMG00000059290 17 17p11.2 phosphatidylethanolamine N-methyltransferase protein-coding PEMT phosphatidylethanolamine N-methyltransferase O - 20141207 9606 10402 ST3GAL6 - SIAT10|ST3GALVI MIM:607156|HGNC:HGNC:18080|Ensembl:ENSG00000064225|HPRD:06195 3 3q12.1 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 protein-coding ST3GAL6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 O CMP-NeuAc:beta-galactoside alpha-2,3-sialyltransferase VI|alpha2,3-sialyltransferase ST3Gal VI|sialyltransferase 10 (alpha-2,3-sialyltransferase VI)|type 2 lactosamine alpha-2,3-sialyltransferase 20141207 9606 10411 RAPGEF3 - CAMP-GEFI|EPAC|EPAC1|HSU79275|bcm910 MIM:606057|HGNC:HGNC:16629|Ensembl:ENSG00000079337|HPRD:06928|Vega:OTTHUMG00000133667 12 12q13.1 Rap guanine nucleotide exchange factor (GEF) 3 protein-coding RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 O 9330170P05Rik|EPAC 1|Rap1 guanine-nucleotide-exchange factor directly activated by cAMP|cAMP-regulated guanine nucleotide exchange factor I|exchange factor directly activated by cAMP 1|exchange protein directly activated by cAMP 1|rap guanine nucleotide exchange factor 3 20141207 9606 10413 YAP1 - COB1|YAP|YAP2|YAP65|YKI MIM:606608|HGNC:HGNC:16262|Ensembl:ENSG00000137693|HPRD:09424|Vega:OTTHUMG00000167322 11 11q13 Yes-associated protein 1 protein-coding YAP1 Yes-associated protein 1 O 65 kDa Yes-associated protein|protein yorkie homolog|transcriptional coactivator YAP1|yes-associated protein 2|yes-associated protein YAP65 homolog|yorkie homolog 20141222 9606 10419 PRMT5 - HRMT1L5|IBP72|JBP1|SKB1|SKB1Hs MIM:604045|HGNC:HGNC:10894|Ensembl:ENSG00000100462|HPRD:04955|Vega:OTTHUMG00000028709 14 14q11.2 protein arginine methyltransferase 5 protein-coding PRMT5 protein arginine methyltransferase 5 O 72 kDa ICln-binding protein|HMT1 hnRNP methyltransferase-like 5|SKB1 homolog|histone-arginine N-methyltransferase PRMT5|jak-binding protein 1|protein arginine N-methyltransferase 5|shk1 kinase-binding protein 1 homolog 20141222 9606 10423 CDIPT - PIS|PIS1 MIM:605893|HGNC:HGNC:1769|Ensembl:ENSG00000103502|HPRD:12063|Vega:OTTHUMG00000177144 16 16p11.2 CDP-diacylglycerol--inositol 3-phosphatidyltransferase protein-coding CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase O PI synthase|PtdIns synthase|phosphatidylinositol synthase 20141207 9606 10427 SEC24B - SEC24 MIM:607184|HGNC:HGNC:10704|Ensembl:ENSG00000138802|HPRD:06216|Vega:OTTHUMG00000161372 4 4q25 SEC24 family member B protein-coding SEC24B SEC24 family member B O SEC24 related gene family, member B|protein transport protein Sec24B|secretory protein 24 20141207 9606 10434 LYPLA1 - APT-1|APT1|LPL-I|LPL1|hAPT1 MIM:605599|HGNC:HGNC:6737|Ensembl:ENSG00000120992|HPRD:07063|Vega:OTTHUMG00000164313 8 8q11.23 lysophospholipase I protein-coding LYPLA1 lysophospholipase I O acyl-protein thioesterase 1|lysoPLA I|lysophospholipid-specific lysophospholipase 20141207 9606 10440 TIMM17A - TIM17|TIM17A MIM:605057|HGNC:HGNC:17315|Ensembl:ENSG00000134375|HPRD:05449|Vega:OTTHUMG00000035806 1 1q32.1 translocase of inner mitochondrial membrane 17 homolog A (yeast) protein-coding TIMM17A translocase of inner mitochondrial membrane 17 homolog A (yeast) O inner membrane preprotein translocase Tim17a|mitochondrial import inner membrane translocase subunit Tim17-A|mitochondrial inner membrane translocase|preprotein translocase 20141207 9606 10449 ACAA2 - DSAEC MIM:604770|HGNC:HGNC:83|HPRD:10380 18 18q21.1 acetyl-CoA acyltransferase 2 protein-coding ACAA2 acetyl-CoA acyltransferase 2 O 3-ketoacyl-CoA thiolase, mitochondrial|T1|acetyl-Coenzyme A acyltransferase 2|beta ketothiolase|beta-ketothiolase|mitochondrial 3-oxoacyl-CoA thiolase|mitochondrial 3-oxoacyl-Coenzyme A thiolase 20141207 9606 10452 TOMM40 - C19orf1|D19S1177E|PER-EC1|PEREC1|TOM40 MIM:608061|HGNC:HGNC:18001|Ensembl:ENSG00000130204|HPRD:16274|Vega:OTTHUMG00000180842 19 19q13 translocase of outer mitochondrial membrane 40 homolog (yeast) protein-coding TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) O mitochondrial import receptor subunit TOM40 homolog|mitochondrial outer membrane protein|p38.5|protein Haymaker|translocase of outer membrane 40 kDa subunit homolog 20141207 9606 10455 ECI2 RP5-1013A10.1 ACBD2|DRS-1|DRS1|HCA88|PECI|dJ1013A10.3 MIM:608024|HGNC:HGNC:14601|Ensembl:ENSG00000198721|HPRD:16269|Vega:OTTHUMG00000014158 6 6p24.3 enoyl-CoA delta isomerase 2 protein-coding ECI2 enoyl-CoA delta isomerase 2 O D3,D2-enoyl-CoA isomerase|DBI-related protein 1|acyl-Coenzyme A binding domain containing 2|delta(3),delta(2)-enoyl-CoA isomerase|diazepam-binding inhibitor-related protein 1|dodecenoyl-CoA isomerase|enoyl-CoA delta isomerase 2, mitochondrial|hepatocellular carcinoma-associated antigen 88|peroxisomal 3,2-trans-enoyl-CoA isomerase|peroxisomal D3,D2-enoyl-CoA isomerase|renal carcinoma antigen NY-REN-1 20141211 9606 10469 TIMM44 - TIM44 MIM:605058|HGNC:HGNC:17316|Ensembl:ENSG00000104980|HPRD:05450|Vega:OTTHUMG00000182478 19 19p13.2 translocase of inner mitochondrial membrane 44 homolog (yeast) protein-coding TIMM44 translocase of inner mitochondrial membrane 44 homolog (yeast) O mitochondrial import inner membrane translocase subunit TIM44|mitochondrial inner membrane translocase 20141207 9606 10471 PFDN6 DADB-159G18.5 H2-KE2|HKE2|KE-2|PFD6 MIM:605660|HGNC:HGNC:4926|Ensembl:ENSG00000204220|HPRD:16135|Vega:OTTHUMG00000031247 6 6p21.3 prefoldin subunit 6 protein-coding PFDN6 prefoldin subunit 6 O HLA class II region expressed gene KE2|KE2 protein 20141207 9606 10478 SLC25A17 RP3-362J20.2 PMP34 MIM:606795|HGNC:HGNC:10987|Ensembl:ENSG00000100372|HPRD:08425|Vega:OTTHUMG00000151139 22 22q13.2 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 protein-coding SLC25A17 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 O peroxisomal membrane protein PMP34|solute carrier family 25 member 17 20141207 9606 10484 SEC23A - CLSD MIM:610511|HGNC:HGNC:10701|Ensembl:ENSG00000100934|HPRD:06714|Vega:OTTHUMG00000028812 14 14q21.1 Sec23 homolog A (S. cerevisiae) protein-coding SEC23A Sec23 homolog A (S. cerevisiae) O SEC23-related protein A|protein transport protein Sec23A 20141207 9606 10499 NCOA2 - GRIP1|KAT13C|NCoA-2|SRC2|TIF2|bHLHe75 MIM:601993|HGNC:HGNC:7669|Ensembl:ENSG00000140396|HPRD:09066|Vega:OTTHUMG00000164671 8 8q13.3 nuclear receptor coactivator 2 protein-coding NCOA2 nuclear receptor coactivator 2 O class E basic helix-loop-helix protein 75|glucocorticoid receptor-interacting protein-1|hTIF2|transcriptional intermediary factor 2 20141207 9606 10528 NOP56 RP4-686C3.1 NOL5A|SCA36 MIM:614154|HGNC:HGNC:15911|Ensembl:ENSG00000101361|HPRD:10119|Vega:OTTHUMG00000031703 20 20p13 NOP56 ribonucleoprotein protein-coding NOP56 NOP56 ribonucleoprotein O NOP56 ribonucleoprotein homolog|nucleolar protein 56|nucleolar protein 5A (56kDa with KKE/D repeat) 20141207 9606 10554 AGPAT1 DAAP-218M18.8 1-AGPAT1|G15|LPAAT-alpha|LPAATA MIM:603099|HGNC:HGNC:324|Ensembl:ENSG00000204310|HPRD:04372|Vega:OTTHUMG00000031210 6 6p21.3 1-acylglycerol-3-phosphate O-acyltransferase 1 protein-coding AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 O 1-AGP acyltransferase 1|1-AGPAT 1|1-acyl-sn-glycerol-3-phosphate acyltransferase alpha|1-acylglycerol-3-phosphate O-acyltransferase 1 (acetoacetly Coenzyme A thiolase)|1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)|lysophosphatidic acid acyltransferase alpha|lysophospholipid acyltransferase 20141207 9606 10555 AGPAT2 - 1-AGPAT2|BSCL|BSCL1|LPAAB|LPAAT-beta MIM:603100|HGNC:HGNC:325|Ensembl:ENSG00000169692|HPRD:04373|Vega:OTTHUMG00000020936 9 9q34.3 1-acylglycerol-3-phosphate O-acyltransferase 2 protein-coding AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 O 1-AGP acyltransferase 2|1-AGPAT 2|1-acyl-sn-glycerol-3-phosphate acyltransferase beta|1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)|lysophosphatidic acid acyltransferase beta|lysophosphatidic acid acyltransferase-beta 20141219 9606 10558 SPTLC1 RP11-118F2.1 HSAN1|HSN1|LBC1|LCB1|SPT1|SPTI MIM:605712|HGNC:HGNC:11277|Ensembl:ENSG00000090054|HPRD:05754|Vega:OTTHUMG00000021047 9 9q22.2 serine palmitoyltransferase, long chain base subunit 1 protein-coding SPTLC1 serine palmitoyltransferase, long chain base subunit 1 O LCB 1|SPT 1|long chain base biosynthesis protein 1|serine C-palmitoyltransferase|serine palmitoyltransferase 1|serine-palmitoyl-CoA transferase 1 20141219 9606 10560 SLC19A2 RP1-206D15.4 TC1|THMD1|THT1|THTR1|TRMA MIM:603941|HGNC:HGNC:10938|Ensembl:ENSG00000117479|HPRD:04897|Vega:OTTHUMG00000035452 1 1q23.3 solute carrier family 19 (thiamine transporter), member 2 protein-coding SLC19A2 solute carrier family 19 (thiamine transporter), member 2 O high affinity thiamine transporter|reduced folate carrier protein (RFC) like|solute carrier family 19 member 2|thTr-1|thiamine transporter 1 20141222 9606 10564 ARFGEF2 - BIG2|PVNH2|dJ1164I10.1 MIM:605371|HGNC:HGNC:15853|Ensembl:ENSG00000124198|HPRD:09250|Vega:OTTHUMG00000032687 20 20q13.13 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) protein-coding ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) O brefeldin A-inhibited GEP 2|brefeldin A-inhibited guanine nucleotide-exchange protein 2 20141207 9606 10574 CCT7 - CCTETA|CCTH|NIP7-1|TCP1ETA MIM:605140|HGNC:HGNC:1622|Ensembl:ENSG00000135624|HPRD:06896|Vega:OTTHUMG00000152765 2 2p13.2 chaperonin containing TCP1, subunit 7 (eta) protein-coding CCT7 chaperonin containing TCP1, subunit 7 (eta) O CCT-eta|HIV-1 Nef interacting protein|HIV-1 Nef-interacting protein|T-complex protein 1 subunit eta|TCP-1-eta|chaperonin containing t-complex polypeptide 1, eta subunit 20141207 9606 10575 CCT4 - CCT-DELTA|Cctd|SRB MIM:605142|HGNC:HGNC:1617|Ensembl:ENSG00000115484|HPRD:05506|Vega:OTTHUMG00000152166 2 2p15 chaperonin containing TCP1, subunit 4 (delta) protein-coding CCT4 chaperonin containing TCP1, subunit 4 (delta) O T-complex protein 1 subunit delta|TCP-1-delta|chaperonin containing t-complex polypeptide 1, delta subunit|stimulator of TAR RNA-binding 20141207 9606 10576 CCT2 - 99D8.1|CCT-beta|CCTB|HEL-S-100n|PRO1633|TCP-1-beta MIM:605139|HGNC:HGNC:1615|Ensembl:ENSG00000166226|HPRD:06895|Vega:OTTHUMG00000169383 12 12q15 chaperonin containing TCP1, subunit 2 (beta) protein-coding CCT2 chaperonin containing TCP1, subunit 2 (beta) O T-complex protein 1 subunit beta|T-complex protein 1, beta subunit|chaperonin containing t-complex polypeptide 1, beta subunit|chaperonin containing t-complex polypeptide 1, subunit 2|epididymis secretory sperm binding protein Li 100n 20141207 9606 10587 TXNRD2 - SELZ|TR|TR-BETA|TR3|TRXR2 MIM:606448|HGNC:HGNC:18155|Ensembl:ENSG00000184470|HPRD:05921|HPRD:18519|Vega:OTTHUMG00000149975 22 22q11.21 thioredoxin reductase 2 protein-coding TXNRD2 thioredoxin reductase 2 O selenoprotein Z|thioredoxin reductase 2, mitochondrial|thioredoxin reductase 3|thioredoxin reductase TR3|thioredoxin reductase beta 20141207 9606 10599 SLCO1B1 - HBLRR|LST-1|LST1|OATP-C|OATP1B1|OATP2|OATPC|SLC21A6 MIM:604843|HGNC:HGNC:10959|Ensembl:ENSG00000134538|HPRD:09214|Vega:OTTHUMG00000169047 12 12p solute carrier organic anion transporter family, member 1B1 protein-coding SLCO1B1 solute carrier organic anion transporter family, member 1B1 O OATP-2|liver-specific organic anion transporter 1|sodium-independent organic anion-transporting polypeptide 2|solute carrier family 21 (organic anion transporter), member 6|solute carrier family 21 member 6|solute carrier organic anion transporter family member 1B1 20141219 9606 10605 PAIP1 - - MIM:605184|HGNC:HGNC:16945|Ensembl:ENSG00000172239|HPRD:05539|Vega:OTTHUMG00000096960 5 5p12 poly(A) binding protein interacting protein 1 protein-coding PAIP1 poly(A) binding protein interacting protein 1 O PABC1-interacting protein 1|PABP-interacting protein 1|PAIP-1|poly(A)-binding protein-interacting protein 1|polyadenylate binding protein-interacting protein 1|polyadenylate-binding protein-interacting protein 1 20141207 9606 10606 PAICS - ADE2|ADE2H1|AIRC|PAIS MIM:172439|HGNC:HGNC:8587|Ensembl:ENSG00000128050|HPRD:01401|Vega:OTTHUMG00000160957 4 4q12 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase protein-coding PAICS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase O AIR carboxylase|SAICAR synthetase|multifunctional protein ADE2|multifunctional protein ADE2H1 20141207 9606 10610 ST6GALNAC2 - SAITL1|SIAT7|SIAT7B|SIATL1|ST6GalNAII|STHM MIM:610137|HGNC:HGNC:10867|Ensembl:ENSG00000070731|HPRD:10231|Vega:OTTHUMG00000180301 17 17q25.1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 protein-coding ST6GALNAC2 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 O (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B|(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase|SIAT7-B|ST6GalNAc II|ST6GalNAcII|alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2|galNAc alpha-2,6-sialyltransferase II|sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide B|sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) B|sialyltransferase 7B|sialyltransferase-like 1 20141207 9606 10621 POLR3F - RPC39|RPC6 HGNC:HGNC:15763|Ensembl:ENSG00000132664|HPRD:15156|Vega:OTTHUMG00000031971 20 20p11.23 polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa protein-coding POLR3F polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa O DNA-directed RNA polymerase III subunit RPC6|RNA polymerase III C39 subunit|RNA polymerase III subunit C6 20141207 9606 10622 POLR3G - RPC32|RPC7 HGNC:HGNC:30075|Ensembl:ENSG00000113356|HPRD:17881|Vega:OTTHUMG00000162809 5 5q14.3 polymerase (RNA) III (DNA directed) polypeptide G (32kD) protein-coding POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD) O DNA-directed RNA polymerase III 32 kDa polypeptide|DNA-directed RNA polymerase III subunit G|DNA-directed RNA polymerase III subunit RPC7|RNA polymerase III 32 kDa subunit|RNA polymerase III subunit C7 20141207 9606 10623 POLR3C - RPC3|RPC62 HGNC:HGNC:30076|Ensembl:ENSG00000186141|HPRD:17880|Vega:OTTHUMG00000013753 1 1q21.1 polymerase (RNA) III (DNA directed) polypeptide C (62kD) protein-coding POLR3C polymerase (RNA) III (DNA directed) polypeptide C (62kD) O DNA-directed III 62 kDa polypeptide|DNA-directed RNA polymerase III subunit C|DNA-directed RNA polymerase III subunit RPC3|RNA polymerase III 62 kDa subunit|RNA polymerase III subunit C3 20141207 9606 10651 MTX2 - - MIM:608555|HGNC:HGNC:7506|Ensembl:ENSG00000128654|HPRD:09777|Vega:OTTHUMG00000132514 2 2q31.1 metaxin 2 protein-coding MTX2 metaxin 2 O metaxin-2|mitochondrial outer membrane import complex protein 2 20141207 9606 10654 PMVK RP11-307C12.5 HUMPMKI|PMK|PMKA|PMKASE MIM:607622|HGNC:HGNC:9141|Ensembl:ENSG00000163344|HPRD:07404|Vega:OTTHUMG00000037415 1 1q22 phosphomevalonate kinase protein-coding PMVK phosphomevalonate kinase O hPMK 20141207 9606 10678 B3GNT2 - B3GN-T2|B3GNT|B3GNT-2|B3GNT1|BETA3GNT|BGNT2|BGnT-2 MIM:605581|HGNC:HGNC:15629|Ensembl:ENSG00000170340|HPRD:09279|Vega:OTTHUMG00000129444 2 2p15 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 protein-coding B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 O UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1|beta-1,3-Gn-T1|beta-1,3-Gn-T2|beta-1,3-N-acetylglucosaminyltransferase bGnT-1|beta-1,3-N-acetylglucosaminyltransferase bGnT-2|beta3Gn-T1|beta3Gn-T2 20141207 9606 10681 GNB5 - GB5 MIM:604447|HGNC:HGNC:4401|Ensembl:ENSG00000069966|HPRD:09191|Vega:OTTHUMG00000131892 15 15q21.2 guanine nucleotide binding protein (G protein), beta 5 protein-coding GNB5 guanine nucleotide binding protein (G protein), beta 5 O G protein, beta subunit 5L|G protein, beta-5 subunit|gbeta5|guanine nucleotide-binding protein subunit beta-5|guanine nucleotide-binding protein, beta subunit 5L|transducin beta chain 5 20141207 9606 10682 EBP - CDPX2|CHO2|CPX|CPXD MIM:300205|HGNC:HGNC:3133|HPRD:02192 X Xp11.23-p11.22 emopamil binding protein (sterol isomerase) protein-coding EBP emopamil binding protein (sterol isomerase) O 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase|3-beta-hydroxysteroid-delta-8,delta-7-isomerase|Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)|D8-D7 sterol isomerase|cholestenol Delta-isomerase|delta(8)-Delta(7) sterol isomerase|emopamil-binding protein (sterol isomerase)|sterol 8-isomerase 20141222 9606 10694 CCT8 - C21orf112|Cctq|D21S246|PRED71 HGNC:HGNC:1623|Ensembl:ENSG00000156261|HPRD:10816|Vega:OTTHUMG00000044595 21 21q22.11 chaperonin containing TCP1, subunit 8 (theta) protein-coding CCT8 chaperonin containing TCP1, subunit 8 (theta) O CCT-theta|T-complex protein 1 subunit theta|TCP-1-theta|renal carcinoma antigen NY-REN-15 20141207 9606 10714 POLD3 - P66|P68|PPP1R128 MIM:611415|HGNC:HGNC:20932|Ensembl:ENSG00000077514|HPRD:11446|Vega:OTTHUMG00000165621 11 11q14 polymerase (DNA-directed), delta 3, accessory subunit protein-coding POLD3 polymerase (DNA-directed), delta 3, accessory subunit O DNA polymerase delta subunit 3|DNA polymerase delta subunit p66|Pol delta C subunit (p66)|protein phosphatase 1, regulatory subunit 128 20141207 9606 10720 UGT2B11 - - MIM:603064|HGNC:HGNC:12545|Ensembl:ENSG00000213759|HPRD:04345|Vega:OTTHUMG00000129395 4 4q13.2 UDP glucuronosyltransferase 2 family, polypeptide B11 protein-coding UGT2B11 UDP glucuronosyltransferase 2 family, polypeptide B11 O UDP glycosyltransferase 2 family protein|UDP glycosyltransferase 2 family, polypeptide B11|UDP-glucuronosyltransferase 2B11|UDPGT 2B11 20141207 9606 10762 NUP50 CTA-268H5.7 NPAP60|NPAP60L MIM:604646|HGNC:HGNC:8065|Ensembl:ENSG00000093000|HPRD:05226|Vega:OTTHUMG00000151265 22 22q13.31 nucleoporin 50kDa protein-coding NUP50 nucleoporin 50kDa O 50 kDa nucleoporin|nuclear pore complex protein Nup50|nuclear pore-associated protein 60L|nucleoporin 50kD|nucleoporin Nup50 20141207 9606 10768 AHCYL1 - DCAL|IRBIT|PPP1R78|PRO0233|XPVKONA MIM:607826|HGNC:HGNC:344|Ensembl:ENSG00000168710|HPRD:07613|Vega:OTTHUMG00000011652 1 1p13.2 adenosylhomocysteinase-like 1 protein-coding AHCYL1 adenosylhomocysteinase-like 1 O DC-expressed AHCY-like molecule|S-adenosyl homocysteine hydrolase homolog|S-adenosyl-L-homocysteine hydrolase 2|S-adenosylhomocysteine hydrolase-like protein 1|adoHcyase 2|dendritic cell expressed AHCY-like protein|inositol 1,4,5-trisphosphate receptor-binding protein|protein phosphatase 1, regulatory subunit 78|putative adenosylhomocysteinase 2 20141207 9606 10797 MTHFD2 - NMDMC MIM:604887|HGNC:HGNC:7434|HPRD:05351 2 2p13.1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase protein-coding MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase O NAD-dependent methylene tetrahydrofolate dehydrogenase cyclohydrolase|bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial 20141207 9606 10825 NEU3 - SIAL3 MIM:604617|HGNC:HGNC:7760|HPRD:05215 11 11q13.5 sialidase 3 (membrane sialidase) protein-coding NEU3 sialidase 3 (membrane sialidase) O N-acetyl-alpha-neuraminidase 3|ganglioside sialidase|membrane sialidase|neuraminidase 3|sialidase-3 20141207 9606 10841 FTCD - LCHC1 MIM:606806|HGNC:HGNC:3974|Ensembl:ENSG00000160282|HPRD:08430|Vega:OTTHUMG00000090488 21 21q22.3 formimidoyltransferase cyclodeaminase protein-coding FTCD formimidoyltransferase cyclodeaminase O formimidoyltransferase-cyclodeaminase|formiminotransferase cyclodeaminase|formiminotransferase-cyclodeaminase 20141207 9606 10846 PDE10A - HSPDE10A MIM:610652|HGNC:HGNC:8772|Ensembl:ENSG00000112541|HPRD:17828|Vega:OTTHUMG00000015986 6 6q26 phosphodiesterase 10A protein-coding PDE10A phosphodiesterase 10A O cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A|dJ416F21.1 (phosphodiesterase 10A)|phosphodiesterase 10A1 (PDE10A1) 20141218 9606 10855 HPSE - HPA|HPA1|HPR1|HPSE1|HSE1 MIM:604724|HGNC:HGNC:5164|Ensembl:ENSG00000173083|HPRD:05286|Vega:OTTHUMG00000130425 4 4q21.3 heparanase protein-coding HPSE heparanase O endo-glucoronidase|heparanase-1 20141207 9606 10873 ME3 - NADP-ME MIM:604626|HGNC:HGNC:6985|Ensembl:ENSG00000151376|HPRD:06862|Vega:OTTHUMG00000167217 11 11cen-q22.3 malic enzyme 3, NADP(+)-dependent, mitochondrial protein-coding ME3 malic enzyme 3, NADP(+)-dependent, mitochondrial O NADP-dependent malic enzyme, mitochondrial|malate dehydrogenase|malic enzyme, NADP+-dependent, mitochondrial|mitochondrial NADP(+)-dependent malic enzyme 3|pyruvic-malic carboxylase 20141207 9606 10891 PPARGC1A - LEM6|PGC-1(alpha)|PGC-1v|PGC1|PGC1A|PPARGC1 MIM:604517|HGNC:HGNC:9237|Ensembl:ENSG00000109819|HPRD:05155|Vega:OTTHUMG00000097747 4 4p15.1 peroxisome proliferator-activated receptor gamma, coactivator 1 alpha protein-coding PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha O L-PGC-1alpha|PGC-1-alpha|PPAR gamma coactivator variant form|PPARGC-1-alpha|ligand effect modulator-6|peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4|peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4-3ext|peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B4-8a|peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B5|peroxisome proliferator-activated receptor gamma coactivator 1 alpha transcript variant B5-NT|peroxisome proliferator-activated receptor gamma coactivator 1-alpha 20141222 9606 10894 LYVE1 UNQ230/PRO263 CRSBP-1|HAR|LYVE-1|XLKD1 MIM:605702|HGNC:HGNC:14687|HPRD:05753 11 11p15 lymphatic vessel endothelial hyaluronan receptor 1 protein-coding LYVE1 lymphatic vessel endothelial hyaluronan receptor 1 O cell surface retention sequence binding protein-1|cell surface retention sequence-binding protein 1|extracellular link domain containing 1|extracellular link domain-containing 1|extracellular link domain-containing protein 1|hyaluronic acid receptor|lymphatic vessel endothelial hyaluronic acid receptor 1 20141207 9606 10901 DHRS4 UNQ851/PRO1800 CR|NRDR|PHCR|PSCD|SCAD-SRL|SDR-SRL|SDR25C1|SDR25C2 MIM:611596|HGNC:HGNC:16985|Ensembl:ENSG00000157326|HPRD:07484|Vega:OTTHUMG00000028777 14 14q11.2 dehydrogenase/reductase (SDR family) member 4 protein-coding DHRS4 dehydrogenase/reductase (SDR family) member 4 O NADPH-dependent carbonyl reductase/NADP-retinol dehydrogenase|NADPH-dependent retinol dehydrogenase/reductase|dehydrogenase/reductase (SDR family) member 4 like 2A|dehydrogenase/reductase SDR family member 4|peroxisomal short-chain alcohol dehydrogenase|short chain dehydrogenase/reductase family 25C, member 1|short chain dehydrogenase/reductase family 25C, member 2|short-chain dehydrogenase/reductase family member 4 20141207 9606 10905 MAN1A2 RP4-675C20.1 MAN1B MIM:604345|HGNC:HGNC:6822|Ensembl:ENSG00000198162|HPRD:05067|Vega:OTTHUMG00000012149 1 1p13 mannosidase, alpha, class 1A, member 2 protein-coding MAN1A2 mannosidase, alpha, class 1A, member 2 O alpha-1,2-mannosidase IB|alpha1,2-mannosidase|mannosyl-oligosaccharide 1,2-alpha-mannosidase IB|processing alpha-1,2-mannosidase IB 20141207 9606 10921 RNPS1 - E5.1 MIM:606447|HGNC:HGNC:10080|Ensembl:ENSG00000205937|HPRD:07341|Vega:OTTHUMG00000128828 16 16p13.3 RNA binding protein S1, serine-rich domain protein-coding RNPS1 RNA binding protein S1, serine-rich domain O RNA-binding protein S1, serine-rich domain|RNA-binding protein with serine-rich domain 1|SR protein|SR-related protein LDC2 20141207 9606 10941 UGT2A1 - UDPGT2A1 MIM:604716|HGNC:HGNC:12542|Ensembl:ENSG00000173610|HPRD:05279|Vega:OTTHUMG00000184942 4 4q13 UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus protein-coding UGT2A1 UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus O UDP glycosyltransferase 2 family, polypeptide A1|UDP-glucuronosyltransferase 2A1|uridine diphosphate glycosyltransferase 2 family, member A1 20141207 9606 10952 SEC61B - - MIM:609214|HGNC:HGNC:16993|Ensembl:ENSG00000106803|HPRD:06715|Vega:OTTHUMG00000020354 9 9q22.32-q31.3 Sec61 beta subunit protein-coding SEC61B Sec61 beta subunit O Sec61 complex, beta subunit|protein translocation complex beta|protein transport protein SEC61 beta subunit|protein transport protein Sec61 subunit beta 20141207 9606 10993 SDS - SDH MIM:182128|HGNC:HGNC:10691|Ensembl:ENSG00000135094|HPRD:01633|Vega:OTTHUMG00000169554 12 12q24.13 serine dehydratase protein-coding SDS serine dehydratase O L-serine ammonia-lyase|L-serine deaminase|L-serine dehydratase|L-serine dehydratase/L-threonine deaminase|L-threonine dehydratase|TDH 20141207 9606 10998 SLC27A5 - ACSB|ACSVL6|BACS|BAL|FACVL3|FATP-5|FATP5|VLACSR|VLCS-H2|VLCSH2 MIM:603314|HGNC:HGNC:10999|Ensembl:ENSG00000083807|HPRD:04499|Vega:OTTHUMG00000183543 19 19q13.43 solute carrier family 27 (fatty acid transporter), member 5 protein-coding SLC27A5 solute carrier family 27 (fatty acid transporter), member 5 O BA-CoA ligase|VLACS-related|bile acid-CoA ligase|bile acyl-CoA synthetase|cholate--CoA ligase|fatty acid transport protein 5|fatty-acid-Coenzyme A ligase, very long-chain 3|solute carrier family 27 member 5|very long-chain acyl-CoA synthetase homolog 2|very long-chain acyl-CoA synthetase-related protein 20141207 9606 11001 SLC27A2 - ACSVL1|FACVL1|FATP2|HsT17226|VLACS|VLCS|hFACVL1 MIM:603247|HGNC:HGNC:10996|Ensembl:ENSG00000140284|HPRD:11935|Vega:OTTHUMG00000131643 15 15q21.2 solute carrier family 27 (fatty acid transporter), member 2 protein-coding SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 O FATP-2|THCA-CoA ligase|fatty acid transport protein 2|fatty-acid-coenzyme A ligase, very long-chain 1|long-chain-fatty-acid--CoA ligase|solute carrier family 27 member 2|very long-chain acyl-CoA synthetase|very long-chain fatty-acid-coenzyme A ligase 1|very long-chain-fatty-acid-CoA ligase|very-long-chain acyl-CoA synthetase 20141211 9606 11010 GLIPR1 - CRISP7|GLIPR|RTVP1 MIM:602692|HGNC:HGNC:17001|HPRD:04071 12 12q21.2 GLI pathogenesis-related 1 protein-coding GLIPR1 GLI pathogenesis-related 1 O GLI pathogenesis-related 1 (glioma)|gliPR 1|glioma pathogenesis-related protein 1|protein RTVP-1|related to testis-specific, vespid, and pathogenesis proteins 1|testes-specific vespid and pathogenesis protein 1 20141207 9606 11069 RAPGEF4 - 2|CAMP-GEFII|CGEF2|EPAC|EPAC 2|EPAC2|Nbla00496 MIM:606058|HGNC:HGNC:16626|Ensembl:ENSG00000091428|HPRD:06929|Vega:OTTHUMG00000133677 2 2q31-q32 Rap guanine nucleotide exchange factor (GEF) 4 protein-coding RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 O RAP guanine-nucleotide-exchange factor (GEF) 4|cAMP-regulated guanine nucleotide exchange factor II|exchange factor directly activated by cAMP 2|exchange protein directly activated by cAMP 2|putative protein product of Nbla00496|rap guanine nucleotide exchange factor 4 20141207 9606 11081 KERA - CNA2|KTN|SLRR2B MIM:603288|HGNC:HGNC:6309|Ensembl:ENSG00000139330|HPRD:04477|Vega:OTTHUMG00000170073 12 12q22 keratocan protein-coding KERA keratocan O keratan sulfate proteoglycan keratocan 20141207 9606 11097 NUPL2 - CG1|NLP-1|NLP_1|hCG1 HGNC:HGNC:17010|Ensembl:ENSG00000136243|HPRD:14855|Vega:OTTHUMG00000096955 7 7p15 nucleoporin like 2 protein-coding NUPL2 nucleoporin like 2 O H_RG271G13.9|NUP42 homolog|nucleoporin hCG1|nucleoporin-like protein 1|nucleoporin-like protein 2 20141207 9606 11112 HIBADH - NS5ATP1 MIM:608475|HGNC:HGNC:4907|Ensembl:ENSG00000106049|HPRD:12238|Vega:OTTHUMG00000097035 7 7p15.2 3-hydroxyisobutyrate dehydrogenase protein-coding HIBADH 3-hydroxyisobutyrate dehydrogenase O 3'-hydroxyisobutyrate dehydrogenase|3-hydroxyisobutyrate dehydrogenase, mitochondrial 20141207 9606 11128 POLR3A - ADDH|HLD7|RPC1|RPC155|hRPC155 MIM:614258|HGNC:HGNC:30074|Ensembl:ENSG00000148606|HPRD:17879|Vega:OTTHUMG00000018550 10 10q22-q23 polymerase (RNA) III (DNA directed) polypeptide A, 155kDa protein-coding POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa O DNA-directed RNA polymerase III largest subunit|DNA-directed RNA polymerase III subunit A|DNA-directed RNA polymerase III subunit RPC1|RNA polymerase III 155 kDa subunit|RNA polymerase III subunit C1|RNA polymerase III subunit C160|RNA polymerase III subunit RPC155-D 20141219 9606 11145 PLA2G16 - AdPLA|H-REV107-1|HRASLS3|HREV107|HREV107-1|HREV107-3|HRSL3 MIM:613867|HGNC:HGNC:17825|Ensembl:ENSG00000176485|HPRD:13671 11 11q12.3 phospholipase A2, group XVI protein-coding PLA2G16 phospholipase A2, group XVI O Ca-independent phospholipase A1/2|H-rev 107 protein homolog|HRAS-like suppressor 1|HRAS-like suppressor 3|adipose-specific PLA2|adipose-specific phospholipase A2|group XVI phospholipase A1/A2|group XVI phospholipase A2|renal carcinoma antigen NY-REN-65 20141207 9606 11157 LSM6 - YDR378C MIM:607286|HGNC:HGNC:17017|Ensembl:ENSG00000164167|HPRD:06286|Vega:OTTHUMG00000161440 4 4q31.22 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) protein-coding LSM6 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) O Sm protein F|U6 snRNA-associated Sm-like protein LSm6 20141207 9606 11164 NUDT5 HSPC115 YSA1|YSA1H|YSAH1|hYSAH1 MIM:609230|HGNC:HGNC:8052|Ensembl:ENSG00000165609|HPRD:14851 10 10p14 nudix (nucleoside diphosphate linked moiety X)-type motif 5 protein-coding NUDT5 nudix (nucleoside diphosphate linked moiety X)-type motif 5 O 8-oxo-dGDP phosphatase|ADP-sugar pyrophosphatase 20141207 9606 11181 TREH - TRE|TREA MIM:275360|HGNC:HGNC:12266|Ensembl:ENSG00000118094|HPRD:02038|Vega:OTTHUMG00000166409 11 11q23.3 trehalase (brush-border membrane glycoprotein) protein-coding TREH trehalase (brush-border membrane glycoprotein) O alpha,alpha-trehalose glucohydrolase|trehalase 20141207 9606 11185 INMT - TEMT MIM:604854|HGNC:HGNC:6069|Ensembl:ENSG00000241644|HPRD:06890|Vega:OTTHUMG00000167163 7 7p14.3 indolethylamine N-methyltransferase protein-coding INMT indolethylamine N-methyltransferase O amine N-methyltransferase|aromatic alkylamine N-methyltransferase|arylamine N-methyltransferase|indolamine N-methyltransferase|nicotine N-methyltransferase|thioether S-methyltransferase 20141207 9606 11218 DDX20 - DP103|GEMIN3 MIM:606168|HGNC:HGNC:2743|Ensembl:ENSG00000064703|HPRD:05859|Vega:OTTHUMG00000011956 1 1p21.1-p13.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 protein-coding DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 O DEAD box protein 20|DEAD box protein DP 103|DEAD-box protein DP103|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD|SMN-interacting protein|component of gems 3|gemin-3|probable ATP-dependent RNA helicase DDX20 20141207 9606 11224 RPL35 RP11-175D17.6 L35 HGNC:HGNC:10344|Ensembl:ENSG00000136942|HPRD:10200|Vega:OTTHUMG00000020659 9 9q34.1 ribosomal protein L35 protein-coding RPL35 ribosomal protein L35 O 60S ribosomal protein L35 20141207 9606 11226 GALNT6 - GALNAC-T6|GalNAcT6 MIM:605148|HGNC:HGNC:4128|Ensembl:ENSG00000139629|HPRD:05512|Vega:OTTHUMG00000185181 12 12q13 polypeptide N-acetylgalactosaminyltransferase 6 protein-coding GALNT6 polypeptide N-acetylgalactosaminyltransferase 6 O GalNAc transferase 6|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 6|UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 6|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)|polypeptide GalNAc transferase 6|pp-GaNTase 6|protein-UDP acetylgalactosaminyltransferase 6 20141207 9606 11227 GALNT5 - GALNAC-T5|GALNACT5 MIM:615129|HGNC:HGNC:4127|HPRD:09970 2 2q24.1 polypeptide N-acetylgalactosaminyltransferase 5 protein-coding GALNT5 polypeptide N-acetylgalactosaminyltransferase 5 O UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)|polypeptide GalNAc transferase 5|pp-GaNTase 5|protein-UDP acetylgalactosaminyltransferase 5 20141207 9606 11238 CA5B - CA-VB MIM:300230|HGNC:HGNC:1378|Ensembl:ENSG00000169239|HPRD:02207|Vega:OTTHUMG00000021183 X Xp21.1 carbonic anhydrase VB, mitochondrial protein-coding CA5B carbonic anhydrase VB, mitochondrial O carbonate dehydratase VB|carbonic anhydrase 5B, mitochondrial|carbonic dehydratase 20141207 9606 11253 MAN1B1 RP11-350O14.2 ERMAN1|MANA-ER|MRT15 MIM:604346|HGNC:HGNC:6823|Ensembl:ENSG00000177239|HPRD:05068|Vega:OTTHUMG00000020978 9 9q34 mannosidase, alpha, class 1B, member 1 protein-coding MAN1B1 mannosidase, alpha, class 1B, member 1 O ER alpha 1,2-mannosidase|Man9GlcNAc2-specific processing alpha-mannosidase|endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase|endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 20141219 9606 11282 MGAT4B UNQ906/PRO1927 GNT-IV|GNT-IVB MIM:604561|HGNC:HGNC:7048|Ensembl:ENSG00000161013|HPRD:05190|Vega:OTTHUMG00000130912 5 5q35 mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B protein-coding MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B O N-acetylglucosaminyltransferase IVb|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVb|UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV|UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVb|alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B|alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase|aminyltransferase|glcNAc-T IVb|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B 20141207 9606 11285 B4GALT7 UNQ748/PRO1478 EDSP1|XGALT1|XGPT1 MIM:604327|HGNC:HGNC:930|Ensembl:ENSG00000027847|HPRD:05060|Vega:OTTHUMG00000130851 5 5q35.2-q35.3 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 protein-coding B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 O UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7|UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7|beta-1,4-GalTase 7|beta-1,4-galactosyltransferase 7|beta-1,4-galactosyltransferase VII|beta4Gal-T7|beta4GalT-VII|galactosyltransferase I|proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I 20141215 9606 11313 LYPLA2 RP5-886K2.5 APT-2|DJ886K2.4 HGNC:HGNC:6738|Ensembl:ENSG00000011009|HPRD:07127|Vega:OTTHUMG00000002961 1 1p36.11 lysophospholipase II protein-coding LYPLA2 lysophospholipase II O LPL-II|acyl-protein thioesterase 2|lysoPLA II 20141207 9606 11320 MGAT4A - GNT-IV|GNT-IVA|GnT-4a MIM:604623|HGNC:HGNC:7047|Ensembl:ENSG00000071073|HPRD:06860|Vega:OTTHUMG00000130563 2 2q12 mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A protein-coding MGAT4A mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A O N-acetylglucosaminyltransferase IVa|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVa|UDP-GlcNAc:a-1,3-D-mannoside b-1,4-acetylglucosaminyltransferase IV|UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVa|UDP-N-acetylglucosamine:alpha1,3-d-mannoside beta1,4-N-acetylglucosaminyltransferase|alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A|alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase|glcNAc-T IVa|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A 20141207 9606 11328 FKBP9 tcag7.1121 FKBP60|FKBP63|PPIase HGNC:HGNC:3725|Ensembl:ENSG00000122642|HPRD:06510|Vega:OTTHUMG00000097847 7 7p11.1 FK506 binding protein 9, 63 kDa protein-coding FKBP9 FK506 binding protein 9, 63 kDa O 63 kDa FK506-binding protein|63 kDa FKBP|FK506-binding protein 9|FKBP-63|FKBP-9|PPIase FKBP9|peptidyl-prolyl cis-trans isomerase FKBP9|rotamase 20141207 9606 11340 EXOSC8 RP11-421P11.3 CIP3|EAP2|OIP2|PCH1C|RRP43|Rrp43p|bA421P11.3|p9 MIM:606019|HGNC:HGNC:17035|Ensembl:ENSG00000120699|HPRD:09351|Vega:OTTHUMG00000016742 13 13q13.1 exosome component 8 protein-coding EXOSC8 exosome component 8 O CBP-interacting protein 3|OIP-2|Opa interacting protein 2|exosome complex component RRP43|exosome complex exonuclease RRP43|opa-interacting protein 2|ribosomal RNA-processing protein 43 20141207 9606 11343 MGLL - HU-K5|HUK5|MAGL|MGL MIM:609699|HGNC:HGNC:17038|Ensembl:ENSG00000074416|HPRD:17574|Vega:OTTHUMG00000159641 3 3q21.3 monoglyceride lipase protein-coding MGLL monoglyceride lipase O lysophospholipase homolog|monoacylglycerol lipase 20141207 9606 22794 CASC3 - BTZ|MLN51 MIM:606504|HGNC:HGNC:17040|Ensembl:ENSG00000108349|HPRD:16225|Vega:OTTHUMG00000133323 17 17q21.1 cancer susceptibility candidate 3 protein-coding CASC3 cancer susceptibility candidate 3 O MLN 51|barentsz|cancer susceptibility candidate gene 3 protein|metastatic lymph node 51|metastatic lymph node gene 51 protein|protein CASC3|protein barentsz 20141207 9606 22803 XRN2 RP11-227D2.1 - MIM:608851|HGNC:HGNC:12836|Ensembl:ENSG00000088930|HPRD:10309|Vega:OTTHUMG00000032025 20 20p11.2-p11.1 5'-3' exoribonuclease 2 protein-coding XRN2 5'-3' exoribonuclease 2 O DHP protein|Dhm1-like protein (mouse homolog) 20141207 9606 22845 DOLK UNQ2422/PRO4980 CDG1M|DK|DK1|SEC59|TMEM15 MIM:610746|HGNC:HGNC:23406|Ensembl:ENSG00000175283|HPRD:15525|Vega:OTTHUMG00000020765 9 9q34.11 dolichol kinase protein-coding DOLK dolichol kinase O SEC59 homolog|dolichol kinase 1|transmembrane protein 15 20141219 9606 22856 CHSY1 UNQ756/PRO1487 CHSY|CSS1|ChSy-1|TPBS MIM:608183|HGNC:HGNC:17198|Ensembl:ENSG00000131873|HPRD:10493|Vega:OTTHUMG00000149873 15 15q26.3 chondroitin sulfate synthase 1 protein-coding CHSY1 chondroitin sulfate synthase 1 O N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1|N-acetylgalactosaminyltransferase II|carbohydrate synthase 1|chondroitin glucuronyltransferase 1|chondroitin glucuronyltransferase II|chondroitin synthase 1|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1 20141207 9606 22872 SEC31A HSPC275 ABP125|ABP130|HSPC334|SEC31L1 MIM:610257|HGNC:HGNC:17052|Ensembl:ENSG00000138674|HPRD:15314|Vega:OTTHUMG00000130297 4 4q21.22 SEC31 homolog A (S. cerevisiae) protein-coding SEC31A SEC31 homolog A (S. cerevisiae) O SEC31-like protein 1|SEC31-related protein A|protein transport protein Sec31A|web1-like protein|yeast Sec31p homolog 20141222 9606 22894 DIS3 RP11-342J4.3 2810028N01Rik|EXOSC11|KIAA1008|RRP44|dis3p MIM:607533|HGNC:HGNC:20604|Ensembl:ENSG00000083520|HPRD:06338 13 13q22.1 DIS3 exosome endoribonuclease and 3'-5' exoribonuclease protein-coding DIS3 DIS3 exosome endoribonuclease and 3'-5' exoribonuclease O DIS3 mitotic control homolog|exosome complex exonuclease RRP44|exosome component 11|mitotic control protein dis3 homolog|ribosomal RNA-processing protein 44 20141207 9606 22901 ARSG UNQ839/PRO1777 - MIM:610008|HGNC:HGNC:24102|Ensembl:ENSG00000141337|HPRD:13826 17 17q24.2 arylsulfatase G protein-coding ARSG arylsulfatase G O ASG 20141222 9606 22908 SACM1L - SAC1 MIM:606569|HGNC:HGNC:17059|Ensembl:ENSG00000211456|HPRD:07587|Vega:OTTHUMG00000156653 3 3p21.3 SAC1 suppressor of actin mutations 1-like (yeast) protein-coding SACM1L SAC1 suppressor of actin mutations 1-like (yeast) O phosphatidylinositide phosphatase SAC1|suppressor of actin 1|suppressor of actin mutations 1-like protein 20141215 9606 22916 NCBP2 PIG55 CBC2|CBP20|NIP1 MIM:605133|HGNC:HGNC:7659|Ensembl:ENSG00000114503|HPRD:05503|Vega:OTTHUMG00000155520 3 3q29 nuclear cap binding protein subunit 2, 20kDa protein-coding NCBP2 nuclear cap binding protein subunit 2, 20kDa O 20 kDa nuclear cap-binding protein|NCBP 20 kDa subunit|NCBP interacting protein 1|NCBP-interacting protein 1|cell proliferation-inducing gene 55 protein|nuclear cap binding protein subunit 2, 20kD|nuclear cap-binding protein subunit 2 20141207 9606 22928 SEPHS2 - SPS2|SPS2b MIM:606218|HGNC:HGNC:19686|Ensembl:ENSG00000179918|HPRD:12096|Vega:OTTHUMG00000176988 16 16p11.2 selenophosphate synthetase 2 protein-coding SEPHS2 selenophosphate synthetase 2 O selenide, water dikinase 2|selenium donor protein 2|selenophosphate synthase 2 20141207 9606 22929 SEPHS1 RP11-24J20.2 SELD|SPS|SPS1 MIM:600902|HGNC:HGNC:19685|Ensembl:ENSG00000086475|HPRD:02944|Vega:OTTHUMG00000017696 10 10p14 selenophosphate synthetase 1 protein-coding SEPHS1 selenophosphate synthetase 1 O selenide, water dikinase 1|selenium donor protein 1|selenophosphate synthase 1|selenophosphate synthetase 1 +E9|selenophosphate synthetase 1 +E9a|selenophosphate synthetase 1 delta E2|selenophosphate synthetase 1 delta E8|selenophosphate synthetase 1 major 20141207 9606 22934 RPIA - RPI MIM:180430|HGNC:HGNC:10297|Ensembl:ENSG00000153574|HPRD:01589|Vega:OTTHUMG00000130333 2 2p11.2 ribose 5-phosphate isomerase A protein-coding RPIA ribose 5-phosphate isomerase A O phosphoriboisomerase|ribose 5-phosphate epimerase|ribose-5-phosphate isomerase 20141207 9606 22948 CCT5 - CCT-epsilon|CCTE|HEL-S-69|TCP-1-epsilon MIM:610150|HGNC:HGNC:1618|Ensembl:ENSG00000150753|HPRD:06468|Vega:OTTHUMG00000131042 5 5p15.2 chaperonin containing TCP1, subunit 5 (epsilon) protein-coding CCT5 chaperonin containing TCP1, subunit 5 (epsilon) O T-complex protein 1 subunit epsilon|T-complex protein 1, epsilon subunit|epididymis secretory protein Li 69 20141222 9606 22978 NT5C2 RP11-30H12.3 GMP|NT5B|PNT5|SPG45|SPG65|cN-II MIM:600417|HGNC:HGNC:8022|Ensembl:ENSG00000076685|HPRD:02686|Vega:OTTHUMG00000018981 10 10q24.32 5'-nucleotidase, cytosolic II protein-coding NT5C2 5'-nucleotidase, cytosolic II O 5'-nucleotidase (purine), cytosolic type B|IMP-specific 5'-NT|cytosolic 5'-nucleotidase II|cytosolic purine 5'-nucleotidase|purine 5' nucleotidase 20141207 9606 23016 EXOSC7 - EAP1|RRP42|Rrp42p|hRrp42p|p8 MIM:606488|HGNC:HGNC:28112|Ensembl:ENSG00000075914|HPRD:09401|Vega:OTTHUMG00000133095 3 3p21.31 exosome component 7 protein-coding EXOSC7 exosome component 7 O exosome complex component RRP42|exosome complex exonuclease RRP42|ribosomal RNA-processing protein 42 20141215 9606 23049 SMG1 - 61E3.4|ATX|LIP MIM:607032|HGNC:HGNC:30045|Ensembl:ENSG00000157106|HPRD:06123|Vega:OTTHUMG00000166900 16 16p12.3 SMG1 phosphatidylinositol 3-kinase-related kinase protein-coding SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase O PI-3-kinase-related kinase SMG-1|lambda-interacting protein|lambda/iota protein kinase C-interacting protein|serine/threonine-protein kinase SMG1|smg-1 homolog, phosphatidylinositol 3-kinase-related kinase 20141222 9606 23054 NCOA6 RP5-1181N3.2 AIB3|ASC2|NRC|PRIP|RAP250|TRBP MIM:605299|HGNC:HGNC:15936|Ensembl:ENSG00000198646|HPRD:05599|Vega:OTTHUMG00000032311 20 20q11 nuclear receptor coactivator 6 protein-coding NCOA6 nuclear receptor coactivator 6 O NRC RAP250|PPAR-interacting protein|activating signal cointegrator 2|activating signal cointegrator-2|amplified in breast cancer protein 3|amplified in breast cancer-3 protein|cancer-amplified transcriptional coactivator ASC-2|nuclear receptor coactivator RAP250|nuclear receptor-activating protein, 250 kDa|peroxisome proliferator-activated receptor interacting protein|peroxisome proliferator-activated receptor-interacting protein|thyroid hormone receptor binding protein|thyroid hormone receptor-binding protein 20141207 9606 23057 NMNAT2 RP11-181K3.3 C1orf15|PNAT2 MIM:608701|HGNC:HGNC:16789|Ensembl:ENSG00000157064|HPRD:09786|Vega:OTTHUMG00000035519 1 1q25 nicotinamide nucleotide adenylyltransferase 2 protein-coding NMNAT2 nicotinamide nucleotide adenylyltransferase 2 O NMN adenylyltransferase 2|NaMN adenylyltransferase 2|nicotinamide mononucleotide adenylyltransferase 2|nicotinate-nucleotide adenylyltransferase 2|pyridine nucleotide adenylyltransferase 2 20141207 9606 23097 CDK19 RP11-346C16.5 CDC2L6|CDK11|bA346C16.3 MIM:614720|HGNC:HGNC:19338|Ensembl:ENSG00000155111|HPRD:07627|Vega:OTTHUMG00000015365 6 6q21 cyclin-dependent kinase 19 protein-coding CDK19 cyclin-dependent kinase 19 O CDC2-related protein kinase 6|CDK8-like cyclin-dependent kinase|cell division cycle 2-like 6 (CDK8-like)|cell division cycle 2-like protein kinase 6|cell division protein kinase 19|cyclin dependent kinase 19 variant 2|cyclin-dependent kinase (CDC2-like) 11|cyclin-dependent kinase 11|death-preventing kinase 20141207 9606 23165 NUP205 - C7orf14 MIM:614352|HGNC:HGNC:18658|Ensembl:ENSG00000155561|HPRD:17653|Vega:OTTHUMG00000155497 7 7q33 nucleoporin 205kDa protein-coding NUP205 nucleoporin 205kDa O 205 kDa nucleoporin|nuclear pore complex protein Nup205|nucleoporin Nup205 20141207 9606 23171 GPD1L - GPD1-L MIM:611778|HGNC:HGNC:28956|Ensembl:ENSG00000152642|HPRD:10008|Vega:OTTHUMG00000155846 3 3p22.3 glycerol-3-phosphate dehydrogenase 1-like protein-coding GPD1L glycerol-3-phosphate dehydrogenase 1-like O glycerol-3-phosphate dehydrogenase 1-like protein 20141219 9606 23175 LPIN1 - PAP1 MIM:605518|HGNC:HGNC:13345|Ensembl:ENSG00000134324|HPRD:09271|Vega:OTTHUMG00000119082 2 2p25.1 lipin 1 protein-coding LPIN1 lipin 1 O lipin-1|phosphatidate phosphatase LPIN1 20141207 9606 23193 GANAB - G2AN|GLUII MIM:104160|HGNC:HGNC:4138|Ensembl:ENSG00000089597|HPRD:03516|Vega:OTTHUMG00000167696 11 11q12.3 glucosidase, alpha; neutral AB protein-coding GANAB glucosidase, alpha; neutral AB O HEL-S-164nA|alpha glucosidase II alpha subunit|alpha-glucosidase 2|epididymis secretory sperm binding protein Li 164nA|glucosidase II subunit alpha|neutral alpha-glucosidase AB 20141207 9606 23198 PSME4 - PA200 MIM:607705|HGNC:HGNC:20635|Ensembl:ENSG00000068878|HPRD:09652|Vega:OTTHUMG00000151852 2 2p16.2 proteasome (prosome, macropain) activator subunit 4 protein-coding PSME4 proteasome (prosome, macropain) activator subunit 4 O proteasome activator 200 kDa|proteasome activator PA200|proteasome activator complex subunit 4 20141207 9606 23203 PMPCA RP11-413M3.1 Alpha-MPP|INPP5E|P-55 MIM:613036|HGNC:HGNC:18667|Ensembl:ENSG00000165688|HPRD:07500|Vega:OTTHUMG00000020926 9 9q34.3 peptidase (mitochondrial processing) alpha protein-coding PMPCA peptidase (mitochondrial processing) alpha O inositol polyphosphate-5-phosphatase, 72 kD|mitochondrial matrix processing protease, alpha subunit|mitochondrial-processing peptidase subunit alpha 20141207 9606 23225 NUP210 PSEC0245 GP210|POM210 MIM:607703|HGNC:HGNC:30052|Ensembl:ENSG00000132182|HPRD:06368|Vega:OTTHUMG00000157268 3 3p25.1 nucleoporin 210kDa protein-coding NUP210 nucleoporin 210kDa O nuclear envelope pore membrane protein POM 210|nuclear pore membrane glycoprotein 210|nuclear pore protein gp210|nucleoporin Nup210|pore membrane protein of 210 kDa 20141207 9606 23236 PLCB1 RP4-654A7.1 EIEE12|PI-PLC|PLC-154|PLC-I|PLC154|PLCB1A|PLCB1B MIM:607120|HGNC:HGNC:15917|Ensembl:ENSG00000182621|HPRD:06177|Vega:OTTHUMG00000031849 20 20p12 phospholipase C, beta 1 (phosphoinositide-specific) protein-coding PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) O 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate|1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1|PLC-beta-1|inositoltrisphosphohydrolase|monophosphatidylinositol phosphodiesterase|phosphoinositidase C|phospholipase C-I|triphosphoinositide phosphodiesterase 20141222 9606 23293 SMG6 - C17orf31|EST1A|SMG-6|hSMG5/7a MIM:610963|HGNC:HGNC:17809|Ensembl:ENSG00000070366|HPRD:06502|Vega:OTTHUMG00000177578 17 17p13.3 SMG6 nonsense mediated mRNA decay factor protein-coding SMG6 SMG6 nonsense mediated mRNA decay factor O EST1 telomerase component homolog A|ever shorter telomeres 1A|smg-6 homolog, nonsense mediated mRNA decay factor|telomerase subunit EST1A|telomerase-binding protein EST1A 20141207 9606 23305 ACSL6 - ACS2|FACL6|LACS 6|LACS2|LACS5 MIM:604443|HGNC:HGNC:16496|Ensembl:ENSG00000164398|HPRD:09190|Vega:OTTHUMG00000150692 5 5q31.1 acyl-CoA synthetase long-chain family member 6 protein-coding ACSL6 acyl-CoA synthetase long-chain family member 6 O fatty-acid-Coenzyme A ligase, long-chain 6|long fatty acyl-CoA synthetase 2|long-chain-fatty-acid--CoA ligase 6 20141207 9606 23309 SIN3B - - MIM:607777|HGNC:HGNC:19354|Ensembl:ENSG00000127511|HPRD:09691|Vega:OTTHUMG00000182642 19 19p13.11 SIN3 transcription regulator family member B protein-coding SIN3B SIN3 transcription regulator family member B O SIN3 homolog B, transcriptional regulator|SIN3 transcription regulator homolog B|histone deacetylase complex subunit Sin3b|paired amphipathic helix protein Sin3b|transcriptional corepressor Sin3b 20141207 9606 23381 SMG5 RP11-54H19.7 EST1B|LPTS-RP1|LPTSRP1|SMG-5 MIM:610962|HGNC:HGNC:24644|Ensembl:ENSG00000198952|HPRD:16869|Vega:OTTHUMG00000017491 1 1q21.2 SMG5 nonsense mediated mRNA decay factor protein-coding SMG5 SMG5 nonsense mediated mRNA decay factor O EST1 telomerase component homolog B|EST1-like protein B|Est1p-like protein B|LPTS interacting protein|LPTS-interacting protein|RP11-54H19.7|ever shorter telomeres 1B|hSMG-5|protein SMG5|smg-5 homolog, nonsense mediated mRNA decay factor 20141207 9606 23382 AHCYL2 - ADOHCYASE3 HGNC:HGNC:22204|Ensembl:ENSG00000158467|HPRD:11113|Vega:OTTHUMG00000157677 7 7q32.1 adenosylhomocysteinase-like 2 protein-coding AHCYL2 adenosylhomocysteinase-like 2 O S-adenosyl-L-homocysteine hydrolase 3|S-adenosylhomocysteine hydrolase-like 2|putative adenosylhomocysteinase 3 20141207 9606 23389 MED13L - PROSIT240|THRAP2|TRAP240L MIM:608771|HGNC:HGNC:22962|HPRD:10579 12 12q24.21 mediator complex subunit 13-like protein-coding MED13L mediator complex subunit 13-like O mediator of RNA polymerase II transcription subunit 13-like|thyroid hormone receptor-associated protein 2|thyroid hormone receptor-associated protein complex 240 kDa component-like 20141207 9606 23396 PIP5K1C - LCCS3|PIP5K-GAMMA|PIP5K1-gamma|PIP5Kgamma MIM:606102|HGNC:HGNC:8996|Ensembl:ENSG00000186111|HPRD:05834|Vega:OTTHUMG00000180870 19 19p13.3 phosphatidylinositol-4-phosphate 5-kinase, type I, gamma protein-coding PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma O diphosphoinositide kinase|phosphatidylinositol 4-phosphate 5-kinase type-1 gamma|ptdIns(4)P-5-kinase 1 gamma|type I PIP kinase 20141207 9606 23404 EXOSC2 RP11-57C19.4 RRP4|Rrp4p|hRrp4p|p7 MIM:602238|HGNC:HGNC:17097|Ensembl:ENSG00000130713|HPRD:03758|Vega:OTTHUMG00000020811 9 9q34 exosome component 2 protein-coding EXOSC2 exosome component 2 O exosome complex component RRP4|exosome complex exonuclease RRP4|homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)|homolog of yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonuclease|ribosomal RNA-processing protein 4 20141207 9606 23417 MLYCD - MCD MIM:606761|HGNC:HGNC:7150|HPRD:05999 16 16q24 malonyl-CoA decarboxylase protein-coding MLYCD malonyl-CoA decarboxylase O malonyl coenzyme A decarboxylase|malonyl-CoA decarboxylase, mitochondrial 20141207 9606 23446 SLC44A1 RP11-287A8.1 CD92|CDW92|CHTL1|CTL1 MIM:606105|HGNC:HGNC:18798|Ensembl:ENSG00000070214|HPRD:16197|Vega:OTTHUMG00000020421 9 9q31.2 solute carrier family 44 (choline transporter), member 1 protein-coding SLC44A1 solute carrier family 44 (choline transporter), member 1 O CDW92 antigen|choline transporter-like protein 1|solute carrier family 44, member 1 20141207 9606 23464 GCAT - KBL MIM:607422|HGNC:HGNC:4188|Ensembl:ENSG00000100116|HPRD:07602|Vega:OTTHUMG00000150664 22 22q13.1 glycine C-acetyltransferase protein-coding GCAT glycine C-acetyltransferase O 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial|2-amino-3-ketobutyrate-CoA ligase|AKB ligase|aminoacetone synthase|glycine acetyltransferase 20141207 9606 23471 TRAM1 - PNAS8|TRAM|TRAMP MIM:605190|HGNC:HGNC:20568|Ensembl:ENSG00000067167|HPRD:05545|Vega:OTTHUMG00000164428 8 8q13.3 translocation associated membrane protein 1 protein-coding TRAM1 translocation associated membrane protein 1 O translocating chain-associated membrane protein 1|translocating chain-associating membrane protein|translocation-associating membrane protein 1 20141207 9606 23474 ETHE1 - HSCO|YF13H12 MIM:608451|HGNC:HGNC:23287|Ensembl:ENSG00000105755|HPRD:09764|Vega:OTTHUMG00000182697 19 19q13.31 ethylmalonic encephalopathy 1 protein-coding ETHE1 ethylmalonic encephalopathy 1 O ethylmalonic encephalopathy protein 1|hepatoma subtracted clone one protein|persulfide dioxygenase ETHE1, mitochondrial|protein ETHE1, mitochondrial|sulfur dioxygenase ETHE1 20141207 9606 23475 QPRT - HEL-S-90n|QPRTase MIM:606248|HGNC:HGNC:9755|HPRD:06950 16 16p11.2 quinolinate phosphoribosyltransferase protein-coding QPRT quinolinate phosphoribosyltransferase O QAPRTase|epididymis secretory sperm binding protein Li 90n|nicotinate-nucleotide pyrophosphorylase (carboxylating)|nicotinate-nucleotide pyrophosphorylase [carboxylating] 20141207 9606 23478 SEC11A - 1810012E07Rik|SEC11L1|SPC18|SPCS4A|sid2895 HGNC:HGNC:17718|Ensembl:ENSG00000140612|HPRD:07503|Vega:OTTHUMG00000172489 15 15q25.3 SEC11 homolog A (S. cerevisiae) protein-coding SEC11A SEC11 homolog A (S. cerevisiae) O SEC11-like protein 1|SPase 18 kDa subunit|endopeptidase SP18|microsomal signal peptidase 18 kDa subunit|signal peptidase complex (18kD)|signal peptidase complex catalytic subunit SEC11A 20141207 9606 23480 SEC61G - SSS1 MIM:609215|HGNC:HGNC:18277|Ensembl:ENSG00000132432|HPRD:15318|Vega:OTTHUMG00000023430 7 7p11.2 Sec61 gamma subunit protein-coding SEC61G Sec61 gamma subunit O protein transport protein SEC61 gamma subunit|protein transport protein Sec61 subunit gamma 20141207 9606 23498 HAAO - 3-HAO|HAO MIM:604521|HGNC:HGNC:4796|Ensembl:ENSG00000162882|HPRD:05158|Vega:OTTHUMG00000152348 2 2p21 3-hydroxyanthranilate 3,4-dioxygenase protein-coding HAAO 3-hydroxyanthranilate 3,4-dioxygenase O 3-HAO|3-hydroxyanthranilate oxygenase|3-hydroxyanthranilic acid dioxygenase|HAD 20141207 9606 23511 NUP188 RP11-167N5.2 KIAA0169|hNup188 MIM:615587|HGNC:HGNC:17859|Ensembl:ENSG00000095319|HPRD:18582|Vega:OTTHUMG00000020768 9 9q34.11 nucleoporin 188kDa protein-coding NUP188 nucleoporin 188kDa O nucleoporin NUP188 homolog 20141207 9606 23521 RPL13A - L13A|TSTA1 HGNC:HGNC:10304|Ensembl:ENSG00000142541|HPRD:11775|Vega:OTTHUMG00000134289 19 19q13.3 ribosomal protein L13a protein-coding RPL13A ribosomal protein L13a O 23 kDa highly basic protein|60S ribosomal protein L13a|tissue specific transplantation antigen 1 20141207 9606 23530 NNT hCG_17428 GCCD4 MIM:607878|HGNC:HGNC:7863|Ensembl:ENSG00000112992|HPRD:09715|Vega:OTTHUMG00000096961 5 5p12 nicotinamide nucleotide transhydrogenase protein-coding NNT nicotinamide nucleotide transhydrogenase O NAD(P) transhydrogenase, mitochondrial|pyridine nucleotide transhydrogenase 20141207 9606 23533 PIK3R5 - F730038I15Rik|FOAP-2|P101-PI3K|p101 MIM:611317|HGNC:HGNC:30035|Ensembl:ENSG00000141506|HPRD:11433|Vega:OTTHUMG00000108197 17 17p13.1 phosphoinositide-3-kinase, regulatory subunit 5 protein-coding PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 O PI3-kinase p101 subunit|phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit|phosphatidylinositol-4,5-bisphosphate 3-kinase regulatory subunit|phosphoinositide 3-kinase regulatory subunit 5|protein FOAP-2|ptdIns-3-kinase p101 20141207 9606 23539 SLC16A8 RP5-1039K5.14-003 MCT3|REMP MIM:610409|HGNC:HGNC:16270|Ensembl:ENSG00000100156|HPRD:11568|Vega:OTTHUMG00000151196 22 22q12.3-q13.2 solute carrier family 16 (monocarboxylate transporter), member 8 protein-coding SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8 O MCT 3|monocarboxylate transporter 3|solute carrier 16 (monocarboxylic acid transporters), member 8|solute carrier family 16 member 8|solute carrier family 16, member 8 (monocarboxylic acid transporter 3) 20141207 9606 23556 PIGN - MCAHS|MCAHS1|MCD4|MDC4|PIG-N MIM:606097|HGNC:HGNC:8967|Ensembl:ENSG00000197563|HPRD:12085|Vega:OTTHUMG00000180098 18 18q21.33 phosphatidylinositol glycan anchor biosynthesis, class N protein-coding PIGN phosphatidylinositol glycan anchor biosynthesis, class N O GPI ethanolamine phosphate transferase 1|MCD4 homolog|phosphatidylinositol-glycan biosynthesis class N protein 20141207 9606 23563 CHST5 - I-GlcNAc-6-ST|I-GlcNAc6ST|glcNAc6ST-3|gn6st-3|hIGn6ST MIM:604817|HGNC:HGNC:1973|Ensembl:ENSG00000135702|HPRD:07059|Vega:OTTHUMG00000137610 16 16q22.3 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 protein-coding CHST5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 O GST4-alpha|N-acetylglucosamine 6-O-sulfotransferase 3|carbohydrate sulfotransferase 5|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-alpha|intestinal GlcNAc-6-sulfotransferase 20141207 9606 23600 AMACR - AMACRD|CBAS4|RACE|RM MIM:604489|HGNC:HGNC:451|Ensembl:ENSG00000242110|HPRD:05134|Vega:OTTHUMG00000090734 5 5p13 alpha-methylacyl-CoA racemase protein-coding AMACR alpha-methylacyl-CoA racemase O 2-methylacyl-CoA racemase 20141209 9606 23632 CA14 UNQ690/PRO1335 CAXiV MIM:604832|HGNC:HGNC:1372|Ensembl:ENSG00000118298|HPRD:05320|Vega:OTTHUMG00000012549 1 1q21 carbonic anhydrase XIV protein-coding CA14 carbonic anhydrase XIV O CA-XIV|carbonate dehydratase XIV|carbonic anhydrase 14|carbonic dehydratase 20141207 9606 23636 NUP62 - IBSN|SNDI|p62 MIM:605815|HGNC:HGNC:8066|Ensembl:ENSG00000213024|HPRD:05782|Vega:OTTHUMG00000183077 19 19q13.33 nucleoporin 62kDa protein-coding NUP62 nucleoporin 62kDa O 62 kDa nucleoporin|nuclear pore glycoprotein p62|nucleoporin 62kD|nucleoporin Nup62 20141207 9606 23644 EDC4 - GE1|Ge-1|HEDL5|HEDLS|RCD-8|RCD8 MIM:606030|HGNC:HGNC:17157|Ensembl:ENSG00000038358|HPRD:06911|Vega:OTTHUMG00000137543 16 16q22.1 enhancer of mRNA decapping 4 protein-coding EDC4 enhancer of mRNA decapping 4 O autoantigen Ge-1|autoantigen RCD-8|enhancer of mRNA-decapping protein 4|human enhancer of decapping large subunit 20141207 9606 23646 PLD3 - AD19|HU-K4|HUK4 MIM:615698|HGNC:HGNC:17158|Ensembl:ENSG00000105223|HPRD:07148|Vega:OTTHUMG00000152736 19 19q13.2 phospholipase D family, member 3 protein-coding PLD3 phospholipase D family, member 3 O choline phosphatase 3|hindIII K4L homolog|phosphatidylcholine-hydrolyzing phospholipase D3|phospholipase D3 20141212 9606 23649 POLA2 - - HGNC:HGNC:30073|HPRD:10160 11 11q13.1 polymerase (DNA directed), alpha 2, accessory subunit protein-coding POLA2 polymerase (DNA directed), alpha 2, accessory subunit O DNA polymerase alpha 70 kDa subunit|DNA polymerase alpha subunit B|polymerase (DNA directed), alpha 2 (70kD subunit)|polymerase (DNA-directed), alpha (70kD) 20141207 9606 23658 LSM5 - YER146W MIM:607285|HGNC:HGNC:17162|Ensembl:ENSG00000106355|HPRD:06285|Vega:OTTHUMG00000022913 7 7p14.3 LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) protein-coding LSM5 LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) O U6 snRNA-associated Sm-like protein LSm5 20141207 9606 23659 PLA2G15 UNQ341/PRO540 ACS|GXVPLA2|LLPL|LPLA2|LYPLA3 MIM:609362|HGNC:HGNC:17163|Ensembl:ENSG00000103066|HPRD:07128|Vega:OTTHUMG00000137554 16 16q22.1 phospholipase A2, group XV protein-coding PLA2G15 phospholipase A2, group XV O 1-O-acylceramide synthase|LCAT-like lysophospholipase|group XV phospholipase A2|lysophospholipase 3 (lysosomal phospholipase A2)|lysosomal phospholipase A2 20141207 9606 23708 GSPT2 - ERF3B|GST2 MIM:300418|HGNC:HGNC:4622|Ensembl:ENSG00000189369|HPRD:02334|Vega:OTTHUMG00000021538 X Xp11.22 G1 to S phase transition 2 protein-coding GSPT2 G1 to S phase transition 2 O eukaryotic peptide chain release factor GTP-binding subunit ERF3B|eukaryotic peptide chain release factor subunit 3b 20141207 9606 23760 PITPNB RP3-353E16.2 PI-TP-beta|PtdInsTP|VIB1B MIM:606876|HGNC:HGNC:9002|Ensembl:ENSG00000180957|HPRD:06044|Vega:OTTHUMG00000150976 22 22q12.1 phosphatidylinositol transfer protein, beta protein-coding PITPNB phosphatidylinositol transfer protein, beta O PtdIns transfer protein beta|phosphatidylinositol transfer protein beta isoform|phosphotidylinositol transfer protein, beta 20141207 9606 23761 PISD RP5-858B16.2 DJ858B16|PSD|PSDC|PSSC|dJ858B16.2 MIM:612770|HGNC:HGNC:8999|Ensembl:ENSG00000241878|HPRD:17854|Vega:OTTHUMG00000030252 22 22q12.2 phosphatidylserine decarboxylase protein-coding PISD phosphatidylserine decarboxylase O phosphatidylserine decarboxylase proenzyme 20141207 9606 24142 NAT6 - FUS-2|FUS2 MIM:607073|HGNC:HGNC:30252|Ensembl:ENSG00000243477|HPRD:06148|Vega:OTTHUMG00000156939 3 3p21.3 N-acetyltransferase 6 (GCN5-related) protein-coding NAT6 N-acetyltransferase 6 (GCN5-related) O N-acetyltransferase 6|protein fusion-2 20141207 9606 25796 PGLS - 6PGL MIM:604951|HGNC:HGNC:8903|Ensembl:ENSG00000130313|HPRD:12001|Vega:OTTHUMG00000182879 19 19p13.2 6-phosphogluconolactonase protein-coding PGLS 6-phosphogluconolactonase O - 20141207 9606 25804 LSM4 - GRP|YER112W MIM:607284|HGNC:HGNC:17259|Ensembl:ENSG00000130520|HPRD:06284|Vega:OTTHUMG00000183357 19 19p13.11 LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) protein-coding LSM4 LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) O U6 snRNA-associated Sm-like protein LSm4|glycine-rich protein 20141207 9606 25813 SAMM50 CGI-51 OMP85|SAM50|TOB55|TRG-3|YNL026W MIM:612058|HGNC:HGNC:24276|Ensembl:ENSG00000100347|HPRD:10826|Vega:OTTHUMG00000150557 22 22q13.31 SAMM50 sorting and assembly machinery component protein-coding SAMM50 SAMM50 sorting and assembly machinery component O sorting and assembly machinery 50kDa|sorting and assembly machinery component 50 homolog|transformation-related gene 3 protein 20141207 9606 25834 MGAT4C - GNTIVH|HGNT-IV-H MIM:607385|HGNC:HGNC:30871|HPRD:09575 12 12q21 MGAT4 family, member C protein-coding MGAT4C MGAT4 family, member C O N-acetylglucosaminyltransferase IV homolog|N-acetylglucosaminyltransferase IVc|N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVc|UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVc|UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV|UDP-N-acetylglucosamine:a-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homolog|alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C|glcNAc-T IVc|gnT-IVc|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 20141207 9606 25870 SUMF2 PSEC0171 pFGE MIM:607940|HGNC:HGNC:20415|Ensembl:ENSG00000129103|HPRD:06400|Vega:OTTHUMG00000129373 7 7q11.1 sulfatase modifying factor 2 protein-coding SUMF2 sulfatase modifying factor 2 O C-alpha-formyglycine-generating enzyme 2|C-alpha-formylglycine-generating enzyme 2|paralog of the formylglycine-generating enzyme|sulfatase-modifying factor 2 20141207 9606 25873 RPL36 - L36 HGNC:HGNC:13631|Ensembl:ENSG00000130255|HPRD:10201|Vega:OTTHUMG00000178585 19 19p13.3 ribosomal protein L36 protein-coding RPL36 ribosomal protein L36 O 60S ribosomal protein L36 20141207 9606 25885 POLR1A - A190|RPA1|RPA194|RPO1-4|RPO14 HGNC:HGNC:17264|Ensembl:ENSG00000068654|HPRD:10161|Vega:OTTHUMG00000153165 2 2p11.2 polymerase (RNA) I polypeptide A, 194kDa protein-coding POLR1A polymerase (RNA) I polypeptide A, 194kDa O DNA-directed RNA polymerase I largest subunit|DNA-directed RNA polymerase I subunit A|DNA-directed RNA polymerase I subunit A1|DNA-directed RNA polymerase I subunit RPA1|RNA polymerase I 194 kDa subunit|RNA polymerase I subunit A1 20141207 9606 25902 MTHFD1L RP1-292B18.2 FTHFSDC1|MTC1THFS|dJ292B18.2 MIM:611427|HGNC:HGNC:21055|Ensembl:ENSG00000120254|HPRD:09967|Vega:OTTHUMG00000015828 6 6q25.1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like protein-coding MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like O 10-formyl-THF synthetase|formyltetrahydrofolate synthetase domain containing 1|monofunctional C1-tetrahydrofolate synthase, mitochondrial 20141207 9606 25904 CNOT10 - - HGNC:HGNC:23817|Ensembl:ENSG00000182973|HPRD:16731|Vega:OTTHUMG00000130748 3 3p22.3 CCR4-NOT transcription complex, subunit 10 protein-coding CNOT10 CCR4-NOT transcription complex, subunit 10 O CCR4-NOT transcription complex subunit 10 20141207 9606 25929 GEMIN5 - GEMIN-5 MIM:607005|HGNC:HGNC:20043|Ensembl:ENSG00000082516|HPRD:06109|Vega:OTTHUMG00000130189 5 5q33.2 gem (nuclear organelle) associated protein 5 protein-coding GEMIN5 gem (nuclear organelle) associated protein 5 O gem-associated protein 5 20141207 9606 25937 WWTR1 - TAZ MIM:607392|HGNC:HGNC:24042|Ensembl:ENSG00000018408|HPRD:09580|Vega:OTTHUMG00000159614 3 3q23-q24 WW domain containing transcription regulator 1 protein-coding WWTR1 WW domain containing transcription regulator 1 O WW domain-containing transcription regulator protein 1|transcriptional co-activator with PDZ-binding motif|transcriptional coactivator with PDZ-binding motif 20141207 9606 25942 SIN3A - - MIM:607776|HGNC:HGNC:19353|Ensembl:ENSG00000169375|HPRD:09690|Vega:OTTHUMG00000142834 15 15q24.2 SIN3 transcription regulator family member A protein-coding SIN3A SIN3 transcription regulator family member A O SIN3 homolog A, transcription regulator|SIN3 transcription regulator homolog A|histone deacetylase complex subunit Sin3a|paired amphipathic helix protein Sin3a|transcriptional co-repressor Sin3A|transcriptional corepressor Sin3a|transcriptional regulator, SIN3A 20141207 9606 26007 DAK - NET45 MIM:615844|HGNC:HGNC:24552|Ensembl:ENSG00000149476|HPRD:13180|Vega:OTTHUMG00000168076 11 11q12.2 dihydroxyacetone kinase 2 homolog (S. cerevisiae) protein-coding DAK dihydroxyacetone kinase 2 homolog (S. cerevisiae) O ATP-dependent dihydroxyacetone kinase|DHA kinase|Dha kinase/FMN cyclase|FAD-AMP lyase cyclic FMN forming|FAD-AMP lyase cyclizing|bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing)|glycerone kinase 20141207 9606 26019 UPF2 - HUPF2|RENT2|smg-3 MIM:605529|HGNC:HGNC:17854|Ensembl:ENSG00000151461|HPRD:10405|Vega:OTTHUMG00000017678 10 10p14-p13 UPF2 regulator of nonsense transcripts homolog (yeast) protein-coding UPF2 UPF2 regulator of nonsense transcripts homolog (yeast) O nonsense mRNA reducing factor 2|regulator of nonsense transcripts 2|smg-3 homolog, nonsense mediated mRNA decay factor|up-frameshift suppressor 2 homolog|yeast Upf2p homolog 20141207 9606 26035 GLCE - HSEPI MIM:612134|HGNC:HGNC:17855|Ensembl:ENSG00000138604|HPRD:07020|Vega:OTTHUMG00000172084 15 15q23 glucuronic acid epimerase protein-coding GLCE glucuronic acid epimerase O D-glucuronyl C5-epimerase|UDP-glucuronic acid epimerase|glucuronyl C5-epimerase|heparan sulfate C5-epimerase|heparan sulfate epimerase|heparin/heparan sulfate-glucuronic acid C5-epimerase|heparin/heparan sulfate:glucuronic acid C5-epimerase|heparosan-N-sulfate-glucuronate 5-epimerase 20141207 9606 26061 HACL1 HSPC279 2-HPCL|HPCL|HPCL2|PHYH2 MIM:604300|HGNC:HGNC:17856|Ensembl:ENSG00000131373|HPRD:09183|Vega:OTTHUMG00000129862 3 3p25.1 2-hydroxyacyl-CoA lyase 1 protein-coding HACL1 2-hydroxyacyl-CoA lyase 1 O 1600020H07Rik|2-hydroxyphytanol-CoA lyase|2-hydroxyphytanoyl-CoA lyase|phytanoyl-CoA 2-hydroxylase 2|phytanoyl-CoA hydroxylase 2 20141207 9606 26119 LDLRAP1 RP11-70P17.2 ARH|ARH1|ARH2|FHCB1|FHCB2 MIM:605747|HGNC:HGNC:18640|Ensembl:ENSG00000157978|HPRD:05765|Vega:OTTHUMG00000007386 1 1p36-p35 low density lipoprotein receptor adaptor protein 1 protein-coding LDLRAP1 low density lipoprotein receptor adaptor protein 1 O LDL receptor adaptor protein|autosomal recessive hypercholesterolemia protein|low density lipoprotein receptor adapter protein 1 20141207 9606 26190 FBXW2 RP11-88M19.2 FBW2|Fwd2|Md6 MIM:609071|HGNC:HGNC:13608|Ensembl:ENSG00000119402|HPRD:09950|Vega:OTTHUMG00000020576 9 9q34 F-box and WD repeat domain containing 2 protein-coding FBXW2 F-box and WD repeat domain containing 2 O F-box and WD-40 domain protein 2|F-box and WD-40 domain-containing protein 2|F-box/WD repeat-containing protein 2 20141207 9606 26224 FBXL3 - FBL3|FBL3A|FBXL3A MIM:605653|HGNC:HGNC:13599|Ensembl:ENSG00000005812|HPRD:05737|Vega:OTTHUMG00000017099 13 13q22 F-box and leucine-rich repeat protein 3 protein-coding FBXL3 F-box and leucine-rich repeat protein 3 O F-box and leucine-rich repeat protein 3A|F-box protein Fbl3a|F-box/LRR-repeat protein 3|F-box/LRR-repeat protein 3A 20141207 9606 26227 PHGDH RP4-683H9.1 3-PGDH|3PGDH|HEL-S-113|NLS|NLS1|PDG|PGAD|PGD|PGDH|PHGDHD|SERA MIM:606879|HGNC:HGNC:8923|Ensembl:ENSG00000092621|HPRD:06047|Vega:OTTHUMG00000012100 1 1p12 phosphoglycerate dehydrogenase protein-coding PHGDH phosphoglycerate dehydrogenase O 3-phosphoglycerate dehydrogenase|D-3-phosphoglycerate dehydrogenase|epididymis secretory protein Li 113 20141211 9606 26229 B3GAT3 - GLCATI|glcUAT-I MIM:606374|HGNC:HGNC:923|Ensembl:ENSG00000149541|HPRD:07564|Vega:OTTHUMG00000167685 11 11q12.3 beta-1,3-glucuronyltransferase 3 protein-coding B3GAT3 beta-1,3-glucuronyltransferase 3 O Sqv-8-like protein|UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase|beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)|galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 20141207 9606 26230 TIAM2 RP3-414L4.2 STEF|TIAM-2 MIM:604709|HGNC:HGNC:11806|Ensembl:ENSG00000146426|HPRD:05273|Vega:OTTHUMG00000015880 6 6q25.2 T-cell lymphoma invasion and metastasis 2 protein-coding TIAM2 T-cell lymphoma invasion and metastasis 2 O SIF and TIAM1-like exchange factor|T-lymphoma invasion and metastasis-inducing protein 2 20141207 9606 26234 FBXL5 - FBL4|FBL5|FLR1 MIM:605655|HGNC:HGNC:13602|Ensembl:ENSG00000118564|HPRD:05739|Vega:OTTHUMG00000097097 4 4p15.32 F-box and leucine-rich repeat protein 5 protein-coding FBXL5 F-box and leucine-rich repeat protein 5 O F-box protein FBL4/FBL5|F-box protein FBL5|F-box/LRR-repeat protein 5|p45SKP2-like protein 20141207 9606 26251 KCNG2 - KCNF2|KV6.2 MIM:605696|HGNC:HGNC:6249|Ensembl:ENSG00000178342|HPRD:12036|Vega:OTTHUMG00000044541 18 18q23 potassium voltage-gated channel, subfamily G, member 2 protein-coding KCNG2 potassium voltage-gated channel, subfamily G, member 2 O cardiac potassium channel subunit|potassium voltage-gated channel subfamily G member 2|voltage-gated potassium channel subunit Kv6.2 20141207 9606 26270 FBXO6 RP3-330O12.3 FBG2|FBS2|FBX6|Fbx6b MIM:605647|HGNC:HGNC:13585|Ensembl:ENSG00000116663|HPRD:07291|Vega:OTTHUMG00000002229 1 1p36.22 F-box protein 6 protein-coding FBXO6 F-box protein 6 O F-box only protein 6|F-box protein FBG2|F-box protein Fbx6|F-box protein that recognizes sugar chains 2|F-box/G-domain protein 2 20141207 9606 26272 FBXO4 - FBX4 MIM:609090|HGNC:HGNC:13583|Ensembl:ENSG00000151876|HPRD:09949|Vega:OTTHUMG00000094799 5 5p12 F-box protein 4 protein-coding FBXO4 F-box protein 4 O F-box only protein 4|F-box protein Fbx4 20141207 9606 26275 HIBCH - HIBYLCOAH MIM:610690|HGNC:HGNC:4908|Ensembl:ENSG00000198130|HPRD:11023|Vega:OTTHUMG00000132673 2 2q32.2 3-hydroxyisobutyryl-CoA hydrolase protein-coding HIBCH 3-hydroxyisobutyryl-CoA hydrolase O 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial|3-hydroxyisobutyryl-Coenzyme A hydrolase|HIB-CoA hydrolase|HIBYL-CoA-H 20141207 9606 26279 PLA2G2D UNQ768 PLA2IID|SPLASH|sPLA2-IID|sPLA2S MIM:605630|HGNC:HGNC:9033|Ensembl:ENSG00000117215|HPRD:07546 1 1p36.12 phospholipase A2, group IID protein-coding PLA2G2D phospholipase A2, group IID O GIID sPLA2|group IID secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 2D|secretory phospholipase A2s|secretory-type PLA, stroma-associated homolog 20141207 9606 26289 AK5 - AK6 MIM:608009|HGNC:HGNC:365|Ensembl:ENSG00000154027|HPRD:10472|Vega:OTTHUMG00000009796 1 1p31 adenylate kinase 5 protein-coding AK5 adenylate kinase 5 O AK 5|ATP-AMP transphosphorylase 5|adenylate kinase 6|adenylate kinase isoenzyme 5 20141207 9606 26290 GALNT8 - GALNAC-T8 MIM:606250|HGNC:HGNC:4130|Ensembl:ENSG00000130035|HPRD:09374|Vega:OTTHUMG00000166188 12 12p13.3 polypeptide N-acetylgalactosaminyltransferase 8 protein-coding GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 O GalNAc transferase 8|UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 8|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)|polypeptide GalNAc transferase 8|pp-GaNTase 8|probable polypeptide N-acetylgalactosaminyltransferase 8|protein-UDP acetylgalactosaminyltransferase 8 20141207 9606 26330 GAPDHS HSD35 GAPD2|GAPDH-2|GAPDS|HSD-35 MIM:609169|HGNC:HGNC:24864|Ensembl:ENSG00000105679|HPRD:13566|Vega:OTTHUMG00000182298 19 19q13.12 glyceraldehyde-3-phosphate dehydrogenase, spermatogenic protein-coding GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic O glyceraldehyde-3-phosphate dehydrogenase, testis-specific|spermatogenic cell-specific glyceraldehyde 3-phosphate dehydrogenase 2|spermatogenic glyceraldehyde-3-phosphate dehydrogenase 20141207 9606 26515 TIMM10B - FXC1|TIM10B|Tim9b MIM:607388|HGNC:HGNC:4022|Ensembl:ENSG00000132286|HPRD:16242|Vega:OTTHUMG00000179826 11 11p15.4 translocase of inner mitochondrial membrane 10 homolog B (yeast) protein-coding TIMM10B translocase of inner mitochondrial membrane 10 homolog B (yeast) O fracture callus 1 homolog|fracture callus protein 1|mitochondrial import inner membrane translocase subunit Tim10 B|mitochondrial import inner membrane translocase subunit Tim9 B 20141207 9606 26517 TIMM13 - TIM13|TIM13B|TIMM13A|TIMM13B|ppv1 MIM:607383|HGNC:HGNC:11816|Ensembl:ENSG00000099800|HPRD:09573|Vega:OTTHUMG00000180432 