CleftGeneDB-Search

Gene: PGAP2

Basic information

Tag	Content
Uniprot ID	Q9UHJ9; E9PJG5; H7BXL9; Q6UC77; Q96G66; Q9UF01; Q9Y4N1;
Entrez ID	27315
Genbank protein ID	EAX02571.1; BAF84870.1; AAF12755.1; AAQ75733.1; CAB46428.3; EAX02568.1; EAX02569.1; AAH09930.1; AAF19156.1;
Genbank nucleotide ID	NM_001145438.2; XM_011520003.2; NM_001256237.1; NM_001256240.1; XM_011520004.2; XM_011520002.1; XM_006718190.3; NM_001346405.1; XM_006718191.3; NM_001283038.1; NM_001256235.1; NM_001256238.1; NM_001256236.1; NM_001256239.1; NM_001283040.1; NM_001346398.1; NM_014489.3; NM_001346400.1; NM_001283039.1;
Ensembl protein ID	ENSP00000278243; ENSP00000431851; ENSP00000434631; ENSP00000435223; ENSP00000300730;
Ensembl nucleotide ID	ENSG00000148985
Gene name	Post-GPI attachment to proteins factor 2
Gene symbol	PGAP2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface.
Sequence	MYQVPLPLDR DGTLVRLRFT MVALVTVCCP LVAFLFCILW SLLFHFKETT ATHCGVPNYL 60 PSVSSAIGGE VPQRYVWRFC IGLHSAPRFL VAFAYWNHYL SCTSPCSCYR PLCRLNFGLN 120 VVENLALLVL TYVSSSEDFT IHENAFIVFI ASSLGHMLLT CILWRLTKKH TVSQEDRKSY 180 SWKQRLFIIN FISFFSALAV YFRHNMYCEA GVYTIFAILE YTVVLTNMAF HMTAWWDFGN 240 KELLITSQPE EKRF 254

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PGAP2	540520	A6H7B8		Bos taurus	Prediction	More>>
1:1 ortholog	PGAP2	102190338	A0A452GA35		Capra hircus	Prediction	More>>
1:1 ortholog	PGAP2	100053037	A0A3Q2HNJ2		Equus caballus	Prediction	More>>
1:1 ortholog	PGAP2	27315	Q9UHJ9		Homo sapiens	Prediction	More>>
1:1 ortholog	Pgap2	233575	Q3TQR0	CPO,CLP,CLO	Mus musculus	Publication	More>>
1:1 ortholog	PGAP2	743877	K7AX68		Pan troglodytes	Prediction	More>>
1:1 ortholog	PGAP2		A0A286ZK90		Sus scrofa	Prediction	More>>
1:1 ortholog	Pgap2		D4ACY7		Rattus norvegicus	Prediction	More>>
1:1 ortholog	pgap2	541417	G1K2N7		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1163385753	p.Tyr2Ser	missense variant	-	NC_000011.10:g.3811264A>C	gnomAD
rs758096630	p.Tyr2His	missense variant	-	NC_000011.10:g.3811263T>C	ExAC,gnomAD
rs758096630	p.Tyr2Asn	missense variant	-	NC_000011.10:g.3811263T>A	ExAC,gnomAD
rs746651066	p.Gln3Arg	missense variant	-	NC_000011.10:g.3811267A>G	ExAC,gnomAD
rs770386630	p.Gln3His	missense variant	-	NC_000011.10:g.3811268G>C	ExAC,gnomAD
rs575001378	p.Val4Ile	missense variant	-	NC_000011.10:g.3811269G>A	ExAC,TOPMed,gnomAD
rs1412514761	p.Pro5Leu	missense variant	-	NC_000011.10:g.3811273C>T	TOPMed
rs201888053	p.Pro7Ser	missense variant	-	NC_000011.10:g.3811278C>T	gnomAD
rs181958368	p.Arg10Trp	missense variant	-	NC_000011.10:g.3811287C>T	1000Genomes,gnomAD
rs774704416	p.Arg10Gln	missense variant	-	NC_000011.10:g.3811288G>A	ExAC,TOPMed,gnomAD
rs181958368	p.Arg10Gly	missense variant	-	NC_000011.10:g.3811287C>G	1000Genomes,gnomAD
rs773359554	p.Arg16Trp	missense variant	-	NC_000011.10:g.3811305C>T	ExAC,TOPMed,gnomAD
rs773359554	p.Arg16Trp	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3811305C>T	UniProt,dbSNP
VAR_069664	p.Arg16Trp	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3811305C>T	UniProt