19 19p13.3 translocase of inner mitochondrial membrane 13 homolog (yeast) protein-coding TIMM13 translocase of inner mitochondrial membrane 13 homolog (yeast) O mitochondrial import inner membrane translocase subunit Tim13|mitochondrial import inner membrane translocase subunit Tim13B 20141207 9606 26519 TIMM10 - TIM10|TIM10A MIM:602251|HGNC:HGNC:11814|Ensembl:ENSG00000134809|HPRD:03768|Vega:OTTHUMG00000167039 11 11q12.1-q12.3 translocase of inner mitochondrial membrane 10 homolog (yeast) protein-coding TIMM10 translocase of inner mitochondrial membrane 10 homolog (yeast) O mitochondrial import inner membrane translocase subunit Tim10 20141207 9606 26520 TIMM9 - TIM9|TIM9A MIM:607384|HGNC:HGNC:11819|Ensembl:ENSG00000100575|HPRD:09574|Vega:OTTHUMG00000140322 14 14q21 translocase of inner mitochondrial membrane 9 homolog (yeast) protein-coding TIMM9 translocase of inner mitochondrial membrane 9 homolog (yeast) O mitochondrial import inner membrane translocase subunit Tim9 20141207 9606 26521 TIMM8B - DDP2|TIM8B MIM:606659|HGNC:HGNC:11818|Ensembl:ENSG00000150779|HPRD:16228|Vega:OTTHUMG00000162261 11 11q23.1-q23.2 translocase of inner mitochondrial membrane 8 homolog B (yeast) protein-coding TIMM8B translocase of inner mitochondrial membrane 8 homolog B (yeast) O DDP-like protein|deafness dystonia protein 2|mitochondrial import inner membrane translocase subunit Tim8 B 20141207 9606 26873 OPLAH - 5-Opase|OPLA|OPLAHD MIM:614243|HGNC:HGNC:8149|Ensembl:ENSG00000178814|HPRD:14880|Vega:OTTHUMG00000165435 8 8q24.3 5-oxoprolinase (ATP-hydrolysing) protein-coding OPLAH 5-oxoprolinase (ATP-hydrolysing) O 5-oxo-L-prolinase|5-oxoprolinase|pyroglutamase 20141211 9606 26985 AP3M1 RP11-178G16.4 - MIM:610366|HGNC:HGNC:569|Ensembl:ENSG00000185009|HPRD:16496|Vega:OTTHUMG00000018497 10 10q22.2 adaptor-related protein complex 3, mu 1 subunit protein-coding AP3M1 adaptor-related protein complex 3, mu 1 subunit O AP-3 adapter complex mu3A subunit|AP-3 adaptor complex mu3A subunit|AP-3 complex subunit mu-1|adapter-related protein complex 3 mu-1 subunit|adapter-related protein complex 3 subunit mu-1|adaptor-related protein complex 3 subunit mu-1|clathrin adaptor complex AP3, mu-3A subunit|mu-adaptin 3A|mu3A-adaptin 20141207 9606 26986 PABPC1 - PAB1|PABP|PABP1|PABPC2|PABPL1 MIM:604679|HGNC:HGNC:8554|Ensembl:ENSG00000070756|HPRD:05247|Vega:OTTHUMG00000164779 8 8q22.2-q23 poly(A) binding protein, cytoplasmic 1 protein-coding PABPC1 poly(A) binding protein, cytoplasmic 1 O poly(A) binding protein, cytoplasmic 2|polyadenylate-binding protein 1 20141222 9606 27010 TPK1 - HTPK1|PP20|THMD5 MIM:606370|HGNC:HGNC:17358|Ensembl:ENSG00000196511|HPRD:06967|Vega:OTTHUMG00000152774 7 7q34-q35 thiamin pyrophosphokinase 1 protein-coding TPK1 thiamin pyrophosphokinase 1 O placental protein 20|thiamine diphosphokinase|thiamine kinase 20141207 9606 27034 ACAD8 - ACAD-8|ARC42 MIM:604773|HGNC:HGNC:87|Ensembl:ENSG00000151498|HPRD:11985|Vega:OTTHUMG00000167177 11 11q25 acyl-CoA dehydrogenase family, member 8 protein-coding ACAD8 acyl-CoA dehydrogenase family, member 8 O activator-recruited cofactor 42 kDa component|acyl-Coenzyme A dehydrogenase family, member 8|isobutyryl-CoA dehydrogenase, mitochondrial 20141207 9606 27063 ANKRD1 - ALRP|C-193|CARP|CVARP|MCARP|bA320F15.2 MIM:609599|HGNC:HGNC:15819|Ensembl:ENSG00000148677|HPRD:10647|Vega:OTTHUMG00000018734 10 10q23.31 ankyrin repeat domain 1 (cardiac muscle) protein-coding ANKRD1 ankyrin repeat domain 1 (cardiac muscle) O ankyrin repeat domain-containing protein 1|cardiac ankyrin repeat protein|cytokine-inducible gene C-193 protein|cytokine-inducible nuclear protein|liver ankyrin repeat domain 1 20141219 9606 27087 B3GAT1 - CD57|GLCATP|GLCUATP|HNK1|LEU7|NK-1|NK1 MIM:151290|HGNC:HGNC:921|Ensembl:ENSG00000109956|HPRD:06969|Vega:OTTHUMG00000167180 11 11q25 beta-1,3-glucuronyltransferase 1 protein-coding B3GAT1 beta-1,3-glucuronyltransferase 1 O LEU7 antigen|UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase|galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1|glcUAT-P|glucuronosyltransferase P 20141207 9606 27090 ST6GALNAC4 RP11-203J24.4 IV|SIAT3-C|SIAT3C|SIAT7-D|SIAT7D|ST6GALNACIV|ST6GalNAc MIM:606378|HGNC:HGNC:17846|Ensembl:ENSG00000136840|HPRD:05902|Vega:OTTHUMG00000020724 9 9q34 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 protein-coding ST6GALNAC4 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 O NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2, 6-sialyltransferase alpha2,6-sialyltransferase|NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransferase IV|ST6 neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminidealpha-2,6-sialyltransferase 4|ST6GalNAc IV|alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase|sialyltransferase 3C|sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) 20141207 9606 27115 PDE7B RP11-472E5.2 bA472E5.1 MIM:604645|HGNC:HGNC:8792|Ensembl:ENSG00000171408|HPRD:06870|Vega:OTTHUMG00000015641 6 6q23-q24 phosphodiesterase 7B protein-coding PDE7B phosphodiesterase 7B O cAMP-specific 3',5'-cyclic phosphodiesterase 7B|high-affinity cAMP-specific 3',5'-cyclic phosphodiesterase|rolipram-insensitive phosphodiesterase type 7 20141207 9606 27124 INPP5J - INPP5|PIB5PA|PIPP MIM:606481|HGNC:HGNC:8956|Ensembl:ENSG00000185133|HPRD:07573|Vega:OTTHUMG00000151206 22 22q12.2 inositol polyphosphate-5-phosphatase J protein-coding INPP5J inositol polyphosphate-5-phosphatase J O inositol polyphosphate 5-phosphatase J|phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A|phosphatidylinositol 4,5-bisphosphate 5-phosphatase A 20141207 9606 27159 CHIA RP5-1125M8.1 AMCASE|CHIT2|TSA1902 MIM:606080|HGNC:HGNC:17432|Ensembl:ENSG00000134216|HPRD:09355|Vega:OTTHUMG00000011165 1 1p13.2 chitinase, acidic protein-coding CHIA chitinase, acidic O acidic mammalian chitinase|lung-specific protein TSA1902 20141207 9606 27165 GLS2 - GA|GLS|LGA|hLGA MIM:606365|HGNC:HGNC:29570|Ensembl:ENSG00000135423|HPRD:05901|Vega:OTTHUMG00000140379 12 12q13.3 glutaminase 2 (liver, mitochondrial) protein-coding GLS2 glutaminase 2 (liver, mitochondrial) O L-glutamine amidohydrolase|breast cell glutaminase|glutaminase I|glutaminase liver isoform, mitochondrial|phosphate-activated glutaminase|phosphate-dependent glutaminase 20141211 9606 27232 GNMT - - MIM:606628|HGNC:HGNC:4415|Ensembl:ENSG00000124713|HPRD:05970|Vega:OTTHUMG00000014712 6 6p12 glycine N-methyltransferase protein-coding GNMT glycine N-methyltransferase O HEL-S-182mP|epididymis secretory sperm binding protein Li 182mP 20141207 9606 27235 COQ2 - CL640|COQ10D1|MSA1 MIM:609825|HGNC:HGNC:25223|Ensembl:ENSG00000173085|HPRD:13062|Vega:OTTHUMG00000160940 4 4q21.23 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase protein-coding COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase O 4-hydroxybenzoate polyprenyltransferase, mitochondrial|PHB:polyprenyltransferase|coenzyme Q2 homolog, prenyltransferase|para-hydroxybenzoate-polyprenyltransferase, mitochondrial 20141207 9606 27242 TNFRSF21 UNQ437/PRO868 BM-018|CD358|DR6 MIM:605732|HGNC:HGNC:13469|Ensembl:ENSG00000146072|HPRD:05759|Vega:OTTHUMG00000014796 6 6p21.1 tumor necrosis factor receptor superfamily, member 21 protein-coding TNFRSF21 tumor necrosis factor receptor superfamily, member 21 O TNFR-related death receptor 6|death receptor 6|tumor necrosis factor receptor superfamily member 21 20141207 9606 27257 LSM1 - CASM|YJL124C MIM:607281|HGNC:HGNC:20472|Ensembl:ENSG00000175324|HPRD:06281|Vega:OTTHUMG00000164051 8 8p11.2 LSM1, U6 small nuclear RNA associated protein-coding LSM1 LSM1, U6 small nuclear RNA associated O LSM1 homolog, U6 small nuclear RNA associated|U6 snRNA-associated Sm-like protein LSm1|cancer-associated Sm-like protein|small nuclear ribonuclear CaSm 20141207 9606 27258 LSM3 MDS017 SMX4|USS2|YLR438C MIM:607283|HGNC:HGNC:17874|HPRD:06283 3 3p25.1 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) protein-coding LSM3 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) O U6 snRNA-associated Sm-like protein LSm3 20141207 9606 27294 DHDH - 2DD|HUM2DD MIM:606377|HGNC:HGNC:17887|Ensembl:ENSG00000104808|HPRD:08399|Vega:OTTHUMG00000165029 19 19q13.3 dihydrodiol dehydrogenase (dimeric) protein-coding DHDH dihydrodiol dehydrogenase (dimeric) O 3-deoxyglucosone reductase|D-xylose 1-dehydrogenase|D-xylose-NADP dehydrogenase|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase 20141207 9606 27304 MOCS3 - UBA4 MIM:609277|HGNC:HGNC:15765|HPRD:10092 20 20q13.13 molybdenum cofactor synthesis 3 protein-coding MOCS3 molybdenum cofactor synthesis 3 O MPT synthase sulfurylase|UBA4, ubiquitin-activating enzyme E1 homolog|adenylyltransferase and sulfurtransferase MOCS3|molybdenum cofactor synthesis protein 3|molybdopterin synthase sulfurylase|ubiquitin-like modifier activating enzyme 4 20141207 9606 27306 HPGDS - GSTS|GSTS1-1|PGD2|PGDS MIM:602598|HGNC:HGNC:17890|Ensembl:ENSG00000163106|HPRD:04001|Vega:OTTHUMG00000130974 4 4q22.3 hematopoietic prostaglandin D synthase protein-coding HPGDS hematopoietic prostaglandin D synthase O GST class-sigma|glutathione S-transferase sigma|glutathione-dependent PGD synthase|glutathione-dependent PGD synthetase|glutathione-requiring prostaglandin D synthase|hematopoietic prostaglandin D2 synthase|prostaglandin-H2 D-isomerase 20141207 9606 27335 EIF3K ARG134 EIF3-p28|EIF3S12|HSPC029|M9|MSTP001|PLAC-24|PLAC24|PRO1474|PTD001 MIM:609596|HGNC:HGNC:24656|Ensembl:ENSG00000178982|HPRD:11740|Vega:OTTHUMG00000180865 19 19q13.2 eukaryotic translation initiation factor 3, subunit K protein-coding EIF3K eukaryotic translation initiation factor 3, subunit K O eIF-3 p28|eukaryotic translation initiation factor 3 subunit K|eukaryotic translation initiation factor 3, subunit 12|muscle specific|muscle-specific gene M9 protein 20141207 9606 27430 MAT2B MSTP045 MAT-II|MATIIbeta|Nbla02999|SDR23E1|TGR MIM:605527|HGNC:HGNC:6905|Ensembl:ENSG00000038274|HPRD:05701|Vega:OTTHUMG00000130379 5 5q34-q35 methionine adenosyltransferase II, beta protein-coding MAT2B methionine adenosyltransferase II, beta O MAT II beta|beta regulatory subunit of methionine adenosyltransferase|dTDP-4-keto-6-deoxy-D-glucose 4-reductase|methionine adenosyltransferase 2 subunit beta|putative dTDP-4-keto-6-deoxy-D-glucose 4-reductase|putative protein product of Nbla02999|short chain dehydrogenase/reductase family 23E, member 1 20141207 9606 28234 SLCO1B3 - HBLRR|LST-2|LST-3TM13|LST3|OATP-8|OATP1B3|OATP8|SLC21A8 MIM:605495|HGNC:HGNC:10961|Ensembl:ENSG00000111700|HPRD:12021|Vega:OTTHUMG00000169011 12 12p12 solute carrier organic anion transporter family, member 1B3 protein-coding SLCO1B3 solute carrier organic anion transporter family, member 1B3 O liver-specific organic anion transporter 2|liver-specific organic anion transporter 3TM13|organic anion transporter 8|organic anion transporter LST-3c|organic anion-transporting polypeptide 8|solute carrier family 21 (organic anion transporter), member 8|solute carrier organic anion transporter family member 1B3 20141219 9606 28960 DCPS HSPC015 DCS1|HINT-5|HINT5|HSL1 MIM:610534|HGNC:HGNC:29812|Ensembl:ENSG00000110063|HPRD:16787|Vega:OTTHUMG00000165829 11 11q24.2 decapping enzyme, scavenger protein-coding DCPS decapping enzyme, scavenger O decapping scavenger enzyme|heat shock-like protein 1|hint-related 7meGMP-directed hydrolase|histidine triad nucleotide-binding protein 5|histidine triad protein member 5|homolog of C. elegans 7meGMP-directed hydrolase dcs-1|m7GpppX diphosphatase|mRNA decapping enzyme|scavenger mRNA-decapping enzyme DcpS 20141222 9606 28972 SPCS1 HSPC033 SPC1|SPC12|YJR010C-A MIM:610358|HGNC:HGNC:23401|Ensembl:ENSG00000114902 3 3p21.1 signal peptidase complex subunit 1 homolog (S. cerevisiae) protein-coding SPCS1 signal peptidase complex subunit 1 homolog (S. cerevisiae) O SPase 12 kDa subunit|microsomal signal peptidase 12 kDa subunit|signal peptidase 12kDa|signal peptidase complex subunit 1 20141207 9606 28985 MCTS1 - MCT-1|MCT1 MIM:300587|HGNC:HGNC:23357|HPRD:06634 X Xq24 malignant T cell amplified sequence 1 protein-coding MCTS1 malignant T cell amplified sequence 1 O malignant T-cell-amplified sequence 1|multiple copies T-cell malignancies 20141207 9606 29071 C1GALT1C1 HSPC067 C1GALT2|C38H2-L1|COSMC|MST143|TNPS MIM:300611|HGNC:HGNC:24338|Ensembl:ENSG00000171155|HPRD:06462|Vega:OTTHUMG00000022305 X Xq24 C1GALT1-specific chaperone 1 protein-coding C1GALT1C1 C1GALT1-specific chaperone 1 O C1Gal-T2|C38H2-like protein 1|beta 1,3-galactosyltransferase 2|core 1 beta1,3-galactosyltransferase 2|core 1 beta3-Gal-T2|core 1 beta3-galactosyltransferase-specific molecular chaperone 20141207 9606 29079 MED4 RP11-90M2.2 ARC36|DRIP36|HSPC126|TRAP36|VDRIP MIM:605718|HGNC:HGNC:17903|Ensembl:ENSG00000136146|HPRD:16145|Vega:OTTHUMG00000016891 13 13q14.2 mediator complex subunit 4 protein-coding MED4 mediator complex subunit 4 O TRAP/SMCC/PC2 subunit p36|activator-recruited cofactor 36 kDa component|mediator of RNA polymerase II transcription subunit 4|mediator, 34-kD subunit, homolog|vitamin D receptor-interacting protein, 36-kD|vitamin D3 receptor-interacting protein complex 36 kDa component 20141207 9606 29085 PHPT1 RP11-216L13.10-005 CGI-202|HEL-S-132P|HSPC141|PHP14 MIM:610167|HGNC:HGNC:30033|HPRD:17849 9 9q34.3 phosphohistidine phosphatase 1 protein-coding PHPT1 phosphohistidine phosphatase 1 O 14 kDa phosphohistidine phosphatase|epididymis secretory sperm binding protein Li 132P|protein janus-A homolog|sex-regulated protein janus-a 20141207 9606 29841 GRHL1 - LBP32|MGR|NH32|TFCP2L2 MIM:609786|HGNC:HGNC:17923|Ensembl:ENSG00000134317|HPRD:18176|Vega:OTTHUMG00000151704 2 2p25.1 grainyhead-like 1 (Drosophila) protein-coding GRHL1 grainyhead-like 1 (Drosophila) O LBP protein 32|grainyhead-like protein 1 homolog|mammalian grainyhead|transcription factor CP2-like 2|transcription factor LBP-32 20141207 9606 29880 ALG5 HSPC149 bA421P11.2 MIM:604565|HGNC:HGNC:20266|Ensembl:ENSG00000120697|HPRD:05193|Vega:OTTHUMG00000016741 13 13q13.3 ALG5, dolichyl-phosphate beta-glucosyltransferase protein-coding ALG5 ALG5, dolichyl-phosphate beta-glucosyltransferase O Alg5, S. cerevisiae, homolog of|asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase)|asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)|asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog|asparagine-linked glycosylation protein 5 homolog|dolP-glucosyltransferase|dolichyl phosphate glucosyltransferase|dolichyl-phosphate beta-glucosyltransferase 20141207 9606 29883 CNOT7 - CAF1|Caf1a|hCAF-1 MIM:604913|HGNC:HGNC:14101|Ensembl:ENSG00000198791|Vega:OTTHUMG00000096971 8 8p22-p21.3 CCR4-NOT transcription complex, subunit 7 protein-coding CNOT7 CCR4-NOT transcription complex, subunit 7 O BTG1 binding factor 1|BTG1-binding factor 1|CAF-1|CCR4-NOT transcription complex subunit 7|CCR4-associated factor 1|carbon catabolite repressor protein (CCR4)-associative factor 1 20141207 9606 29920 PYCR2 RP4-559A3.4 P5CR2 HGNC:HGNC:30262|Ensembl:ENSG00000143811|HPRD:17939|Vega:OTTHUMG00000037506 1 1q42.12 pyrroline-5-carboxylate reductase family, member 2 protein-coding PYCR2 pyrroline-5-carboxylate reductase family, member 2 O P5C reductase 2|pyrroline 5-carboxylate reductase isoform|pyrroline-5-carboxylate reductase 2 20141207 9606 29922 NME7 - CFAP67|MN23H7|NDK 7|NDK7|nm23-H7 MIM:613465|HGNC:HGNC:20461|Ensembl:ENSG00000143156|HPRD:11394|Vega:OTTHUMG00000034586 1 1q24 NME/NM23 family member 7 protein-coding NME7 NME/NM23 family member 7 O NDP kinase 7|cilia and flagella associated protein 67|non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)|nucleoside diphosphate kinase 7|nucleoside-diphosphate kinase 7 20141207 9606 29925 GMPPB - MDDGA14|MDDGB14|MDDGC14 MIM:615320|HGNC:HGNC:22932|Ensembl:ENSG00000173540|HPRD:13589|Vega:OTTHUMG00000158151 3 3p21.31 GDP-mannose pyrophosphorylase B protein-coding GMPPB GDP-mannose pyrophosphorylase B O GTP-mannose-1-phosphate guanylyltransferase beta|mannose-1-phosphate guanyltransferase beta 20141207 9606 29926 GMPPA - AAMR MIM:615495|HGNC:HGNC:22923|Ensembl:ENSG00000144591|HPRD:13588|Vega:OTTHUMG00000058922 2 2q35 GDP-mannose pyrophosphorylase A protein-coding GMPPA GDP-mannose pyrophosphorylase A O GMPP-alpha|GTP-mannose-1-phosphate guanylyltransferase alpha|mannose-1-phosphate guanyltransferase alpha|mannose-1-phosphate guanylyltransferase (GDP) 20141219 9606 29927 SEC61A1 - HSEC61|SEC61|SEC61A MIM:609213|HGNC:HGNC:18276|Ensembl:ENSG00000058262|HPRD:15316|Vega:OTTHUMG00000159624 3 3q21.3 Sec61 alpha 1 subunit (S. cerevisiae) protein-coding SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae) O Sec61 alpha-1|protein transport protein SEC61 alpha subunit|protein transport protein Sec61 subunit alpha|protein transport protein Sec61 subunit alpha isoform 1|sec61 homolog 20141207 9606 29928 TIMM22 - TEX4|TIM22 MIM:607251|HGNC:HGNC:17317|HPRD:06262 17 17p13 translocase of inner mitochondrial membrane 22 homolog (yeast) protein-coding TIMM22 translocase of inner mitochondrial membrane 22 homolog (yeast) O mitochondrial import inner membrane translocase subunit Tim22|putative membrane protein|testis-expressed sequence 4 20141207 9606 29929 ALG6 My046 CDG1C MIM:604566|HGNC:HGNC:23157|Ensembl:ENSG00000088035|HPRD:05194|Vega:OTTHUMG00000009140 1 1p31.3 ALG6, alpha-1,3-glucosyltransferase protein-coding ALG6 ALG6, alpha-1,3-glucosyltransferase O Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase|asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog|asparagine-linked glycosylation protein 6 homolog|dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase|dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase|dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase|dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase|dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase 20141219 9606 29940 DSE - DSEP|DSEPI|EDSMC2|SART-2|SART2 MIM:605942|HGNC:HGNC:21144|Ensembl:ENSG00000111817|HPRD:05807|Vega:OTTHUMG00000015434 6 6q22 dermatan sulfate epimerase protein-coding DSE dermatan sulfate epimerase O DS epimerase|chondroitin-glucuronate 5-epimerase|dermatan-sulfate epimerase|squamous cell carcinoma antigen recognized by T-cells 2 20141207 9606 29947 DNMT3L - - MIM:606588|HGNC:HGNC:2980|Ensembl:ENSG00000142182|HPRD:09417|Vega:OTTHUMG00000086914 21 21q22.3 DNA (cytosine-5-)-methyltransferase 3-like protein-coding DNMT3L DNA (cytosine-5-)-methyltransferase 3-like O DNA (cytosine-5)-methyltransferase 3-like|cytosine-5-methyltransferase 3-like protein|human cytosine-5-methyltransferase 3-like protein 20141207 9606 29956 CERS2 RP11-316M1.2 L3|LASS2|SP260|TMSG1 MIM:606920|HGNC:HGNC:14076|Ensembl:ENSG00000143418|HPRD:06080|Vega:OTTHUMG00000035064 1 1q21.3 ceramide synthase 2 protein-coding CERS2 ceramide synthase 2 O LAG1 homolog, ceramide synthase 2|LAG1 longevity assurance 2|longevity assurance (LAG1, S. cerevisiae) homolog 2|tumor metastasis-suppressor gene 1 protein 20141207 9606 29958 DMGDH - DMGDHD|ME2GLYDH MIM:605849|HGNC:HGNC:24475|Ensembl:ENSG00000132837|HPRD:05789|Vega:OTTHUMG00000108159 5 5q14.1 dimethylglycine dehydrogenase protein-coding DMGDH dimethylglycine dehydrogenase O dimethylglycine dehydrogenase, mitochondrial 20141211 9606 29968 PSAT1 - EPIP|NLS2|PSA|PSAT|PSATD MIM:610936|HGNC:HGNC:19129|Ensembl:ENSG00000135069|HPRD:17918|Vega:OTTHUMG00000020066 9 9q21.2 phosphoserine aminotransferase 1 protein-coding PSAT1 phosphoserine aminotransferase 1 O endometrial progesterone-induced protein|phosphohydroxythreonine aminotransferase|phosphoserine aminotransferase 20141207 9606 30814 PLA2G2E - GIIE sPLA2|sPLA2-IIE HGNC:HGNC:13414|HPRD:07143 1 1p36.13 phospholipase A2, group IIE protein-coding PLA2G2E phospholipase A2, group IIE O group IIE secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 2E 20141207 9606 30833 NT5C - DNT|DNT1|HEL74|P5N2|PN-I|PN-II|UMPH2|cdN|dNT-1 MIM:191720|HGNC:HGNC:17144|Ensembl:ENSG00000125458|HPRD:11833|Vega:OTTHUMG00000179346 17 17q25.1 5', 3'-nucleotidase, cytosolic protein-coding NT5C 5', 3'-nucleotidase, cytosolic O 5' nucleotidase, deoxy (pyrimidine), cytosolic type C|5'(3')-deoxyribonucleotidase, cytosolic type|cytosolic 5',3'-pyrimidine nucleotidase|deoxy-5'-nucleotidase 1|epididymis luminal protein 74|uridine 5'-monophosphate phosphohydrolase 2|uridine 5-prime monophosphate hydrolase 2 20141207 9606 30834 ZNRD1 DAAP-65D20.6 HTEX-6|HTEX6|Rpa12|TCTEX6|TEX6|ZR14|hZR14|tctex-6 MIM:607525|HGNC:HGNC:13182|Ensembl:ENSG00000066379|HPRD:09601|Vega:OTTHUMG00000031149 6 6p21.3 zinc ribbon domain containing 1 protein-coding ZNRD1 zinc ribbon domain containing 1 O DNA-directed RNA polymerase I subunit RPA12|RNA polymerase I small specific subunit Rpa12|transcription-associated zinc ribbon protein 20141222 9606 30849 PIK3R4 - VPS15|p150 MIM:602610|HGNC:HGNC:8982|Ensembl:ENSG00000196455|HPRD:04010|Vega:OTTHUMG00000159645 3 3q22.1 phosphoinositide-3-kinase, regulatory subunit 4 protein-coding PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4 O PI3-kinase p150 subunit|PI3-kinase regulatory subunit 4|phosphatidylinositol 3-kinase-associated p150|phosphoinositide 3-kinase adaptor protein|phosphoinositide 3-kinase regulatory subunit 4|phosphoinositide-3-kinase, regulatory subunit 4, p150 20141207 9606 50484 RRM2B - MTDPS8A|MTDPS8B|P53R2 MIM:604712|HGNC:HGNC:17296|Ensembl:ENSG00000048392|HPRD:05276|Vega:OTTHUMG00000164776 8 8q23.1 ribonucleotide reductase M2 B (TP53 inducible) protein-coding RRM2B ribonucleotide reductase M2 B (TP53 inducible) O TP53-inducible ribonucleotide reductase M2 B|p53-inducible ribonucleotide reductase small subunit 2 homolog|p53-inducible ribonucleotide reductase small subunit 2 short form beta|p53-inducible ribonucleotide reductase small subunit 2-like protein|ribonucleoside-diphosphate reductase subunit M2 B 20141207 9606 50486 G0S2 RP1-28O10.2 - MIM:614447|HGNC:HGNC:30229|Ensembl:ENSG00000123689|HPRD:09968|Vega:OTTHUMG00000036479 1 1q32.2 G0/G1 switch 2 protein-coding G0S2 G0/G1 switch 2 O G0/G1 switch protein 2|G0/G1 switch regulatory protein 2|G0/G1switch 2 20141207 9606 50487 PLA2G3 - GIII-SPLA2|SPLA2III|sPLA2-III MIM:611651|HGNC:HGNC:17934|Ensembl:ENSG00000100078|HPRD:07144|Vega:OTTHUMG00000151255 22 22q12.2 phospholipase A2, group III protein-coding PLA2G3 phospholipase A2, group III O group 3 secretory phospholipase A2|group III secreted phospholipase A2|phosphatidylcholine 2-acylhydrolase 3|phosphatidylcholine 2-acylhydrolase GIII 20141207 9606 50515 CHST11 - C4ST|C4ST-1|C4ST1|HSA269537 MIM:610128|HGNC:HGNC:17422|Ensembl:ENSG00000171310|HPRD:13055|Vega:OTTHUMG00000169803 12 12q carbohydrate (chondroitin 4) sulfotransferase 11 protein-coding CHST11 carbohydrate (chondroitin 4) sulfotransferase 11 O C4S-1|IgH/CHST11 fusion|carbohydrate sulfotransferase 11|chondroitin 4-O-sulfotransferase 1 20141207 9606 50614 GALNT9 - GALNAC-T9|GALNACT9 MIM:606251|HGNC:HGNC:4131|Ensembl:ENSG00000182870|Vega:OTTHUMG00000168256 12 12q24.33 polypeptide N-acetylgalactosaminyltransferase 9 protein-coding GALNT9 polypeptide N-acetylgalactosaminyltransferase 9 O GalNAc transferase 9|UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 9|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 9|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)|polypeptide GalNAc transferase 9|pp-GaNTase 9|protein-UDP acetylgalactosaminyltransferase 9 20141207 9606 50628 GEMIN4 - HC56|HCAP1|HHRF-1|p97 MIM:606969|HGNC:HGNC:15717|Ensembl:ENSG00000179409|HPRD:07370|Vega:OTTHUMG00000177495 17 17p13 gem (nuclear organelle) associated protein 4 protein-coding GEMIN4 gem (nuclear organelle) associated protein 4 O HCC-associated protein 1|component of gems 4|gem-associated protein 4|gemin-4 20141207 9606 50640 PNPLA8 BM-043 IPLA2(GAMMA)|IPLA2-2|IPLA2G|iPLA2gamma MIM:612123|HGNC:HGNC:28900|Ensembl:ENSG00000135241|HPRD:13741|Vega:OTTHUMG00000154870 7 7q31 patatin-like phospholipase domain containing 8 protein-coding PNPLA8 patatin-like phospholipase domain containing 8 O PNPLA-gamma|calcium-independent phospholipase A2-gamma|iPLA2 gamma|iPLA2-gamma|intracellular membrane-associated calcium-independent phospholipase A2 gamma|membrane-associated calcium-independent phospholipase A2 gamma|patatin-like phospholipase domain-containing protein 8 20141207 9606 50700 RDH8 - PRRDH|SDR28C2 MIM:608575|HGNC:HGNC:14423|Ensembl:ENSG00000080511|HPRD:16350|Vega:OTTHUMG00000180392 19 19p13.2 retinol dehydrogenase 8 (all-trans) protein-coding RDH8 retinol dehydrogenase 8 (all-trans) O photoreceptor outer segment all-trans retinol dehydrogenase|retinol dehydrogenase 8|short chain dehydrogenase/reductase family 28C, member 2 20141207 9606 50808 AK3 RP11-6J24.4 AK3L1|AK6|AKL3L|AKL3L1|FIX MIM:609290|HGNC:HGNC:17376|Ensembl:ENSG00000147853|HPRD:12439 9 9p24.1 adenylate kinase 3 protein-coding AK3 adenylate kinase 3 O GTP:AMP phosphotransferase AK3, mitochondrial|GTP:AMP phosphotransferase, mitochondrial|adenylate kinase 3 alpha-like 1|adenylate kinase 6, adenylate kinase 3 like 1 20141207 9606 50814 NSDHL - H105E3|SDR31E1|XAP104 MIM:300275|HGNC:HGNC:13398|Ensembl:ENSG00000147383|HPRD:02229|Vega:OTTHUMG00000024185 X Xq28 NAD(P) dependent steroid dehydrogenase-like protein-coding NSDHL NAD(P) dependent steroid dehydrogenase-like O protein H105e3|short chain dehydrogenase/reductase family 31E, member 1|sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating 20141219 9606 50940 PDE11A - PPNAD2 MIM:604961|HGNC:HGNC:8773|Ensembl:ENSG00000128655|HPRD:05391|Vega:OTTHUMG00000154188 2 2q31.2 phosphodiesterase 11A protein-coding PDE11A phosphodiesterase 11A O cAMP and cGMP cyclic nucleotide phosphodiesterase 11A|dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A 20141207 9606 51003 MED31 CGI-125 3110004H13Rik|Soh1 HGNC:HGNC:24260|Ensembl:ENSG00000108590|HPRD:14382|Vega:OTTHUMG00000102051 17 17p13.1 mediator complex subunit 31 protein-coding MED31 mediator complex subunit 31 O hSOH1|mediator complex subunit SOH1|mediator of RNA polymerase II transcription subunit 31|mediator of RNA polymerase II transcription, subunit 31 homolog 20141207 9606 51005 AMDHD2 CGI-14 - HGNC:HGNC:24262|Ensembl:ENSG00000162066|HPRD:13034|Vega:OTTHUMG00000128866 16 16p13.3 amidohydrolase domain containing 2 protein-coding AMDHD2 amidohydrolase domain containing 2 O amidohydrolase domain-containing protein 2|glcNAc 6-P deacetylase|putative N-acetylglucosamine-6-phosphate deacetylase 20141207 9606 51010 EXOSC3 CGI-102 PCH1B|RRP40|Rrp40p|bA3J10.7|hRrp-40|p10 MIM:606489|HGNC:HGNC:17944|Ensembl:ENSG00000107371|HPRD:16220|Vega:OTTHUMG00000019932 9 9p11 exosome component 3 protein-coding EXOSC3 exosome component 3 O exosome complex component RRP40|exosome complex exonuclease RRP40|ribosomal RNA-processing protein 40 20141207 9606 51013 EXOSC1 RP11-452K12.9 CGI-108|CSL4|Csl4p|SKI4|Ski4p|hCsl4p|p13 MIM:606493|HGNC:HGNC:17286|HPRD:16223 10 10q24 exosome component 1 protein-coding EXOSC1 exosome component 1 O 3'-5' exoribonuclease CSL4 homolog|CSL4 exosomal core protein homolog|exosomal core protein CSL4|exosome complex component CSL4|homolog of yeast exosomal core protein CSL4 20141207 9606 51025 PAM16 CGI-136 MAGMAS|TIM16|TIMM16 MIM:614336|HGNC:HGNC:29679|Ensembl:ENSG00000217930|HPRD:14798|Vega:OTTHUMG00000129466 16 16p13.3 presequence translocase-associated motor 16 homolog (S. cerevisiae) protein-coding PAM16 presequence translocase-associated motor 16 homolog (S. cerevisiae) O magmas-like protein|mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction|mitochondria-associated granulocyte macrophage CSF-signaling molecule|mitochondrial import inner membrane translocase subunit TIM16 20141207 9606 51046 ST8SIA3 - SIAT8C|ST8SiaIII MIM:609478|HGNC:HGNC:14269|Ensembl:ENSG00000177511|HPRD:15343|Vega:OTTHUMG00000180101 18 18q21.31 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 protein-coding ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 O SIAT8-C|alpha-2,8-sialyltransferase 8C|alpha-2,8-sialyltransferase III|sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase|sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)|sialyltransferase St8Sia III|sialytransferase St8Sia III 20141207 9606 51056 LAP3 - HEL-S-106|LAP|LAPEP|PEPS MIM:170250|HGNC:HGNC:18449|Ensembl:ENSG00000002549|HPRD:07516|Vega:OTTHUMG00000048214 4 4p15.32 leucine aminopeptidase 3 protein-coding LAP3 leucine aminopeptidase 3 O LAP-3|cytosol aminopeptidase|epididymis secretory protein Li 106|leucyl aminopeptidase|peptidase S|proline aminopeptidase|prolyl aminopeptidase 20141222 9606 51060 TXNDC12 UNQ713/PRO1376 AG1|AGR1|ERP16|ERP18|ERP19|PDIA16|TLP19|hAG-1|hTLP19 MIM:609448|HGNC:HGNC:24626|Ensembl:ENSG00000117862|HPRD:11633|Vega:OTTHUMG00000008629 1 1p32.3 thioredoxin domain containing 12 (endoplasmic reticulum) protein-coding TXNDC12 thioredoxin domain containing 12 (endoplasmic reticulum) O ER protein 18|ER protein 19|anterior gradient homolog 1|endoplasmic reticulum protein ERp19|endoplasmic reticulum resident protein 18|endoplasmic reticulum resident protein 19|endoplasmic reticulum thioredoxin superfamily member, 18 kDa|protein disulfide isomerase family A, member 16|thioredoxin domain-containing protein 12|thioredoxin-like protein p19 20141207 9606 51074 APIP CGI-29 APIP2|CGI29|MMRP19|hAPIP MIM:612491|HGNC:HGNC:17581|Ensembl:ENSG00000149089|HPRD:14725|Vega:OTTHUMG00000166455 11 11p13 APAF1 interacting protein protein-coding APIP APAF1 interacting protein O APAF1-interacting protein|MTRu-1-P dehydratase|methylthioribulose-1-phosphate dehydratase|probable methylthioribulose-1-phosphate dehydratase 20141207 9606 51082 POLR1D - AC19|POLR1C|RPA16|RPA9|RPAC2|RPC16|RPO1-3|TCS2 MIM:613715|HGNC:HGNC:20422|Ensembl:ENSG00000186184|HPRD:14717|HPRD:17877|Vega:OTTHUMG00000016635 13 13q12.2 polymerase (RNA) I polypeptide D, 16kDa protein-coding POLR1D polymerase (RNA) I polypeptide D, 16kDa O DNA-directed RNA polymerase I subunit D|DNA-directed RNA polymerases I and III subunit RPAC2|RNA polymerases I and III subunit AC2 20141219 9606 51085 MLXIPL - CHREBP|MIO|MONDOB|WBSCR14|WS-bHLH|bHLHd14 MIM:605678|HGNC:HGNC:12744|Ensembl:ENSG00000009950|HPRD:12033|Vega:OTTHUMG00000129995 7 7q11.23 MLX interacting protein-like protein-coding MLXIPL MLX interacting protein-like O MLX-interacting protein-like|Mlx interactor|WS basic-helix-loop-helix leucine zipper protein|Williams Beuren syndrome chromosome region 14|Williams-Beuren syndrome chromosome region 14 protein 1|Williams-Beuren syndrome chromosome region 14 protein 2|carbohydrate response element binding protein|carbohydrate-responsive element-binding protein|class D basic helix-loop-helix protein 14|williams-Beuren syndrome chromosomal region 14 protein 20141207 9606 51099 ABHD5 CGI-58 CDS|CGI58|IECN2|NCIE2 MIM:604780|HGNC:HGNC:21396|HPRD:05308|HPRD:11986 3 3p21 abhydrolase domain containing 5 protein-coding ABHD5 abhydrolase domain containing 5 O 1-acylglycerol-3-phosphate O-acyltransferase ABHD5|abhydrolase domain-containing protein 5|lipid droplet-binding protein CGI-58 20141207 9606 51109 RDH11 CGI-82 ARSDR1|CGI82|HCBP12|MDT1|PSDR1|RALR1|RDJCSS|SCALD|SDR7C1 MIM:607849|HGNC:HGNC:17964|Ensembl:ENSG00000072042|HPRD:09707|Vega:OTTHUMG00000171196 14 14q24.1 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) protein-coding RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) O HCV core-binding protein HCBP12|androgen-regulated short-chain dehydrogenase/reductase 1|prostate short-chain dehydrogenase reductase 1|prostate short-chain dehydrogenase/reductase 1|retinal reductase 1|retinol dehydrogenase 11|short chain dehydrogenase/reductase family 7C, member 1 20141207 9606 51121 RPL26L1 - RPL26P1 HGNC:HGNC:17050|Ensembl:ENSG00000037241|HPRD:17993|Vega:OTTHUMG00000130517 5 5q35.1 ribosomal protein L26-like 1 protein-coding RPL26L1 ribosomal protein L26-like 1 O 60S ribosomal protein L26-like 1|ribosomal protein L26 homolog|ribosomal protein L26 pseudogene 1 20141207 9606 51128 SAR1B - ANDD|CMRD|GTBPB|SARA2 MIM:607690|HGNC:HGNC:10535|Ensembl:ENSG00000152700|HPRD:09647|Vega:OTTHUMG00000129114 5 5q31.1 secretion associated, Ras related GTPase 1B protein-coding SAR1B secretion associated, Ras related GTPase 1B O 2310075M17Rik|GTP-binding protein B|GTP-binding protein SAR1b|GTP-binding protein Sara|SAR1 homolog B|SAR1a gene homolog 2 20141207 9606 51129 ANGPTL4 PP1158 ANGPTL2|ARP4|FIAF|HARP|HFARP|NL2|PGAR|TGQTL|UNQ171|pp1158 MIM:605910|HGNC:HGNC:16039|Ensembl:ENSG00000167772|HPRD:16173|Vega:OTTHUMG00000182273 19 19p13.3 angiopoietin-like 4 protein-coding ANGPTL4 angiopoietin-like 4 O PPARG angiopoietin related protein|angiopoietin-related protein 4|fasting-induced adipose factor|hepatic angiopoietin-related protein|hepatic fibrinogen/angiopoietin-related protein|peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein 20141207 9606 51144 HSD17B12 - KAR|SDR12C1 MIM:609574|HGNC:HGNC:18646|Ensembl:ENSG00000149084|HPRD:09989|Vega:OTTHUMG00000166403 11 11p11.2 hydroxysteroid (17-beta) dehydrogenase 12 protein-coding HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12 O 17-beta-HSD 12|17-beta-hydroxysteroid dehydrogenase 12|17beta-HSD type 12|3-ketoacyl-CoA reductase|estradiol 17-beta-dehydrogenase 12|short chain dehydrogenase/reductase family 12C, member 1|steroid dehydrogenase homolog 20141215 9606 51166 AADAT - KAT2|KATII MIM:611754|HGNC:HGNC:17929|Ensembl:ENSG00000109576|HPRD:12392|Vega:OTTHUMG00000160912 4 4q33 aminoadipate aminotransferase protein-coding AADAT aminoadipate aminotransferase O 2-aminoadipate aminotransferase|2-aminoadipate transaminase|KAT/AadAT|L kynurenine/alpha aminoadipate aminotransferase|alpha-aminoadipate aminotransferase|kynurenine aminotransferase II|kynurenine--oxoglutarate aminotransferase II|kynurenine--oxoglutarate transaminase 2|kynurenine--oxoglutarate transaminase II|kynurenine/alpha-aminoadipate aminotransferase, mitochondrial 20141207 9606 51179 HAO2 RP5-871G17.1 GIG16|HAOX2 MIM:605176|HGNC:HGNC:4810|Ensembl:ENSG00000116882|HPRD:05532|Vega:OTTHUMG00000012410 1 1p13.3-p13.1 hydroxyacid oxidase 2 (long chain) protein-coding HAO2 hydroxyacid oxidase 2 (long chain) O (S)-2-hydroxy-acid oxidase, peroxisomal|cell growth-inhibiting gene 16 protein|glycolate oxidase|hydroxyacid oxidase 2|long chain alpha-hydroxy acid oxidase|long-chain L-2-hydroxy acid oxidase 20141211 9606 51196 PLCE1 RP11-76P2.1 NPHS3|PLCE|PPLC MIM:608414|HGNC:HGNC:17175|Ensembl:ENSG00000138193|HPRD:07087|Vega:OTTHUMG00000018789 10 10q23 phospholipase C, epsilon 1 protein-coding PLCE1 phospholipase C, epsilon 1 O 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1|PLC-epsilon-1|pancreas-enriched phospholipase C|phosphoinositide phospholipase C-epsilon-1|phosphoinositide-specific phospholipase C epsilon-1 20141207 9606 51205 ACP6 UNQ205/PRO231 ACPL1|LPAP|PACPL1 MIM:611471|HGNC:HGNC:29609|HPRD:16472 1 1q21 acid phosphatase 6, lysophosphatidic protein-coding ACP6 acid phosphatase 6, lysophosphatidic O acid phosphatase like 1|acid phosphatase-like protein 1|lysophosphatidic acid phosphatase 6|lysophosphatidic acid phosphatase type 6 20141207 9606 51227 PIGP NPD010 DCRC|DCRC-S|DSCR5|DSRC MIM:605938|HGNC:HGNC:3046|Ensembl:ENSG00000185808|HPRD:05806|Vega:OTTHUMG00000086653 21 21q22.2 phosphatidylinositol glycan anchor biosynthesis, class P protein-coding PIGP phosphatidylinositol glycan anchor biosynthesis, class P O Down syndrome critical region gene 5|Down syndrome critical region protein 5|Down syndrome critical region protein C|PIG-P|phosphatidylinositol N-acetylglucosaminyltransferase subunit P|phosphatidylinositol glycan, class P|phosphatidylinositol-glycan biosynthesis class P protein|phosphatidylinositol-n-acetylglucosaminyltranferase subunit 20141207 9606 51251 NT5C3A HSPC233 NT5C3|P5'N-1|P5N-1|PN-I|POMP|PSN1|UMPH|UMPH1|cN-III|hUMP1|p36 MIM:606224|HGNC:HGNC:17820|Ensembl:ENSG00000122643|HPRD:05871|Vega:OTTHUMG00000152983 7 7p14.3 5'-nucleotidase, cytosolic IIIA protein-coding NT5C3A 5'-nucleotidase, cytosolic IIIA O 5'-nucleotidase, cytosolic III|cytosolic 5'-nucleotidase 3|cytosolic 5'-nucleotidase 3A|lupin|pyrimidine 5'-nucleotidase 1|uridine 5'-monophosphate hydrolase 1 20141207 9606 51268 PIPOX - LPIPOX HGNC:HGNC:17804|Ensembl:ENSG00000179761|HPRD:17853|Vega:OTTHUMG00000132679 17 17q11.2 pipecolic acid oxidase protein-coding PIPOX pipecolic acid oxidase O L-pipecolate oxidase|L-pipecolic acid oxidase|PSO|peroxisomal sarcosine oxidase 20141207 9606 51292 GMPR2 - - MIM:610781|HGNC:HGNC:4377|Ensembl:ENSG00000100938|HPRD:13590|Vega:OTTHUMG00000171912 14 14q12 guanosine monophosphate reductase 2 protein-coding GMPR2 guanosine monophosphate reductase 2 O GMP reductase 2|guanosine 5'-monophosphate oxidoreductase 2|guanosine monophosphate reductase isolog 20141207 9606 51301 GCNT4 - C2GNT3 HGNC:HGNC:17973|HPRD:16651 5 5q12 glucosaminyl (N-acetyl) transferase 4, core 2 protein-coding GCNT4 glucosaminyl (N-acetyl) transferase 4, core 2 O beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4|core 2 beta-1,6-N-acetylglucosaminyltransferase 3|core 2-branching enzyme 3|core2-GlcNAc-transferase 3|glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase) 20141207 9606 51363 CHST15 RP11-47G11.1 BRAG|GALNAC4S-6ST MIM:608277|HGNC:HGNC:18137|Ensembl:ENSG00000182022|HPRD:12203|Vega:OTTHUMG00000019208 10 10q26 carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 protein-coding CHST15 carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 O B cell RAG associated protein (GALNAC4S-6ST)|B-cell RAG-associated gene protein|carbohydrate sulfotransferase 15|hBRAG 20141207 9606 51380 CSAD - CSD|PCAP HGNC:HGNC:18966|Ensembl:ENSG00000139631|HPRD:16763|Vega:OTTHUMG00000048076 12 12q13.11-q14.3 cysteine sulfinic acid decarboxylase protein-coding CSAD cysteine sulfinic acid decarboxylase O P-selectin cytoplasmic tail-associated protein|cysteine sulfinic acid decarboxylase-related protein|cysteine-sulfinate decarboxylase|sulfinoalanine decarboxylase 20141207 9606 51409 HEMK1 - HEMK|MTQ1 HGNC:HGNC:24923|Ensembl:ENSG00000114735|HPRD:13645|Vega:OTTHUMG00000156849 3 3p21.3 HemK methyltransferase family member 1 protein-coding HEMK1 HemK methyltransferase family member 1 O HEMK homolog 7kb|hemK methyltransferase family member 1|m.HsaHemKP 20141207 9606 51422 PRKAG2 - AAKG|AAKG2|CMH6|H91620p|WPWS MIM:602743|HGNC:HGNC:9386|Ensembl:ENSG00000106617|HPRD:04119|Vega:OTTHUMG00000157324 7 7q36.1 protein kinase, AMP-activated, gamma 2 non-catalytic subunit protein-coding PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit O 5'-AMP-activated protein kinase subunit gamma-2|AMPK subunit gamma-2|hypothetical protein 20141207 9606 51451 LCMT1 CGI-68 LCMT|PPMT1 MIM:610286|HGNC:HGNC:17557|Ensembl:ENSG00000205629|HPRD:17266|Vega:OTTHUMG00000177182 16 16p12.1 leucine carboxyl methyltransferase 1 protein-coding LCMT1 leucine carboxyl methyltransferase 1 O [Phosphatase 2A protein]-leucine-carboxy methyltransferase 1|protein phosphatase methyltransferase 1|protein-leucine O-methyltransferase 20141207 9606 51477 ISYNA1 - INO1|INOS|IPS|IPS 1|IPS-1 MIM:611670|HGNC:HGNC:29821|Ensembl:ENSG00000105655|HPRD:17163|Vega:OTTHUMG00000179027 19 19p13.11 inositol-3-phosphate synthase 1 protein-coding ISYNA1 inositol-3-phosphate synthase 1 O MI-1-P synthase|MIP synthase|myo-inositol 1-phosphate synthase A1 20141211 9606 51478 HSD17B7 RP11-331H2.1 PRAP|SDR37C1 MIM:606756|HGNC:HGNC:5215|HPRD:05996 1 1q23 hydroxysteroid (17-beta) dehydrogenase 7 protein-coding HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7 O 17 beta-hydroxysteroid dehydrogenase type VII|17-beta-HSD 7|17-beta-hydroxysteroid dehydrogenase 7|17beta hydroxysteroid dehydrogenase|3-keto-steroid reductase|estradiol 17-beta-dehydrogenase 7|short chain dehydrogenase/reductase family 37C, member 1 20141207 9606 51540 SCLY - SCL|hSCL MIM:611056|HGNC:HGNC:18161|Ensembl:ENSG00000132330|HPRD:15303|Vega:OTTHUMG00000133336 2 2q37.3 selenocysteine lyase protein-coding SCLY selenocysteine lyase O - 20141207 9606 51582 AZIN1 - AZI|AZIA1|OAZI|OAZIN|ODC1L MIM:607909|HGNC:HGNC:16432|Ensembl:ENSG00000155096|HPRD:07443|Vega:OTTHUMG00000164766 8 8q22.3 antizyme inhibitor 1 protein-coding AZIN1 antizyme inhibitor 1 O ornithine decarboxylase antizyme inhibitor 20141207 9606 51586 MED15 - ARC105|CAG7A|CTG7A|PCQAP|TIG-1|TIG1|TNRC7 MIM:607372|HGNC:HGNC:14248|Ensembl:ENSG00000099917|HPRD:12117|Vega:OTTHUMG00000150810 22 22q11.2 mediator complex subunit 15 protein-coding MED15 mediator complex subunit 15 O CTG repeat protein 7a|PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein|PC2 glutamine/Q-rich-associated protein|PC2-glutamine-rich-associated protein|TPA inducible gene-1|TPA inducible protein|TPA-inducible gene 1 protein|activator-recruited cofactor 105 kDa component|activator-recruited cofactor, 105-kD|mediator of RNA polymerase II transcription subunit 15|positive cofactor 2 glutamine/Q-rich-associated protein|positive cofactor 2, glutamine/Q-rich-associated protein|trinucleotide repeat containing 7|trinucleotide repeat-containing gene 7 protein 20141207 9606 51604 PIGT CGI-06 MCAHS3|NDAP|PNH2 MIM:610272|HGNC:HGNC:14938|Ensembl:ENSG00000124155|HPRD:15136|Vega:OTTHUMG00000032574 20 20q12-q13.12 phosphatidylinositol glycan anchor biosynthesis, class T protein-coding PIGT phosphatidylinositol glycan anchor biosynthesis, class T O GPI transamidase component PIG-T|GPI transamidase subunit|neurotrophin-regulated neuronal development-associated protein|phosphatidylinositol-glycan biosynthesis class T protein 20141207 9606 51686 OAZ3 RP11-98D18.13-004 AZ3|OAZ-t|TISP15 MIM:605138|HGNC:HGNC:8097|Ensembl:ENSG00000143450|HPRD:18670|Vega:OTTHUMG00000013061 1 1q21.3 ornithine decarboxylase antizyme 3 protein-coding OAZ3 ornithine decarboxylase antizyme 3 O ODC-Az 3|antizyme 3 20141216 9606 51703 ACSL5 RP11-324O2.5 ACS2|ACS5|FACL5 MIM:605677|HGNC:HGNC:16526|Ensembl:ENSG00000197142|HPRD:16139|Vega:OTTHUMG00000019060 10 10q25.1-q25.2 acyl-CoA synthetase long-chain family member 5 protein-coding ACSL5 acyl-CoA synthetase long-chain family member 5 O FACL5 for fatty acid coenzyme A ligase 5|LACS 5|fatty acid coenzyme A ligase 5|fatty-acid-Coenzyme A ligase, long-chain 5|long-chain acyl-CoA synthetase 5|long-chain fatty acid coenzyme A ligase 5|long-chain-fatty-acid--CoA ligase 5 20141207 9606 51727 CMPK1 RP11-511I2.1 CK|CMK|CMPK|UMK|UMP-CMPK|UMPK MIM:191710|HGNC:HGNC:18170|Ensembl:ENSG00000162368|HPRD:18258|Vega:OTTHUMG00000007849 1 1p32 cytidine monophosphate (UMP-CMP) kinase 1, cytosolic protein-coding CMPK1 cytidine monophosphate (UMP-CMP) kinase 1, cytosolic O CK|UMP-CMP kinase|UMP/CMP kinase|cytidylate kinase|dCMP kinase|deoxycytidylate kinase|nucleoside-diphosphate kinase|uridine monophosphate kinase|uridine monophosphate/cytidine monophosphate kinase 20141207 9606 51728 POLR3K My010 C11|C11-RNP3|RPC10|RPC11|RPC12.5 MIM:606007|HGNC:HGNC:14121|HPRD:16187 16 16p13.3 polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa protein-coding POLR3K polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa O DNA-directed RNA polymerase III subunit K|DNA-directed RNA polymerase III subunit RPC10|DNA-directed RNA polymerases III 12.5 kDa polypeptide|RNA polymerase III 12.5 kDa subunit|RNA polymerase III subunit C10|RNA polymerase III subunit C11|RNA polymerase III subunit CII 20141207 9606 51733 UPB1 - BUP1 MIM:606673|HGNC:HGNC:16297|Ensembl:ENSG00000100024|HPRD:09451|Vega:OTTHUMG00000150749 22 22q11.2 ureidopropionase, beta protein-coding UPB1 ureidopropionase, beta O beta-alanine synthase|beta-ureidopropionase|n-carbamoyl-beta-alanine amidohydrolase 20141217 9606 51763 INPP5K - PPS|SKIP MIM:607875|HGNC:HGNC:33882|Ensembl:ENSG00000132376|HPRD:08489|Vega:OTTHUMG00000150648 17 17p13.3 inositol polyphosphate-5-phosphatase K protein-coding INPP5K inositol polyphosphate-5-phosphatase K O inositol polyphosphate 5-phosphatase K|skeletal muscle and kidney-enriched inositol phosphatase 20141207 9606 51764 GNG13 - G(gamma)13|h2-35 MIM:607298|HGNC:HGNC:14131|Ensembl:ENSG00000127588|HPRD:12116|Vega:OTTHUMG00000047839 16 16p13.3 guanine nucleotide binding protein (G protein), gamma 13 protein-coding GNG13 guanine nucleotide binding protein (G protein), gamma 13 O G gamma subunit, clone:h2-35|guanine nucleotide binding protein 13, gamma|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 20141207 9606 51808 PHAX - RNUXA MIM:604924|HGNC:HGNC:10241|Ensembl:ENSG00000164902|HPRD:15122|Vega:OTTHUMG00000163273 5 5q23.2 phosphorylated adaptor for RNA export protein-coding PHAX phosphorylated adaptor for RNA export O RNA U small nuclear RNA export adapter protein|RNA U, small nuclear RNA export adapter (phosphorylation regulated)|RNA U, small nuclear RNA export adaptor (phosphorylation regulated)|phosphorylated adapter RNA export protein 20141207 9606 51809 GALNT7 - GALNAC-T7|GalNAcT7 MIM:605005|HGNC:HGNC:4129|Ensembl:ENSG00000109586|HPRD:10386|Vega:OTTHUMG00000160817 4 4q31.1 polypeptide N-acetylgalactosaminyltransferase 7 protein-coding GALNT7 polypeptide N-acetylgalactosaminyltransferase 7 O N-acetylgalactosaminyltransferase 7|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)|polypeptide GalNAc transferase 7|pp-GaNTase 7|protein-UDP acetylgalactosaminyltransferase 7 20141207 9606 53343 NUDT9 PSEC0099 NUDT10 MIM:606022|HGNC:HGNC:8056|Ensembl:ENSG00000170502|HPRD:09353|Vega:OTTHUMG00000130591 4 4q22.1 nudix (nucleoside diphosphate linked moiety X)-type motif 9 protein-coding NUDT9 nudix (nucleoside diphosphate linked moiety X)-type motif 9 O ADP-ribose diphosphatase|ADP-ribose phosphohydrolase|ADP-ribose pyrophosphatase, mitochondrial|ADP-ribose pyrosphosphatase NUDT9|ADPR-PPase|adenosine diphosphoribose pyrophosphatase|nucleoside diphosphate linked moiety X-type motif 9 20141207 9606 53354 PANK1 - PANK MIM:606160|HGNC:HGNC:8598|Ensembl:ENSG00000152782|HPRD:07549 10 10q23.31 pantothenate kinase 1 protein-coding PANK1 pantothenate kinase 1 O pantothenic acid kinase 1 20141207 9606 53371 NUP54 - - MIM:607607|HGNC:HGNC:17359|Ensembl:ENSG00000138750|HPRD:06352|Vega:OTTHUMG00000130098 4 4q21.1 nucleoporin 54kDa protein-coding NUP54 nucleoporin 54kDa O 54 kDa nucleoporin|nucleoporin 54kD|nucleoporin p54 20141207 9606 54107 POLE3 - CHARAC17|CHRAC17|YBL1|p17 MIM:607267|HGNC:HGNC:13546|Ensembl:ENSG00000148229|HPRD:06274|Vega:OTTHUMG00000020523 9 9q33 polymerase (DNA directed), epsilon 3, accessory subunit protein-coding POLE3 polymerase (DNA directed), epsilon 3, accessory subunit O CHRAC-17|DNA polymerase II subunit 3|DNA polymerase epsilon p17 subunit|DNA polymerase epsilon subunit 3|DNA polymerase epsilon subunit p17|arsenic transactivated protein|arsenic-transactivated protein|asTP|chromatin accessibility complex 17 kDa protein|histone fold protein CHRAC17|huCHRAC17|polymerase (DNA directed), epsilon 3 (p17 subunit) 20141207 9606 54187 NANS RP11-404F11.3 HEL-S-100|SAS MIM:605202|HGNC:HGNC:19237|Ensembl:ENSG00000095380|HPRD:07285|Vega:OTTHUMG00000020341 9 9p24.1-p23 N-acetylneuraminic acid synthase protein-coding NANS N-acetylneuraminic acid synthase O N-acetylneuraminate synthase|N-acetylneuraminate-9-phosphate synthase|N-acetylneuraminic acid phosphate synthase|epididymis secretory protein Li 100|sialic acid phosphate synthase|sialic acid synthase 20141207 9606 54331 GNG2 - - MIM:606981|HGNC:HGNC:4404|Ensembl:ENSG00000186469|HPRD:16234|Vega:OTTHUMG00000171083 14 14q21 guanine nucleotide binding protein (G protein), gamma 2 protein-coding GNG2 guanine nucleotide binding protein (G protein), gamma 2 O g gamma-I|guanine nucleotide binding protein gamma 2|guanine nucleotide-binding protein G(I)/G(O) gamma-2 subunit|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 20141207 9606 54344 DPM3 RP11-540D14.7 CDG1O MIM:605951|HGNC:HGNC:3007|Ensembl:ENSG00000179085|HPRD:16179|Vega:OTTHUMG00000035335 1 1q22 dolichyl-phosphate mannosyltransferase polypeptide 3 protein-coding DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 O DPM synthase complex subunit 3|DPM synthase subunit 3|MPD synthase subunit 3|dolichol-phosphate mannose synthase subunit 3|dolichol-phosphate mannosyltransferase subunit 3|dolichyl-phosphate beta-D-mannosyltransferase subunit 3|mannose-P-dolichol synthase subunit 3|prostin 1|prostin-1 20141219 9606 54363 HAO1 - GOX|GOX1|HAOX1 MIM:605023|HGNC:HGNC:4809|Ensembl:ENSG00000101323|HPRD:05429|Vega:OTTHUMG00000031841 20 20p12 hydroxyacid oxidase (glycolate oxidase) 1 protein-coding HAO1 hydroxyacid oxidase (glycolate oxidase) 1 O (S)-2-hydroxy-acid oxidase|glycolate oxidase|hydroxyacid oxidase 1 20141207 9606 54461 FBXW5 PP3971 Fbw5 MIM:609072|HGNC:HGNC:13613|Ensembl:ENSG00000159069|HPRD:10955|Vega:OTTHUMG00000020967 9 9q34.3 F-box and WD repeat domain containing 5 protein-coding FBXW5 F-box and WD repeat domain containing 5 O F-box and WD-40 domain-containing protein 5|F-box/WD repeat-containing protein 5|WD repeat-containing F-box protein FBW5 20141207 9606 54464 XRN1 - SEP1 MIM:607994|HGNC:HGNC:30654|Ensembl:ENSG00000114127|HPRD:10470|Vega:OTTHUMG00000159251 3 3q23 5'-3' exoribonuclease 1 protein-coding XRN1 5'-3' exoribonuclease 1 O strand-exchange protein 1 homolog 20141207 9606 54480 CHPF2 UNQ299/PRO339 CSGLCA-T|CSGlcAT|ChSy-3|chPF-2 MIM:608037|HGNC:HGNC:29270|Ensembl:ENSG00000033100|HPRD:10474|Vega:OTTHUMG00000157380 7 7q36.1 chondroitin polymerizing factor 2 protein-coding CHPF2 chondroitin polymerizing factor 2 O N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase|chondroitin sulfate glucuronyltransferase|chondroitin synthase-3 20141207 9606 54490 UGT2B28 - - MIM:606497|HGNC:HGNC:13479|Ensembl:ENSG00000135226|HPRD:05931|Vega:OTTHUMG00000129401 4 4q13.2 UDP glucuronosyltransferase 2 family, polypeptide B28 protein-coding UGT2B28 UDP glucuronosyltransferase 2 family, polypeptide B28 O UDP glycosyltransferase 2 family, polypeptide B28|UDP-glucuronosyltransferase 2B28|UDPGT 2B28 20141207 9606 54498 SMOX RP4-779E11.4 C20orf16|PAO|PAO-1|PAO1|PAOH|PAOH1|SMO MIM:615854|HGNC:HGNC:15862|Ensembl:ENSG00000088826|HPRD:11587|Vega:OTTHUMG00000031777 20 20p13 spermine oxidase protein-coding SMOX spermine oxidase O flavin containing amine oxidase|flavin-containing spermine oxidase|polyamine oxidase 1|putative cyclin G1 interacting protein 20141207 9606 54512 EXOSC4 - RRP41|RRP41A|Rrp41p|SKI6|Ski6p|hRrp41p|p12A MIM:606491|HGNC:HGNC:18189|Ensembl:ENSG00000178896|HPRD:16221|Vega:OTTHUMG00000165437 8 8q24.3 exosome component 4 protein-coding EXOSC4 exosome component 4 O exosome complex component RRP41|exosome complex exonuclease RRP41|exosome component Rrp41|ribosomal RNA-processing protein 41 20141207 9606 54543 TOMM7 AD-014 TOM7 MIM:607980|HGNC:HGNC:21648|Ensembl:ENSG00000196683|HPRD:16266|Vega:OTTHUMG00000094805 7 7p15.3 translocase of outer mitochondrial membrane 7 homolog (yeast) protein-coding TOMM7 translocase of outer mitochondrial membrane 7 homolog (yeast) O 6.2 kd protein|mitochondrial import receptor subunit TOM7 homolog|translocase of outer membrane 7 kDa subunit homolog 20141207 9606 54575 UGT1A10 - UDPGT|UGT-1J|UGT1-10|UGT1.10|UGT1J MIM:606435|HGNC:HGNC:12531|Ensembl:ENSG00000242515|HPRD:07336|Vega:OTTHUMG00000059121 2 2q37 UDP glucuronosyltransferase 1 family, polypeptide A10 protein-coding UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 O UDP glycosyltransferase 1 family, polypeptide A10|UDP-glucuronosyltransferase 1-10|UDP-glucuronosyltransferase 1-J|UDP-glucuronosyltransferase 1A10|UDPGT 1-10 20141211 9606 54576 UGT1A8 - UDPGT|UDPGT 1-8|UGT-1H|UGT1-08|UGT1.8|UGT1A8S|UGT1H MIM:606433|HGNC:HGNC:12540|Ensembl:ENSG00000242366|HPRD:07072|Vega:OTTHUMG00000059123 2 2q37 UDP glucuronosyltransferase 1 family, polypeptide A8 protein-coding UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8 O UDP glycosyltransferase 1 family, polypeptide A8|UDP-glucuronosyltransferase 1 family polypeptide A8s|UDP-glucuronosyltransferase 1-8|UDP-glucuronosyltransferase 1-H|UDP-glucuronosyltransferase 1A8 20141211 9606 54577 UGT1A7 - UDPGT|UDPGT 1-7|UGT-1G|UGT1-07|UGT1.7|UGT1G MIM:606432|HGNC:HGNC:12539|Ensembl:ENSG00000244122|HPRD:09397|Vega:OTTHUMG00000059004 2 2q37 UDP glucuronosyltransferase 1 family, polypeptide A7 protein-coding UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7 O UDP glycosyltransferase 1 family, polypeptide A7|UDP-glucuronosyltransferase 1 family polypeptide A7s|UDP-glucuronosyltransferase 1-7|UDP-glucuronosyltransferase 1-G|UDP-glucuronosyltransferase 1A7 20141211 9606 54578 UGT1A6 - GNT1|HLUGP|HLUGP1|UDPGT|UDPGT 1-6|UGT1|UGT1A6S|UGT1F MIM:606431|HGNC:HGNC:12538|Ensembl:ENSG00000167165|HPRD:07071|Vega:OTTHUMG00000059122 2 2q37 UDP glucuronosyltransferase 1 family, polypeptide A6 protein-coding UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 O UDP glycosyltransferase 1 family, polypeptide A6|UDP-glucuronosyltransferase 1 family polypeptide A6s|UDP-glucuronosyltransferase 1-6|UDP-glucuronosyltransferase 1-F|UDP-glucuronosyltransferase 1A6|UGT-1F|UGT1*6|UGT1-06|UGT1.6|phenol-metabolizing UDP-glucuronosyltransferase 20141211 9606 54579 UGT1A5 - UDPGT|UDPGT 1-5|UGT1E MIM:606430|HGNC:HGNC:12537|Ensembl:ENSG00000240224|HPRD:07335|Vega:OTTHUMG00000059120 2 2q37 UDP glucuronosyltransferase 1 family, polypeptide A5 protein-coding UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5 O UDP glycosyltransferase 1 family, polypeptide A5|UDP-glucuronosyltransferase 1 family polypeptide A5s|UDP-glucuronosyltransferase 1-5|UDP-glucuronosyltransferase 1-E|UDP-glucuronosyltransferase 1A5|UGT-1E|UGT1*5 20141211 9606 54600 UGT1A9 - HLUGP4|LUGP4|UDPGT|UDPGT 1-9|UGT-1I|UGT1-09|UGT1-9|UGT1.9|UGT1AI|UGT1I MIM:606434|HGNC:HGNC:12541|Ensembl:ENSG00000241119|HPRD:07073|Vega:OTTHUMG00000059124 2 2q37 UDP glucuronosyltransferase 1 family, polypeptide A9 protein-coding UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9 O UDP glycosyltransferase 1 family, polypeptide A9|UDP-glucuronosyltransferase 1-9|UDP-glucuronosyltransferase 1-I|UDP-glucuronosyltransferase 1A9 20141222 9606 54657 UGT1A4 - HUG-BR2|UDPGT|UDPGT 1-4|UGT-1D|UGT1-04|UGT1.4|UGT1D MIM:606429|HGNC:HGNC:12536|Ensembl:ENSG00000244474|HPRD:08402|Vega:OTTHUMG00000059119 2 2q37 UDP glucuronosyltransferase 1 family, polypeptide A4 protein-coding UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 O UDP glycosyltransferase 1 family, polypeptide A4|UDP-glucuronosyltransferase 1-4|UDP-glucuronosyltransferase 1-D|UDP-glucuronosyltransferase 1A4|bilirubin UDP-glucuronosyltransferase isozyme 2|bilirubin-specific UDPGT isozyme 2 20141211 9606 54658 UGT1A1 - BILIQTL1|GNT1|HUG-BR1|UDPGT|UDPGT 1-1|UGT1|UGT1A MIM:191740|HGNC:HGNC:12530|Ensembl:ENSG00000241635|HPRD:08933|Vega:OTTHUMG00000059117 2 2q37 UDP glucuronosyltransferase 1 family, polypeptide A1 protein-coding UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 O UDP glycosyltransferase 1 family, polypeptide A1|UDP-glucuronosyltransferase 1-1|UDP-glucuronosyltransferase 1-A|UDP-glucuronosyltransferase 1A1|UGT-1A|UGT1*1|UGT1-01|UGT1.1|bilirubin UDP-glucuronosyltransferase 1-1|bilirubin UDP-glucuronosyltransferase isozyme 1|bilirubin-specific UDPGT isozyme 1 20141222 9606 54659 UGT1A3 - UDPGT|UDPGT 1-3|UGT-1C|UGT1-03|UGT1.3|UGT1C MIM:606428|HGNC:HGNC:12535|Ensembl:ENSG00000243135|HPRD:07566|Vega:OTTHUMG00000059118 2 2q37 UDP glucuronosyltransferase 1 family, polypeptide A3 protein-coding UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3 O UDP glycosyltransferase 1 family, polypeptide A3|UDP-glucuronosyltransferase 1-3|UDP-glucuronosyltransferase 1-C|UDP-glucuronosyltransferase 1A3|UGT1*3 20141211 9606 54675 CRLS1 - C20orf155|CLS|CLS1|GCD10|dJ967N21.6 MIM:608188|HGNC:HGNC:16148|Ensembl:ENSG00000088766|HPRD:12187|Vega:OTTHUMG00000031823 20 20p13-p12.3 cardiolipin synthase 1 protein-coding CRLS1 cardiolipin synthase 1 O cardiolipin synthase 20141207 9606 54677 CROT - COT MIM:606090|HGNC:HGNC:2366|Ensembl:ENSG00000005469|HPRD:12081|Vega:OTTHUMG00000023653 7 7q21.1 carnitine O-octanoyltransferase protein-coding CROT carnitine O-octanoyltransferase O peroxisomal carnitine O-octanoyltransferase|peroxisomal carnitine acyltransferase 20141207 9606 54704 PDP1 - PDH|PDP|PDPC|PPM2C MIM:605993|HGNC:HGNC:9279|Ensembl:ENSG00000164951|HPRD:16185|Vega:OTTHUMG00000164356 8 8q22.1 pyruvate dehyrogenase phosphatase catalytic subunit 1 protein-coding PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 O PDP 1|PDPC 1|[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial|protein phosphatase 2C, magnesium-dependent, catalytic subunit|pyruvate dehydrogenase (Lipoamide) phosphatase-phosphatase|pyruvate dehydrogenase phosphatase catalytic subunit 1 20141222 9606 54797 MED18 - p28b MIM:612384|HGNC:HGNC:25944|Ensembl:ENSG00000130772|HPRD:17476|Vega:OTTHUMG00000003537 1 1p35.3 mediator complex subunit 18 protein-coding MED18 mediator complex subunit 18 O TRAP/mediator complex subunit p28b|mediator of RNA polymerase II transcription subunit 18|mediator of RNA polymerase II transcription, subunit 18 homolog 20141207 9606 54872 PIGG UNQ1930/PRO4405 GPI7|LAS21|PRO4405|RLGS1930 HGNC:HGNC:25985|Ensembl:ENSG00000174227|HPRD:07890|Vega:OTTHUMG00000112457 4 4p16.3 phosphatidylinositol glycan anchor biosynthesis, class G protein-coding PIGG phosphatidylinositol glycan anchor biosynthesis, class G O GPI ethanolamine phosphate transferase 2|phosphatidylinositol-glycan biosynthesis class G protein 20141207 9606 54884 RETSAT UNQ439/PRO872 - HGNC:HGNC:25991|Ensembl:ENSG00000042445|HPRD:07893|Vega:OTTHUMG00000154611 2 2p11.2 retinol saturase (all-trans-retinol 13,14-reductase) protein-coding RETSAT retinol saturase (all-trans-retinol 13,14-reductase) O PPAR-alpha-regulated and starvation-induced gene protein|all-trans-13,14-dihydroretinol saturase|all-trans-retinol 13,14-reductase 20141207 9606 54898 ELOVL2 - SSC2 MIM:611814|HGNC:HGNC:14416|Ensembl:ENSG00000197977|HPRD:16857|Vega:OTTHUMG00000014252 6 6p24.2 ELOVL fatty acid elongase 2 protein-coding ELOVL2 ELOVL fatty acid elongase 2 O 3-keto acyl-CoA synthase ELOVL2|ELOVL FA elongase 2|elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2|elongation of very long chain fatty acids protein 2|very-long-chain 3-oxoacyl-CoA synthase 2 20141211 9606 54947 LPCAT2 - AYTL1|LysoPAFAT MIM:612040|HGNC:HGNC:26032|Ensembl:ENSG00000087253|HPRD:07913|Vega:OTTHUMG00000133238 16 16q12.2 lysophosphatidylcholine acyltransferase 2 protein-coding LPCAT2 lysophosphatidylcholine acyltransferase 2 O 1-AGP acyltransferase 11|1-AGPAT 11|1-acylglycerol-3-phosphate O-acyltransferase 11|1-acylglycerophosphocholine O-acyltransferase|1-alkylglycerophosphocholine O-acetyltransferase|LPAAT-alpha|LPC acyltransferase 2|LPCAT-2|acetyl-CoA:lyso-PAF acetyltransferase|acetyl-CoA:lyso-platelet-activating factor acetyltransferase|acyl-CoA:lysophosphatidylcholine acyltransferase 2|acyltransferase like 1|acyltransferase-like 1|lyso-PAF acetyltransferase|lyso-platelet-activating factor (PAF) acetyltransferase|lysoPC acyltransferase 2|lysophosphatidic acid acyltransferase alpha 20141207 9606 54963 UCKL1 RP4-591C20.1 UCK1L|URKL1 MIM:610866|HGNC:HGNC:15938|Ensembl:ENSG00000198276|HPRD:15607|Vega:OTTHUMG00000033003 20 20q13.33 uridine-cytidine kinase 1-like 1 protein-coding UCKL1 uridine-cytidine kinase 1-like 1 O UCK1-LIKE|uridine-cytidine kinase-like 1 20141207 9606 54965 PIGX - PIG-X MIM:610276|HGNC:HGNC:26046|Ensembl:ENSG00000163964|HPRD:07921|Vega:OTTHUMG00000155535 3 3q29 phosphatidylinositol glycan anchor biosynthesis, class X protein-coding PIGX phosphatidylinositol glycan anchor biosynthesis, class X O GPI-mannosyltransferase subunit|phosphatidylinositol-glycan biosynthesis class X protein 20141207 9606 54988 ACSM5 - - MIM:614361|HGNC:HGNC:26060|Ensembl:ENSG00000183549|HPRD:08627|Vega:OTTHUMG00000131551 16 16p12.3 acyl-CoA synthetase medium-chain family member 5 protein-coding ACSM5 acyl-CoA synthetase medium-chain family member 5 O acyl-coenzyme A synthetase ACSM5, mitochondrial 20141211 9606 55034 MOCOS - HMCS|MCS|MOS MIM:613274|HGNC:HGNC:18234|HPRD:17585 18 18q12 molybdenum cofactor sulfurase protein-coding MOCOS molybdenum cofactor sulfurase O MCS|MOS 20141207 9606 55066 PDPR - PDP3 HGNC:HGNC:30264|Ensembl:ENSG00000090857|HPRD:17832|Vega:OTTHUMG00000176963 16 16q22.1 pyruvate dehydrogenase phosphatase regulatory subunit protein-coding PDPR pyruvate dehydrogenase phosphatase regulatory subunit O pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial 20141207 9606 55090 MED9 - MED25 MIM:609878|HGNC:HGNC:25487|Ensembl:ENSG00000141026|HPRD:14383|Vega:OTTHUMG00000059293 17 17p11.2 mediator complex subunit 9 protein-coding MED9 mediator complex subunit 9 O mediator of RNA polymerase II transcription subunit 9|mediator of RNA polymerase II transcription, subunit 9 homolog|mediator subunit 25 20141207 9606 55163 PNPO - HEL-S-302|PDXPO MIM:603287|HGNC:HGNC:30260|HPRD:04476 17 17q21.32 pyridoxamine 5'-phosphate oxidase protein-coding PNPO pyridoxamine 5'-phosphate oxidase O epididymis secretory protein Li 302|pyridoxal 5'-phosphate synthase|pyridoxamine-phosphate oxidase|pyridoxine 5'-phosphate oxidase|pyridoxine-5'-phosphate oxidase 20141207 9606 55176 SEC61A2 - - HGNC:HGNC:17702|Ensembl:ENSG00000065665|HPRD:15317|Vega:OTTHUMG00000017679 10 10p14 Sec61 alpha 2 subunit (S. cerevisiae) protein-coding SEC61A2 Sec61 alpha 2 subunit (S. cerevisiae) O Sec61 alpha form 2|protein transport protein Sec61 subunit alpha|protein transport protein Sec61 subunit alpha isoform 2|sec61 alpha-2 20141207 9606 55181 SMG8 - C17orf71 MIM:613175|HGNC:HGNC:25551|Ensembl:ENSG00000167447|HPRD:08551|Vega:OTTHUMG00000179365 17 17q22 SMG8 nonsense mediated mRNA decay factor protein-coding SMG8 SMG8 nonsense mediated mRNA decay factor O amplified in breast cancer gene 2 protein|protein SMG8|protein smg-8 homolog|smg-8 homolog, nonsense mediated mRNA decay factor 20141207 9606 55191 NADSYN1 - - MIM:608285|HGNC:HGNC:29832|Ensembl:ENSG00000172890|HPRD:16309|Vega:OTTHUMG00000167375 11 11q13.4 NAD synthetase 1 protein-coding NADSYN1 NAD synthetase 1 O NAD(+) synthase|NAD(+) synthetase|glutamine-dependent NAD synthetase|glutamine-dependent NAD(+) synthetase 20141207 9606 55217 TMLHE - AUTSX6|BBOX2|TMLD|TMLH|TMLHED|XAP130 MIM:300777|HGNC:HGNC:18308|Ensembl:ENSG00000185973|HPRD:06743|Vega:OTTHUMG00000022674 X Xq28 trimethyllysine hydroxylase, epsilon protein-coding TMLHE trimethyllysine hydroxylase, epsilon O TML hydroxylase|TML-alpha-ketoglutarate dioxygenase|butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2|epsilon-trimethyllysine 2-oxoglutarate dioxygenase|epsilon-trimethyllysine hydroxylase|trimethyllysine dioxygenase, mitochondrial 20141207 9606 55224 ETNK2 RP11-74C13.2 EKI2|HMFT1716 MIM:609859|HGNC:HGNC:25575|Ensembl:ENSG00000143845|HPRD:13283|Vega:OTTHUMG00000036061 1 1q32.1 ethanolamine kinase 2 protein-coding ETNK2 ethanolamine kinase 2 O ethanolamine kinase-like protein 20141207 9606 55229 PANK4 RP3-395M20.4 - MIM:606162|HGNC:HGNC:19366|Ensembl:ENSG00000157881|HPRD:07313|Vega:OTTHUMG00000000791 1 1p36.32 pantothenate kinase 4 protein-coding PANK4 pantothenate kinase 4 O hPanK4|pantothenic acid kinase 4 20141216 9606 55256 ADI1 HMFT1638 APL1|ARD|Fe-ARD|MTCBP1|Ni-ARD|SIPL|mtnD MIM:613400|HGNC:HGNC:30576|Ensembl:ENSG00000182551|HPRD:17607|Vega:OTTHUMG00000112441 2 2p25.3 acireductone dioxygenase 1 protein-coding ADI1 acireductone dioxygenase 1 O 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase|ARD|MT1-MMP cytoplasmic tail-binding protein-1|MTCBP-1|acireductone dioxygenase (Fe(2+)-requiring)|acireductone dioxygenase (Ni(2+)-requiring)|fe-ARD|membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1|submergence induced protein 2|submergence-induced protein-like factor 20141207 9606 55276 PGM2 MSTP006 - MIM:172000|HGNC:HGNC:8906|Ensembl:ENSG00000169299|HPRD:11761|Vega:OTTHUMG00000097813 4 4p14 phosphoglucomutase 2 protein-coding PGM2 phosphoglucomutase 2 O PGM 2|glucose phosphomutase 2|phosphodeoxyribomutase|phosphoglucomutase-2 20141207 9606 55294 FBXW7 - AGO|CDC4|FBW6|FBW7|FBX30|FBXO30|FBXW6|SEL-10|SEL10|hAgo|hCdc4 MIM:606278|HGNC:HGNC:16712|Ensembl:ENSG00000109670|HPRD:05888|Vega:OTTHUMG00000185246 4 4q31.3 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase protein-coding FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase O F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)|F-box protein FBW7|F-box protein FBX30|F-box protein SEL-10|F-box/WD repeat-containing protein 7|archipelago|homolog of C elegans sel-10 20141222 9606 55300 PI4K2B - PI4KIIB|PIK42B MIM:612101|HGNC:HGNC:18215|Ensembl:ENSG00000038210|HPRD:15132|Vega:OTTHUMG00000128564 4 4p15.2 phosphatidylinositol 4-kinase type 2 beta protein-coding PI4K2B phosphatidylinositol 4-kinase type 2 beta O PI4KII-BETA|phosphatidylinositol 4-kinase type 2-beta|phosphatidylinositol 4-kinase type II-beta|phosphatidylinositol 4-kinase type-II beta 20141207 9606 55312 RFK RP11-422N19.2 RIFK MIM:613010|HGNC:HGNC:30324|Ensembl:ENSG00000135002|HPRD:17969|Vega:OTTHUMG00000020040 9 9q21.13 riboflavin kinase protein-coding RFK riboflavin kinase O 0610038L10Rik|ATP:riboflavin 5'-phosphotransferase|flavokinase 20141207 9606 55326 AGPAT5 - 1AGPAT5|LPAATE MIM:614796|HGNC:HGNC:20886|HPRD:12438 8 8p23.1 1-acylglycerol-3-phosphate O-acyltransferase 5 protein-coding AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 O 1-AGP acyltransferase 5|1-AGPAT 5|1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon|1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)|lysophosphatidic acid acyltransferase epsilon 20141207 9606 55331 ACER3 - APHC|PHCA HGNC:HGNC:16066|HPRD:17844 11 11q13.5 alkaline ceramidase 3 protein-coding ACER3 alkaline ceramidase 3 O alkCDase 3|alkaline CDase 3|alkaline dihydroceramidase SB89|alkaline phytoceramidase|phytoceramidase, alkaline 20141207 9606 55349 CHDH - - HGNC:HGNC:24288|HPRD:13050 3 3p21.1 choline dehydrogenase protein-coding CHDH choline dehydrogenase O CDH|CHD|choline dehydrogenase, mitochondrial 20141207 9606 55361 PI4K2A RP11-548K23.6 PI4KII|PIK42A MIM:609763|HGNC:HGNC:30031|Ensembl:ENSG00000155252|HPRD:11431|Vega:OTTHUMG00000018863 10 10q24 phosphatidylinositol 4-kinase type 2 alpha protein-coding PI4K2A phosphatidylinositol 4-kinase type 2 alpha O phosphatidylinositol 4-kinase type 2-alpha|phosphatidylinositol 4-kinase type II (PI4KII)|phosphatidylinositol 4-kinase type II-alpha 20141218 9606 55454 CSGALNACT2 PRO0082 CHGN2|GALNACT-2|GALNACT2 HGNC:HGNC:24292|Ensembl:ENSG00000169826|HPRD:11348|Vega:OTTHUMG00000018023 10 10q11.21 chondroitin sulfate N-acetylgalactosaminyltransferase 2 protein-coding CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 O beta 4 GalNAcT-2|chondroitin beta1,4 N-acetylgalactosaminyltransferase 2 20141207 9606 55500 ETNK1 - EKI|EKI 1|EKI1|Nbla10396 MIM:609858|HGNC:HGNC:24649|Ensembl:ENSG00000139163|HPRD:09934|Vega:OTTHUMG00000169008 12 12p12.1 ethanolamine kinase 1 protein-coding ETNK1 ethanolamine kinase 1 O putative protein product of Nbla10396 20141207 9606 55501 CHST12 UNQ500/PRO1017 C4S-2|C4ST-2|C4ST2 MIM:610129|HGNC:HGNC:17423|Ensembl:ENSG00000136213|HPRD:13056|Vega:OTTHUMG00000023849 7 7p22 carbohydrate (chondroitin 4) sulfotransferase 12 protein-coding CHST12 carbohydrate (chondroitin 4) sulfotransferase 12 O carbohydrate sulfotransferase 12|chondroitin 4-O-sulfotransferase 2|chondroitin 4-sulfotransferase 2|sulfotransferase Hlo 20141207 9606 55512 SMPD3 - NSMASE2 MIM:605777|HGNC:HGNC:14240|Ensembl:ENSG00000103056|HPRD:16154|Vega:OTTHUMG00000137559 16 16q22.1 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) protein-coding SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) O nSMase-2|neutral sphingomyelinase 2|neutral sphingomyelinase II|sphingomyelin phosphodiesterase 3 20141207 9606 55568 GALNT10 - GALNACT10|PPGALNACT10|PPGANTASE10 MIM:608043|HGNC:HGNC:19873|Ensembl:ENSG00000164574|HPRD:12157|Vega:OTTHUMG00000130145 5 5q33.2 polypeptide N-acetylgalactosaminyltransferase 10 protein-coding GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 O GalNAc transferase 10|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 20141207 9606 55576 STAB2 - FEEL2|FELE-2|FELL2|FEX2|HARE MIM:608561|HGNC:HGNC:18629|Ensembl:ENSG00000136011|HPRD:10542|Vega:OTTHUMG00000170056 12 12q23.3 stabilin 2 protein-coding STAB2 stabilin 2 O CD44-like precursor FELL|FAS1 EGF-like and X-link domain containing adhesion molecule-2|fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-2|hepatic hyaluronan clearance receptor|hyaluronan receptor for endocytosis|hyaluronic acid receptor for endocytosis|stabilin-2 20141207 9606 55577 NAGK - GNK|HSA242910 MIM:606828|HGNC:HGNC:17174|Ensembl:ENSG00000124357|HPRD:08441|Vega:OTTHUMG00000153239 2 2p13.3 N-acetylglucosamine kinase protein-coding NAGK N-acetylglucosamine kinase O N-acetyl-D-glucosamine kinase|glcNAc kinase 20141207 9606 55586 MIOX RP4-579N16.11-001 ALDRL6 MIM:606774|HGNC:HGNC:14522|HPRD:12443 22 22q13.3 myo-inositol oxygenase protein-coding MIOX myo-inositol oxygenase O MI oxygenase|aldehyde reductase (aldose reductase) like 6|aldehyde reductase-like 6|inositol oxygenase|kidney-specific protein 32|renal-specific oxidoreductase 20141207 9606 55588 MED29 - IXL MIM:612914|HGNC:HGNC:23074|Ensembl:ENSG00000063322|HPRD:13748|Vega:OTTHUMG00000182969 19 19q13.2 mediator complex subunit 29 protein-coding MED29 mediator complex subunit 29 O intersex-like protein|mediator of RNA polymerase II transcription subunit 29 20141207 9606 55627 SMPD4 - NET13|NSMASE-3|NSMASE3 MIM:610457|HGNC:HGNC:32949|Ensembl:ENSG00000136699|HPRD:13374|Vega:OTTHUMG00000131624 2 2q21.1 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) protein-coding SMPD4 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) O SKNY protein|neutral sphingomyelinase 3|neutral sphingomyelinase III|sphingomyelin phosphodiesterase 4 20141207 9606 55650 PIGV RP1-50O24.2 GPI-MT-II|HPMRS1|PIG-V MIM:610274|HGNC:HGNC:26031|Ensembl:ENSG00000060642|HPRD:07912|Vega:OTTHUMG00000004005 1 1p36.11 phosphatidylinositol glycan anchor biosynthesis, class V protein-coding PIGV phosphatidylinositol glycan anchor biosynthesis, class V O GPI mannosyltransferase 2|GPI mannosyltransferase II|Ybr004c homolog|dol-P-Man dependent GPI mannosyltransferase 20141207 9606 55697 VAC14 - ArPIKfyve|TAX1BP2|TRX MIM:604632|HGNC:HGNC:25507|Ensembl:ENSG00000103043|HPRD:07660|Vega:OTTHUMG00000137583 16 16q22.1 Vac14 homolog (S. cerevisiae) protein-coding VAC14 Vac14 homolog (S. cerevisiae) O Tax1 (human T-cell leukemia virus type I) binding protein 1|Tax1 (human T-cell leukemia virus type I) binding protein 2|protein VAC14 homolog|tax1-binding protein 2 20141207 9606 55703 POLR3B - C128|HLD8|INMAP|RPC2 MIM:614366|HGNC:HGNC:30348|Ensembl:ENSG00000013503|HPRD:11447|Vega:OTTHUMG00000170077 12 12q23.3 polymerase (RNA) III (DNA directed) polypeptide B protein-coding POLR3B polymerase (RNA) III (DNA directed) polypeptide B O DNA-directed RNA polymerase III 127.6 kDa polypeptide|DNA-directed RNA polymerase III subunit B|DNA-directed RNA polymerase III subunit RPC2|RNA polymerase III subunit C2|interphase nucleus and mitotic apparatus associated protein 20141219 9606 55711 FAR2 - MLSTD1|SDR10E2 HGNC:HGNC:25531|Ensembl:ENSG00000064763|HPRD:14723|Vega:OTTHUMG00000169320 12 12p11.22 fatty acyl CoA reductase 2 protein-coding FAR2 fatty acyl CoA reductase 2 O fatty acyl-CoA reductase 2|male sterility domain-containing protein 1|short chain dehydrogenase/reductase family 10E, member 2 20141207 9606 55741 EDEM2 UNQ573/PRO1135 C20orf31|C20orf49|bA4204.1 MIM:610302|HGNC:HGNC:15877|Ensembl:ENSG00000088298|HPRD:09841|Vega:OTTHUMG00000032322 20 20q11.22 ER degradation enhancer, mannosidase alpha-like 2 