rs144780584	p.Arg16Gln	missense variant	-	NC_000011.10:g.3811306G>A	ESP,ExAC,TOPMed,gnomAD
rs200164387	p.Arg18Cys	missense variant	-	NC_000011.10:g.3811311C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753908644	p.Arg18His	missense variant	-	NC_000011.10:g.3811312G>A	ExAC,TOPMed,gnomAD
COSM3447178	p.Thr20Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.3811318C>T	NCI-TCGA Cosmic
rs551501269	p.Met21Val	missense variant	-	NC_000011.10:g.3811320A>G	1000Genomes,ExAC,gnomAD
rs1258435874	p.Met21Thr	missense variant	-	NC_000011.10:g.3811321T>C	TOPMed
rs151300350	p.Val27Ile	missense variant	-	NC_000011.10:g.3811338G>A	ESP,ExAC,TOPMed,gnomAD
rs566540096	p.Leu31Val	missense variant	-	NC_000011.10:g.3811350C>G	1000Genomes,ExAC,gnomAD
rs140588348	p.Val32Phe	missense variant	-	NC_000011.10:g.3811353G>T	ESP,ExAC,gnomAD
rs780695725	p.Val32Ala	missense variant	-	NC_000011.10:g.3811354T>C	ExAC,gnomAD
rs745318258	p.Phe34Tyr	missense variant	-	NC_000011.10:g.3811360T>A	ExAC,gnomAD
rs748670560	p.Leu39Phe	missense variant	-	NC_000011.10:g.3811374C>T	ExAC,gnomAD
rs376934151	p.Trp40Ter	stop gained	-	NC_000011.10:g.3811378G>A	ESP,ExAC,TOPMed,gnomAD
rs1310988445	p.Leu42Pro	missense variant	-	NC_000011.10:g.3811384T>C	TOPMed
rs1310988445	p.Leu42Gln	missense variant	-	NC_000011.10:g.3811384T>A	TOPMed
rs1276892945	p.Leu43Phe	missense variant	-	NC_000011.10:g.3811386C>T	gnomAD
rs1263281067	p.Lys47Asn	missense variant	-	NC_000011.10:g.3811400G>T	gnomAD
NCI-TCGA novel	p.Thr49Ile	missense variant	-	NC_000011.10:g.3811405C>T	NCI-TCGA
NCI-TCGA novel	p.Thr49Ala	missense variant	-	NC_000011.10:g.3811404A>G	NCI-TCGA
rs760866870	p.Thr50Met	missense variant	-	NC_000011.10:g.3811408C>T	ExAC,gnomAD
rs1416247677	p.Thr52Lys	missense variant	-	NC_000011.10:g.3811414C>A	TOPMed
rs1162652415	p.Asn58Ser	missense variant	-	NC_000011.10:g.3823890A>G	gnomAD
rs1395853662	p.Pro61Leu	missense variant	-	NC_000011.10:g.3823899C>T	gnomAD
rs753713581	p.Ser62Leu	missense variant	-	NC_000011.10:g.3823902C>T	ExAC,gnomAD
rs1245756175	p.Ser64Asn	missense variant	-	NC_000011.10:g.3823908G>A	gnomAD
NCI-TCGA novel	p.Ser64Gly	missense variant	-	NC_000011.10:g.3823907A>G	NCI-TCGA
rs752346360	p.Ala66Gly	missense variant	-	NC_000011.10:g.3823914C>G	ExAC,gnomAD
rs752346360	p.Ala66Val	missense variant	-	NC_000011.10:g.3823914C>T	ExAC,gnomAD
rs1322012443	p.Ala66Thr	missense variant	-	NC_000011.10:g.3823913G>A	gnomAD
rs200492831	p.Gly68Ser	missense variant	-	NC_000011.10:g.3823919G>A	ExAC,gnomAD
rs770306400	p.Gly69Arg	missense variant	-	NC_000011.10:g.3823922G>C	ExAC,TOPMed,gnomAD
rs770306400	p.Gly69Arg	missense variant	-	NC_000011.10:g.3823922G>A	ExAC,TOPMed,gnomAD
rs533117826	p.Glu70Gly	missense variant	-	NC_000011.10:g.3823926A>G	1000Genomes,ExAC,gnomAD
rs551147697	p.Val71Gly	missense variant	-	NC_000011.10:g.3823929T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs768968302	p.Pro72Ala	missense variant	-	NC_000011.10:g.3823931C>G	ExAC,gnomAD