protein-coding EDEM2 ER degradation enhancer, mannosidase alpha-like 2 O ER degradation-enhancing alpha-mannosidase-like 2|ER degradation-enhancing alpha-mannosidase-like protein 2|ER degradation-enhancing-mannosidase-like protein 2 20141207 9606 55746 NUP133 RP5-1068B5.4 hNUP133 MIM:607613|HGNC:HGNC:18016|Ensembl:ENSG00000069248|HPRD:06354|Vega:OTTHUMG00000039462 1 1q42.13 nucleoporin 133kDa protein-coding NUP133 nucleoporin 133kDa O 133 kDa nucleoporin|nuclear pore complex protein Nup133|nucleoporin 133kD|nucleoporin Nup133 20141207 9606 55748 CNDP2 - CN2|CPGL|HEL-S-13|HsT2298|PEPA MIM:169800|HGNC:HGNC:24437|Ensembl:ENSG00000133313|HPRD:09893|Vega:OTTHUMG00000132853 18 18q22.3 CNDP dipeptidase 2 (metallopeptidase M20 family) protein-coding CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) O cytosolic non-specific dipeptidase|cytosolic nonspecific dipeptidase|epididymis secretory protein Li 13|glutamate carboxypeptidase-like protein 1|peptidase A 20141222 9606 55750 AGK - CATC5|CTRCT38|MTDPS10|MULK MIM:610345|HGNC:HGNC:21869|HPRD:08554 7 7q34 acylglycerol kinase protein-coding AGK acylglycerol kinase O acylglycerol kinase, mitochondrial|hAGK|hsMuLK|multi-substrate lipid kinase|multiple substrate lipid kinase 20141207 9606 55753 OGDHL - - HGNC:HGNC:25590|Ensembl:ENSG00000197444|HPRD:07704|Vega:OTTHUMG00000018200 10 10q11.23 oxoglutarate dehydrogenase-like protein-coding OGDHL oxoglutarate dehydrogenase-like O 2-oxoglutarate dehydrogenase complex component E1-like|2-oxoglutarate dehydrogenase-like, mitochondrial|OGDC-E1-like|alpha-ketoglutarate dehydrogenase-like 20141207 9606 55757 UGGT2 RP11-31K22.2 HUGT2|UGCGL2|UGT2 MIM:605898|HGNC:HGNC:15664|Ensembl:ENSG00000102595|HPRD:12065|Vega:OTTHUMG00000017230 13 13q32.1 UDP-glucose glycoprotein glucosyltransferase 2 protein-coding UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 O UDP--Glc:glycoprotein glucosyltransferase 2|UDP-Glc:glycoprotein glucosyltransferase 2|UDP-glucose ceramide glucosyltransferase-like 1|UDP-glucose ceramide glucosyltransferase-like 2|UDP-glucose:glycoprotein glucosyltransferase 2 20141207 9606 55790 CSGALNACT1 UNQ656/PRO1287 CSGalNAcT-1|ChGn|beta4GalNAcT HGNC:HGNC:24290|Ensembl:ENSG00000147408|HPRD:13114|Vega:OTTHUMG00000130827 8 8p21.3 chondroitin sulfate N-acetylgalactosaminyltransferase 1 protein-coding CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 O beta4GalNAcT-1|chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1|chondroitin beta1,4 N-acetylgalactosaminyltransferase 20141207 9606 55798 METTL2B UNQ6168 METL|METTL2|METTL2A|PSENIP1 MIM:607846|HGNC:HGNC:18272|Ensembl:ENSG00000165055|HPRD:09705|Vega:OTTHUMG00000143738 7 7q32.1 methyltransferase like 2B protein-coding METTL2B methyltransferase like 2B O methyltransferase-like protein 2B 20141207 9606 55802 DCP1A - HSA275986|Nbla00360|SMAD4IP1|SMIF MIM:607010|HGNC:HGNC:18714|Ensembl:ENSG00000272886|HPRD:06113|Vega:OTTHUMG00000158193 3 3p21.1 decapping mRNA 1A protein-coding DCP1A decapping mRNA 1A O DCP1 decapping enzyme homolog A|Smad4-interacting transcriptional co-activator|decapping enzyme hDcp1a|mRNA-decapping enzyme 1A|putative protein product of Nbla00360|transcription factor SMIF 20141207 9606 55811 ADCY10 RP1-313L4.2 HCA2|SAC|SACI|Sacy|hsAC MIM:605205|HGNC:HGNC:21285|Ensembl:ENSG00000143199|HPRD:05549|Vega:OTTHUMG00000034573 1 1q24 adenylate cyclase 10 (soluble) protein-coding ADCY10 adenylate cyclase 10 (soluble) O 3',5'-cyclic AMP synthetase|AH-related protein|ATP pyrophosphate-lyase|adenylate cyclase type 10|germ cell soluble adenylyl cyclase|testicular soluble adenylyl cyclase (SAC) 20141222 9606 55821 ALLC - ALC MIM:612396|HGNC:HGNC:17377|Ensembl:ENSG00000151360|HPRD:10642|Vega:OTTHUMG00000151485 2 2q35 allantoicase protein-coding ALLC allantoicase O allantoate amidinohydrolase|probable allantoicase 20141207 9606 55902 ACSS2 RP5-1161H23.2 ACAS2|ACECS|ACS|ACSA|dJ1161H23.1 MIM:605832|HGNC:HGNC:15814|Ensembl:ENSG00000131069|Vega:OTTHUMG00000032317 20 20q11.22 acyl-CoA synthetase short-chain family member 2 protein-coding ACSS2 acyl-CoA synthetase short-chain family member 2 O acetate thiokinase|acetate-CoA ligase|acetyl-Coenzyme A synthetase 2 (ADP forming)|acetyl-coenzyme A synthetase, cytoplasmic|acyl-activating enzyme|cytoplasmic acetyl-coenzyme A synthetase 20141207 9606 55907 CMAS - CSS MIM:603316|HGNC:HGNC:18290|Ensembl:ENSG00000111726|HPRD:04501|Vega:OTTHUMG00000169097 12 12p12.1 cytidine monophosphate N-acetylneuraminic acid synthetase protein-coding CMAS cytidine monophosphate N-acetylneuraminic acid synthetase O CMP-N-acetylneuraminic acid synthase|CMP-N-acetylneuraminic acid synthetase|CMP-Neu5Ac synthetase|CMP-NeuNAc synthase|CMP-NeuNAc synthetase|CMP-sialic acid synthetase|N-acylneuraminate cytidylyltransferase|cytidine 5'-monophosphate N-acetylneuraminic acid synthetase 20141207 9606 55970 GNG12 RP5-975D15.2 - MIM:615405|HGNC:HGNC:19663|Ensembl:ENSG00000172380|HPRD:13592|Vega:OTTHUMG00000009545 1 1p31.3 guanine nucleotide binding protein (G protein), gamma 12 protein-coding GNG12 guanine nucleotide binding protein (G protein), gamma 12 O G-protein gamma-12 subunit|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 20141207 9606 56006 SMG9 - C19orf61|F17127_1 MIM:613176|HGNC:HGNC:25763|HPRD:07800 19 19q13.31 SMG9 nonsense mediated mRNA decay factor protein-coding SMG9 SMG9 nonsense mediated mRNA decay factor O protein SMG9|protein smg-9 homolog|smg-9 homolog, nonsense mediated mRNA decay factor 20141207 9606 56052 ALG1 PSEC0061 CDG1K|HMAT1|HMT-1|HMT1|MT-1|Mat-1|hMat-1 MIM:605907|HGNC:HGNC:18294|HPRD:10437 16 16p13.3 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase protein-coding ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase O GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase|GDP-mannose-dolichol diphosphochitobiose mannosyltransferase|asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)|asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog|asparagine-linked glycosylation protein 1 homolog|beta-1,4 mannosyltransferase|beta-1,4-mannosyltransferase|chitobiosyldiphosphodolichol beta-mannosyltransferase|mannosyltransferase-1 20141219 9606 56261 GPCPD1 RP5-1022P6.2 GDE5|GDPD6|PREI4 MIM:614124|HGNC:HGNC:26957|Ensembl:ENSG00000125772|HPRD:10025|Vega:OTTHUMG00000031806 20 20p12.3 glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) protein-coding GPCPD1 glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) O glycerophosphocholine phosphodiesterase GPCPD1|glycerophosphodiester phosphodiesterase 5|preimplantation protein 4|putative glycerophosphocholine phosphodiesterase GPCPD1|putative glycerophosphodiester phosphodiesterase 5 20141207 9606 56267 CCBL2 RP11-82K18.3 KAT3|KATIII MIM:610656|HGNC:HGNC:33238|Ensembl:ENSG00000137944|HPRD:13752|Vega:OTTHUMG00000010617 1 1p22.2 cysteine conjugate-beta lyase 2 protein-coding CCBL2 cysteine conjugate-beta lyase 2 O RP11-82K18.3|cysteine-S-conjugate beta-lyase 2|kynurenine aminotransferase III|kynurenine--glyoxylate transaminase|kynurenine--oxoglutarate transaminase 3|kynurenine--oxoglutarate transaminase III|kynurenine-oxoglutarate transaminase 3 20141207 9606 56474 CTPS2 RP11-759L5.3 - MIM:300380|HGNC:HGNC:2520|Ensembl:ENSG00000047230|HPRD:02305|Vega:OTTHUMG00000021193 X Xp22 CTP synthase 2 protein-coding CTPS2 CTP synthase 2 O CTP synthase II|CTP synthetase type 2|UTP-ammonia ligase 2|cytidine 5'-triphosphate synthetase 2 20141207 9606 56548 CHST7 RP1-71L16.8 C6ST-2|GST-5 MIM:300375|HGNC:HGNC:13817|Ensembl:ENSG00000147119|HPRD:02302|Vega:OTTHUMG00000021423 X Xp11.23 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 protein-coding CHST7 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 O N-acetylglucosamine 6-O-sulfotransferase 4|carbohydrate sulfotransferase 7|chondroitin 6-sulfotransferase-2|galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 5|glcNAc6ST-4|gn6st-4 20141207 9606 56623 INPP5E - CORS1|CPD4|JBTS1|MORMS|PPI5PIV MIM:613037|HGNC:HGNC:21474|Ensembl:ENSG00000148384|HPRD:17151|Vega:OTTHUMG00000020927 9 9q34.3 inositol polyphosphate-5-phosphatase, 72 kDa protein-coding INPP5E inositol polyphosphate-5-phosphatase, 72 kDa O 72 kDa inositol polyphosphate 5-phosphatase|phosphatidylinositol (4,5) bisphosphate 5-phosphatase|phosphatidylinositol 4,5-bisphosphate 5-phosphatase|phosphatidylinositol polyphosphate 5-phosphatase type IV|phosphatidylinositol-4,5-bisphosphate 5-phosphatase 20141219 9606 56624 ASAH2 - BCDase|HNAC1|LCDase|N-CDase|NCDase MIM:611202|HGNC:HGNC:18860|Ensembl:ENSG00000188611|Vega:OTTHUMG00000018223 10 10q11.21 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 protein-coding ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 O N-acylsphingosine amidohydrolase 2|acylsphingosine deacylase 2|mitochondrial ceramidase|neutral ceramidase|neutral/alkaline ceramidase|non-lysosomal ceramidase 20141207 9606 56648 EIF5A2 - EIF-5A2|eIF5AII MIM:605782|HGNC:HGNC:3301|Ensembl:ENSG00000163577|HPRD:10426|Vega:OTTHUMG00000158958 3 3q26.2 eukaryotic translation initiation factor 5A2 protein-coding EIF5A2 eukaryotic translation initiation factor 5A2 O eIF-5A-2|eukaryotic initiation factor 5A|eukaryotic translation initiation factor 5A-2 20141207 9606 56655 POLE4 - YHHQ1|p12 MIM:607269|HGNC:HGNC:18755|HPRD:16238 2 2p12 polymerase (DNA-directed), epsilon 4, accessory subunit protein-coding POLE4 polymerase (DNA-directed), epsilon 4, accessory subunit O DNA polymerase II subunit 4|DNA polymerase epsilon p12 subunit|DNA polymerase epsilon subunit 4|DNA polymerase epsilon subunit p12|polymerase (DNA-directed), epsilon 4 (p12 subunit) 20141207 9606 56667 MUC13 UNQ6194/PRO20221 DRCC1|MUC-13 MIM:612181|HGNC:HGNC:7511|Ensembl:ENSG00000173702|HPRD:10101|Vega:OTTHUMG00000159484 3 3q21.2 mucin 13, cell surface associated protein-coding MUC13 mucin 13, cell surface associated O down-regulated in colon cancer 1|mucin 13, epithelial transmembrane|mucin-13 20141207 9606 56848 SPHK2 - SK 2|SK-2|SPK 2|SPK-2 MIM:607092|HGNC:HGNC:18859|Ensembl:ENSG00000063176|HPRD:06157|Vega:OTTHUMG00000183318 19 19q13.2 sphingosine kinase 2 protein-coding SPHK2 sphingosine kinase 2 O sphingosine kinase type 2 20141207 9606 56886 UGGT1 - HUGT1|UGCGL1|UGT1 MIM:605897|HGNC:HGNC:15663|Ensembl:ENSG00000136731|HPRD:12064|Vega:OTTHUMG00000131570 2 2q14.3 UDP-glucose glycoprotein glucosyltransferase 1 protein-coding UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 O UDP--Glc:glycoprotein glucosyltransferase|UDP-glucose ceramide glucosyltransferase-like 1|UDP-glucose:glycoprotein glucosyltransferase 1 20141207 9606 56894 AGPAT3 UNQ759/PRO1490 LPAAT-GAMMA1|LPAAT3 MIM:614794|HGNC:HGNC:326|Ensembl:ENSG00000160216|HPRD:10637|Vega:OTTHUMG00000086892 21 21q22.3 1-acylglycerol-3-phosphate O-acyltransferase 3 protein-coding AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 O 1-AGP acyltransferase 3|1-AGPAT 3|1-acyl-sn-glycerol-3-phosphate acyltransferase gamma|lysophosphatidic acid acyltransferase gamma|lysophosphatidic acid acyltransferase-gamma1 20141207 9606 56895 AGPAT4 RP3-473J16.2 1-AGPAT4|LPAAT-delta|dJ473J16.2 MIM:614795|HGNC:HGNC:20885|Ensembl:ENSG00000026652|HPRD:12437|Vega:OTTHUMG00000015966 6 6q26 1-acylglycerol-3-phosphate O-acyltransferase 4 protein-coding AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 O 1-AGP acyltransferase 4|1-AGPAT 4|1-acyl-sn-glycerol-3-phosphate acyltransferase delta|1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)|lysophosphatidic acid acyltransferase delta|lysophosphatidic acid acyltransferase-delta (LPAAT-delta) 20141207 9606 56898 BDH2 UNQ6308/PRO20933 DHRS6|EFA6R|PRO20933|SDR15C1|UCPA-OR|UNQ6308 HGNC:HGNC:32389|HPRD:07103 4 4q24 3-hydroxybutyrate dehydrogenase, type 2 protein-coding BDH2 3-hydroxybutyrate dehydrogenase, type 2 O 3-hydroxybutyrate dehydrogenase type 2|R-beta-hydroxybutyrate dehydrogenase|dehydrogenase/reductase (SDR family) member 6|dehydrogenase/reductase SDR family member 6|oxidoreductase UCPA|short chain dehydrogenase/reductase family 15C, member 1 20141207 9606 56913 C1GALT1 - C1GALT|T-synthase MIM:610555|HGNC:HGNC:24337|Ensembl:ENSG00000106392|HPRD:16631|Vega:OTTHUMG00000151912 7 7p21.3 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 protein-coding C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 O B3Gal-T8|core 1 O-glycan T-synthase|core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1|core 1 beta3-Gal-T1|core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1|glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 20141207 9606 56915 EXOSC5 - RRP41B|RRP46|Rrp46p|hRrp46p|p12B MIM:606492|HGNC:HGNC:24662|Ensembl:ENSG00000077348|HPRD:16222|Vega:OTTHUMG00000182759 19 19q13.1 exosome component 5 protein-coding EXOSC5 exosome component 5 O chronic myelogenous leukemia tumor antigen 28|exosome complex component RRP46|exosome complex exonuclease RRP46|exosome component Rrp46|ribosomal RNA-processing protein 46 20141207 9606 56922 MCCC1 - MCC-B|MCCA MIM:609010|HGNC:HGNC:6936|Ensembl:ENSG00000078070|HPRD:01951|Vega:OTTHUMG00000158355 3 3q27 methylcrotonoyl-CoA carboxylase 1 (alpha) protein-coding MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha) O 3-methylcrotonyl-CoA carboxylase 1|3-methylcrotonyl-CoA carboxylase biotin-containing subunit|3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha|MCCase subunit alpha|methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial|methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 20141211 9606 56953 NT5M - dNT-2|dNT2|mdN MIM:605292|HGNC:HGNC:15769|Ensembl:ENSG00000205309|HPRD:12009|Vega:OTTHUMG00000059277 17 17p11.2 5',3'-nucleotidase, mitochondrial protein-coding NT5M 5',3'-nucleotidase, mitochondrial O 5' nucleotidase, mitochondrial|5'(3')-deoxyribonucleotidase, mitochondrial|5(3)-deoxyribonucleotidase|deoxy-5'-nucleotidase 2|mitochondrial 5' nucleotidase 20141207 9606 56954 NIT2 CUA002 HEL-S-8a HGNC:HGNC:29878|HPRD:17634 3 3q12.2 nitrilase family, member 2 protein-coding NIT2 nitrilase family, member 2 O Nit protein 2|epididymis secretory sperm binding protein Li 8a|nitrilase homolog 2|omega-amidase NIT2 20141207 9606 56993 TOMM22 - 1C9-2|MST065|MSTP065|TOM22 MIM:607046|HGNC:HGNC:18002|HPRD:06130 22 22q12-q13 translocase of outer mitochondrial membrane 22 homolog (yeast) protein-coding TOMM22 translocase of outer mitochondrial membrane 22 homolog (yeast) O mitochondrial import receptor Tom22|mitochondrial import receptor subunit TOM22 homolog|translocase of outer membrane 22 kDa subunit homolog 20141207 9606 56994 CHPT1 MSTP022 CPT|CPT1 HGNC:HGNC:17852|Ensembl:ENSG00000111666|HPRD:13052|Vega:OTTHUMG00000170443 12 12q choline phosphotransferase 1 protein-coding CHPT1 choline phosphotransferase 1 O AAPT1-like protein|cholinephosphotransferase 1|cholinephosphotransferase 1 alpha|diacylglycerol cholinephosphotransferase 1|hCPT1|phosphatidylcholine synthesizing enzyme 20141207 9606 57016 AKR1B10 - AKR1B11|AKR1B12|ALDRLn|ARL-1|ARL1|HIS|HSI MIM:604707|HGNC:HGNC:382|Ensembl:ENSG00000198074|HPRD:05271|Vega:OTTHUMG00000155356 7 7q33 aldo-keto reductase family 1, member B10 (aldose reductase) protein-coding AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase) O ARP|SI reductase|aldo-keto reductase family 1 member B10|aldo-keto reductase family 1, member B11 (aldose reductase-like)|aldose reductase-like 1|aldose reductase-like peptide|aldose reductase-related protein|hARP|small intestine reductase 20141207 9606 57104 PNPLA2 FP17548 1110001C14Rik|ATGL|PEDF-R|TTS-2.2|TTS2|iPLA2zeta MIM:609059|HGNC:HGNC:30802|Ensembl:ENSG00000177666|HPRD:11443|Vega:OTTHUMG00000133309 11 11p15.5 patatin-like phospholipase domain containing 2 protein-coding PNPLA2 patatin-like phospholipase domain containing 2 O IPLA2-zeta|TTS2.2|adipose triglyceride lipase|calcium-independent phospholipase A2|desnutrin|patatin-like phospholipase domain containing protein 2|patatin-like phospholipase domain-containing protein 2|pigment epithelium-derived factor|transport-secretion protein 2.2|triglyceride hydrolase 20141207 9606 57122 NUP107 - NUP84 MIM:607617|HGNC:HGNC:29914|Ensembl:ENSG00000111581|HPRD:06356|Vega:OTTHUMG00000169265 12 12q15 nucleoporin 107kDa protein-coding NUP107 nucleoporin 107kDa O 107 kDa nucleoporin|nuclear pore complex protein Nup107|nucleoporin Nup107 20141207 9606 57134 MAN1C1 - HMIC|MAN1A3|MAN1C|pp6318 HGNC:HGNC:19080|Ensembl:ENSG00000117643|HPRD:14354|Vega:OTTHUMG00000004417 1 1p35 mannosidase, alpha, class 1C, member 1 protein-coding MAN1C1 mannosidase, alpha, class 1C, member 1 O 1,2-alpha-mannosidase IC|mannosyl-oligosaccharide 1,2-alpha-mannosidase IC|processing alpha-1,2-mannosidase IC 20141207 9606 57153 SLC44A2 PSEC0210 CTL2|PP1292 MIM:606106|HGNC:HGNC:17292|Ensembl:ENSG00000129353|HPRD:16198|Vega:OTTHUMG00000180585 19 19p13.1 solute carrier family 44 (choline transporter), member 2 protein-coding SLC44A2 solute carrier family 44 (choline transporter), member 2 O choline transporter-like protein 2|solute carrier family 44, member 2 20141207 9606 57171 DOLPP1 RP11-167N5.4 LSFR2 MIM:614516|HGNC:HGNC:29565|Ensembl:ENSG00000167130|HPRD:16835|Vega:OTTHUMG00000020771 9 9q34.1 dolichyldiphosphatase 1 protein-coding DOLPP1 dolichyldiphosphatase 1 O dolichyl pyrophosphate phosphatase 1|linked to Surfeit genes in Fugu rubripes 2 20141207 9606 57452 GALNT16 - GALNACT16|GALNTL1|GalNAc-T16 MIM:615132|HGNC:HGNC:23233|HPRD:13562 14 14q24.1 polypeptide N-acetylgalactosaminyltransferase 16 protein-coding GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 O UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 1|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1|galNAc-T-like protein 1|polypeptide GalNAc transferase 16|polypeptide GalNAc transferase-like protein 1|polypeptide N-acetylgalactosaminyltransferase-like protein 1|pp-GaNTase-like protein 1|protein-UDP acetylgalactosaminyltransferase-like protein 1|putative polypeptide N-acetylgalactosaminyltransferase-like protein 1 20141207 9606 57472 CNOT6 - CCR4|Ccr4a MIM:608951|HGNC:HGNC:14099|Ensembl:ENSG00000113300|HPRD:12341|Vega:OTTHUMG00000130935 5 5q35.3 CCR4-NOT transcription complex, subunit 6 protein-coding CNOT6 CCR4-NOT transcription complex, subunit 6 O CCR4-NOT transcription complex subunit 6|carbon catabolite repression 4 protein|carbon catabolite repressor protein 4 homolog|cytoplasmic deadenylase 20141207 9606 57546 PDP2 - PPM2C2 MIM:615499|HGNC:HGNC:30263|Ensembl:ENSG00000172840|HPRD:15112|Vega:OTTHUMG00000137512 16 16q22.1 pyruvate dehyrogenase phosphatase catalytic subunit 2 protein-coding PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2 O PDPC 2|[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial|protein phosphatase 2C, magnesium-dependent, catalytic subunit 2|pyruvate dehydrogenase phosphatase catalytic subunit 2|pyruvate dehydrogenase phosphatase isoenzyme 2|pyruvate dehydrogenase phosphatase, catalytic subunit 2 20141207 9606 57678 GPAM RP11-426E5.2 GPAT|GPAT1 MIM:602395|HGNC:HGNC:24865|Ensembl:ENSG00000119927|HPRD:03865|Vega:OTTHUMG00000019055 10 10q25.2 glycerol-3-phosphate acyltransferase, mitochondrial protein-coding GPAM glycerol-3-phosphate acyltransferase, mitochondrial O GPAT-1|glycerol 3-phosphate acyltransferase, mitochondrial|glycerol-3-phosphate acyltransferase 1, mitochondrial 20141207 9606 57704 GBA2 AD035 NLGase|SPG46 MIM:609471|HGNC:HGNC:18986|Ensembl:ENSG00000070610|HPRD:13569|Vega:OTTHUMG00000021024 9 9p13.3 glucosidase, beta (bile acid) 2 protein-coding GBA2 glucosidase, beta (bile acid) 2 O beta-glucocerebrosidase 2|glucosylceramidase 2|non-lysosomal glucosylceramidase 20141207 9606 57733 GBA3 - CBG|CBGL1|GLUC|KLRP MIM:606619|HGNC:HGNC:19069|Ensembl:ENSG00000249948|HPRD:09428|Vega:OTTHUMG00000160448 4 4p15.2 glucosidase, beta, acid 3 protein-coding GBA3 glucosidase, beta, acid 3 O cytosolic beta-glucosidase|cytosolic beta-glucosidase-like protein 1|glucosidase, beta, acid 3 (cytosolic)|klotho-related protein 20141211 9606 57761 TRIB3 RP5-1103G7.7 C20orf97|NIPK|SINK|SKIP3|TRB3 MIM:607898|HGNC:HGNC:16228|Ensembl:ENSG00000101255|HPRD:09836|Vega:OTTHUMG00000031627 20 20p13-p12.2 tribbles pseudokinase 3 protein-coding TRIB3 tribbles pseudokinase 3 O TRB-3|neuronal cell death inducible putative kinase|neuronal cell death-inducible putative kinase|p65-interacting inhibitor of NF-kappa-B|p65-interacting inhibitor of NF-kappaB|tribbles homolog 3 20141207 9606 57804 POLD4 - POLDS|p12 MIM:611525|HGNC:HGNC:14106|HPRD:17873 11 11q13 polymerase (DNA-directed), delta 4, accessory subunit protein-coding POLD4 polymerase (DNA-directed), delta 4, accessory subunit O DNA polymerase delta smallest subunit p12|DNA polymerase delta subunit 4 20141207 9606 57818 G6PC2 - IGRP MIM:608058|HGNC:HGNC:28906|HPRD:16272 2 2q24.3 glucose-6-phosphatase, catalytic, 2 protein-coding G6PC2 glucose-6-phosphatase, catalytic, 2 O G-6-Pase 2|G6Pase 2|glucose-6-phosphatase 2|islet-specific G6CP-related protein|islet-specific glucose-6-phosphatase catalytic subunit-related protein|islet-specific glucose-6-phosphatase-related protein 20141207 9606 57819 LSM2 DAAP-21F2.6 C6orf28|G7B|YBL026W|snRNP MIM:607282|HGNC:HGNC:13940|Ensembl:ENSG00000204392|HPRD:06282|Vega:OTTHUMG00000031121 6 6p21.3 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) protein-coding LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) O U6 snRNA-associated Sm-like protein LSm2|protein G7b|small nuclear ribonuclear protein D homolog|snRNP core Sm-like protein Sm-x5 20141207 9606 57876 MUC3B - MUC3|MUC3A MIM:605633|HGNC:HGNC:13384 7 7q22 mucin 3B, cell surface associated protein-coding MUC3B mucin 3B, cell surface associated O MUC-3B|intestinal mucin MUC3B|intestinal mucin-3B|mucin-3B 20141207 9606 58472 SQRDL CGI-44 PRO1975|SQOR HGNC:HGNC:20390|Ensembl:ENSG00000137767|HPRD:18102|Vega:OTTHUMG00000131476 15 15q15 sulfide quinone reductase-like (yeast) protein-coding SQRDL sulfide quinone reductase-like (yeast) O sulfide dehydrogenase like|sulfide:quinone oxidoreductase, mitochondrial 20141207 9606 58477 SRPRB PSEC0230 APMCF1 HGNC:HGNC:24085|Ensembl:ENSG00000144867|HPRD:18105|Vega:OTTHUMG00000159753 3 3q22.1 signal recognition particle receptor, B subunit protein-coding SRPRB signal recognition particle receptor, B subunit O SR-beta|signal recognition particle receptor subunit beta|signal recognition particle receptor, beta subunit 20141207 9606 58478 ENOPH1 MSTP145 E1|MASA|MST145|mtnC HGNC:HGNC:24599|Ensembl:ENSG00000145293|HPRD:17467|Vega:OTTHUMG00000130295 4 4q21.22 enolase-phosphatase 1 protein-coding ENOPH1 enolase-phosphatase 1 O 2,3-diketo-5-methylthio-1-phosphopentane phosphatase|acireductone synthase|enolase-phosphatase E1 20141207 9606 58497 PRUNE RP11-316M1.6 DRES-17|DRES17|HTCD37 HGNC:HGNC:13420|Ensembl:ENSG00000143363|HPRD:15188|Vega:OTTHUMG00000035062 1 1q21 prune exopolyphosphatase protein-coding PRUNE prune exopolyphosphatase O Drosophila-related expressed sequence 17|protein prune homolog 20141220 9606 58510 PRODH2 - HSPOX1 HGNC:HGNC:17325|Ensembl:ENSG00000250799|HPRD:17911|Vega:OTTHUMG00000180688 19 19q13.1 proline dehydrogenase (oxidase) 2 protein-coding PRODH2 proline dehydrogenase (oxidase) 2 O kidney and liver proline oxidase 1|probable proline dehydrogenase 2|probable proline oxidase 2 20141207 9606 59345 GNB4 RP11-145M9.4 CMTD1F MIM:610863|HGNC:HGNC:20731|HPRD:09973 3 3q26.33 guanine nucleotide binding protein (G protein), beta polypeptide 4 protein-coding GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 O G protein beta-4 subunit|guanine nucleotide-binding protein subunit beta-4|transducin beta chain 4 20141207 9606 60481 ELOVL5 RP3-483K16.1 HELO1|SCA38|dJ483K16.1 MIM:611805|HGNC:HGNC:21308|Ensembl:ENSG00000012660|HPRD:13268|Vega:OTTHUMG00000016249 6 6p21.1-p12.1 ELOVL fatty acid elongase 5 protein-coding ELOVL5 ELOVL fatty acid elongase 5 O 3-keto acyl-CoA synthase ELOVL5|ELOVL FA elongase 5|ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)|elongation of very long chain fatty acids protein 5|fatty acid elongase 1|homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2|spinocerebellar ataxia 38|very-long-chain 3-oxoacyl-CoA synthase 5 20141212 9606 60487 TRMT11 RP1-187J11.2 C6orf75|MDS024|TRM11|TRMT11-1 HGNC:HGNC:21080|Ensembl:ENSG00000066651|HPRD:12898|Vega:OTTHUMG00000015515 6 6q11.1-q22.33 tRNA methyltransferase 11 homolog (S. cerevisiae) protein-coding TRMT11 tRNA methyltransferase 11 homolog (S. cerevisiae) O tRNA (guanine(10)-N2)-methyltransferase homolog|tRNA guanosine-2'-O-methyltransferase TRM11 homolog 20141207 9606 60490 PPCDC MDS018 PPC-DC|coaC MIM:609854|HGNC:HGNC:28107|Ensembl:ENSG00000138621|HPRD:14377|Vega:OTTHUMG00000142824 15 15q24.2 phosphopantothenoylcysteine decarboxylase protein-coding PPCDC phosphopantothenoylcysteine decarboxylase O - 20141207 9606 60495 HPSE2 - HPA2|HPR2|UFS|UFS1 MIM:613469|HGNC:HGNC:18374|HPRD:13669 10 10q23-q24 heparanase 2 (inactive) protein-coding HPSE2 heparanase 2 (inactive) O heparanase 3|heparanase-like protein|inactive heparanase-2 20141219 9606 60496 AASDHPPT CGI-80 AASD-PPT|LYS2|LYS5 MIM:607756|HGNC:HGNC:14235|Ensembl:ENSG00000149313|HPRD:09675|Vega:OTTHUMG00000166253 11 11q22 aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase protein-coding AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase O 4'-phosphopantetheinyl transferase|L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase|LYS5 ortholog|alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase 20141207 9606 60559 SPCS3 UNQ1841/PRO3567 PRO3567|SPC22/23|SPC3|YLR066W HGNC:HGNC:26212|Ensembl:ENSG00000129128|HPRD:08001|Vega:OTTHUMG00000160789 4 4q34.2 signal peptidase complex subunit 3 homolog (S. cerevisiae) protein-coding SPCS3 signal peptidase complex subunit 3 homolog (S. cerevisiae) O SPase 22 kDa subunit|SPase 22/23 kDa subunit|microsomal signal peptidase 22/23 kDa subunit|microsomal signal peptidase 23 kDa subunit|signal peptidase complex subunit 3 20141207 9606 63826 SRR - ILV1|ISO1 MIM:606477|HGNC:HGNC:14398|Ensembl:ENSG00000167720|HPRD:10451|Vega:OTTHUMG00000090583 17 17p13 serine racemase protein-coding SRR serine racemase O D-serine ammonia-lyase|D-serine dehydratase|L-serine ammonia-lyase|L-serine dehydratase 20141207 9606 63827 BCAN RP11-66D17.1 BEHAB|CSPG7 MIM:600347|HGNC:HGNC:23059|Ensembl:ENSG00000132692|HPRD:02644|HPRD:09821|Vega:OTTHUMG00000033322 1 1q31 brevican protein-coding BCAN brevican O brain-enriched hyaluronan-binding protein|brevican core protein|chondroitin sulfate proteoglycan 7|chondroitin sulfate proteoglycan BEHAB 20141207 9606 63917 GALNT11 tcag7.1057 GALNACT11 MIM:615130|HGNC:HGNC:19875|Ensembl:ENSG00000178234|HPRD:13560|Vega:OTTHUMG00000157251 7 7q36.1|7q36.1 polypeptide N-acetylgalactosaminyltransferase 11 protein-coding GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 O GALNAC-T11|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)|polypeptide GalNAc transferase 11|pp-GaNTase 11|protein-UDP acetylgalactosaminyltransferase 11 20141207 9606 63971 KIF13A RP11-500C11.2 RBKIN|bA500C11.2 MIM:605433|HGNC:HGNC:14566|Ensembl:ENSG00000137177|HPRD:09256|Vega:OTTHUMG00000014313 6 6p23 kinesin family member 13A protein-coding KIF13A kinesin family member 13A O homolog of mouse KIF13A mannose-6-phosphate receptor transporter|kinesin-like protein KIF13A|kinesin-like protein RBKIN 20141207 9606 64064 OXCT2 FKSG25 SCOTT MIM:610289|HGNC:HGNC:18606|Ensembl:ENSG00000198754|HPRD:15093|Vega:OTTHUMG00000009249 1 1p34 3-oxoacid CoA transferase 2 protein-coding OXCT2 3-oxoacid CoA transferase 2 O 3-oxoacid CoA-transferase 2A|3-oxoacid-CoA transferase 2A|succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial|succinyl-CoA:3-ketoacid-coenzyme A transferase 2, mitochondrial|testis-specific succinyl CoA:3-oxoacid CoA-transferase|testis-specific succinyl-CoA:3-oxoacid CoA-transferase 20141207 9606 64087 MCCC2 - MCCB MIM:609014|HGNC:HGNC:6937|Ensembl:ENSG00000131844|HPRD:01952|Vega:OTTHUMG00000162505 5 5q12-q13 methylcrotonoyl-CoA carboxylase 2 (beta) protein-coding MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta) O 3-methylcrotonyl-CoA carboxylase 2|3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit|3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta|MCCase subunit beta|biotin carboxylase|methylcrotonoyl-CoA carboxylase beta chain, mitochondrial|methylcrotonoyl-Coenzyme A carboxylase 2 (beta)|non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase 20141207 9606 64240 ABCG5 - STSL MIM:605459|HGNC:HGNC:13886|Ensembl:ENSG00000138075|HPRD:05678|Vega:OTTHUMG00000128758 2 2p21 ATP-binding cassette, sub-family G (WHITE), member 5 protein-coding ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 O ATP-binding cassette sub-family G member 5|ATP-binding cassette, subfamily G, member 5|sterolin 1|sterolin-1 20141222 9606 64241 ABCG8 - GBD4|STSL MIM:605460|HGNC:HGNC:13887|Ensembl:ENSG00000143921|HPRD:05679|Vega:OTTHUMG00000128756 2 2p21 ATP-binding cassette, sub-family G (WHITE), member 8 protein-coding ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 O ATP-binding cassette sub-family G member 8|ATP-binding cassette, subfamily G, member 8|sterolin 2|sterolin-2 20141222 9606 64409 WBSCR17 - GALNACT17|GALNT16|GALNT20|GALNTL3|GalNAc-T5L MIM:615137|HGNC:HGNC:16347|Ensembl:ENSG00000185274|HPRD:15655|Vega:OTTHUMG00000129783 7 7q11.23 Williams-Beuren syndrome chromosome region 17 protein-coding WBSCR17 Williams-Beuren syndrome chromosome region 17 O UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16|galNAc-T-like protein 3|polypeptide GalNAc transferase 3|polypeptide GalNAc transferase-like protein 3|polypeptide N-acetylgalactosaminyltransferase WBSCR17|polypeptide N-acetylgalactosaminyltransferase-like 3|pp-GaNTase-like protein 3|pp-GalNAc-transferase 20|protein-UDP acetylgalactosaminyltransferase-like protein 3|putative polypeptide N-acetylgalactosaminyltransferase-like protein 3|williams-Beuren syndrome chromosomal region 17 protein 20141207 9606 64419 MTMR14 - C3orf29 MIM:611089|HGNC:HGNC:26190|Ensembl:ENSG00000163719|HPRD:08654|Vega:OTTHUMG00000155111 3 3p26 myotubularin related protein 14 protein-coding MTMR14 myotubularin related protein 14 O HCV NS5A-transactivated protein 4 splice variant A-binding protein 1|NS5ATP4ABP1|egg-derived tyrosine phosphatase homolog|jumpy|myotubularin-related protein 14 20141207 9606 64425 POLR1E RP11-405L18.3 PAF53|PRAF1 HGNC:HGNC:17631|Ensembl:ENSG00000137054|HPRD:15096|Vega:OTTHUMG00000019920 9 9p13.2 polymerase (RNA) I polypeptide E, 53kDa protein-coding POLR1E polymerase (RNA) I polypeptide E, 53kDa O DNA-directed RNA polymerase I subunit E|DNA-directed RNA polymerase I subunit RPA49|RNA polymerase I subunit A49|RNA polymerase I-associated factor 53|polymerase (RNA) I associated factor 1 20141207 9606 64579 NDST4 - NDST-4|NHSST4 MIM:615039|HGNC:HGNC:20779|Ensembl:ENSG00000138653|HPRD:10116|Vega:OTTHUMG00000132916 4 4q26 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 protein-coding NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 O N-HSST 4|N-heparan sulfate sulfotransferase 4|bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4|glucosaminyl N-deacetylase/N-sulfotransferase 4 20141207 9606 64600 PLA2G2F RP3-340N1.1 - HGNC:HGNC:30040|Ensembl:ENSG00000158786|HPRD:07499|Vega:OTTHUMG00000002704 1 1p35 phospholipase A2, group IIF protein-coding PLA2G2F phospholipase A2, group IIF O GIIF sPLA2|group IIF secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 2F|sPLA2-IIF 20141207 9606 64711 HS3ST6 - 3-OST-6|HS3ST5|h3-OST-6 HGNC:HGNC:14178|Ensembl:ENSG00000162040|HPRD:17115|Vega:OTTHUMG00000047860 16 16p13.3 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 protein-coding HS3ST6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 O heparan sulfate (glucosamine) 3-O-sulfotransferase 5|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 6|heparan sulfate glucosamine 3-O-sulfotransferase 6|heparan sulphate D-glucosaminyl 3-O-sulfotransferase-3B like 20141207 9606 64768 IPPK - C9orf12|INSP5K2|IP5K|IPK1|bA476B13.1 HGNC:HGNC:14645|Ensembl:ENSG00000127080|HPRD:10799|Vega:OTTHUMG00000020231 9 9q22.31 inositol 1,3,4,5,6-pentakisphosphate 2-kinase protein-coding IPPK inositol 1,3,4,5,6-pentakisphosphate 2-kinase O IPK1 homolog|bA476B13.1 (novel protein)|inositol-pentakisphosphate 2-kinase|ins(1,3,4,5,6)P5 2-kinase|insP5 2-kinase 20141207 9606 64781 CERK RP6-59H18.1 LK4|dA59H18.2|dA59H18.3|hCERK MIM:610307|HGNC:HGNC:19256|Ensembl:ENSG00000100422|HPRD:09878|Vega:OTTHUMG00000150395 22 22q13.31 ceramide kinase protein-coding CERK ceramide kinase O acylsphingosine kinase|lipid kinase 4|lipid kinase LK4 20141207 9606 64802 NMNAT1 RP11-807G9.1 LCA9|NMNAT|PNAT1 MIM:608700|HGNC:HGNC:17877|Ensembl:ENSG00000173614|HPRD:16369|Vega:OTTHUMG00000001799 1 1p36.22 nicotinamide nucleotide adenylyltransferase 1 protein-coding NMNAT1 nicotinamide nucleotide adenylyltransferase 1 O NMN adenylyltransferase 1|NaMN adenylyltransferase 1|nicotinamide mononucleotide adenylyltransferase 1|nicotinate-nucleotide adenylyltransferase 1|pyridine nucleotide adenylyltransferase 1 20141207 9606 64834 ELOVL1 CGI-88 Ssc1 MIM:611813|HGNC:HGNC:14418|Ensembl:ENSG00000066322|HPRD:10935|Vega:OTTHUMG00000007422 1 1p34.2 ELOVL fatty acid elongase 1 protein-coding ELOVL1 ELOVL fatty acid elongase 1 O 3-keto acyl-CoA synthase ELOVL1|ELOVL FA elongase 1|elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1|elongation of very long chain fatty acids protein 1|very-long-chain 3-oxoacyl-CoA synthase 1 20141207 9606 64841 GNPNAT1 - GNPNAT|Gpnat1 HGNC:HGNC:19980|Ensembl:ENSG00000100522|HPRD:17046|Vega:OTTHUMG00000152334 14 14q22.1 glucosamine-phosphate N-acetyltransferase 1 protein-coding GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 O glucosamine 6-phosphate N-acetyltransferase|phosphoglucosamine acetylase|phosphoglucosamine transacetylase 20141207 9606 64900 LPIN3 RP4-620E11.3 LIPN3L|SMP2 MIM:605520|HGNC:HGNC:14451|Ensembl:ENSG00000132793|Vega:OTTHUMG00000033056 20 20q12 lipin 3 protein-coding LPIN3 lipin 3 O lipin-3|phosphatidate phosphatase LPIN3 20141210 9606 64902 AGXT2 - AGT2|DAIBAT MIM:612471|HGNC:HGNC:14412|Ensembl:ENSG00000113492|HPRD:10638|Vega:OTTHUMG00000090788 5 5p13 alanine--glyoxylate aminotransferase 2 protein-coding AGXT2 alanine--glyoxylate aminotransferase 2 O (R)-3-amino-2-methylpropionate--pyruvate transaminase|alanine--glyoxylate aminotransferase 2, mitochondrial|beta-ALAAT II|beta-alanine-pyruvate aminotransferase 20141207 9606 65109 UPF3B - HUPF3B|MRX62|MRXS14|RENT3B|UPF3X MIM:300298|HGNC:HGNC:20439|Ensembl:ENSG00000125351|HPRD:02247|Vega:OTTHUMG00000022282 X Xq24 UPF3 regulator of nonsense transcripts homolog B (yeast) protein-coding UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) O hUpf3p-X|mental retardation, X-linked 62|nonsense mRNA reducing factor 3B|regulator of nonsense transcripts 3B|up-frameshift suppressor 3 homolog B|up-frameshift suppressor 3 homolog on chromosome X 20141219 9606 65110 UPF3A RP11-569D9.1 HUPF3A|RENT3A|UPF3 MIM:605530|HGNC:HGNC:20332|Ensembl:ENSG00000169062|HPRD:09274|Vega:OTTHUMG00000017403 13 13q34 UPF3 regulator of nonsense transcripts homolog A (yeast) protein-coding UPF3A UPF3 regulator of nonsense transcripts homolog A (yeast) O hUpf3|nonsense mRNA reducing factor 3A|regulator of nonsense transcripts 3A|up-frameshift suppressor 3 homolog A 20141207 9606 65220 NADK RP1-283E3.6 dJ283E3.1 MIM:611616|HGNC:HGNC:29831|Ensembl:ENSG00000008130|HPRD:16907|Vega:OTTHUMG00000000942 1 1p36.33 NAD kinase protein-coding NADK NAD kinase O poly(P)/ATP NAD kinase 20141207 9606 65263 PYCRL - - HGNC:HGNC:25846|Ensembl:ENSG00000104524|HPRD:15196|Vega:OTTHUMG00000157010 8 8q24.3 pyrroline-5-carboxylate reductase-like protein-coding PYCRL pyrroline-5-carboxylate reductase-like O P5C reductase 3|P5CR 3|pyrroline-5-carboxylate reductase 3|pyrroline-5-carboxylate reductase-like protein 20141207 9606 65985 AACS - ACSF1|SUR-5 MIM:614364|HGNC:HGNC:21298|Ensembl:ENSG00000081760|HPRD:12391|Vega:OTTHUMG00000168550 12 12q24.31 acetoacetyl-CoA synthetase protein-coding AACS acetoacetyl-CoA synthetase O acetoacetate-CoA ligase|acyl-CoA synthetase family member 1|homolog of C. elegans supressor of ras 5 (sur-5)|protein sur-5 homolog 20141207 9606 79001 VKORC1 MSTP134 EDTP308|IMAGE3455200|MST134|MST576|VKCFD2|VKOR MIM:608547|HGNC:HGNC:23663|Ensembl:ENSG00000167397|HPRD:10540|Vega:OTTHUMG00000047408 16 16p11.2 vitamin K epoxide reductase complex, subunit 1 protein-coding VKORC1 vitamin K epoxide reductase complex, subunit 1 O phylloquinone epoxide reductase|vitamin K dependent clotting factors deficiency 2|vitamin K epoxide reductase complex subunit 1|vitamin K1 2,3-epoxide reductase subunit 1|vitamin K1 epoxide reductase (warfarin-sensitive) 20141207 9606 79017 GGCT - C7orf24|CRF21|GCTG|GGC MIM:137170|HGNC:HGNC:21705|Ensembl:ENSG00000006625|HPRD:12912|Vega:OTTHUMG00000128593 7 7p15-p14 gamma-glutamylcyclotransferase protein-coding GGCT gamma-glutamylcyclotransferase O cytochrome c-releasing factor 21|gamma -glutamyl cyclotransferase 20141207 9606 79023 NUP37 - p37 MIM:609264|HGNC:HGNC:29929|Ensembl:ENSG00000075188|HPRD:14853 12 12q23.2 nucleoporin 37kDa protein-coding NUP37 nucleoporin 37kDa O nucleoporin Nup37|nup107-160 subcomplex subunit Nup37 20141207 9606 79053 ALG8 HUSSY-02 CDG1H MIM:608103|HGNC:HGNC:23161|Ensembl:ENSG00000159063|HPRD:10480|Vega:OTTHUMG00000166594 11 11q14.1 ALG8, alpha-1,3-glucosyltransferase protein-coding ALG8 ALG8, alpha-1,3-glucosyltransferase O HUSSY-02|asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog|asparagine-linked glycosylation protein 8 homolog|dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase|dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase|dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase|dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase|dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1,3-glucosyltransferase|probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase 20141219 9606 79071 ELOVL6 - FACE|FAE|LCE MIM:611546|HGNC:HGNC:15829|Ensembl:ENSG00000170522|HPRD:13269|Vega:OTTHUMG00000132547 4 4q25 ELOVL fatty acid elongase 6 protein-coding ELOVL6 ELOVL fatty acid elongase 6 O 3-keto acyl-CoA synthase ELOVL6|ELOVL FA elongase 6|ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)|elongation of very long chain fatty acids protein 6|fatty acid elongase 2|fatty acyl-CoA elongase|hELO2|long-chain fatty-acyl elongase|very-long-chain 3-oxoacyl-CoA synthase 6 20141207 9606 79084 WDR77 HKMT1069 MEP-50|MEP50|Nbla10071|p44|p44/Mep50 MIM:611734|HGNC:HGNC:29652|Ensembl:ENSG00000116455|HPRD:14387|Vega:OTTHUMG00000011748 1 1p13.2 WD repeat domain 77 protein-coding WDR77 WD repeat domain 77 O WD repeat-containing protein 77|androgen receptor cofactor p44|methylosome protein 50 20141207 9606 79087 ALG12 CITF22-1A6.2 CDG1G|ECM39|PP14673|hALG12 MIM:607144|HGNC:HGNC:19358|HPRD:06189 22 22q13.33 ALG12, alpha-1,6-mannosyltransferase protein-coding ALG12 ALG12, alpha-1,6-mannosyltransferase O asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)|asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)|asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog|asparagine-linked glycosylation protein 12 homolog|dol-P-Man dependent alpha-1,6-mannosyltransferase|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase|dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase|dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase|dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase|mannosyltransferase ALG12 homolog|membrane protein SB87 20141219 9606 79143 MBOAT7 XXbac-BCX105G6.4 BB1|LENG4|LPIAT|LRC4|MBOA7|OACT7|hMBOA-7 MIM:606048|HGNC:HGNC:15505|Ensembl:ENSG00000125505|HPRD:06925|Vega:OTTHUMG00000066516 19 19q13.4 membrane bound O-acyltransferase domain containing 7 protein-coding MBOAT7 membrane bound O-acyltransferase domain containing 7 O 1-acylglycerophosphatidylinositol O-acyltransferase|LPLAT 7|bladder and breast carcinoma-overexpressed gene 1 protein|h-mboa-7|leukocyte receptor cluster (LRC) member 4|lyso-PI acyltransferase|lysophosphatidylinositol acyltransferase|lysophospholipid acyltransferase 7|malignant cell expression-enhanced gene/tumor progression-enhanced 20141211 9606 79178 THTPA RP11-66N24.4 THTP|THTPASE MIM:611612|HGNC:HGNC:18987|Ensembl:ENSG00000259431|HPRD:15505|Vega:OTTHUMG00000172558 14 14q11.2 thiamine triphosphatase protein-coding THTPA thiamine triphosphatase O thiamine-triphosphatase 20141207 9606 79369 B3GNT4 UNQ1898/PRO4344 B3GN-T4|beta3Gn-T4 MIM:605864|HGNC:HGNC:15683|Ensembl:ENSG00000176383|HPRD:12058|Vega:OTTHUMG00000168917 12 12q24 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 protein-coding B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 O BGnT-4|beta-1,3-Gn-T4|beta-1,3-N-acetylglucosaminyltransferase 4|beta-1,3-N-acetylglucosaminyltransferase bGn-T4 20141207 9606 79586 CHPF UNQ651/PRO1281 CHSY2|CSS2 MIM:610405|HGNC:HGNC:24291|Ensembl:ENSG00000123989|HPRD:10829|Vega:OTTHUMG00000058929 2 2q35 chondroitin polymerizing factor protein-coding CHPF chondroitin polymerizing factor O N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II|N-acetylgalactosaminyltransferase 2|chondroitin glucuronyltransferase 2|chondroitin sulfate synthase 2|chondroitin-polymerizing factor|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II 20141217 9606 79603 CERS4 - LASS4|Trh1 MIM:615334|HGNC:HGNC:23747|Ensembl:ENSG00000090661|HPRD:13962|Vega:OTTHUMG00000172570 19 19p13.2 ceramide synthase 4 protein-coding CERS4 ceramide synthase 4 O LAG1 homolog, ceramide synthase 4|LAG1 longevity assurance homolog 4 20141207 9606 79611 ACSS3 - - MIM:614356|HGNC:HGNC:24723|Ensembl:ENSG00000111058|HPRD:13385|Vega:OTTHUMG00000170179 12 12q21.31 acyl-CoA synthetase short-chain family member 3 protein-coding ACSS3 acyl-CoA synthetase short-chain family member 3 O AMP-binding enzyme, 33217|acyl-CoA synthetase short-chain family member 3, mitochondrial 20141207 9606 79623 GALNT14 UNQ2434/PRO4994 GALNT15|GalNac-T10|GalNac-T14 MIM:608225|HGNC:HGNC:22946|Ensembl:ENSG00000158089|HPRD:12194|Vega:OTTHUMG00000074077 2 2p23.1 polypeptide N-acetylgalactosaminyltransferase 14 protein-coding GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 O UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T10|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T14|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)|polypeptide GalNAc transferase 14|polypeptide N-acetylgalactosaminyltransferase 15|pp-GaNTase 14|protein-UDP acetylgalactosaminyltransferase 14 20141207 9606 79642 ARSJ UNQ372/PRO708 - MIM:610010|HGNC:HGNC:26286|Ensembl:ENSG00000180801|HPRD:08034|Vega:OTTHUMG00000161067 4 4q26 arylsulfatase family, member J protein-coding ARSJ arylsulfatase family, member J O ASJ|arylsulfatase J 20141207 9606 79644 SRD5A3 - CDG1P|CDG1Q|KRIZI|SRD5A2L|SRD5A2L1 MIM:611715|HGNC:HGNC:25812|Ensembl:ENSG00000128039|HPRD:07825|Vega:OTTHUMG00000128733 4 4q12 steroid 5 alpha-reductase 3 protein-coding SRD5A3 steroid 5 alpha-reductase 3 O 3-oxo-5-alpha-steroid 4-dehydrogenase 3|S5AR 3|SR type 3|polyprenol reductase|probable polyprenol reductase 20141219 9606 79646 PANK3 - - MIM:606161|HGNC:HGNC:19365|HPRD:07312 5 5q34 pantothenate kinase 3 protein-coding PANK3 pantothenate kinase 3 O hPanK3|pantothenic acid kinase 3 20141207 9606 79694 MANEA - ENDO|hEndo MIM:612327|HGNC:HGNC:21072|Ensembl:ENSG00000172469|HPRD:14357|Vega:OTTHUMG00000016296 6 6q16.1 mannosidase, endo-alpha protein-coding MANEA mannosidase, endo-alpha O alpha 1,2-endomannosidase|endo-alpha mannosidase|endomannosidase|glycoprotein endo-alpha-1,2-mannosidase|mandaselin 20141207 9606 79695 GALNT12 - CRCS1|GalNAc-T12 MIM:610290|HGNC:HGNC:19877|Ensembl:ENSG00000119514|HPRD:13561|Vega:OTTHUMG00000020348 9 9q22.33 polypeptide N-acetylgalactosaminyltransferase 12 protein-coding GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 O UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)|colorectal cancer, susceptibility to 1|polypeptide GalNAc transferase 12|pp-GaNTase 12|protein-UDP acetylgalactosaminyltransferase 12 20141207 9606 79717 PPCS RP11-163G10.1 - MIM:609853|HGNC:HGNC:25686|HPRD:07760 1 1p34.2 phosphopantothenoylcysteine synthetase protein-coding PPCS phosphopantothenoylcysteine synthetase O PPC synthetase|phosphopantothenate--cysteine ligase 20141207 9606 79718 TBL1XR1 - C21|DC42|IRA1|TBLR1 MIM:608628|HGNC:HGNC:29529|Ensembl:ENSG00000177565|HPRD:15476|Vega:OTTHUMG00000157140 3 3q26.32 transducin (beta)-like 1 X-linked receptor 1 protein-coding TBL1XR1 transducin (beta)-like 1 X-linked receptor 1 O F-box-like/WD repeat-containing protein TBL1XR1|TBL1-related protein 1|nuclear receptor co-repressor/HDAC3 complex subunit|nuclear receptor corepressor/HDAC3 complex subunit TBLR1|transducin beta-like 1X-related protein 1 20141222 9606 79760 GEMIN7 - SIP3 MIM:607419|HGNC:HGNC:20045|Ensembl:ENSG00000142252|HPRD:07600|Vega:OTTHUMG00000181768 19 19q13.32 gem (nuclear organelle) associated protein 7 protein-coding GEMIN7 gem (nuclear organelle) associated protein 7 O gem-associated protein 7|gemin 7|gemin-7 20141207 9606 79796 ALG9 - CDG1L|DIBD1|LOH11CR1J MIM:606941|HGNC:HGNC:15672|Ensembl:ENSG00000086848|HPRD:09504|Vega:OTTHUMG00000166819 11 11q23 ALG9, alpha-1,2-mannosyltransferase protein-coding ALG9 ALG9, alpha-1,2-mannosyltransferase O alpha-1,2-mannosyltransferase ALG9|asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)|asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase)|asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog|asparagine-linked glycosylation protein 9 homolog|disrupted in bipolar affective disorder 1|disrupted in bipolar disorder protein 1|dol-P-Man dependent alpha-1,2-mannosyltransferase|dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase|dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase|dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase|loss of heterozygosity, 11, chromosomal region 1 gene J product 20141219 9606 79799 UGT2A3 UNQ2559/PRO6239 - HGNC:HGNC:28528|Ensembl:ENSG00000135220|HPRD:08646|Vega:OTTHUMG00000129408 4 4q13.2 UDP glucuronosyltransferase 2 family, polypeptide A3 protein-coding UGT2A3 UDP glucuronosyltransferase 2 family, polypeptide A3 O UDP-glucuronosyltransferase 2A3|UDPGT 2A3 20141207 9606 79814 AGMAT - - HGNC:HGNC:18407|HPRD:12436 1 1p36.21 agmatine ureohydrolase (agmatinase) protein-coding AGMAT agmatine ureohydrolase (agmatinase) O AUH|agmatinase, mitochondrial 20141207 9606 79833 GEMIN6 - - MIM:607006|HGNC:HGNC:20044|HPRD:06110 2 2p22.1 gem (nuclear organelle) associated protein 6 protein-coding GEMIN6 gem (nuclear organelle) associated protein 6 O SIP2|gem-associated protein 6|gemin 6|gemin-6 20141207 9606 79837 PIP4K2C - PIP5K2C HGNC:HGNC:23786|Ensembl:ENSG00000166908|HPRD:15138|Vega:OTTHUMG00000170144 12 12q13.3 phosphatidylinositol-5-phosphate 4-kinase, type II, gamma protein-coding PIP4K2C phosphatidylinositol-5-phosphate 4-kinase, type II, gamma O PI(5)P 4-kinase type II gamma|PIP4KII-gamma|phosphatidylinositol 4-phosphate 5-kinase|phosphatidylinositol 5-phosphate 4-kinase type II gamma|phosphatidylinositol 5-phosphate 4-kinase type-2 gamma|phosphatidylinositol-4-phosphate 5-kinase, type II, gamma|phosphatidylinositol-5-phosphate 4-kinase type-2 gamma 20141207 9606 79868 ALG13 RP1-298J18.2 CDG1S|CXorf45|GLT28D1|MDS031|TDRD13|YGL047W MIM:300776|HGNC:HGNC:30881|Ensembl:ENSG00000101901|HPRD:06542|Vega:OTTHUMG00000022209 X Xq23 ALG13, UDP-N-acetylglucosaminyltransferase subunit protein-coding ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit O N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase|UDP-N-acetylglucosamine transferase subunit ALG13 homolog|asparagine-linked glycosylation 13 homolog|glycosyltransferase 28 domain-containing protein 1|hematopoietic stem/progenitor cells protein MDS031|putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13|tudor domain containing 13 20141219 9606 79887 PLBD1 - - HGNC:HGNC:26215|HPRD:08660 12 12p13.1 phospholipase B domain containing 1 protein-coding PLBD1 phospholipase B domain containing 1 O LAMA-like protein 1|PLB homolog 1|lamina ancestor homolog 1|phospholipase B domain-containing protein 1|phospholipase B-like 1|putative phospholipase B-like 1 20141207 9606 79888 LPCAT1 - AYTL2|PFAAP3|lpcat MIM:610472|HGNC:HGNC:25718|Ensembl:ENSG00000153395|HPRD:08572|Vega:OTTHUMG00000131017 5 5p15.33 lysophosphatidylcholine acyltransferase 1 protein-coding LPCAT1 lysophosphatidylcholine acyltransferase 1 O 1-acylglycerophosphocholine O-acyltransferase|1-alkylglycerophosphocholine O-acetyltransferase|LPC acyltransferase 1|LPCAT-1|acetyl-CoA:lyso-PAF acetyltransferase|acetyl-CoA:lyso-platelet-activating factor acetyltransferase|acyl-CoA:lysophosphatidylcholine acyltransferase 1|acyltransferase like 2|acyltransferase-like 2|lyso-PAF acetyltransferase|lysoPAFAT|lysoPC acyltransferase 1|phosphonoformate immuno-associated protein 3|regulated by phosphonoformate 20141207 9606 79902 NUP85 - Nup75 MIM:170285|HGNC:HGNC:8734|Ensembl:ENSG00000125450|HPRD:01363|Vega:OTTHUMG00000179482 17 17q25.1 nucleoporin 85kDa protein-coding NUP85 nucleoporin 85kDa O 85 kDa nucleoporin|frount|nuclear pore complex protein Nup85|nucleoporin Nup75|nucleoporin Nup85|pericentrin-1 20141207 9606 79944 L2HGDH - C14orf160 MIM:609584|HGNC:HGNC:20499|Ensembl:ENSG00000087299|HPRD:12640|Vega:OTTHUMG00000140289 14 14q21.3 L-2-hydroxyglutarate dehydrogenase protein-coding L2HGDH L-2-hydroxyglutarate dehydrogenase O 2-hydroxyglutarate dehydrogenase|L-2-hydroxyglutarate dehydrogenase, mitochondrial|L-alpha-hydroxyglutarate dehydrogenase|alpha-hydroxyglutarate oxidoreductase|alpha-ketoglutarate reductase|duranin 20141207 9606 79993 ELOVL7 - - MIM:614451|HGNC:HGNC:26292|Ensembl:ENSG00000164181|HPRD:18700|Vega:OTTHUMG00000162254 5 5q12.1 ELOVL fatty acid elongase 7 protein-coding ELOVL7 ELOVL fatty acid elongase 7 O 3-keto acyl-CoA synthase ELOVL7|ELOVL FA elongase 7|ELOVL family member 7, elongation of long chain fatty acids|elongation of very long chain fatty acids protein 7|very-long-chain 3-oxoacyl-CoA synthase 7 20141207 9606 80025 PANK2 RP4-681N20.1 C20orf48|HARP|HSS|NBIA1|PKAN MIM:606157|HGNC:HGNC:15894|Ensembl:ENSG00000125779|Vega:OTTHUMG00000031768 20 20p13 pantothenate kinase 2 protein-coding PANK2 pantothenate kinase 2 O Hallervorden-Spatz syndrome|pantothenate kinase 2, mitochondrial|pantothenic acid kinase 2 20141219 9606 80031 SEMA6D - - MIM:609295|HGNC:HGNC:16770|Ensembl:ENSG00000137872|HPRD:10221|Vega:OTTHUMG00000172110 15 15q21.1 sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D protein-coding SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D O semaphorin-6D 20141207 9606 80055 PGAP1 UNQ3024/PRO9822 Bst1|ISPD3024|MRT42|SPG67 MIM:611655|HGNC:HGNC:25712|Ensembl:ENSG00000197121|HPRD:10147|Vega:OTTHUMG00000132743 2 2q33.1 post-GPI attachment to proteins 1 protein-coding PGAP1 post-GPI attachment to proteins 1 O GPI deacylase|GPI inositol-deacylase|hPGAP1|post-GPI attachment to proteins factor 1 20141207 9606 80142 PTGES2 RP11-395P17.2 C9orf15|GBF-1|GBF1|PGES2|mPGES-2 MIM:608152|HGNC:HGNC:17822|Ensembl:ENSG00000148334|HPRD:07458|Vega:OTTHUMG00000020730 9 9q34.11 prostaglandin E synthase 2 protein-coding PTGES2 prostaglandin E synthase 2 O GATE-binding factor 1|gamma-interferon-activated transcriptional element-binding factor 1|mPGE synthase-2|membrane-associated prostaglandin E synthase 2|membrane-associated prostaglandin E synthase-2|microsomal prostaglandin E synthase-2|prostaglandin-H(2) E-isomerase 20141207 9606 80146 UXS1 UNQ2538/PRO6079 SDR6E1|UGD MIM:609749|HGNC:HGNC:17729|Ensembl:ENSG00000115652|HPRD:15642|Vega:OTTHUMG00000153150 2 2q12.2 UDP-glucuronate decarboxylase 1 protein-coding UXS1 UDP-glucuronate decarboxylase 1 O UDP-glucuronic acid decarboxylase 1|UXS-1|short chain dehydrogenase/reductase family 6E, member 12 20141209 9606 80153 EDC3 PP844 LSM16|YJDC|YJEFN2 MIM:609842|HGNC:HGNC:26114|Ensembl:ENSG00000179151|HPRD:07954|Vega:OTTHUMG00000142815 15 15q24.1 enhancer of mRNA decapping 3 protein-coding EDC3 enhancer of mRNA decapping 3 O LSM16 homolog (EDC3, S. cerevisiae)|enhancer of mRNA decapping 3 homolog|enhancer of mRNA-decapping protein 3|hYjeF_N2|hYjeF_N2-15q23|yjeF N-terminal domain-containing protein 2|yjeF domain containing|yjeF domain-containing protein 1|yjeF_N2 20141207 9606 80267 EDEM3 - C1orf22 MIM:610214|HGNC:HGNC:16787|Ensembl:ENSG00000116406|HPRD:10724|Vega:OTTHUMG00000035387 1 1q25 ER degradation enhancer, mannosidase alpha-like 3 protein-coding EDEM3 ER degradation enhancer, mannosidase alpha-like 3 O ER degradation-enhancing -mannosidase-like protein 3|ER degradation-enhancing alpha-mannosidase-like 3|ER degradation-enhancing alpha-mannosidase-like protein 3|alpha-1,2-mannosidase EDEM3 20141207 9606 80270 HSD3B7 - CBAS1|PFIC4|SDR11E3 MIM:607764|HGNC:HGNC:18324|Ensembl:ENSG00000099377|HPRD:09680|Vega:OTTHUMG00000132417 16 16p11.2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 protein-coding HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 O 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase|3 beta-hydroxysteroid dehydrogenase type 7|3 beta-hydroxysteroid dehydrogenase type VII|3-beta-HSD VII|3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase|C(27)-3BETA-HSD|c(27) 3-beta-HSD|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase|short chain dehydrogenase/reductase family 11E, member 3 20141207 9606 80273 GRPEL1 - HMGE MIM:606173|HGNC:HGNC:19696|HPRD:07550 4 4p16 GrpE-like 1, mitochondrial (E. coli) protein-coding GRPEL1 GrpE-like 1, mitochondrial (E. coli) O GrpE-like protein cochaperone|grpE protein homolog 1, mitochondrial|mt-GrpE#1 20141207 9606 80308 FLAD1 PP591 FAD1|FADS MIM:610595|HGNC:HGNC:24671|Ensembl:ENSG00000160688|HPRD:17887|Vega:OTTHUMG00000037416 1 1q21.3 flavin adenine dinucleotide synthetase 1 protein-coding FLAD1 flavin adenine dinucleotide synthetase 1 O FAD pyrophosphorylase|FAD synthase|FAD synthetase|FAD-synthetase|FAD1 flavin adenine dinucleotide synthetase homolog|FMN adenylyltransferase|Fad1, flavin adenine dinucleotide synthetase, homolog|flavin adenine dinucleotide synthase 20141207 9606 80339 PNPLA3 RP4-796I17.1 ADPN|C22orf20|iPLA(2)epsilon MIM:609567|HGNC:HGNC:18590|Ensembl:ENSG00000100344|HPRD:12430|Vega:OTTHUMG00000150555 22 22q13.31 patatin-like phospholipase domain containing 3 protein-coding PNPLA3 patatin-like phospholipase domain containing 3 O acylglycerol O-acyltransferase|adiponutrin|calcium-independent phospholipase A2-epsilon|iPLA2-epsilon|iPLA2epsilon|patatin-like phospholipase domain-containing protein 3 20141222 9606 80347 COASY PSEC0106 DPCK|NBIA6|NBP|PPAT|UKR1|pOV-2 MIM:609855|HGNC:HGNC:29932|Ensembl:ENSG00000068120|HPRD:13080|Vega:OTTHUMG00000180245 17 17q12-q21 CoA synthase protein-coding COASY CoA synthase O bifunctional coenzyme A synthase|bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase|nucleotide binding protein|phosphopantetheine adenylyltransferase / dephosphocoenzyme A kinase 20141207 9606 80704 SLC19A3 - BBGD|THMD2|THTR2 MIM:606152|HGNC:HGNC:16266|Ensembl:ENSG00000135917|HPRD:07311|Vega:OTTHUMG00000133185 2 2q37 solute carrier family 19 (thiamine transporter), member 3 protein-coding SLC19A3 solute carrier family 19 (thiamine transporter), member 3 O solute carrier family 19, member 3|thTr-2|thiamine transporter 2 20141222 9606 80736 SLC44A4 DAAP-66K18.1 C6orf29|CTL4|NG22|TPPT MIM:606107|HGNC:HGNC:13941|Ensembl:ENSG00000204385|HPRD:12087|Vega:OTTHUMG00000031133 6 6p21.3 solute carrier family 44, member 4 protein-coding SLC44A4 solute carrier family 44, member 4 O choline transporter-like protein 4 20141207 9606 80765 STARD5 - - MIM:607050|HGNC:HGNC:18065|HPRD:09517 15 15q26 StAR-related lipid transfer (START) domain containing 5 protein-coding STARD5 StAR-related lipid transfer (START) domain containing 5 O START domain containing 5|START domain-containing protein 5|stAR-related lipid transfer protein 5 20141207 9606 80896 NPL RP11-249O6.1 C112|C1orf13|NAL|NPL1 MIM:611412|HGNC:HGNC:16781|Ensembl:ENSG00000135838|HPRD:14836|Vega:OTTHUMG00000035321 1 1q25 N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) protein-coding NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) O N-acetylneuraminate lyase|N-acetylneuraminic acid aldolase|NALase|dihydrodipicolinate synthetase homolog 1|sialate-pyruvate lyase|sialic acid aldolase 20141207 9606 81027 TUBB1 - - MIM:612901|HGNC:HGNC:16257|Ensembl:ENSG00000101162|HPRD:18243|Vega:OTTHUMG00000032860 20 20q13.32 tubulin, beta 1 class VI protein-coding TUBB1 tubulin, beta 1 class VI O beta tubulin 1, class VI|class VI beta-tubulin|tubulin beta-1 chain 20141207 9606 81034 SLC25A32 - MFT|MFTC MIM:610815|HGNC:HGNC:29683|Ensembl:ENSG00000164933|HPRD:11301|Vega:OTTHUMG00000164790 8 8q22.3 solute carrier family 25 (mitochondrial folate carrier), member 32 protein-coding SLC25A32 solute carrier family 25 (mitochondrial folate carrier), member 32 O mitochondrial folate transporter/carrier|solute carrier family 25 (mitochondrial folate carrier) , member 32|solute carrier family 25, member 32 20141207 9606 81490 PTDSS2 - PSS2 MIM:612793|HGNC:HGNC:15463|Ensembl:ENSG00000174915|HPRD:17927|Vega:OTTHUMG00000119087 11 11p15.5 phosphatidylserine synthase 2 protein-coding PTDSS2 phosphatidylserine synthase 2 O PSS-2|ptdSer synthase 2|serine-exchange enzyme II 20141207 9606 81537 SGPP1 - SPPase1 MIM:612826|HGNC:HGNC:17720|Ensembl:ENSG00000126821|HPRD:10226|Vega:OTTHUMG00000029080 14 14q23.2 sphingosine-1-phosphate phosphatase 1 protein-coding SGPP1 sphingosine-1-phosphate phosphatase 1 O hSPP1|hSPPase1|sphingosine-1-phosphatase 1|spp1 20141211 9606 81579 PLA2G12A FKSG38 GXII|PLA2G12|ROSSY MIM:611652|HGNC:HGNC:18554|Ensembl:ENSG00000123739|HPRD:17858|Vega:OTTHUMG00000131915 4 4q25 phospholipase A2, group XIIA protein-coding PLA2G12A phospholipase A2, group XIIA O GXII sPLA2|group XII secreted phospholipase A2|group XIIA secreted phospholipase A2|group XIIA secretory phospholipase A2|phosphatidylcholine 2-acylhydrolase 12A|phospholipase A2, group XII|sPLA2-XII 20141207 9606 81693 AMN UNQ513/PRO1028 PRO1028|amnionless MIM:605799|HGNC:HGNC:14604|Ensembl:ENSG00000166126|HPRD:09314|Vega:OTTHUMG00000171897 14 14q32.3 amnion associated transmembrane protein protein-coding AMN amnion associated transmembrane protein O amnionless homolog|protein amnionless|visceral endoderm-specific type 1 transmembrane protein 20141207 9606 81857 MED25 TCBAP0758 ACID1|ARC92|CMT2B2|P78|PTOV2 MIM:610197|HGNC:HGNC:28845|Ensembl:ENSG00000104973|HPRD:14380|Vega:OTTHUMG00000183161 19 19q13.3 mediator complex subunit 25 protein-coding MED25 mediator complex subunit 25 O ARC/mediator transcriptional coactivator subunit|activator interaction domain-containing protein 1|activator-recruited cofactor 92 kDa component|mediator of RNA polymerase II transcription subunit 25|mediator of RNA polymerase II transcription, subunit 25 homolog|prostate-derived protein 78 kDa 20141219 9606 81888 HYI RP11-506B15.5 HT036 HGNC:HGNC:26948|Ensembl:ENSG00000178922|HPRD:11039|Vega:OTTHUMG00000007502 1 1p34.2 hydroxypyruvate isomerase (putative) protein-coding HYI hydroxypyruvate isomerase (putative) O endothelial cell apoptosis protein E-CE1|hydroxypyruvate isomerase homolog|putative hydroxypyruvate isomerase 20141207 9606 81929 SEH1L - SEC13L|SEH1A|SEH1B|Seh1 MIM:609263|HGNC:HGNC:30379|Ensembl:ENSG00000085415|HPRD:15319|Vega:OTTHUMG00000181909 18 18p11.21 SEH1-like (S. cerevisiae) protein-coding SEH1L SEH1-like (S. cerevisiae) O nucleoporin SEH1|nup107-160 subcomplex subunit SEH1|sec13 like protein|sec13-like protein 20141207 9606 83401 ELOVL3 - CIG-30|CIG30 MIM:611815|HGNC:HGNC:18047|Ensembl:ENSG00000119915|HPRD:16858|Vega:OTTHUMG00000018951 10 10q24.32 ELOVL fatty acid elongase 3 protein-coding ELOVL3 ELOVL fatty acid elongase 3 O 3-keto acyl-CoA synthase ELOVL3|ELOVL FA elongase 3|cold-inducible glycoprotein of 30 kDa|elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3|elongation of very long chain fatty acids protein 3|very-long-chain 3-oxoacyl-CoA synthase 3 20141207 9606 83475 DOHH - HLRC1|hDOHH MIM:611262|HGNC:HGNC:28662|Ensembl:ENSG00000129932|HPRD:14627|Vega:OTTHUMG00000180762 19 19p13.3 deoxyhypusine hydroxylase/monooxygenase protein-coding DOHH deoxyhypusine hydroxylase/monooxygenase O HEAT-like (PBS lyase) repeat containing 1|HEAT-like repeat-containing protein 1|deoxyhypusine dioxygenase|deoxyhypusine hydroxylase|deoxyhypusine monooxygenase 20141207 9606 83539 CHST9 UNQ2549/PRO6175 GALNAC4ST-2 MIM:610191|HGNC:HGNC:19898|Ensembl:ENSG00000154080|Vega:OTTHUMG00000179469 18 18q11.2 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 protein-coding CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 O GalNAc-4-sulfotransferase 2|N-acetylgalactosamine 4-O-sulfotransferase 2|carbohydrate sulfotransferase 9|galNAc-4-O-sulfotransferase 2 20141207 9606 83549 UCK1 RP11-334J6.5 URK1 MIM:609328|HGNC:HGNC:14859|Ensembl:ENSG00000130717|HPRD:18256|Vega:OTTHUMG00000020823 9 9q34.13 uridine-cytidine kinase 1 protein-coding UCK1 uridine-cytidine kinase 1 O UCK 1|cytidine monophosphokinase 1|uridine monophosphokinase 1 20141207 9606 83594 NUDT12 - - MIM:609232|HGNC:HGNC:18826|Ensembl:ENSG00000112874|HPRD:10123|Vega:OTTHUMG00000128739 5 5q21.2 nudix (nucleoside diphosphate linked moiety X)-type motif 12 protein-coding NUDT12 nudix (nucleoside diphosphate linked moiety X)-type motif 12 O nucleoside diphosphate linked moiety X-type motif 12|nucleoside diphosphate-linked moiety X motif 12|nudix motif 12|peroxisomal NADH pyrophosphatase NUDT12 20141207 9606 83729 INHBE - - MIM:612031|HGNC:HGNC:24029|Ensembl:ENSG00000139269|HPRD:11047|Vega:OTTHUMG00000169995 12 12q13.3 inhibin, beta E protein-coding INHBE inhibin, beta E O activin beta E|activin beta-E chain|inhibin beta E chain 20141207 9606 83752 LONP2 - LONP|LONPL HGNC:HGNC:20598|HPRD:07491 16 16q12.1 lon peptidase 2, peroxisomal protein-coding LONP2 lon peptidase 2, peroxisomal O lon protease 2|lon protease homolog 2, peroxisomal|lon protease-like protein 2|peroxisomal LON protease like|peroxisomal Lon protease homolog 2 20141207 9606 83884 SLC25A2 - ORC2|ORNT2 MIM:608157|HGNC:HGNC:22921|Ensembl:ENSG00000120329|HPRD:12180|Vega:OTTHUMG00000129604 5 5q31 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 protein-coding SLC25A2 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 O mitochondrial ornithine transporter 2|ornithine transporter 2|solute carrier family 25 member 2 20141207 9606 84002 B3GNT5 - B3GN-T5|beta3Gn-T5 MIM:615333|HGNC:HGNC:15684|Ensembl:ENSG00000176597|HPRD:12511|Vega:OTTHUMG00000158436 3 3q28 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 protein-coding B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 O BGnT-5|UDP-GlcNAc:beta-Gal beta-1,3-N-acetylglucosaminyltransferase 5|beta 1,3 N-acetyglucosaminyltransferase Lc3 synthase|beta-1,3-Gn-T5|beta-1,3-N-acetylglucosaminyltransferase 5|beta-1,3-N-acetylglucosaminyltransferase bGnT-5|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase|lactotriaosylceramide synthase|lc(3)Cer synthase|lc3 synthase 20141207 9606 84172 POLR1B - RPA135|RPA2|Rpo1-2 MIM:602000|HGNC:HGNC:20454|Ensembl:ENSG00000125630|HPRD:06852|Vega:OTTHUMG00000131314 2 2q13 polymerase (RNA) I polypeptide B, 128kDa protein-coding POLR1B polymerase (RNA) I polypeptide B, 128kDa O DNA-directed RNA polymerase I 135 kDa polypeptide|DNA-directed RNA polymerase I 135kDa polypeptide|DNA-directed RNA polymerase I subunit RPA2|RNA polymerase I subunit 2 20141207 9606 84188 FAR1 UNQ2423/PRO4981 MLSTD2|SDR10E1 MIM:616107|HGNC:HGNC:26222|Ensembl:ENSG00000197601|HPRD:14724|Vega:OTTHUMG00000165743 11 11p15.2 fatty acyl CoA reductase 1 protein-coding FAR1 fatty acyl CoA reductase 1 O fatty acyl-CoA reductase 1|male sterility domain containing 2|male sterility domain-containing protein 2|putative fatty acyl reductase|short chain dehydrogenase/reductase family 10E, member 1 20141207 9606 84245 MRI1 UNQ6390/PRO21135 MRDI|MTNA|Ypr118w MIM:615105|HGNC:HGNC:28469|Ensembl:ENSG00000037757|HPRD:14548|Vega:OTTHUMG00000180867 19 19p13.2 methylthioribose-1-phosphate isomerase 1 protein-coding MRI1 methylthioribose-1-phosphate isomerase 1 O M1Pi|MTR-1-P isomerase|S-methyl-5-thioribose-1-phosphate isomerase 1|mediator of RhoA-dependent invasion|methylthioribose-1-phosphate isomerase|methylthioribose-1-phosphate isomerase homolog|translation initiation factor eIF-2B subunit alpha/beta/delta-like protein 20141207 9606 84246 MED10 L6 NUT2|TRG20 MIM:612382|HGNC:HGNC:28760|Ensembl:ENSG00000133398|HPRD:14680|Vega:OTTHUMG00000161682 5 5p15.31 mediator complex subunit 10 protein-coding MED10 mediator complex subunit 10 O TRG-17|TRG-20|mediator of RNA polymerase II transcription subunit 10|mediator of RNA polymerase II transcription, subunit 10|transformation-related gene 17 protein|transformation-related gene 20 protein 20141207 9606 84264 HAGHL - - HGNC:HGNC:14177|Ensembl:ENSG00000103253|HPRD:17087|Vega:OTTHUMG00000170560 16 16p13.3 hydroxyacylglutathione hydrolase-like protein-coding HAGHL hydroxyacylglutathione hydrolase-like O GLO2-like/ RJD12|hydroxyacylglutathione hydrolase-like protein 20141207 9606 84265 POLR3GL - RPC32HOM|flj32422 HGNC:HGNC:28466|Ensembl:ENSG00000121851|HPRD:14546|Vega:OTTHUMG00000013739 1 1q21.1 polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like protein-coding POLR3GL polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like O DNA-directed RNA polymerase III subunit G-like|DNA-directed RNA polymerase III subunit RPC7-like|RNA polymerase III subunit C7-like|RPC32-like protein|alternative RNA polymerase III subunit 32 20141207 9606 84532 ACSS1 RP4-568C11.1 ACAS2L|ACECS1|AceCS2L MIM:614355|HGNC:HGNC:16091|Ensembl:ENSG00000154930|HPRD:12413|Vega:OTTHUMG00000032112 20 20p11.23-p11.21 acyl-CoA synthetase short-chain family member 1 protein-coding ACSS1 acyl-CoA synthetase short-chain family member 1 O acetate--CoA ligase 2|acetyl-coenzyme A synthetase 2-like, mitochondrial 20141207 9606 84617 TUBB6 - HsT1601|TUBB-5 MIM:615103|HGNC:HGNC:20776|Ensembl:ENSG00000176014|HPRD:11349|Vega:OTTHUMG00000131692 18 18p11.21 tubulin, beta 6 class V protein-coding TUBB6 tubulin, beta 6 class V O class V beta-tubulin|tubulin beta MGC4083|tubulin beta class V|tubulin beta-6 chain 20141207 9606 84618 NT5C1A - CN-I|CN-IA|CN1|CN1A|CNI MIM:610525|HGNC:HGNC:17819|Ensembl:ENSG00000116981|HPRD:14844|Vega:OTTHUMG00000009244 1 1p34.3-p33 5'-nucleotidase, cytosolic IA protein-coding NT5C1A 5'-nucleotidase, cytosolic IA O AMP-specific 5'-NT|cytosolic 5' nucleotidase, type 1A|cytosolic 5'-nucleotidase 1A|cytosolic 5'-nucleotidase IA 20141216 9606 84647 PLA2G12B FKSG71 GXIIB|GXIIIsPLA2|PLA2G13 MIM:611653|HGNC:HGNC:18555|Ensembl:ENSG00000138308|HPRD:10155|Vega:OTTHUMG00000018446 10 10q22.1 phospholipase A2, group XIIB protein-coding PLA2G12B phospholipase A2, group XIIB O group XIIB secretory phospholipase A2-like protein|group XIII secreted phospholipase A2|group XIII secretory phospholipase A2-like protein|phospholipase A2, group XIII|sPLA2-GXIIB 20141207 9606 84649 DGAT2 HMFN1045 ARAT|GS1999FULL MIM:606983|HGNC:HGNC:16940|Ensembl:ENSG00000062282|HPRD:07376|Vega:OTTHUMG00000165338 11 11q13.5 diacylglycerol O-acyltransferase 2 protein-coding DGAT2 diacylglycerol O-acyltransferase 2 O acyl-CoA retinol O-fatty-acyltransferase|diacylglycerol O-acyltransferase homolog 2|diacylglycerol O-acyltransferase-like protein 2|diglyceride acyltransferase 2|retinol O-fatty-acyltransferase 20141207 9606 84693 MCEE - GLOD2 MIM:608419|HGNC:HGNC:16732|Ensembl:ENSG00000124370|HPRD:12229|Vega:OTTHUMG00000129709 2 2p13.3 methylmalonyl CoA epimerase protein-coding MCEE methylmalonyl CoA epimerase O DL-methylmalonyl-CoA racemase|glyoxalase domain containing 2|methylmalonyl-CoA epimerase, mitochondrial 20141219 9606 84706 GPT2 - ALT2 MIM:138210|HGNC:HGNC:18062|Ensembl:ENSG00000166123|HPRD:06307|Vega:OTTHUMG00000132541 16 16q12.1 glutamic pyruvate transaminase (alanine aminotransferase) 2 protein-coding GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 O GPT 2|alanine aminotransferase 2|glutamate pyruvate transaminase 2|glutamic--alanine transaminase 2|glutamic--pyruvic transaminase 2|glutamic-pyruvate transaminase 2 20141207 9606 84720 PIGO RP11-182N22.4 HPMRS2 MIM:614730|HGNC:HGNC:23215|Ensembl:ENSG00000165282|HPRD:15134|Vega:OTTHUMG00000019854 9 9p13.3 phosphatidylinositol glycan anchor biosynthesis, class O protein-coding PIGO phosphatidylinositol glycan anchor biosynthesis, class O O GPI ethanolamine phosphate transferase 3|phosphatidylinositol-glycan biosynthesis class O protein 20141207 9606 84735 CNDP1 UNQ1915/PRO4380 CN1|CPGL2|HsT2308 MIM:609064|HGNC:HGNC:20675|Ensembl:ENSG00000150656|HPRD:09883|HPRD:09894|Vega:OTTHUMG00000132852 18 18q22.3 carnosine dipeptidase 1 (metallopeptidase M20 family) protein-coding CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) O CNDP dipeptidase 1|beta-Ala-His dipeptidase|carnosinase 1|glutamate carboxypeptidase-like protein 2|serum carnosinase 20141207 9606 84752 B3GNT9 UNQ1922/PRO4397 - HGNC:HGNC:28714|Ensembl:ENSG00000237172|HPRD:14651|Vega:OTTHUMG00000173315 16 16q22.