rs142043517	p.Arg74His	missense variant	-	NC_000011.10:g.3823938G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg74Cys	missense variant	-	NC_000011.10:g.3823937C>T	NCI-TCGA
rs1425843156	p.Tyr75Phe	missense variant	-	NC_000011.10:g.3823941A>T	TOPMed,gnomAD
rs1466915285	p.Tyr75His	missense variant	-	NC_000011.10:g.3823940T>C	gnomAD
rs1004641277	p.Val76Met	missense variant	-	NC_000011.10:g.3823943G>A	gnomAD
rs772273646	p.Arg78Cys	missense variant	-	NC_000011.10:g.3823949C>T	ExAC,gnomAD
rs1333415465	p.Arg78His	missense variant	-	NC_000011.10:g.3823950G>A	TOPMed,gnomAD
rs143536266	p.Cys80Ser	missense variant	-	NC_000011.10:g.3823955T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile81Ser	missense variant	-	NC_000011.10:g.3823959T>G	NCI-TCGA
NCI-TCGA novel	p.Gly82ProPheSerTerUnkUnkUnk	frameshift	-	NC_000011.10:g.3823961_3823962GG>-	NCI-TCGA
rs1337881496	p.Gly82Ser	missense variant	-	NC_000011.10:g.3823961G>A	TOPMed,gnomAD
rs370582493	p.Leu83Val	missense variant	-	NC_000011.10:g.3823964C>G	ESP,ExAC,TOPMed,gnomAD
rs752467302	p.Ser85Trp	missense variant	-	NC_000011.10:g.3823971C>G	ExAC,gnomAD
rs752467302	p.Ser85Leu	missense variant	-	NC_000011.10:g.3823971C>T	ExAC,gnomAD
rs764951853	p.Ser85Ala	missense variant	-	NC_000011.10:g.3823970T>G	ExAC,gnomAD
rs751191276	p.Ala86Val	missense variant	-	NC_000011.10:g.3823974C>T	ExAC,TOPMed,gnomAD
rs963222879	p.Arg88Cys	missense variant	-	NC_000011.10:g.3823979C>T	TOPMed
rs1184521774	p.Phe89Leu	missense variant	-	NC_000011.10:g.3823984C>G	gnomAD
rs148038526	p.Ala92Thr	missense variant	-	NC_000011.10:g.3823991G>A	ESP,ExAC,TOPMed,gnomAD
rs1303011695	p.Phe93Ile	missense variant	-	NC_000011.10:g.3823994T>A	TOPMed
rs748507360	p.Ala94Val	missense variant	-	NC_000011.10:g.3823998C>T	ExAC,gnomAD
rs1467315949	p.Ala94Thr	missense variant	-	NC_000011.10:g.3823997G>A	TOPMed
rs772209725	p.Asn97Lys	missense variant	-	NC_000011.10:g.3824008C>A	ExAC,gnomAD
rs879255232	p.Tyr99Cys	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3824013A>G	UniProt,dbSNP
VAR_069665	p.Tyr99Cys	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3824013A>G	UniProt
rs879255232	p.Tyr99Cys	missense variant	-	NC_000011.10:g.3824013A>G	-
rs141753374	p.Leu100Phe	missense variant	-	NC_000011.10:g.3824015C>T	ESP,ExAC,TOPMed,gnomAD
rs587776970	p.Thr103Ile	missense variant	-	NC_000011.10:g.3824025C>T	ExAC,gnomAD
rs759393903	p.Pro105Leu	missense variant	-	NC_000011.10:g.3824031C>T	ExAC,gnomAD
rs548872160	p.Cys108Tyr	missense variant	-	NC_000011.10:g.3824040G>A	1000Genomes,ExAC,gnomAD
rs185342002	p.Tyr109Cys	missense variant	-	NC_000011.10:g.3824043A>G	1000Genomes,ESP,ExAC,gnomAD
rs1313853886	p.Arg110Cys	missense variant	-	NC_000011.10:g.3824045C>T	gnomAD
rs1213447790	p.Arg110His	missense variant	-	NC_000011.10:g.3824046G>A	gnomAD
rs751279371	p.Pro111Leu	missense variant	-	NC_000011.10:g.3824049C>T	ExAC,gnomAD
rs763765483	p.Pro111Ser	missense variant	-	NC_000011.10:g.3824048C>T	ExAC,gnomAD