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 protein-coding B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 O BGnT-9|beta-1,3-Gn-T9|beta-1,3-N-acetylglucosaminyltransferase 9|beta-1,3-galactosyltransferase-related protein|beta3Gn-T9 20141207 9606 84790 TUBA1C - TUBA6|bcm948 HGNC:HGNC:20768|Ensembl:ENSG00000167553|HPRD:06747|Vega:OTTHUMG00000169497 12 12q13.12 tubulin, alpha 1c protein-coding TUBA1C tubulin, alpha 1c O alpha-tubulin 6|tubulin alpha-1C chain|tubulin alpha-6 chain|tubulin, alpha 6 20141218 9606 84803 AGPAT9 HMFN0839 AGPAT 10|AGPAT8|GPAT3|LPAAT-theta|MAG1 MIM:610958|HGNC:HGNC:28157|Ensembl:ENSG00000138678|HPRD:14417|Vega:OTTHUMG00000130431 4 4q21.23 1-acylglycerol-3-phosphate O-acyltransferase 9 protein-coding AGPAT9 1-acylglycerol-3-phosphate O-acyltransferase 9 O 1-AGP acyltransferase 9|1-AGPAT 9|1-acyl-sn-glycerol-3-phosphate O-acyltransferase 10|1-acyl-sn-glycerol-3-phosphate O-acyltransferase 9|1-acylglycerol-3-phosphate O-acyltransferase 8|GPAT-3|MAG-1|acyl-CoA:glycerol-3-phosphate acyltransferase 3|endoplasmic reticulum associated GPAT|glycerol-3-phosphate acyltransferase 3|hGPAT3|lung cancer metastasis-associated protein 1|lysophosphatidic acid acyltransferase theta|lysophosphatidic acid acyltransferase, theta 20141207 9606 84812 PLCD4 - - MIM:605939|HGNC:HGNC:9062|Ensembl:ENSG00000115556|HPRD:07296|Vega:OTTHUMG00000154743 2 2q35 phospholipase C, delta 4 protein-coding PLCD4 phospholipase C, delta 4 O 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-4|PLC delta4|phosphoinositide phospholipase C-delta-4 20141207 9606 84890 ADO - C10orf22 MIM:611392|HGNC:HGNC:23506|Ensembl:ENSG00000181915|HPRD:12566|Vega:OTTHUMG00000018306 10 10q21.3 2-aminoethanethiol (cysteamine) dioxygenase protein-coding ADO 2-aminoethanethiol (cysteamine) dioxygenase O 2-aminoethanethiol dioxygenase|cysteamine (2-aminoethanethiol) dioxygenase (ADO)|cysteamine dioxygenase 20141207 9606 84920 ALG10 - ALG10A|DIE2|KCR1 MIM:603313|HGNC:HGNC:23162|Ensembl:ENSG00000139133|Vega:OTTHUMG00000169285 12 12p11.1 ALG10, alpha-1,2-glucosyltransferase protein-coding ALG10 ALG10, alpha-1,2-glucosyltransferase O alpha-1,2-glucosyltransferase ALG10-A|alpha-2-glucosyltransferase ALG10-A|alpha2-glucosyltransferase|asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase)|asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog|asparagine-linked glycosylation protein 10 homolog A|derepression of ITR1 expression 2 homolog|dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase|dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase|potassium channel regulator 1 20141207 9606 85365 ALG2 RP11-13B9.1 CDGIi|NET38|hALPG2 MIM:607905|HGNC:HGNC:23159|HPRD:09716 9 9q22.33 ALG2, alpha-1,3/1,6-mannosyltransferase protein-coding ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase O GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase|GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase|GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase|alpha-1,3-mannosyltransferase ALG2|alpha-1,3/1,6-mannosyltransferase ALG2|asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)|asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)|asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog|asparagine-linked glycosylation protein 2 homolog|homolog of yeast ALG2 20141222 9606 85456 TNKS1BP1 - TAB182 MIM:607104|HGNC:HGNC:19081|Ensembl:ENSG00000149115|HPRD:06164|Vega:OTTHUMG00000167022 11 11q12.1 tankyrase 1 binding protein 1, 182kDa protein-coding TNKS1BP1 tankyrase 1 binding protein 1, 182kDa O 182 kDa tankyrase-1-binding protein|tankyrase 1-binding protein of 182 kDa 20141207 9606 85465 EPT1 - SELI|SEPI MIM:607915|HGNC:HGNC:29361|Ensembl:ENSG00000138018|HPRD:07616|Vega:OTTHUMG00000151931 2 2p23.3 ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) protein-coding EPT1 ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) O ethanolaminephosphotransferase 1|ethanolaminephosphotransferase1|hEPT1|selenoprotein I 20141207 9606 87178 PNPT1 - COXPD13|DFNB70|OLD35|PNPASE|old-35 MIM:610316|HGNC:HGNC:23166|Ensembl:ENSG00000138035|HPRD:18493|Vega:OTTHUMG00000129335 2 2p15 polyribonucleotide nucleotidyltransferase 1 protein-coding PNPT1 polyribonucleotide nucleotidyltransferase 1 O 3'-5' RNA exonuclease OLD35|PNPase 1|PNPase old-35|polynucleotide phosphorylase 1|polynucleotide phosphorylase-like protein|polyribonucleotide nucleotidyltransferase 1, mitochondrial 20141207 9606 89869 PLCZ1 - NYD-SP27|PLC-zeta-1|PLCzeta MIM:608075|HGNC:HGNC:19218|Ensembl:ENSG00000139151|HPRD:06996|Vega:OTTHUMG00000168937 12 12p12.3 phospholipase C, zeta 1 protein-coding PLCZ1 phospholipase C, zeta 1 O 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1|PI-phospholipase C zeta 1|PLC-zeta-1|phosphoinositide phospholipase C-zeta-1|testis-development related NYD-SP27 20141207 9606 89874 SLC25A21 - ODC|ODC1 MIM:607571|HGNC:HGNC:14411|HPRD:12124 14 14q11.2 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 protein-coding SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 O mitochondrial 2-oxodicarboxylate carrier|oxodicarboxylate carrier|solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21|solute carrier family 25 member 21 20141207 9606 90161 HS6ST2 RP3-435D1.3 - MIM:300545|HGNC:HGNC:19133|Ensembl:ENSG00000171004|HPRD:06590|Vega:OTTHUMG00000022430 X Xq26.2 heparan sulfate 6-O-sulfotransferase 2 protein-coding HS6ST2 heparan sulfate 6-O-sulfotransferase 2 O HS6ST-2|heparan-sulfate 6-O-sulfotransferase 2 20141207 9606 90390 MED30 - MED30S|THRAP6|TRAP25 MIM:610237|HGNC:HGNC:23032|Ensembl:ENSG00000164758|HPRD:11631|Vega:OTTHUMG00000164920 8 8q24.11 mediator complex subunit 30 protein-coding MED30 mediator complex subunit 30 O TRAP/Mediator complex component TRAP25|mediator of RNA polymerase II transcription subunit 30|putative mediator of RNA polymerase II transcription subunit 30|thyroid hormone receptor associated protein 6|thyroid hormone receptor-associated protein 6|thyroid hormone receptor-associated protein complex 25 kDa component 20141207 9606 90411 MCFD2 - F5F8D|F5F8D2|LMAN1IP|SDNSF MIM:607788|HGNC:HGNC:18451|Ensembl:ENSG00000180398|HPRD:09693|Vega:OTTHUMG00000153100 2 2p21 multiple coagulation factor deficiency 2 protein-coding MCFD2 multiple coagulation factor deficiency 2 O multiple coagulation factor deficiency protein 2|neural stem cell-derived neuronal survival protein 20141207 9606 90701 SEC11C - SEC11L3|SPC21|SPCS4C HGNC:HGNC:23400|Ensembl:ENSG00000166562|HPRD:15310|Vega:OTTHUMG00000132762 18 18q21.32 SEC11 homolog C (S. cerevisiae) protein-coding SEC11C SEC11 homolog C (S. cerevisiae) O SEC11-like 3|SEC11-like protein 3|SPase 21 kDa subunit|microsomal signal peptidase 21 kDa subunit|signal peptidase complex catalytic subunit SEC11C 20141207 9606 91012 CERS5 - LASS5|Trh4 MIM:615335|HGNC:HGNC:23749|Ensembl:ENSG00000139624|HPRD:13963|Vega:OTTHUMG00000169819 12 12q13.12 ceramide synthase 5 protein-coding CERS5 ceramide synthase 5 O LAG1 homolog, ceramide synthase 5|LAG1 longevity assurance homolog 5 20141207 9606 91703 ACY3 - ACY-3|HCBP1 MIM:614413|HGNC:HGNC:24104|Ensembl:ENSG00000132744|HPRD:12422|Vega:OTTHUMG00000167283 11 11q13.2 aspartoacylase (aminocyclase) 3 protein-coding ACY3 aspartoacylase (aminocyclase) 3 O HCV core-binding protein 1|N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming)|acylase III|aminoacylase-3|aspartoacylase-2|hepatitis C virus core-binding protein 1 20141207 9606 91734 IDI2 - IPPI2 MIM:615389|HGNC:HGNC:23487|Ensembl:ENSG00000148377|HPRD:17127|Vega:OTTHUMG00000017537 10 10p15.3 isopentenyl-diphosphate delta isomerase 2 protein-coding IDI2 isopentenyl-diphosphate delta isomerase 2 O IPP isomerase 2|diphosphate dimethylallyl diphosphate isomerase 2|isopentenyl pyrophosphate isomerase 2|isopentenyl-diphosphate Delta-isomerase 2|isopentenyl-diphosphate delta-isomerase 2 20141207 9606 91869 RFT1 - CDG1N MIM:611908|HGNC:HGNC:30220|Ensembl:ENSG00000163933|HPRD:15239|Vega:OTTHUMG00000074035 3 3p21.1 RFT1 homolog (S. cerevisiae) protein-coding RFT1 RFT1 homolog (S. cerevisiae) O RFT1, requiring fifty three 1 homolog|congenital disorder of glycosylation 1N|protein RFT1 homolog|putative endoplasmic reticulum multispan transmembrane protein 20141219 9606 92483 LDHAL6B - LDH6B|LDHAL6|LDHL HGNC:HGNC:21481|Ensembl:ENSG00000171989|HPRD:13981|Vega:OTTHUMG00000132714 15 15q22.2 lactate dehydrogenase A-like 6B protein-coding LDHAL6B lactate dehydrogenase A-like 6B O L-lactate dehydrogenase A-like 6B|lactate dehydrogenase A-like 6 20141207 9606 92579 G6PC3 - SCN4|UGRP MIM:611045|HGNC:HGNC:24861|Ensembl:ENSG00000141349|HPRD:13556|Vega:OTTHUMG00000181805 17 17q21.31 glucose 6 phosphatase, catalytic, 3 protein-coding G6PC3 glucose 6 phosphatase, catalytic, 3 O G-6-Pase 3|G6Pase 3|G6Pase-beta|glucose-6-phosphatase 3|glucose-6-phosphatase catalytic subunit 3|ubiquitous glucose-6-phosphatase catalytic subunit-related protein|ubiquitously expressed G6Pase catalytic subunit-related protein 20141207 9606 92609 TIMM50 PRO1512 TIM50|TIM50L MIM:607381|HGNC:HGNC:23656|Ensembl:ENSG00000105197|HPRD:12118 19 19q13.2 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) protein-coding TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) O Tim50-like protein|homolog of yeast Tim50|mitochondrial import inner membrane translocase subunit TIM50 20141207 9606 92935 MARS2 - MetRS|mtMetRS MIM:609728|HGNC:HGNC:25133|Ensembl:ENSG00000247626|HPRD:14363|Vega:OTTHUMG00000154487 2 2q33.1 methionyl-tRNA synthetase 2, mitochondrial protein-coding MARS2 methionyl-tRNA synthetase 2, mitochondrial O methionine tRNA ligase 2, mitochondrial|methionine--tRNA ligase 2|methionine--tRNA ligase, mitochondrial|methionine-tRNA synthetase 2, mitochondrial 20141207 9606 93010 B3GNT7 - beta3GnT7 MIM:615313|HGNC:HGNC:18811|Ensembl:ENSG00000156966|HPRD:12512|Vega:OTTHUMG00000153880 2 2q37.1|2q37.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 protein-coding B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 O BGnT-7|beta 1,3-N-acetylglucosaminyltransferase 7|beta-1,3-Gn-T7|beta-1,3-N-acetylglucosaminyltransferase 7|beta3Gn-T7 20141207 9606 93034 NT5C1B FKSG85 AIRP|CN-IB|CN1B MIM:610526|HGNC:HGNC:17818|Ensembl:ENSG00000185013|HPRD:11405|Vega:OTTHUMG00000151765 2 2p24.2 5'-nucleotidase, cytosolic IB protein-coding NT5C1B 5'-nucleotidase, cytosolic IB O autoimmune infertility-related protein|cytosolic 5'-nucleotidase 1B 20141207 9606 93183 PIGM - GPI-MT-I MIM:610273|HGNC:HGNC:18858|Ensembl:ENSG00000143315|HPRD:15133|Vega:OTTHUMG00000024081 1 1q23.2 phosphatidylinositol glycan anchor biosynthesis, class M protein-coding PIGM phosphatidylinositol glycan anchor biosynthesis, class M O DPM:GlcN-(acyl-)PI mannosyltransferase|GPI mannosyltransferase 1|GPI mannosyltransferase I|PIG-M mannosyltransferase|dol-P-Man dependent GPI mannosyltransferase|phosphatidylinositol-glycan biosynthesis class M protein 20141207 9606 93492 TPTE2 RP11-408K19.2 TPIP MIM:606791|HGNC:HGNC:17299|Ensembl:ENSG00000132958|HPRD:06003|Vega:OTTHUMG00000016493 13 13q12.11 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 protein-coding TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 O PTEN-like inositol lipid phosphatase|TPIP lipid phosphatase|TPTE and PTEN homologous inositol lipid phosphatase|lipid phosphatase TPIP|phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase TPTE2 20141207 9606 93650 ACPT - - MIM:606362|HGNC:HGNC:14376|Ensembl:ENSG00000142513|HPRD:06964|Vega:OTTHUMG00000182961 19 19q13.4 acid phosphatase, testicular protein-coding ACPT acid phosphatase, testicular O testicular acid phosphatase 20141207 9606 93659 CGB5 - HCG MIM:608825|HGNC:HGNC:16452|Ensembl:ENSG00000189052|HPRD:12309|Vega:OTTHUMG00000183337 19 19q13.32 chorionic gonadotropin, beta polypeptide 5 protein-coding CGB5 chorionic gonadotropin, beta polypeptide 5 O chorionic gonadotropin beta 5 subunit 20141207 9606 94005 PIGS UNQ1873/PRO4316 - MIM:610271|HGNC:HGNC:14937|Ensembl:ENSG00000087111|HPRD:15135|Vega:OTTHUMG00000132604 17 17p13.2 phosphatidylinositol glycan anchor biosynthesis, class S protein-coding PIGS phosphatidylinositol glycan anchor biosynthesis, class S O GPI transamidase component PIG-S|GPI transamidase subunit|phosphatidylinositol glycan, class S|phosphatidylinositol-glycan biosynthesis class S protein 20141207 9606 94025 MUC16 - CA125 MIM:606154|HGNC:HGNC:15582|Ensembl:ENSG00000181143|Vega:OTTHUMG00000169191 19 19p13.2 mucin 16, cell surface associated protein-coding MUC16 mucin 16, cell surface associated O CA-125|CA125 ovarian cancer antigen|MUC-16|mucin-16|ovarian cancer-related tumor marker CA125|ovarian carcinoma antigen CA125 20141222 9606 94033 FTMT - MTF MIM:608847|HGNC:HGNC:17345|Ensembl:ENSG00000181867|HPRD:12316|Vega:OTTHUMG00000128912 5 5q21.3 ferritin mitochondrial protein-coding FTMT ferritin mitochondrial O ferritin H subunit|ferritin, mitochondrial|mitochondrial ferritin 20141207 9606 94115 CGB8 - - MIM:608827|HGNC:HGNC:16453|Ensembl:ENSG00000213030|HPRD:12311|Vega:OTTHUMG00000180609 19 19q13.32 chorionic gonadotropin, beta polypeptide 8 protein-coding CGB8 chorionic gonadotropin, beta polypeptide 8 O chorionic gonadotropin beta 8 subunit 20141207 9606 94235 GNG8 - - HGNC:HGNC:19664|Ensembl:ENSG00000167414|HPRD:13593|Vega:OTTHUMG00000183430 19 19q13.32 guanine nucleotide binding protein (G protein), gamma 8 protein-coding GNG8 guanine nucleotide binding protein (G protein), gamma 8 O gamma-9|guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8 20141207 9606 96764 TGS1 - NCOA6IP|PIMT|PIPMT MIM:606461|HGNC:HGNC:17843|Ensembl:ENSG00000137574|HPRD:07567|Vega:OTTHUMG00000164294 8 8q11 trimethylguanosine synthase 1 protein-coding TGS1 trimethylguanosine synthase 1 O CLL-associated antigen KW-2|PRIP-interacting protein PIPMT|PRIP-interacting protein with methyltransferase domain|PRIP-interacting protein with methyltransferase motif|SEREX-defined|cap-specific guanine-N2 methyltransferase|hepatocellular carcinoma-associated antigen 137|nuclear receptor coactivator 6 interacting protein|nuclear receptor coactivator 6-interacting protein|trimethylguanosine synthase|trimethylguanosine synthase homolog 20141207 9606 112483 SAT2 - SSAT2 MIM:611463|HGNC:HGNC:23160|Ensembl:ENSG00000141504|HPRD:15296|Vega:OTTHUMG00000108152 17 17p13.1 spermidine/spermine N1-acetyltransferase family member 2 protein-coding SAT2 spermidine/spermine N1-acetyltransferase family member 2 O diamine N-acetyltransferase 2|diamine acetyltransferase 2|polyamine N-acetyltransferase 2|spermidine/spermine N(1)-acetyltransferase 2|spermidine/spermine N1-acetyltransferase 2|thialysine N-epsilon-acetyltransferase 20141207 9606 112950 MED8 RP1-92O14.5 ARC32 MIM:607956|HGNC:HGNC:19971|Ensembl:ENSG00000159479|HPRD:06991|Vega:OTTHUMG00000007421 1 1p34.2 mediator complex subunit 8 protein-coding MED8 mediator complex subunit 8 O activator-recruited cofactor 32 kDa component|mediator of RNA polymerase II transcription subunit 8|mediator of RNA polymerase II transcription subunit MED8 20141207 9606 113026 PLCD3 - PLC-delta-3 MIM:608795|HGNC:HGNC:9061|HPRD:07146 17 17q21.31 phospholipase C, delta 3 protein-coding PLCD3 phospholipase C, delta 3 O 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3|1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-3|PLC delta3|phosphoinositide phospholipase C-delta-3 20141207 9606 113189 CHST14 UNQ1925/PRO4400 ATCS|D4ST1|EDSMC1|HNK1ST MIM:608429|HGNC:HGNC:24464|HPRD:16780 15 15q15.1 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 protein-coding CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 O carbohydrate sulfotransferase 14|dermatan 4 sulfotransferase 1 20141207 9606 113235 SLC46A1 - G21|HCP1|PCFT MIM:611672|HGNC:HGNC:30521|Ensembl:ENSG00000076351|HPRD:14715|Vega:OTTHUMG00000179415 17 17q11.2 solute carrier family 46 (folate transporter), member 1 protein-coding SLC46A1 solute carrier family 46 (folate transporter), member 1 O heme carrier protein 1|proton-coupled folate transporter 20141219 9606 113457 TUBA3D - H2-ALPHA HGNC:HGNC:24071|Ensembl:ENSG00000075886|HPRD:17085|Vega:OTTHUMG00000153600 2 2q21.1 tubulin, alpha 3d protein-coding TUBA3D tubulin, alpha 3d O alpha-tubulin isotype H2-alpha|tubulin alpha-2 chain|tubulin alpha-3C/D chain 20141207 9606 114049 WBSCR22 HUSSY-03 HASJ4442|HUSSY-3|MERM1|PP3381|WBMT MIM:615733|HGNC:HGNC:16405|Ensembl:ENSG00000071462|HPRD:15659|Vega:OTTHUMG00000023306 7 7q11.23 Williams Beuren syndrome chromosome region 22 protein-coding WBSCR22 Williams Beuren syndrome chromosome region 22 O Williams-Beuren candidate region putative methyltransferase|Williams-Beuren syndrome chromosomal region 22 protein|bud site selection protein 23 homolog|metastasis-related methyltransferase 1|probable 18S rRNA (guanine-N(7))-methyltransferase|ribosome biogenesis methyltransferase WBSCR22 20141207 9606 114805 GALNT13 - GalNAc-T13 MIM:608369|HGNC:HGNC:23242|Ensembl:ENSG00000144278|HPRD:16325|Vega:OTTHUMG00000131917 2 2q24.1 polypeptide N-acetylgalactosaminyltransferase 13 protein-coding GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 O GalNAc transferase 13|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 13|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)|polypeptide GalNAc transferase 13|pp-GaNTase 13|protein-UDP acetylgalactosaminyltransferase 13 20141207 9606 116285 ACSM1 - BUCS1|MACS1 MIM:614357|HGNC:HGNC:18049|Ensembl:ENSG00000166743|HPRD:12551|Vega:OTTHUMG00000131550 16 16p12.3 acyl-CoA synthetase medium-chain family member 1 protein-coding ACSM1 acyl-CoA synthetase medium-chain family member 1 O Butyrate CoA ligase|acyl-coenzyme A synthetase ACSM1, mitochondrial|butyrate--CoA ligase 1|butyryl Coenzyme A synthetase 1|butyryl-coenzyme A synthetase 1|lipoate-activating enzyme|medium-chain acyl-CoA synthetase|middle-chain acyl-CoA synthetase 1 20141207 9606 116519 APOA5 UNQ411/PRO773 APOAV|RAP3 MIM:606368|HGNC:HGNC:17288|Ensembl:ENSG00000110243|HPRD:06966|Vega:OTTHUMG00000046116 11 11q23 apolipoprotein A-V protein-coding APOA5 apolipoprotein A-V O apo-AV|apolipoprotein A5|regeneration-associated protein 3 20141222 9606 117248 GALNT15 UNQ770/PRO1564 GALNACT15|GALNT13|GALNT7|GALNTL2|PIH5 MIM:615131|HGNC:HGNC:21531|Ensembl:ENSG00000131386|HPRD:13563|Vega:OTTHUMG00000156893 3 3p25.1 polypeptide N-acetylgalactosaminyltransferase 15 protein-coding GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 O UDP-GalNAc transferase T15|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 2|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2|galNAc-T-like protein 2|polypeptide GalNAc transferase 15|polypeptide GalNAc transferase-like protein 2|polypeptide N-acetylgalactosaminyltransferase 13|polypeptide N-acetylgalactosaminyltransferase-like protein 2|pp-GaNTase-like protein 2|pp-GalNAc-T15|pregnancy-induced hypertension syndrome-related protein 5|protein-UDP acetylgalactosaminyltransferase-like protein 2 20141207 9606 118430 MUCL1 UNQ590/PRO1160 SBEM MIM:610857|HGNC:HGNC:30588|Ensembl:ENSG00000172551|HPRD:17290|Vega:OTTHUMG00000169815 12 12q mucin-like 1 protein-coding MUCL1 mucin-like 1 O mucin-like protein 1|small breast epithelial mucin 20141207 9606 118460 EXOSC6 - EAP4|MTR3|Mtr3p|hMtr3p|p11 MIM:606490|HGNC:HGNC:19055|HPRD:12107 16 16q22.1 exosome component 6 protein-coding EXOSC6 exosome component 6 O Mtr3 (mRNA transport regulator 3)-homolog|exosome complex component MTR3|exosome complex exonuclease MTR3|hMtr3|homolog of yeast mRNA transport regulator 3|mRNA transport regulator 3 homolog 20141207 9606 119391 GSTO2 RP11-127L20.2 GSTO 2-2|bA127L20.1 MIM:612314|HGNC:HGNC:23064|Ensembl:ENSG00000065621|HPRD:13614 10 10q25.1 glutathione S-transferase omega 2 protein-coding GSTO2 glutathione S-transferase omega 2 O GSTO-2|MMA(V) reductase|bA127L20.1 (novel glutathione-S-transferase)|glutathione S-transferase omega 2-2|glutathione S-transferase omega-2|glutathione-S-transferase-like protein|glutathione-dependent dehydroascorbate reductase|monomethylarsonic acid reductase 20141207 9606 121278 TPH2 - ADHD7|NTPH MIM:607478|HGNC:HGNC:20692|Ensembl:ENSG00000139287|HPRD:09594|Vega:OTTHUMG00000169677 12 12q21.1 tryptophan hydroxylase 2 protein-coding TPH2 tryptophan hydroxylase 2 O neuronal tryptophan hydroxylase|tryptophan 5-hydroxylase 2|tryptophan 5-monooxygenase 2 20141207 9606 122481 AK7 - AK 7 MIM:615364|HGNC:HGNC:20091|Ensembl:ENSG00000140057|HPRD:10640|Vega:OTTHUMG00000171421 14 14q32.2 adenylate kinase 7 protein-coding AK7 adenylate kinase 7 O ATP-AMP transphosphorylase 7|putative adenylate kinase 7 20141207 9606 122618 PLD4 UNQ2488/PRO5775 C14orf175 HGNC:HGNC:23792|Ensembl:ENSG00000166428|HPRD:11230|Vega:OTTHUMG00000144167 14 14q32.33 phospholipase D family, member 4 protein-coding PLD4 phospholipase D family, member 4 O PLD 4|choline phosphatase 4|phosphatidylcholine-hydrolyzing phospholipase D4|phospholipase D4 20141207 9606 122622 ADSSL1 - - MIM:612498|HGNC:HGNC:20093|Ensembl:ENSG00000185100|HPRD:12433|Vega:OTTHUMG00000170818 14 14q32.33 adenylosuccinate synthase like 1 protein-coding ADSSL1 adenylosuccinate synthase like 1 O AMPSase 1|IMP--aspartate ligase 1|M-type adenylosuccinate synthetase|adSS 1|adenylosuccinate synthetase isozyme 1|adenylosuccinate synthetase, basic isozyme|adenylosuccinate synthetase, muscle isozyme 20141207 9606 123099 DEGS2 - C14orf66|DES2|FADS8 MIM:610862|HGNC:HGNC:20113|HPRD:13134 14 14q32.2 delta(4)-desaturase, sphingolipid 2 protein-coding DEGS2 delta(4)-desaturase, sphingolipid 2 O degenerative spermatocyte homolog 2, lipid desaturase|dihydroceramide desaturase 2|sphingolipid C4-hydroxylase/delta 4-desaturase|sphingolipid delta 4 desaturase/C-4 hydroxylase|sphingolipid delta(4)-desaturase 2|sphingolipid delta(4)-desaturase/C4-hydroxylase DES2 20141207 9606 123745 PLA2G4E - - HGNC:HGNC:24791|Ensembl:ENSG00000188089|HPRD:13510|Vega:OTTHUMG00000130371 15 15q15.1 phospholipase A2, group IVE protein-coding PLA2G4E phospholipase A2, group IVE O cPLA2-epsilon|cytosolic phospholipase A2 epsilon 20141207 9606 123876 ACSM2A - A-923A4.1|ACSM2 MIM:614358|HGNC:HGNC:32017|Ensembl:ENSG00000183747|HPRD:17292|Vega:OTTHUMG00000177401 16 16p12.3 acyl-CoA synthetase medium-chain family member 2A protein-coding ACSM2A acyl-CoA synthetase medium-chain family member 2A O Homolog of rat kidney-specific (KS)|acyl-CoA synthetase medium-chain family member 2|acyl-coenzyme A synthetase ACSM2A, mitochondrial|butyrate--CoA ligase 2A|butyryl-coenzyme A synthetase 2A|middle-chain acyl-CoA synthetase 2A 20141211 9606 124454 EARS2 - COXPD12|MSE1 MIM:612799|HGNC:HGNC:29419|Ensembl:ENSG00000103356|Vega:OTTHUMG00000177018 16 16p12.2 glutamyl-tRNA synthetase 2, mitochondrial protein-coding EARS2 glutamyl-tRNA synthetase 2, mitochondrial O gluRS|glutamate tRNA ligase 2, mitochondrial|glutamate--tRNA ligase|glutamyl-tRNA synthetase 2, mitochondrial (putative)|probable glutamate--tRNA ligase, mitochondrial|probable glutamyl-tRNA synthetase, mitochondrial 20141207 9606 124583 CANT1 - DBQD|SCAN-1|SCAN1|SHAPY MIM:613165|HGNC:HGNC:19721|Ensembl:ENSG00000171302|HPRD:13003|Vega:OTTHUMG00000177570 17 17q25.3 calcium activated nucleotidase 1 protein-coding CANT1 calcium activated nucleotidase 1 O Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase|apyrase homolog|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|putative MAPK-activating protein PM09|putative NF-kappa-B-activating protein 107|soluble Ca-activated nucleotidase, isozyme 1|soluble calcium-activated nucleotidase 1|soluble calcium-activated nucleotidase SCAN-1 20141207 9606 124975 GGT6 - - MIM:612341|HGNC:HGNC:26891|Ensembl:ENSG00000167741|HPRD:08293|Vega:OTTHUMG00000177827 17 17p13.2 gamma-glutamyltransferase 6 protein-coding GGT6 gamma-glutamyltransferase 6 O gamma-glutamyltransferase 6 homolog|gamma-glutamyltranspeptidase 6|glutathione hydrolase 6 20141207 9606 125061 AFMID - FKF|KF|KFA HGNC:HGNC:20910|Ensembl:ENSG00000183077|HPRD:16478|Vega:OTTHUMG00000153957 17 17q25.3 arylformamidase protein-coding AFMID arylformamidase O FKF|KFA|KFase|N-formylkynurenine formamidase|kynurenine formamidase|probable arylformamidase 20141207 9606 125981 ACER1 - ALKCDase1|ASAH3 MIM:613491|HGNC:HGNC:18356|HPRD:12496 19 19p13.3 alkaline ceramidase 1 protein-coding ACER1 alkaline ceramidase 1 O N-acylsphingosine amidohydrolase (alkaline ceramidase) 3|N-acylsphingosine amidohydrolase 3|acylsphingosine deacylase 3|alkCDase 1|alkaline CDase 1 20141207 9606 126129 CPT1C - CATL1|CPT1-B|CPT1P|CPTI-B|CPTIC MIM:608846|HGNC:HGNC:18540|Ensembl:ENSG00000169169|HPRD:12315|Vega:OTTHUMG00000183267 19 19q13.33 carnitine palmitoyltransferase 1C protein-coding CPT1C carnitine palmitoyltransferase 1C O carnitine O-palmitoyltransferase 1, brain isoform|carnitine O-palmitoyltransferase I, brain isoform|carnitine palmitoyltransferase I related C 20141207 9606 126792 B3GALT6 - EDSP2|SEMDJL1|beta3GalT6 MIM:615291|HGNC:HGNC:17978|Ensembl:ENSG00000176022|HPRD:12509|Vega:OTTHUMG00000001813 1 1p36.33 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 protein-coding B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 O GAG GalTII|UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6|beta-1,3-GalTase 6|beta-1,3-galactosyltransferase 6|beta3Gal-T6|galactosyltransferase II|galactosylxylosylprotein 3-beta-galactosyltransferase 20141207 9606 126969 SLC44A3 UNQ558/PRO1115 CTL3 HGNC:HGNC:28689|Ensembl:ENSG00000143036|HPRD:14637|Vega:OTTHUMG00000010700 1 1p21.3 solute carrier family 44, member 3 protein-coding SLC44A3 solute carrier family 44, member 3 O choline transporter-like protein 3 20141207 9606 128869 PIGU RP11-346K17.2 CDC91L1|GAB1 MIM:608528|HGNC:HGNC:15791|Ensembl:ENSG00000101464|HPRD:12250|Vega:OTTHUMG00000032304 20 20q11.22 phosphatidylinositol glycan anchor biosynthesis, class U protein-coding PIGU phosphatidylinositol glycan anchor biosynthesis, class U O CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1|GPI transamidase component PIG-U|GPI transamidase subunit|cell division cycle 91-like 1 protein|cell division cycle protein 91-like 1|phosphatidylinositol glycan anchor biosynthesis class U protein|protein CDC91-like 1 20141207 9606 129401 NUP35 - MP-44|MP44|NP44|NUP53 MIM:608140|HGNC:HGNC:29797|Ensembl:ENSG00000163002|HPRD:10486|Vega:OTTHUMG00000132621 2 2q32.1 nucleoporin 35kDa protein-coding NUP35 nucleoporin 35kDa O mitotic phosphoprotein 44|nuclear pore complex protein Nup53|nucleoporin NUP53 20141207 9606 129607 CMPK2 - TMPK2|TYKi|UMP-CMPK2 MIM:611787|HGNC:HGNC:27015|Ensembl:ENSG00000134326|HPRD:11233|Vega:OTTHUMG00000151629 2 2p25.2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial protein-coding CMPK2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial O UMP-CMP kinase 2, mitochondrial|cytidylate kinase 2|mitochondrial UMP-CMP kinase|nucleoside-diphosphate kinase|thymidine monophosphate kinase 2|thymidylate kinase family LPS-inducible member 20141207 9606 129642 MBOAT2 - LPCAT4|OACT2 MIM:611949|HGNC:HGNC:25193|HPRD:11410 2 2p25.1 membrane bound O-acyltransferase domain containing 2 protein-coding MBOAT2 membrane bound O-acyltransferase domain containing 2 O 1-acylglycerophosphate O-acyltransferase|1-acylglycerophosphoethanolamine O-acyltransferase|LPAAT|LPEAT|LPLAT 2|O-acyltransferase (membrane bound) domain containing 2|O-acyltransferase domain-containing protein 2|lyso-PA acyltransferase|lyso-PE acyltransferase|lysophosphatidic acid acyltransferase|lysophosphatidylethanolamine acyltransferase|lysophospholipid acyltransferase 2|membrane-bound O-acyltransferase domain-containing protein 2 20141207 9606 129807 NEU4 LP5125 - MIM:608527|HGNC:HGNC:21328|Ensembl:ENSG00000204099|HPRD:12249|Vega:OTTHUMG00000133412 2 2q37.3 sialidase 4 protein-coding NEU4 sialidase 4 O N-acetyl-alpha-neuraminidase 4|neuraminidase 4|sialidase-4 20141222 9606 130013 ACMSD - - MIM:608889|HGNC:HGNC:19288|Ensembl:ENSG00000153086|HPRD:12326|Vega:OTTHUMG00000131711 2 2q21.3 aminocarboxymuconate semialdehyde decarboxylase protein-coding ACMSD aminocarboxymuconate semialdehyde decarboxylase O 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase|picolinate carboxylase 20141211 9606 130367 SGPP2 - SPP2 MIM:612827|HGNC:HGNC:19953|HPRD:18048 2 2q36.1 sphingosine-1-phosphate phosphatase 2 protein-coding SGPP2 sphingosine-1-phosphate phosphatase 2 O SPPase2|hSPP2|sphingosine 1-phosphate phosphohydrolase 2|sphingosine-1-phosphatase 2|sphingosine-1-phosphate phosphotase 2 20141207 9606 130589 GALM BLOCK25 GLAT|HEL-S-63p|IBD1 MIM:137030|HGNC:HGNC:24063|Ensembl:ENSG00000143891|HPRD:13559|Vega:OTTHUMG00000102077 2 2p22.1 galactose mutarotase (aldose 1-epimerase) protein-coding GALM galactose mutarotase (aldose 1-epimerase) O aldose 1-epimerase|epididymis secretory sperm binding protein Li 63p|galactomutarotase|galactose enzyme activator 20141207 9606 131118 DNAJC19 - PAM18|TIM14|TIMM14 MIM:608977|HGNC:HGNC:30528|Ensembl:ENSG00000205981|HPRD:12349|Vega:OTTHUMG00000158180 3 3q26.33 DnaJ (Hsp40) homolog, subfamily C, member 19 protein-coding DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 O homolog of yeast TIM14|mitochondrial import inner membrane translocase subunit TIM14 20141207 9606 131474 CHCHD4 - MIA40|TIMM40 MIM:611077|HGNC:HGNC:26467|Ensembl:ENSG00000163528|HPRD:13045|Vega:OTTHUMG00000129805 3 3p25.1 coiled-coil-helix-coiled-coil-helix domain containing 4 protein-coding CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 O coiled-coil-helix-coiled-coil-helix domain-containing protein 4|mitochondrial intermembrane space import and assembly 40 homolog|mitochondrial intermembrane space import and assembly protein 40|translocase of inner mitochondrial membrane 40 homolog 20141207 9606 131669 UROC1 - HMFN0320 MIM:613012|HGNC:HGNC:26444|Ensembl:ENSG00000159650|HPRD:08712|Vega:OTTHUMG00000162753 3 3q21.3 urocanate hydratase 1 protein-coding UROC1 urocanate hydratase 1 O imidazolonepropionate hydrolase|urocanase 1|urocanase domain containing 1|urocanate hydratase 20141207 9606 131965 METTL6 - - HGNC:HGNC:28343|Ensembl:ENSG00000206562|HPRD:14494|Vega:OTTHUMG00000156431 3 3p25.1 methyltransferase like 6 protein-coding METTL6 methyltransferase like 6 O methyltransferase-like protein 6 20141207 9606 132158 GLYCTK LP5910 HBEBP2|HBEBP4|HBeAgBP4A MIM:610516|HGNC:HGNC:24247|Ensembl:ENSG00000168237|HPRD:13586|Vega:OTTHUMG00000158380 3 3p21.1 glycerate kinase protein-coding GLYCTK glycerate kinase O HBeAg binding protein 4|HBeAg-binding protein 2 20141207 9606 132789 GNPDA2 - GNP2|SB52 MIM:613222|HGNC:HGNC:21526|Ensembl:ENSG00000163281|HPRD:13594|Vega:OTTHUMG00000099415 4 4p12 glucosamine-6-phosphate deaminase 2 protein-coding GNPDA2 glucosamine-6-phosphate deaminase 2 O glcN6P deaminase 2|glucosamine-6-phosphate isomerase 2|glucosamine-6-phosphate isomerase SB52 20141207 9606 133121 ENPP6 UNQ1889/PRO4334 NPP6 HGNC:HGNC:23409|Ensembl:ENSG00000164303|HPRD:16863|Vega:OTTHUMG00000160617 4 4q35.1 ectonucleotide pyrophosphatase/phosphodiesterase 6 protein-coding ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 O B830047L21Rik|E-NPP 6|GPC-Cpde|NPP-6|choline-specific glycerophosphodiester phosphodiesterase|ectonucleotide pyrophosphatase/phosphodiesterase family member 6|glycerophosphocholine cholinephosphodiesterase 20141207 9606 133522 PPARGC1B - ERRL1|PERC|PGC-1(beta)|PGC1B MIM:608886|HGNC:HGNC:30022|Ensembl:ENSG00000155846|HPRD:10594|Vega:OTTHUMG00000130055 5 5q32 peroxisome proliferator-activated receptor gamma, coactivator 1 beta protein-coding PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta O PGC-1-related estrogen receptor alpha coactivator|PPAR-gamma coactivator 1-beta|PPARGC-1-beta|peroxisome proliferator-activated receptor gamma coactivator 1-beta 20141207 9606 134266 GRPEL2 - Mt-GrpE#2 HGNC:HGNC:21060|Ensembl:ENSG00000164284|HPRD:17079|Vega:OTTHUMG00000130048 5 5q32 GrpE-like 2, mitochondrial (E. coli) protein-coding GRPEL2 GrpE-like 2, mitochondrial (E. coli) O grpE protein homolog 2, mitochondrial 20141207 9606 134429 STARD4 - - MIM:607049|HGNC:HGNC:18058|Ensembl:ENSG00000164211|HPRD:06133|Vega:OTTHUMG00000128793 5 5q22.1 StAR-related lipid transfer (START) domain containing 4 protein-coding STARD4 StAR-related lipid transfer (START) domain containing 4 O START domain containing 4 sterol-regulated|START domain containing 4, sterol regulated|START domain-containing protein 4|stAR-related lipid transfer protein 4 20141207 9606 134526 ACOT12 - CACH-1|Cach|STARD15|THEAL MIM:614315|HGNC:HGNC:24436|Ensembl:ENSG00000172497|HPRD:16680|Vega:OTTHUMG00000131305 5 5q14.1 acyl-CoA thioesterase 12 protein-coding ACOT12 acyl-CoA thioesterase 12 O START domain-containing protein 15|StAR-related lipid transfer (START) domain containing 15|acyl-CoA thioester hydrolase 12|acyl-coenzyme A thioesterase 12|cytoplasmic acetyl-CoA hydrolase 1|cytosolic acetyl-CoA hydrolase|hCACH-1 20141207 9606 135152 B3GAT2 RP1-104A17.2 GLCATS MIM:607497|HGNC:HGNC:922|HPRD:06325 6 6q13 beta-1,3-glucuronyltransferase 2 protein-coding B3GAT2 beta-1,3-glucuronyltransferase 2 O UDP-glucuronosyltransferase S|UDP-glucuronyltransferase S|galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2|glcAT-D|glucuronosyltransferase S|uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase 20141207 9606 137872 ADHFE1 HMFT2263 ADH8|HOT MIM:611083|HGNC:HGNC:16354|Ensembl:ENSG00000147576|HPRD:12428|Vega:OTTHUMG00000150215 8 8q13.1 alcohol dehydrogenase, iron containing, 1 protein-coding ADHFE1 alcohol dehydrogenase, iron containing, 1 O Fe-containing alcohol dehydrogenase 1|alcohol dehydrogenase 8|alcohol dehydrogenase iron-containing protein 1|hydroxyacid-oxoacid transhydrogenase, mitochondrial 20141222 9606 137964 AGPAT6 UNQ551/PRO1108 1-AGPAT 6|LPAAT-zeta|LPAATZ|TSARG7 MIM:608143|HGNC:HGNC:20880|Ensembl:ENSG00000158669|HPRD:12175|Vega:OTTHUMG00000164082 8 8p11.21 1-acylglycerol-3-phosphate O-acyltransferase 6 protein-coding AGPAT6 1-acylglycerol-3-phosphate O-acyltransferase 6 O 1-AGP acyltransferase 6|1-acyl-sn-glycerol-3-phosphate acyltransferase zeta|1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)|glycerol-3-phosphate acyltransferase 6|lysophosphatidic acid acyltransferase zeta|testis spermatogenesis apoptosis-related protein 7 20141207 9606 139596 UPRT RP11-311P8.3 FUR1|UPP MIM:300656|HGNC:HGNC:28334|Ensembl:ENSG00000094841|HPRD:06640|Vega:OTTHUMG00000021864 X Xq13.3 uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) protein-coding UPRT uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) O RP11-311P8.3|UMP pyrophosphorylase|UPRTase|uracil phosphoribosyltransferase homolog 20141207 9606 139760 GPR119 RP1-20I3.4 GPCR2 MIM:300513|HGNC:HGNC:19060|Ensembl:ENSG00000147262|HPRD:06579|Vega:OTTHUMG00000022397 X Xq26.1 G protein-coupled receptor 119 protein-coding GPR119 G protein-coupled receptor 119 O G-protein coupled receptor 2|glucose-dependent insulinotropic receptor 20141222 9606 140453 MUC17 - MUC3 MIM:608424|HGNC:HGNC:16800|Ensembl:ENSG00000169876|HPRD:16335|Vega:OTTHUMG00000157030 7 7q22.1 mucin 17, cell surface associated protein-coding MUC17 mucin 17, cell surface associated O MUC-17|MUC-3|membrane mucin MUC17|mucin-17|secreted mucin MUC17|small intestinal mucin MUC3|small intestinal mucin-3 20141207 9606 140838 NANP - C20orf147|HDHD4|dJ694B14.3 MIM:610763|HGNC:HGNC:16140|Ensembl:ENSG00000170191|HPRD:17097|Vega:OTTHUMG00000032132 20 20p11.1 N-acetylneuraminic acid phosphatase protein-coding NANP N-acetylneuraminic acid phosphatase O N-acylneuraminate-9-phosphatase|Neu5Ac-9-Pase|haloacid dehalogenase-like hydrolase domain containing 4|haloacid dehalogenase-like hydrolase domain-containing protein 4 20141207 9606 143471 PSMA8 - PSMA7L HGNC:HGNC:22985|Ensembl:ENSG00000154611|HPRD:11322|Vega:OTTHUMG00000179426 18 18q11.2 proteasome (prosome, macropain) subunit, alpha type, 8 protein-coding PSMA8 proteasome (prosome, macropain) subunit, alpha type, 8 O proteasome subunit alpha type-7-like 20141207 9606 143662 MUC15 UNQ750/PRO1481 MUC-15|PAS3|PASIII MIM:608566|HGNC:HGNC:14956|Ensembl:ENSG00000169550|HPRD:16349|Vega:OTTHUMG00000166112 11 11p14.3 mucin 15, cell surface associated protein-coding MUC15 mucin 15, cell surface associated O mucin-15 20141207 9606 144193 AMDHD1 HMFT1272 - HGNC:HGNC:28577|Ensembl:ENSG00000139344|HPRD:14605|Vega:OTTHUMG00000170353 12 12q23.1 amidohydrolase domain containing 1 protein-coding AMDHD1 amidohydrolase domain containing 1 O amidohydrolase domain-containing protein 1|probable imidazolonepropionase 20141207 9606 144245 ALG10B - ALG10|KCR1 HGNC:HGNC:31088|Ensembl:ENSG00000175548|HPRD:11923|Vega:OTTHUMG00000169298 12 12q12 ALG10B, alpha-1,2-glucosyltransferase protein-coding ALG10B ALG10B, alpha-1,2-glucosyltransferase O alpha-1,2-glucosyltransferase ALG10-A|alpha-2-glucosyltransferase ALG10-B|asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase)|asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B|asparagine-linked glycosylation protein 10 homolog B|dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase|modifier of the HERG potassium channel|potassium channel regulator 1|putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase|putative alpha-1,2-glucosyltransferase ALG10-B 20141207 9606 145226 RDH12 - LCA13|LCA3|RP53|SDR7C2 MIM:608830|HGNC:HGNC:19977|Ensembl:ENSG00000139988|HPRD:10585|Vega:OTTHUMG00000170032 14 14q24.1 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) protein-coding RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) O all-trans and 9-cis retinol dehydrogenase|retinol dehydrogenase 12|retinol dehydrogenase 12, all-trans and 9-cis|short chain dehydrogenase/reductase family 7C, member 2 20141219 9606 146712 B3GNTL1 - B3GNT8 MIM:615337|HGNC:HGNC:21727|Ensembl:ENSG00000175711|HPRD:14071|HPRD:18527|Vega:OTTHUMG00000177788 17 17q25.3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 protein-coding B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 O BGnT-8|BGnT-like protein 1|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1|beta-1,3-Gn-T8|beta-1,3-N-acetylglucosaminyltransferase 8|beta1,3-N-acetylglucosaminyltransferase-like protein 1|beta3Gn-T-like protein 1|beta3Gn-T8|beta3GnTL1 20141207 9606 146850 PIK3R6 - C17orf38|HsT41028|p84 PIKAP|p87(PIKAP)|p87PIKAP