rs1422966266	p.Leu112Phe	missense variant	-	NC_000011.10:g.3824051C>T	TOPMed
rs749871085	p.Leu112Pro	missense variant	-	NC_000011.10:g.3824052T>C	ExAC,gnomAD
rs755472726	p.Arg114Cys	missense variant	-	NC_000011.10:g.3824057C>T	ExAC,TOPMed,gnomAD
rs150583814	p.Arg114His	missense variant	-	NC_000011.10:g.3824058G>A	ESP,ExAC,gnomAD
rs755472726	p.Arg114Gly	missense variant	-	NC_000011.10:g.3824057C>G	ExAC,TOPMed,gnomAD
rs377757894	p.Asn116Ser	missense variant	-	NC_000011.10:g.3824064A>G	ESP,gnomAD
rs377757894	p.Asn116Ile	missense variant	-	NC_000011.10:g.3824064A>T	ESP,gnomAD
rs748585688	p.Phe117Leu	missense variant	-	NC_000011.10:g.3824066T>C	ExAC,gnomAD
rs201471637	p.Gly118Arg	missense variant	-	NC_000011.10:g.3824069G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201471637	p.Gly118Ser	missense variant	-	NC_000011.10:g.3824069G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780574277	p.Asn120Ser	missense variant	-	NC_000011.10:g.3824076A>G	TOPMed,gnomAD
rs146962851	p.Val121Ile	missense variant	-	NC_000011.10:g.3824078G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371241993	p.Val122Met	missense variant	-	NC_000011.10:g.3824081G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771209213	p.Glu123Lys	missense variant	-	NC_000011.10:g.3824084G>A	ExAC,gnomAD
rs1343214533	p.Asn124Lys	missense variant	-	NC_000011.10:g.3824089C>A	TOPMed,gnomAD
rs1274907993	p.Ala126Thr	missense variant	-	NC_000011.10:g.3824093G>A	gnomAD
rs375763335	p.Ala126Val	missense variant	-	NC_000011.10:g.3824094C>T	ESP,ExAC,TOPMed,gnomAD
rs879255233	p.Leu127Ser	missense variant	-	NC_000011.10:g.3824097T>C	-
rs879255233	p.Leu127Ser	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3824097T>C	UniProt,dbSNP
VAR_069666	p.Leu127Ser	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3824097T>C	UniProt
rs932942171	p.Val129Met	missense variant	-	NC_000011.10:g.3824102G>A	TOPMed
rs142694334	p.Thr131Ile	missense variant	-	NC_000011.10:g.3824109C>T	ExAC,TOPMed,gnomAD
rs1490238365	p.Ser135Pro	missense variant	-	NC_000011.10:g.3824120T>C	gnomAD
rs761460587	p.Glu137Asp	missense variant	-	NC_000011.10:g.3824128G>C	ExAC,gnomAD
COSM1146712	p.Glu137Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.3824126G>C	NCI-TCGA Cosmic
rs1469110249	p.Glu137Lys	missense variant	-	NC_000011.10:g.3824126G>A	gnomAD
NCI-TCGA novel	p.Ile141Val	missense variant	-	NC_000011.10:g.3824272A>G	NCI-TCGA
rs139509051	p.Glu143Lys	missense variant	-	NC_000011.10:g.3824278G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs544741456	p.Asn144Lys	missense variant	-	NC_000011.10:g.3824283T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1218148027	p.Asn144His	missense variant	-	NC_000011.10:g.3824281A>C	gnomAD
rs763583012	p.Val148Ala	missense variant	-	NC_000011.10:g.3824294T>C	ExAC,TOPMed,gnomAD
rs145152257	p.Ser153Tyr	missense variant	-	NC_000011.10:g.3824309C>A	ESP,ExAC,TOPMed,gnomAD
rs1064797152	p.Gly155Arg	missense variant	-	NC_000011.10:g.3824314G>A	TOPMed,gnomAD