MIM:611462|HGNC:HGNC:27101|Ensembl:ENSG00000276231|HPRD:12682 17 17p13.1 phosphoinositide-3-kinase, regulatory subunit 6 protein-coding PIK3R6 phosphoinositide-3-kinase, regulatory subunit 6 O PI3Kgamma adapter protein of 87 kDa|p84 PI3K adapter protein|p87 phosphoinositide 3-kinase gamma (PI3Kg) adapter protein|phosphoinositide 3-kinase regulatory subunit 6 20141207 9606 147323 STARD6 - - MIM:607051|HGNC:HGNC:18066|Ensembl:ENSG00000174448|HPRD:09518 18 18q21.2 StAR-related lipid transfer (START) domain containing 6 protein-coding STARD6 StAR-related lipid transfer (START) domain containing 6 O START domain containing 6|START domain-containing protein 6|stAR-related lipid transfer protein 6 20141207 9606 150274 HSCB RP3-366L4.2 DNAJC20|HSC20|JAC1|dJ366L4.2 MIM:608142|HGNC:HGNC:28913|Ensembl:ENSG00000100209|HPRD:16289|Vega:OTTHUMG00000151092 22 22q12.1 HscB mitochondrial iron-sulfur cluster co-chaperone protein-coding HSCB HscB mitochondrial iron-sulfur cluster co-chaperone O DnaJ (Hsp40) homolog, subfamily C, member 20|HscB iron-sulfur cluster co-chaperone homolog|J-type co-chaperone HSC20|dnaJ homolog subfamily C member 20|iron-sulfur cluster co-chaperone protein HscB, mitochondrial 20141207 9606 150763 GPAT2 - CT123 HGNC:HGNC:27168|Ensembl:ENSG00000186281|HPRD:14089|Vega:OTTHUMG00000155208 2 2q11.1 glycerol-3-phosphate acyltransferase 2, mitochondrial protein-coding GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial O GPAT-2|cancer/testis antigen 123|xGPAT1 20141207 9606 151531 UPP2 - UDRPASE2|UP2|UPASE2 HGNC:HGNC:23061|Ensembl:ENSG00000007001|HPRD:15627|Vega:OTTHUMG00000131969 2 2q24.1 uridine phosphorylase 2 protein-coding UPP2 uridine phosphorylase 2 O UPase 2|liver-specific uridine phosphorylase|urdPase 2|uridine phosphorylase-2 20141207 9606 151742 PPM1L - PP2C-epsilon|PP2CE|PPM1-LIKE MIM:611931|HGNC:HGNC:16381|HPRD:17889 3 3q26.1 protein phosphatase, Mg2+/Mn2+ dependent, 1L protein-coding PPM1L protein phosphatase, Mg2+/Mn2+ dependent, 1L O PP2C epsilon|Protein phosphatase 2C epsilon isoform|protein phosphatase 1L|protein phosphatase 2C isoform epsilon 20141207 9606 153642 ARSK UNQ630/PRO1246 TSULF MIM:610011|HGNC:HGNC:25239|Ensembl:ENSG00000164291|HPRD:13183|Vega:OTTHUMG00000121166 5 5q15 arylsulfatase family, member K protein-coding ARSK arylsulfatase family, member K O ASK|arylsulfatase K|telethon sulfatase 20141207 9606 154141 MBOAT1 RP1-130G2.2 1|LPEAT1|LPLAT|LPLAT 1|LPSAT|OACT1|dJ434O11.1 MIM:611732|HGNC:HGNC:21579 6 6p22.3 membrane bound O-acyltransferase domain containing 1 protein-coding MBOAT1 membrane bound O-acyltransferase domain containing 1 O 1-acylglycerophosphoserine O-acyltransferase|O-acyltransferase (membrane bound) domain containing 1|O-acyltransferase domain-containing protein 1|lyso-PS acyltransferase|lysophosphatidylethanolamine acyltransferase 1|lysophosphatidylserine acyltransferase|lysophospholipid acyltransferase 1|membrane-bound O-acyltransferase domain-containing protein 1 20141207 9606 157506 RDH10 UNQ9375/PRO34191 SDR16C4 MIM:607599|HGNC:HGNC:19975|Ensembl:ENSG00000121039|HPRD:07605|Vega:OTTHUMG00000164492 8 8q21.11 retinol dehydrogenase 10 (all-trans) protein-coding RDH10 retinol dehydrogenase 10 (all-trans) O retinol dehydrogenase 10|short chain dehydrogenase/reductase family 16C, member 4 20141207 9606 158835 AWAT2 - ARAT|DC4|DGAT2L4|MFAT|WS MIM:300925|HGNC:HGNC:23251|Ensembl:ENSG00000147160|HPRD:16799|Vega:OTTHUMG00000021763 X Xq13.1 acyl-CoA wax alcohol acyltransferase 2 protein-coding AWAT2 acyl-CoA wax alcohol acyltransferase 2 O acyl-CoA retinol O-fatty-acyltransferase|diacylglycerol O-acyltransferase 2-like protein 4|diacylglycerol O-acyltransferase candidate 4|long-chain-alcohol O-fatty-acyltransferase 2|multifunctional O-acyltransferase|retinol O-fatty-acyltransferase 20141207 9606 160287 LDHAL6A - LDH6A HGNC:HGNC:28335|Ensembl:ENSG00000166800|HPRD:13980|Vega:OTTHUMG00000167724 11 11p15.1 lactate dehydrogenase A-like 6A protein-coding LDHAL6A lactate dehydrogenase A-like 6A O L-lactate dehydrogenase A-like 6A 20141207 9606 160851 DGKH RP11-215B13.1 DGKeta MIM:604071|HGNC:HGNC:2854|Ensembl:ENSG00000102780|HPRD:07237|Vega:OTTHUMG00000016804 13 13q14.11 diacylglycerol kinase, eta protein-coding DGKH diacylglycerol kinase, eta O DAG kinase eta|diacylglycerol kinase eta|diglyceride kinase eta 20141207 9606 161823 ADAL - - HGNC:HGNC:31853|Ensembl:ENSG00000168803|HPRD:11779|Vega:OTTHUMG00000176646 15 15q15.3 adenosine deaminase-like protein-coding ADAL adenosine deaminase-like O adenosine deaminase-like protein 20141207 9606 162417 NAGS - AGAS|ARGA MIM:608300|HGNC:HGNC:17996|Ensembl:ENSG00000161653|HPRD:10510|Vega:OTTHUMG00000181802 17 17q21.31 N-acetylglutamate synthase protein-coding NAGS N-acetylglutamate synthase O N-acetylglutamate synthase, mitochondrial|amino-acid acetyltransferase 20141207 9606 162466 PHOSPHO1 - - HGNC:HGNC:16815|Ensembl:ENSG00000173868|HPRD:17847|Vega:OTTHUMG00000161305 17 17q21.32 phosphatase, orphan 1 protein-coding PHOSPHO1 phosphatase, orphan 1 O phosphoethanolamine/phosphocholine phosphatase 20141207 9606 166012 CHST13 - C4ST3 MIM:610124|HGNC:HGNC:21755|Ensembl:ENSG00000180767|HPRD:13057|Vega:OTTHUMG00000162721 3 3q21.3 carbohydrate (chondroitin 4) sulfotransferase 13 protein-coding CHST13 carbohydrate (chondroitin 4) sulfotransferase 13 O C4ST-3|carbohydrate sulfotransferase 13|chondroitin 4-O-sulfotransferase 3|chondroitin 4-sulfotransferase 3 20141207 9606 166929 SGMS2 - SMS2 MIM:611574|HGNC:HGNC:28395|Ensembl:ENSG00000164023|HPRD:11323|Vega:OTTHUMG00000131811 4 4q25 sphingomyelin synthase 2 protein-coding SGMS2 sphingomyelin synthase 2 O SM synthase|phosphatidylcholine:ceramide cholinephosphotransferase 2 20141207 9606 167227 DCP2 - NUDT20 MIM:609844|HGNC:HGNC:24452|Ensembl:ENSG00000172795|HPRD:13125|Vega:OTTHUMG00000162853 5 5q22.2 decapping mRNA 2 protein-coding DCP2 decapping mRNA 2 O DCP2 decapping enzyme homolog|hDpc|m7GpppN-mRNA hydrolase|mRNA-decapping enzyme 2|nudix (nucleoside diphosphate linked moiety X)-type motif 20 20141207 9606 168391 GALNTL5 - GALNACT19|GALNT15|GalNAc-T5L MIM:615133|HGNC:HGNC:21725|Ensembl:ENSG00000106648|HPRD:13565|Vega:OTTHUMG00000157306 7 7q36.1 polypeptide N-acetylgalactosaminyltransferase-like 5 protein-coding GALNTL5 polypeptide N-acetylgalactosaminyltransferase-like 5 O UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 15|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5|galNAc-T15|inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5|polypeptide GalNAc transferase 15|polypeptide GalNAc transferase-like 5|pp-GaNTase 15|protein-UDP acetylgalactosaminyltransferase 15|putative polypeptide N-acetylgalactosaminyltransferase-like protein 5 20141207 9606 169355 IDO2 - INDOL1 MIM:612129|HGNC:HGNC:27269|Ensembl:ENSG00000188676|HPRD:14113 8 8p11.21 indoleamine 2,3-dioxygenase 2 protein-coding IDO2 indoleamine 2,3-dioxygenase 2 O IDO-2|indoleamine 2,3-dioxygenase-like 1 protein|indoleamine 2,3-dioxygenase-like protein 1|indoleamine-pyrrole 2,3 dioxygenase-like 1|indoleamine-pyrrole 2,3-dioxygenase-like protein 1 20141211 9606 171568 POLR3H RP3-347H13.9 RPC22.9|RPC8 HGNC:HGNC:30349|Ensembl:ENSG00000100413|HPRD:15157|Vega:OTTHUMG00000150971 22 22q13.2 polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) protein-coding POLR3H polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) O DNA-directed RNA polymerase III subunit 22.9 kDa polypeptide|DNA-directed RNA polymerase III subunit H|DNA-directed RNA polymerase III subunit RPC8|RNA nucleotidyltransferase (DNA-directed)|RNA polymerase III subunit C8 20141207 9606 192134 B3GNT6 - B3Gn-T6|BGnT-6|beta-1,3-Gn-T6|beta3Gn-T6 MIM:615315|HGNC:HGNC:24141|Ensembl:ENSG00000198488|HPRD:16534|Vega:OTTHUMG00000181633 11 11q13.4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) protein-coding B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) O UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6|beta-1,3-N-acetylglucosaminyltransferase 6|beta-1,3-N-acetylglucosaminyltransferase protein|core 3 synthase 20141207 9606 196513 DCP1B - DCP1|hDcp1b MIM:609843|HGNC:HGNC:24451|Ensembl:ENSG00000151065|Vega:OTTHUMG00000168113 12 12p13.33 decapping mRNA 1B protein-coding DCP1B decapping mRNA 1B O DCP1 decapping enzyme homolog B|decapping enzyme hDcp1b|mRNA-decapping enzyme 1B 20141207 9606 196743 PAOX RP11-122K13.11-002 PAO MIM:615853|HGNC:HGNC:20837|Ensembl:ENSG00000148832|HPRD:10136|Vega:OTTHUMG00000019318 10 10q26.3 polyamine oxidase (exo-N4-amino) protein-coding PAOX polyamine oxidase (exo-N4-amino) O peroxisomal N(1)-acetyl-spermine/spermidine oxidase|peroxisomal N1-acetyl-spermine/spermidine oxidase 20141211 9606 196883 ADCY4 - AC4 MIM:600292|HGNC:HGNC:235|Ensembl:ENSG00000129467|HPRD:11614|Vega:OTTHUMG00000029347 14 14q12 adenylate cyclase 4 protein-coding ADCY4 adenylate cyclase 4 O ATP pyrophosphate-lyase 4|adenylate cyclase type 4|adenylate cyclase type IV|adenylyl cyclase 4 20141207 9606 197257 LDHD - DLD MIM:607490|HGNC:HGNC:19708|Ensembl:ENSG00000166816|HPRD:06318|Vega:OTTHUMG00000137605 16 16q23.1 lactate dehydrogenase D protein-coding LDHD lactate dehydrogenase D O D-lactate dehydrogenase|probable D-lactate dehydrogenase, mitochondrial 20141207 9606 197258 FUK UNQ5838 1110046B12Rik MIM:608675|HGNC:HGNC:29500|Ensembl:ENSG00000157353|HPRD:16365|Vega:OTTHUMG00000074085 16 16q22.1 fucokinase protein-coding FUK fucokinase O L-fucose kinase 20141207 9606 199857 ALG14 - - MIM:612866|HGNC:HGNC:28287|HPRD:14466 1 1p21.3 ALG14, UDP-N-acetylglucosaminyltransferase subunit protein-coding ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit O UDP-N-acetylglucosamine transferase subunit ALG14 homolog 20141207 9606 200576 PIKFYVE - CFD|FAB1|HEL37|PIP5K|PIP5K3|ZFYVE29 MIM:609414|HGNC:HGNC:23785|Ensembl:ENSG00000115020|HPRD:17852|Vega:OTTHUMG00000132945 2 2q34 phosphoinositide kinase, FYVE finger containing protein-coding PIKFYVE phosphoinositide kinase, FYVE finger containing O 1-phosphatidylinositol 3-phosphate 5-kinase|1-phosphatidylinositol-3-phosphate 5-kinase|PIPkin-III|epididymis luminal protein 37|phosphatidylinositol 3-phosphate 5-kinase type III|phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III|type III PIP kinase|zinc finger, FYVE domain containing 29 20141207 9606 201164 PLD6 - ZUC MIM:614960|HGNC:HGNC:30447|Ensembl:ENSG00000179598|HPRD:14126|Vega:OTTHUMG00000059278 17 17p11.2 phospholipase D family, member 6 protein-coding PLD6 phospholipase D family, member 6 O PLD 6|choline phosphatase 6|mitoPLD|mitochondrial cardiolipin hydrolase|mitochondrial phospholipase|phosphatidylcholine-hydrolyzing phospholipase D6|phospholipase D6|protein zucchini homolog 20141207 9606 204219 CERS3 - ARCI9|LASS3 MIM:615276|HGNC:HGNC:23752|Ensembl:ENSG00000154227|HPRD:13961|Vega:OTTHUMG00000172568 15 15q26.3 ceramide synthase 3 protein-coding CERS3 ceramide synthase 3 O LAG1 homolog, ceramide synthase 3|LAG1 longevity assurance homolog 3|dihydroceramide synthase 3 20141219 9606 204962 SLC44A5 - CTL5 HGNC:HGNC:28524|Ensembl:ENSG00000137968|HPRD:14580|Vega:OTTHUMG00000009721 1 1p31.1 solute carrier family 44, member 5 protein-coding SLC44A5 solute carrier family 44, member 5 O choline transporter-like protein 5 20141207 9606 219541 MED19 - DT2P1G7|LCMR1 MIM:612385|HGNC:HGNC:29600|Ensembl:ENSG00000156603|HPRD:17477|Vega:OTTHUMG00000167199 11 11q12.1 mediator complex subunit 19 protein-coding MED19 mediator complex subunit 19 O lung cancer metastasis-related protein 1|mediator of RNA polymerase II transcription subunit 19|mediator of RNA polymerase II transcription, subunit 19 homolog 20141207 9606 219988 PATL1 OK/KNS-cl.5 Pat1b|hPat1b MIM:614660|HGNC:HGNC:26721|Ensembl:ENSG00000166889|HPRD:08214|Vega:OTTHUMG00000167423 11 11q12.1 protein associated with topoisomerase II homolog 1 (yeast) protein-coding PATL1 protein associated with topoisomerase II homolog 1 (yeast) O PAT1-like protein 1|protein PAT1 homolog 1|protein PAT1 homolog b 20141207 9606 221223 CES5A - CAUXIN|CES4C1|CES5|CES7|HEL126 HGNC:HGNC:26459|Ensembl:ENSG00000159398|HPRD:07016|Vega:OTTHUMG00000133236 16 16q12.2 carboxylesterase 5A protein-coding CES5A carboxylesterase 5A O carboxylesterase 5|carboxylesterase 7|carboxylesterase-like urinary excreted protein homolog|epididymis luminal protein 126 20141207 9606 221357 GSTA5 - - MIM:607605|HGNC:HGNC:19662|Ensembl:ENSG00000182793|HPRD:09620|Vega:OTTHUMG00000014857 6 6p12.2 glutathione S-transferase alpha 5 protein-coding GSTA5 glutathione S-transferase alpha 5 O GST class-alpha member 5|glutathione S-transferase A5|glutathione S-transferase A5-5|glutathione transferase A5 20141207 9606 221823 PRPS1L1 hCG_1643027 PRPS1|PRPS3|PRPSL|PRS-III MIM:611566|HGNC:HGNC:9463|Ensembl:ENSG00000229937|HPRD:17914|Vega:OTTHUMG00000152742 7 7p21.1 phosphoribosyl pyrophosphate synthetase 1-like 1 protein-coding PRPS1L1 phosphoribosyl pyrophosphate synthetase 1-like 1 O PRPS1-like 1|phosphoribosyl pyrophosphate synthase 1-like 1|phosphoribosyl pyrophosphate synthase III|phosphoribosylpyrophosphate synthetase subunit III|ribose-phosphate diphosphokinase catalytic chain III|ribose-phosphate pyrophosphokinase 3|ribose-phosphate pyrophosphokinase III 20141207 9606 221914 GPC2 - - HGNC:HGNC:4450|Ensembl:ENSG00000213420|HPRD:17051|Vega:OTTHUMG00000154894 7 7q22.1 glypican 2 protein-coding GPC2 glypican 2 O cerebroglycan|glypican proteoglycan 2, cerebroglycan proteoglycan|glypican-2 20141207 9606 222537 HS3ST5 - 3-OST-5|3OST5|HS3OST5|NBLA04021 MIM:609407|HGNC:HGNC:19419|Ensembl:ENSG00000249853|HPRD:13674 6 6q21 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 protein-coding HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 O h3-OST-5|heparan sulfate 3-O-sulfotransferase 5|heparan sulfate 3-OST-5|heparan sulfate D-glucosaminyl 3-O-sulfotransferase 5|heparan sulfate glucosamine 3-O-sulfotransferase 5 20141207 9606 246721 POLR2J2 - HRPB11B|RPB11b1 MIM:609881|HGNC:HGNC:23208|Ensembl:ENSG00000267645|HPRD:17878|Vega:OTTHUMG00000180801 7 7q22.1 polymerase (RNA) II (DNA directed) polypeptide J2 protein-coding POLR2J2 polymerase (RNA) II (DNA directed) polypeptide J2 O DNA directed RNA polymerase II polypeptide J-related|DNA-directed RNA polymerase II subunit J2|DNA-directed RNA polymerase II subunit RPB11-b1|RNA polymerase II subunit B11-b1 20141207 9606 253430 IPMK - - MIM:609851|HGNC:HGNC:20739|Ensembl:ENSG00000151151|HPRD:17153|Vega:OTTHUMG00000018268 10 10q21.1 inositol polyphosphate multikinase protein-coding IPMK inositol polyphosphate multikinase O inositol 1,3,4,6-tetrakisphosphate 5-kinase 20141207 9606 253558 LCLAT1 UNQ1849/PRO3579 1AGPAT8|AGPAT8|ALCAT1|HSRG1849|LYCAT|UNQ1849 MIM:614241|HGNC:HGNC:26756|Ensembl:ENSG00000172954|HPRD:17458|Vega:OTTHUMG00000099349 2 2p23.1 lysocardiolipin acyltransferase 1 protein-coding LCLAT1 lysocardiolipin acyltransferase 1 O 1-AGP acyltransferase 8|1-AGPAT 8|1-acylglycerol-3-phosphate O-acyltransferase 8|acyl-CoA:lysocardiolipin acyltransferase 1 20141207 9606 253782 CERS6 - CERS5|LASS6 MIM:615336|HGNC:HGNC:23826|Ensembl:ENSG00000172292|HPRD:17258|Vega:OTTHUMG00000132183 2 2q24.3 ceramide synthase 6 protein-coding CERS6 ceramide synthase 6 O LAG1 homolog, ceramide synthase 6|longevity assurance homolog 6 20141207 9606 254531 LPCAT4 - AGPAT7|AYTL3|LPAAT-eta|LPEAT2 MIM:612039|HGNC:HGNC:30059|Ensembl:ENSG00000176454|HPRD:08315|Vega:OTTHUMG00000172349 15 15q14 lysophosphatidylcholine acyltransferase 4 protein-coding LPCAT4 lysophosphatidylcholine acyltransferase 4 O 1-AGP acyltransferase 7|1-AGPAT 7|1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)|1-acylglycerophosphocholine O-acyltransferase|1-acylglycerophosphoserine O-acyltransferase|1-alkenylglycerophosphoethanolamine O-acyltransferase|1-alkylglycerophosphocholine O-acetyltransferase|PLSC domain containing protein|acyl-CoA:lysophosphatidylethanolamine acyltransferase 2|acyltransferase like 3|acyltransferase-like 3|lysophosphatidylethanolamine acyltransferase 2|lysophospholipid acyltransferase LPCAT4|plasmalogen synthase 20141207 9606 255189 PLA2G4F - PLA2G4FZ HGNC:HGNC:27396|HPRD:17326 15 15q15.1 phospholipase A2, group IVF protein-coding PLA2G4F phospholipase A2, group IVF O cPLA2-zeta|cytosolic phospholipase A2 zeta 20141207 9606 256435 ST6GALNAC3 UNQ2787/PRO7177 PRO7177|SIAT7C|ST6GALNACIII|STY MIM:610133|HGNC:HGNC:19343|Ensembl:ENSG00000184005|HPRD:15341|Vega:OTTHUMG00000009615 1 1p31.1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 protein-coding ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 O GalNAc alpha-2,6-sialyltransferase III|SIAT7-C|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltran|ST6GALNAC III|alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3|alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase III|sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C|sialyltransferase 7C 20141207 9606 257202 GPX6 - GPX5p|GPXP3|GPx-6|GSHPx-6|dJ1186N24|dJ1186N24.1 MIM:607913|HGNC:HGNC:4558|Ensembl:ENSG00000198704|HPRD:12132|Vega:OTTHUMG00000044828 6 6p22.1 glutathione peroxidase 6 (olfactory) protein-coding GPX6 glutathione peroxidase 6 (olfactory) O glutathione peroxidase 6|glutathione peroxidase pseudogene 3 20141207 9606 259230 SGMS1 - MOB|MOB1|SMS1|TMEM23|hmob33 MIM:611573|HGNC:HGNC:29799|Ensembl:ENSG00000198964|HPRD:18203|Vega:OTTHUMG00000018231 10 10q11.2 sphingomyelin synthase 1 protein-coding SGMS1 sphingomyelin synthase 1 O medulla oblongata-derived protein|phosphatidylcholine:ceramide cholinephosphotransferase 1|protein Mob|transmembrane protein 23 20141207 9606 259307 IL4I1 UNQ636/PRO1265 FIG1|LAAO|LAO MIM:609742|HGNC:HGNC:19094|Ensembl:ENSG00000104951|HPRD:17146|Vega:OTTHUMG00000183377 19 19q13.3-q13.4 interleukin 4 induced 1 protein-coding IL4I1 interleukin 4 induced 1 O Fig-1 protein|IL4-induced protein 1|L-amino-acid oxidase|interleukin four induced 1 20141207 9606 266722 HS6ST3 RP11-235O20.1 HS6ST-3 MIM:609401|HGNC:HGNC:19134|Ensembl:ENSG00000185352|HPRD:11030|Vega:OTTHUMG00000017232 13 13q32.1 heparan sulfate 6-O-sulfotransferase 3 protein-coding HS6ST3 heparan sulfate 6-O-sulfotransferase 3 O heparan-sulfate 6-O-sulfotransferase 3 20141207 9606 283208 P4HA3 UNQ711/PRO1374 - MIM:608987|HGNC:HGNC:30135|Ensembl:ENSG00000149380|HPRD:16413|Vega:OTTHUMG00000165254 11 11q13.4 prolyl 4-hydroxylase, alpha polypeptide III protein-coding P4HA3 prolyl 4-hydroxylase, alpha polypeptide III O 4-PH alpha-3|C-P4H alpha III|collagen prolyl 4-hydroxylase alpha(III)|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III|prolyl 4-hydroxylase subunit alpha-3 20141207 9606 283209 PGM2L1 - BM32A MIM:611610|HGNC:HGNC:20898|Ensembl:ENSG00000165434|HPRD:11427|Vega:OTTHUMG00000168132 11 11q13.4 phosphoglucomutase 2-like 1 protein-coding PGM2L1 phosphoglucomutase 2-like 1 O PMMLP|glucose 1,6-bisphosphate synthase|glucose-1,6-bisphosphate synthase|phosphoglucomutase-2-like 1 20141207 9606 283463 MUC19 - MUC-19 MIM:612170|HGNC:HGNC:14362 12 12q12 mucin 19, oligomeric protein-coding MUC19 mucin 19, oligomeric O mucin-19 20141207 9606 283464 GXYLT1 - GLT8D3 MIM:613321|HGNC:HGNC:27482|Ensembl:ENSG00000151233|Vega:OTTHUMG00000169379 12 12q12 glucoside xylosyltransferase 1 protein-coding GXYLT1 glucoside xylosyltransferase 1 O glycosyltransferase 8 domain containing 3|glycosyltransferase 8 domain-containing protein 3 20141207 9606 283748 PLA2G4D - cPLA2delta MIM:612864|HGNC:HGNC:30038|Ensembl:ENSG00000159337|HPRD:07145|Vega:OTTHUMG00000172587 15 15q15.1 phospholipase A2, group IVD (cytosolic) protein-coding PLA2G4D phospholipase A2, group IVD (cytosolic) O cPLA2-delta|cytosolic phospholipase A2 delta|phospholipase A2 delta, cytosolic|phospholipase A2 group IVD 20141207 9606 283871 PGP - PGPase MIM:172280|HGNC:HGNC:8909|Ensembl:ENSG00000184207|Vega:OTTHUMG00000177047 16 16p13.3 phosphoglycolate phosphatase protein-coding PGP phosphoglycolate phosphatase O - 20141207 9606 284098 PIGW - Gwt1|HPMRS5 MIM:610275|HGNC:HGNC:23213|Ensembl:ENSG00000277161|HPRD:11432|Vega:OTTHUMG00000188438 17 17q12 phosphatidylinositol glycan anchor biosynthesis, class W protein-coding PIGW phosphatidylinositol glycan anchor biosynthesis, class W O PIG-W|phosphatidylinositol glycan, class W|phosphatidylinositol-glycan biosynthesis class W protein 20141207 9606 285362 SUMF1 UNQ3037 AAPA3037|FGE MIM:607939|HGNC:HGNC:20376|Ensembl:ENSG00000144455|HPRD:06399|Vega:OTTHUMG00000090269 3 3p26.1 sulfatase modifying factor 1 protein-coding SUMF1 sulfatase modifying factor 1 O C-alpha-formylglycine-generating enzyme 1|FGly-generating enzyme|sulfatase-modifying factor 1 20141207 9606 285596 FAM153A - NY-REN-7 HGNC:HGNC:29940|Ensembl:ENSG00000170074|HPRD:14870|Vega:OTTHUMG00000163394 5 5q35.3 family with sequence similarity 153, member A protein-coding FAM153A family with sequence similarity 153, member A O NY REN 7 antigen|protein FAM153A|renal carcinoma antigen NY-REN-7 20141207 9606 317749 DHRS4L2 - SDR25C3 MIM:615196|HGNC:HGNC:19731|Ensembl:ENSG00000187630|HPRD:10880|Vega:OTTHUMG00000028778 14 14q11.2 dehydrogenase/reductase (SDR family) member 4 like 2 protein-coding DHRS4L2 dehydrogenase/reductase (SDR family) member 4 like 2 O NADP(H)-dependent retinol dehydrogenase/reductase short isoform-like protein|dehydrogenase/reductase (SDR family) member 4 like 2A3|dehydrogenase/reductase SDR family member 4-like 2|short chain dehydrogenase/reductase family 25C, member 3 20141207 9606 326625 MMAB - ATR|CFAP23|cblB|cob MIM:607568|HGNC:HGNC:19331|Ensembl:ENSG00000139428|HPRD:07398|Vega:OTTHUMG00000169255 12 12q24 methylmalonic aciduria (cobalamin deficiency) cblB type protein-coding MMAB methylmalonic aciduria (cobalamin deficiency) cblB type O ATP:cob(I)alamin adenosyltransferase|ATP:corrinoid adenosyltransferase|aquocob(I)alamin vitamin B12s adenosyltransferase|cilia and flagella associated protein 23|cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial|methylmalonic aciduria type B protein 20141219 9606 337876 CHSY3 - CHSY2|CSS3 MIM:609963|HGNC:HGNC:24293|Ensembl:ENSG00000198108|HPRD:16766|Vega:OTTHUMG00000163043 5 5q23.3 chondroitin sulfate synthase 3 protein-coding CHSY3 chondroitin sulfate synthase 3 O N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 3|N-acetylgalactosaminyltransferase 3|carbohydrate synthase 2|chSy-2|chondroitin glucuronyltransferase 3|chondroitin synthase 2|chondroitin synthase-2|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II 20141207 9606 338557 FFAR4 - BMIQ10|GPR120|GPR129|GT01|O3FAR1|PGR4 MIM:609044|HGNC:HGNC:19061|Ensembl:ENSG00000186188|HPRD:16422|Vega:OTTHUMG00000034409 10 10q23.33 free fatty acid receptor 4 protein-coding FFAR4 free fatty acid receptor 4 O G-protein coupled receptor 120|G-protein coupled receptor 129|G-protein coupled receptor GT01|G-protein coupled receptor PGR4|omega-3 fatty acid receptor 1 20141222 9606 338596 ST8SIA6 - SIA8F|SIAT8F|ST8SIA-VI MIM:610139|HGNC:HGNC:23317|HPRD:15344 10 10p12.33 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 protein-coding ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 O SIAT8-F|ST8SiaVI|alpha-2,8-sialyltransferase 8F|alpha-2,8-sialyltransferase 8F variant 2|alpha-2,8-sialyltransferase 8F variant 3|sialyltransferase 8F (alpha-2, 8-sialyltransferase)|sialyltransferase St8Sia VI|sialytransferase St8Sia VI 20141207 9606 339221 ENPP7 UNQ3077/PRO9912 ALK-SMase|E-NPP 7|NPP-7|NPP7 HGNC:HGNC:23764|Ensembl:ENSG00000182156|Vega:OTTHUMG00000177462 17 17q25.3 ectonucleotide pyrophosphatase/phosphodiesterase 7 protein-coding ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 O alkaline sphingomyelin phosphodiesterase|alkaline sphingomyelinase|ectonucleotide pyrophosphatase/phosphodiesterase family member 7|intestinal alkaline sphingomyelinase 20141207 9606 340075 ARSI - SPG66 MIM:610009|HGNC:HGNC:32521|Ensembl:ENSG00000183876|HPRD:16510|Vega:OTTHUMG00000163479 5 5q32 arylsulfatase family, member I protein-coding ARSI arylsulfatase family, member I O ASI|arylsulfatase I 20141207 9606 340485 ACER2 RP11-363E7.1 ALKCDase2|ASAH3L MIM:613492|HGNC:HGNC:23675|HPRD:16512 9 9p22.1 alkaline ceramidase 2 protein-coding ACER2 alkaline ceramidase 2 O alkCDase 2|alkaline CDase 2|ceramide hydrolase|haCER2 20141207 9606 341392 ACSM4 - - MIM:614360|HGNC:HGNC:32016|Ensembl:ENSG00000215009|Vega:OTTHUMG00000154975 12 12p13.31 acyl-CoA synthetase medium-chain family member 4 protein-coding ACSM4 acyl-CoA synthetase medium-chain family member 4 O acyl-coenzyme A synthetase ACSM4, mitochondrial 20141207 9606 347527 ARSH - sulfatase MIM:300586|HGNC:HGNC:32488|Ensembl:ENSG00000205667|HPRD:16509|Vega:OTTHUMG00000159612 X Xp22.33 arylsulfatase family, member H protein-coding ARSH arylsulfatase family, member H O ASH|arylsulfatase H 20141207 9606 347733 TUBB2B RP11-506K6.1 PMGYSA|bA506K6.1 MIM:612850|HGNC:HGNC:30829|Ensembl:ENSG00000137285|HPRD:14707|Vega:OTTHUMG00000014143 6 6p25 tubulin, beta 2B class IIb protein-coding TUBB2B tubulin, beta 2B class IIb O class II beta-tubulin isotype|class IIb beta-tubulin|tubulin beta-2B chain|tubulin, beta polypeptide paralog 20141207 9606 348995 NUP43 - bA350J20.1|p42 MIM:608141|HGNC:HGNC:21182|Ensembl:ENSG00000120253|HPRD:12174|Vega:OTTHUMG00000015795 6 6q25.1 nucleoporin 43kDa protein-coding NUP43 nucleoporin 43kDa O nucleoporin Nup43|nup107-160 subcomplex subunit Nup43 20141207 9606 349565 NMNAT3 FKSG76 PNAT-3|PNAT3 MIM:608702|HGNC:HGNC:20989|Ensembl:ENSG00000163864|HPRD:16370|Vega:OTTHUMG00000159951 3 3q23 nicotinamide nucleotide adenylyltransferase 3 protein-coding NMNAT3 nicotinamide nucleotide adenylyltransferase 3 O NMN adenylyltransferase 3|NaMN adenylyltransferase 3|nicotinamide mononucleotide adenylyltransferase 3|nicotinate-nucleotide adenylyltransferase 3|pyridine nucleotide adenylyltransferase 3 20141207 9606 373156 GSTK1 HDCMD47P GST|GST 13-13|GST13|GST13-13|GSTK1-1|hGSTK1 MIM:602321|HGNC:HGNC:16906|Ensembl:ENSG00000197448|Vega:OTTHUMG00000152637 7 7q34 glutathione S-transferase kappa 1 protein-coding GSTK1 glutathione S-transferase kappa 1 O GST class-kappa|glutathione S-transferase k1|glutathione S-transferase subunit 13 homolog 20141207 9606 374378 GALNT18 - GALNACT18|GALNT15|GALNTL4|GalNAc-T15|GalNAc-T18 MIM:615136|HGNC:HGNC:30488|Ensembl:ENSG00000110328|HPRD:13564|Vega:OTTHUMG00000165707 11 11p15.3 polypeptide N-acetylgalactosaminyltransferase 18 protein-coding GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 O GalNAc-transferase 18|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4|galNAc-T-like protein 4|polypeptide GalNAc transferase 18|polypeptide GalNAc transferase-like protein 4|polypeptide N-acetylgalactosaminyltransferase-like protein 4|pp-GaNTase-like protein 4|protein-UDP acetylgalactosaminyltransferase-like protein 4|putative polypeptide N-acetylgalactosaminyltransferase-like protein 4 20141207 9606 374907 B3GNT8 - B3GALT7|BGALT15|beta3Gn-T8 MIM:615357|HGNC:HGNC:24139|Ensembl:ENSG00000177191|HPRD:12510|Vega:OTTHUMG00000182749 19 19q13.2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 protein-coding B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 O BGnT-8|UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 7|beta galactosyltransferase BGALT15|beta-1,3-Gn-T8|beta-1,3-N-acetylglucosaminyltransferase 8|beta1,3-N-acetylglucosaminyltransferase 8 20141222 9606 375790 AGRN RP11-54O7.13-009 CMSPPD MIM:103320|HGNC:HGNC:329|Ensembl:ENSG00000188157|HPRD:10550|Vega:OTTHUMG00000040778 1 1p36.33 agrin protein-coding AGRN agrin O agrin proteoglycan 20141219 9606 376497 SLC27A1 - ACSVL5|FATP|FATP1 MIM:600691|HGNC:HGNC:10995|Ensembl:ENSG00000130304|HPRD:11863|Vega:OTTHUMG00000182878 19 19p13.11 solute carrier family 27 (fatty acid transporter), member 1 protein-coding SLC27A1 solute carrier family 27 (fatty acid transporter), member 1 O FATP-1|fatty acid transport protein 1|long-chain fatty acid transport protein 1|solute carrier family 27 member 1 20141207 9606 377677 CA13 - CAXIII MIM:611436|HGNC:HGNC:14914|Ensembl:ENSG00000185015|HPRD:12992|Vega:OTTHUMG00000164940 8 8q21.2 carbonic anhydrase XIII protein-coding CA13 carbonic anhydrase XIII O CA-XIII|carbonate dehydratase XIII|carbonic anhydrase 13 20141207 9606 377841 ENTPD8 UNQ2492/PRO5779 E-NTPDase|GLSR2492|NTPDase-8|UNQ2492 HGNC:HGNC:24860|Ensembl:ENSG00000188833|HPRD:16864|Vega:OTTHUMG00000131831 9 9q34.3 ectonucleoside triphosphate diphosphohydrolase 8 protein-coding ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 O E-NTPDase 8|liver ecto-ATP-diphosphohydrolase 20141207 9606 389434 IYD - C6orf71|DEHAL1|TDH4|dJ422F24.1 MIM:612025|HGNC:HGNC:21071|Ensembl:ENSG00000009765|HPRD:16668|Vega:OTTHUMG00000016347 6 6q25.1 iodotyrosine deiodinase protein-coding IYD iodotyrosine deiodinase O IYD-1|iodotyrosine dehalogenase 1 20141207 9606 391013 PLA2G2C RP3-340N1.3 - HGNC:HGNC:9032|Ensembl:ENSG00000187980 1 1p36.12 phospholipase A2, group IIC protein-coding PLA2G2C phospholipase A2, group IIC O phosphatidylcholine 2-acylhydrolase-like protein GIIC|phospholipase A2, group IIC (possible pseudogene)|putative inactive group IIC secretory phospholipase A2 20141207 9606 394263 MUC21 DAAP-223I5.2 C6orf205|KMQK697|MUC-21|bCX31G15.2 HGNC:HGNC:21661|Ensembl:ENSG00000204544|HPRD:16665|Vega:OTTHUMG00000031216 6 6p21.32 mucin 21, cell surface associated protein-coding MUC21 mucin 21, cell surface associated O epiglycanin|mucin-21 20141207 9606 400569 MED11 HSPC296 - MIM:612383|HGNC:HGNC:32687|Ensembl:ENSG00000161920|HPRD:14709|Vega:OTTHUMG00000177896 17 17p13.2 mediator complex subunit 11 protein-coding MED11 mediator complex subunit 11 O mediator of RNA polymerase II transcription subunit 11|mediator of RNA polymerase II transcription, subunit 11 homolog 20141207 9606 401505 TOMM5 - C9orf105|Tom5|bA613M10.3 HGNC:HGNC:31369|Ensembl:ENSG00000175768|HPRD:16672|Vega:OTTHUMG00000019923 9 9p13.2 translocase of outer mitochondrial membrane 5 homolog (yeast) protein-coding TOMM5 translocase of outer mitochondrial membrane 5 homolog (yeast) O mitochondrial import receptor subunit TOM5 homolog|mitochondrial outer membrane protein TOM5 20141207 9606 440138 ALG11 RP11-248G5.6 CDG1P|GT8 MIM:613666|HGNC:HGNC:32456|Ensembl:ENSG00000253710|HPRD:11265|Vega:OTTHUMG00000016959 13 13q14.2 ALG11, alpha-1,2-mannosyltransferase protein-coding ALG11 ALG11, alpha-1,2-mannosyltransferase O GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase|GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase|asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog|asparagine-linked glycosylation protein 11 homolog|glycolipid 2-alpha-mannosyltransferase 20141219 9606 441024 MTHFD2L - - MIM:614047|HGNC:HGNC:31865|Ensembl:ENSG00000163738|HPRD:17608|Vega:OTTHUMG00000157135 4 4q13.3 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like protein-coding MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like O MTHFD2-like|NADP-dependent methylenetetrahydrofolate dehydrogenase 2-like protein|probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 20141207 9606 441531 PGAM4 - PGAM-B|PGAM1|PGAM3|dJ1000K24.1 MIM:300567|HGNC:HGNC:21731 X Xq13 phosphoglycerate mutase family member 4 protein-coding PGAM4 phosphoglycerate mutase family member 4 O phosphoglycerate mutase 4|phosphoglycerate mutase family 3|phosphoglycerate mutase processed protein|probable phosphoglycerate mutase 4 20141207 9606 442117 GALNTL6 - GALNACT20|GALNT17|GalNAc-T6L MIM:615138|HGNC:HGNC:33844 4 4q34.1 polypeptide N-acetylgalactosaminyltransferase-like 6 protein-coding GALNTL6 polypeptide N-acetylgalactosaminyltransferase-like 6 O GaNTase 17|GalNAc transferase 17|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 20|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6|galNAc-T17|polypeptide GalNAc transferase 17|polypeptide GalNAc transferase-like 6|pp-GaNTase 17|protein-UDP acetylgalactosaminyltransferase 17|putative polypeptide N-acetylgalactosaminyltransferase 17 20141207 9606 445329 SULT1A4 - HAST3|M-PST|ST1A3/ST1A4|ST1A4|TL-PST MIM:615819|HGNC:HGNC:30004|Ensembl:ENSG00000213648|HPRD:18659|Vega:OTTHUMG00000170468 16 16p11.2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4 protein-coding SULT1A4 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4 O SLX1B-SULT1A4|aryl sulfotransferase 1A3/1A4|catecholamine-sulfating phenol sulfotransferase|monoamine-sulfating phenol sulfotransferase|placental estrogen sulfotransferase|sulfokinase|sulfotransferase 1A4|sulfotransferase, monoamine-preferring|thermolabile phenol sulfotransferase 20141207 9606 548596 CKMT1A - CKMT1 MIM:613415|HGNC:HGNC:31736|Ensembl:ENSG00000223572|HPRD:18683|Vega:OTTHUMG00000059898 15 15q15 creatine kinase, mitochondrial 1A protein-coding CKMT1A creatine kinase, mitochondrial 1A O U-MtCK|acidic-type mitochondrial creatine kinase|creatine kinase U-type, mitochondrial|creatine kinase, mitochondrial 1 (ubiquitous)|mia-CK|ubiquitous mitochondrial creatine kinase 20141207 9606 548644 POLR2J3 - POLR2J2|RPB11b1|RPB11b2 HGNC:HGNC:33853|Ensembl:ENSG00000168255|HPRD:18684|Vega:OTTHUMG00000150384 7 7q22.1 polymerase (RNA) II (DNA directed) polypeptide J3 protein-coding POLR2J3 polymerase (RNA) II (DNA directed) polypeptide J3 O DNA-directed RNA polymerase II subunit 11|DNA-directed RNA polymerase II subunit J3|DNA-directed RNA polymerase II subunit RPB11-b2|RNA polymerase II subunit B11-b2 20141207 9606 644378 GCNT6 - bA421M1.3 HGNC:HGNC:21623 6 6p24.2 glucosaminyl (N-acetyl) transferase 6 protein-coding GCNT6 glucosaminyl (N-acetyl) transferase 6 O beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 6 20141207 9606 644504 LOC644504 RP1-19N1.1 - - X Xq22.3 novel protein similar to chondroitin sulfate GalNAcT-2 (GALNACT-2) protein-coding - - - - 20141207 9606 646625 URAD - PRHOXNB MIM:615804|HGNC:HGNC:17785 13 13q12.2 ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase protein-coding URAD ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase O OHCU decarboxylase|parahox cluster neighbor|parahox neighbor|putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase 20141207 9606 654364 NME1-NME2 hCG_2001850 NM23-LV|NMELV HGNC:HGNC:33531|Ensembl:ENSG00000011052|Vega:OTTHUMG00000137475 17 17q21.3 NME1-NME2 readthrough protein-coding NME1-NME2 NME1-NME2 readthrough O NME1-NME2 protein|NME1-NME2 readthrough transcript 20141207 9606 727897 MUC5B - MG1|MUC-5B|MUC5|MUC9 MIM:600770|HGNC:HGNC:7516|Ensembl:ENSG00000117983|Vega:OTTHUMG00000166494 11 11p15.5 mucin 5B, oligomeric mucus/gel-forming protein-coding MUC5B mucin 5B, oligomeric mucus/gel-forming O cervical mucin MUC5B|high molecular weight salivary mucin MG1|mucin 5, subtype B, tracheobronchial|mucin-5B|sublingual gland mucin 20141222 9606 727936 GXYLT2 - GLT8D4 MIM:613322|HGNC:HGNC:33383 3 3p13 glucoside xylosyltransferase 2 protein-coding GXYLT2 glucoside xylosyltransferase 2 O glycosyltransferase 8 domain containing 4|glycosyltransferase 8 domain-containing protein 4 20141207 9606 728294 D2HGDH hCG_31745 D2HGD MIM:609186|HGNC:HGNC:28358|Ensembl:ENSG00000180902|HPRD:14502|Vega:OTTHUMG00000151474 2 2q37.3 D-2-hydroxyglutarate dehydrogenase protein-coding D2HGDH D-2-hydroxyglutarate dehydrogenase O D-2-hydroxyglutarate dehydrogenase, mitochondrial 20141207 9606 100137049 PLA2G4B - HsT16992|cPLA2-beta MIM:606088|HGNC:HGNC:9036|Ensembl:ENSG00000243708|Vega:OTTHUMG00000156809 15 15q11.2-q21.3 phospholipase A2, group IVB (cytosolic) protein-coding PLA2G4B phospholipase A2, group IVB (cytosolic) O cytosolic phospholipase A2 beta 20141207 9606 100652748 TIMM23B RP11-592B15.7 TIMM23|bA592B15.7 HGNC:HGNC:23581|Ensembl:ENSG00000204152|Vega:OTTHUMG00000018213 10 10q11.23 translocase of inner mitochondrial membrane 23 homolog B (yeast) protein-coding TIMM23B translocase of inner mitochondrial membrane 23 homolog B (yeast) O putative mitochondrial import inner membrane translocase subunit Tim23B 20141207