RCV000488144	p.Gly155Arg	missense variant	-	NC_000011.10:g.3824314G>A	ClinVar
NCI-TCGA novel	p.His156Tyr	missense variant	-	NC_000011.10:g.3824317C>T	NCI-TCGA
rs781686732	p.His156Gln	missense variant	-	NC_000011.10:g.3824319C>G	ExAC,gnomAD
rs1303247220	p.Met157Val	missense variant	-	NC_000011.10:g.3824320A>G	TOPMed
rs527484411	p.Leu158Phe	missense variant	-	NC_000011.10:g.3824323C>T	1000Genomes
NCI-TCGA novel	p.Thr160LeuPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.3824328_3824329CA>-	NCI-TCGA
rs780188037	p.Thr160Ile	missense variant	-	NC_000011.10:g.3824330C>T	ExAC,TOPMed,gnomAD
rs1466667957	p.Leu163Ile	missense variant	-	NC_000011.10:g.3824338C>A	gnomAD
rs768605321	p.Arg165Gln	missense variant	-	NC_000011.10:g.3824345G>A	ExAC,TOPMed,gnomAD
rs144767060	p.Arg165Trp	missense variant	-	NC_000011.10:g.3824344C>T	ESP,ExAC,TOPMed,gnomAD
rs1335916374	p.Lys169Asn	missense variant	-	NC_000011.10:g.3824358G>T	gnomAD
rs1324968784	p.Gln174Arg	missense variant	-	NC_000011.10:g.3824372A>G	TOPMed,gnomAD
rs1466558742	p.Gln174Glu	missense variant	-	NC_000011.10:g.3824371C>G	TOPMed
RCV000428475	p.Arg177Cys	missense variant	-	NC_000011.10:g.3825023C>T	ClinVar
rs774843232	p.Arg177Leu	missense variant	-	NC_000011.10:g.3825024G>T	ExAC,gnomAD
rs774843232	p.Arg177His	missense variant	-	NC_000011.10:g.3825024G>A	ExAC,gnomAD
rs117338939	p.Arg177Cys	missense variant	-	NC_000011.10:g.3825023C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774843232	p.Arg177Pro	missense variant	-	NC_000011.10:g.3825024G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser179Ala	missense variant	-	NC_000011.10:g.3825029T>G	NCI-TCGA
NCI-TCGA novel	p.Ser179Phe	missense variant	-	NC_000011.10:g.3825030C>T	NCI-TCGA
NCI-TCGA novel	p.Ser181Arg	missense variant	-	NC_000011.10:g.3825035A>C	NCI-TCGA
rs148137953	p.Ser181Thr	missense variant	-	NC_000011.10:g.3825036G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp182Leu	missense variant	-	NC_000011.10:g.3825039G>T	NCI-TCGA
RCV000624517	p.Gln184Ter	frameshift	Inborn genetic diseases	NC_000011.10:g.3825043dup	ClinVar
NCI-TCGA novel	p.Gln184Glu	missense variant	-	NC_000011.10:g.3825044C>G	NCI-TCGA
rs543741663	p.Arg185Trp	missense variant	-	NC_000011.10:g.3825047C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs745521288	p.Arg185Gln	missense variant	-	NC_000011.10:g.3825048G>A	ExAC,gnomAD
rs775162032	p.Ile188Val	missense variant	-	NC_000011.10:g.3825056A>G	ExAC,TOPMed,gnomAD
rs768180527	p.Phe191Ser	missense variant	-	NC_000011.10:g.3825066T>C	ExAC,gnomAD
rs773639534	p.Phe194Ser	missense variant	-	NC_000011.10:g.3825075T>C	ExAC,TOPMed,gnomAD
rs761228495	p.Ser196Thr	missense variant	-	NC_000011.10:g.3825080T>A	ExAC,TOPMed,gnomAD
rs766716423	p.Ser196Leu	missense variant	-	NC_000011.10:g.3825081C>T	ExAC,TOPMed,gnomAD
rs1045801313	p.Ala197Val	missense variant	-	NC_000011.10:g.3825084C>T	TOPMed
rs1191139426	p.Ala199Thr	missense variant	-	NC_000011.10:g.3825089G>A	TOPMed
COSM1585762	p.Ala199Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.3825090C>A	NCI-TCGA Cosmic
rs1469181658	p.Ala199Gly	missense variant	-	NC_000011.10:g.3825090C>G	TOPMed
rs927721768	p.Val200Ala	missense variant	-	NC_000011.10:g.3825093T>C	TOPMed
rs1181024089	p.Val200Ile	missense variant	-	NC_000011.10:g.3825092G>A	gnomAD
rs759780867	p.Tyr201His	missense variant	-	NC_000011.10:g.3825095T>C	ExAC,gnomAD
rs752888891	p.Arg203Gln	missense variant	-	NC_000011.10:g.3825102G>A	ExAC,gnomAD
rs765407513	p.Arg203Trp	missense variant	-	NC_000011.10:g.3825101C>T	ExAC,TOPMed,gnomAD
rs762995369	p.Asn205Thr	missense variant	-	NC_000011.10:g.3825108A>C	ExAC,gnomAD
rs762995369	p.Asn205Ser	missense variant	-	NC_000011.10:g.3825108A>G	ExAC,gnomAD
rs1173487235	p.Met206Val	missense variant	-	NC_000011.10:g.3825110A>G	gnomAD
rs1404495392	p.Met206Thr	missense variant	-	NC_000011.10:g.3825111T>C	gnomAD
rs1465890582	p.Ala210Ser	missense variant	-	NC_000011.10:g.3825122G>T	TOPMed,gnomAD
rs751601204	p.Val212Ala	missense variant	-	NC_000011.10:g.3825328T>C	ExAC,gnomAD
rs1384204990	p.Thr214Ser	missense variant	-	NC_000011.10:g.3825333A>T	TOPMed
rs1488729576	p.Ala217Val	missense variant	-	NC_000011.10:g.3825343C>T	gnomAD
rs1218967500	p.Ile218Leu	missense variant	-	NC_000011.10:g.3825345A>C	gnomAD
rs1245054256	p.Leu219Pro	missense variant	-	NC_000011.10:g.3825349T>C	gnomAD
rs1477702737	p.Tyr221His	missense variant	-	NC_000011.10:g.3825354T>C	gnomAD
NCI-TCGA novel	p.Thr222Pro	missense variant	-	NC_000011.10:g.3825357A>C	NCI-TCGA
rs761678849	p.Val223Ile	missense variant	-	NC_000011.10:g.3825360G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val223Leu	missense variant	-	NC_000011.10:g.3825360G>C	NCI-TCGA
NCI-TCGA novel	p.Val223CysPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.3825358_3825359insT	NCI-TCGA
rs779980198	p.Met228Val	missense variant	-	NC_000011.10:g.3825375A>G	ExAC,gnomAD
RCV000622885	p.Ala229Val	missense variant	Inborn genetic diseases	NC_000011.10:g.3825379C>T	ClinVar
rs753497329	p.Ala229Val	missense variant	-	NC_000011.10:g.3825379C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met232Val	missense variant	-	NC_000011.10:g.3825387A>G	NCI-TCGA
rs747658866	p.Thr233Met	missense variant	-	NC_000011.10:g.3825391C>T	ExAC,TOPMed,gnomAD
rs374521929	p.Trp235Cys	missense variant	-	NC_000011.10:g.3825398G>C	ESP,ExAC,TOPMed,gnomAD
rs746363557	p.Trp236Ter	stop gained	-	NC_000011.10:g.3825400G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp237Gly	missense variant	-	NC_000011.10:g.3825403A>G	NCI-TCGA
NCI-TCGA novel	p.Asp237Asn	missense variant	-	NC_000011.10:g.3825402G>A	NCI-TCGA
NCI-TCGA novel	p.Asp237Ala	missense variant	-	NC_000011.10:g.3825403A>C	NCI-TCGA
NCI-TCGA novel	p.Phe238Ser	missense variant	-	NC_000011.10:g.3825406T>C	NCI-TCGA
rs1045751090	p.Phe238Tyr	missense variant	-	NC_000011.10:g.3825406T>A	TOPMed
rs763097908	p.Gly239Trp	missense variant	-	NC_000011.10:g.3825408G>T	ExAC,TOPMed,gnomAD
rs763097908	p.Gly239Arg	missense variant	-	NC_000011.10:g.3825408G>A	ExAC,TOPMed,gnomAD
rs768873816	p.Asn240Lys	missense variant	-	NC_000011.10:g.3825413C>A	ExAC,TOPMed,gnomAD
rs1192869508	p.Lys241Arg	missense variant	-	NC_000011.10:g.3825415A>G	gnomAD
rs1451129270	p.Leu243Val	missense variant	-	NC_000011.10:g.3825420C>G	gnomAD
rs758632618	p.Thr246Ser	missense variant	-	NC_000011.10:g.3825429A>T	gnomAD
rs1338504388	p.Ser247Pro	missense variant	-	NC_000011.10:g.3825432T>C	TOPMed
rs1178472216	p.Gln248His	missense variant	-	NC_000011.10:g.3825437G>T	gnomAD
rs761992792	p.Lys252Arg	missense variant	-	NC_000011.10:g.3825448A>G	ExAC,TOPMed,gnomAD
rs761992792	p.Lys252Met	missense variant	-	NC_000011.10:g.3825448A>T	ExAC,TOPMed,gnomAD
rs773338737	p.Arg253Gln	missense variant	-	NC_000011.10:g.3825451G>A	ExAC,TOPMed,gnomAD
rs773338737	p.Arg253Pro	missense variant	-	NC_000011.10:g.3825451G>C	ExAC,TOPMed,gnomAD
rs767681092	p.Arg253Ter	stop gained	-	NC_000011.10:g.3825450C>T	ExAC,TOPMed,gnomAD
rs753607239	p.Phe254Leu	missense variant	-	NC_000011.10:g.3825455C>G	ExAC,gnomAD
rs766278758	p.Phe254Leu	missense variant	-	NC_000011.10:g.3825453T>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0036857	Severe mental retardation (I.Q. 20-34)	disease	HPO
C0085681	Hyperphosphatemia (disorder)	disease	HPO
C0151849	Alkaline phosphatase raised	phenotype	HPO
C0282577	Congenital Disorders of Glycosylation	group	GENOMICS_ENGLAND
C0553706	High blood phosphate levels	phenotype	HPO
C0557874	Global developmental delay	disease	HPO
C1855923	Hyperphosphatasia with Mental Retardation	disease	BEFREE;ORPHANET
C1858120	Generalized hypotonia	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C3280153	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17	disease	CLINVAR;CTD_human;UNIPROT
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND
C4020875	Mental and motor retardation	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006506	GPI anchor biosynthetic process	ISS
GO:0006506	GPI anchor biosynthetic process	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000139	Golgi membrane	ISS
GO:0005789	endoplasmic reticulum membrane	ISS
GO:0005789	endoplasmic reticulum membrane	IBA
GO:0016021	integral component of membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of PGAP2 mRNA	22698814
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of PGAP2 mRNA	21346803
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of PGAP2 mRNA	22485181
C496492	abrine	abrine results in decreased expression of PGAP2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of PGAP2 mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of PGAP2 mRNA	28959563
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of PGAP2 mRNA	21757418
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PGAP2 mRNA	16483693
D001151	Arsenic	Arsenic affects the expression of PGAP2 mRNA	25304211
D001151	Arsenic	Arsenic affects the methylation of PGAP2 gene	25304211
C030935	benz(a)anthracene	benz(a)anthracene results in decreased expression of PGAP2 mRNA	26377693
C030935	benz(a)anthracene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of PGAP2 mRNA	27858113
D001564	Benzo(a)pyrene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of PGAP2 mRNA	27858113
C006703	benzo(b)fluoranthene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of PGAP2 mRNA	27858113
D001663	Bilirubin	Bilirubin results in decreased expression of PGAP2 mRNA	20196124
C002791	bismuth tripotassium dicitrate	bismuth tripotassium dicitrate results in decreased expression of PGAP2 mRNA	15912405
C006780	bisphenol A	bisphenol A affects the expression of PGAP2 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased methylation of PGAP2 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased methylation of PGAP2 promoter	30906313
C006780	bisphenol A	bisphenol A results in increased expression of PGAP2 mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of PGAP2 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of PGAP2 mRNA	25181051
C584509	C646 compound	C646 compound results in increased expression of PGAP2 mRNA	26191083
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of PGAP2 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of PGAP2 mRNA]	31150632
D002713	Chlorine	[Ozone co-treated with Chlorine] results in decreased expression of PGAP2 mRNA	18636392
C031180	chrysene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of PGAP2 mRNA	27858113
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of PGAP2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of PGAP2 mRNA	27392435
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of PGAP2 mRNA	19549813
D003840	Deoxycholic Acid	[gluconic acid co-treated with Deoxycholic Acid] results in increased expression of PGAP2 mRNA	16556975
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PGAP2 mRNA	21266533
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of PGAP2 mRNA	19850644
D004051	Diethylhexyl Phthalate	PPARA protein promotes the reaction [Diethylhexyl Phthalate results in increased expression of PGAP2 mRNA]	19850644
D004317	Doxorubicin	Doxorubicin results in decreased expression of PGAP2 mRNA	29803840
D004726	Endosulfan	Endosulfan results in increased expression of PGAP2 mRNA	29391264
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PGAP2 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PGAP2 mRNA	23129252
D018120	Finasteride	Finasteride results in increased expression of PGAP2 mRNA	24136188
C061365	flusilazole	flusilazole results in decreased expression of PGAP2 mRNA	22382673
C061365	flusilazole	flusilazole results in increased expression of PGAP2 mRNA	22382673
D005485	Flutamide	Flutamide results in increased expression of PGAP2 mRNA	24136188
C030691	gluconic acid	[gluconic acid co-treated with Deoxycholic Acid] results in increased expression of PGAP2 mRNA	16556975
D006418	Heme	Heme metabolite results in decreased expression of PGAP2 mRNA	19191707
C492448	ICG 001	ICG 001 results in increased expression of PGAP2 mRNA	26191083
C041508	indeno(1,2,3-cd)pyrene	indeno(1,2,3-cd)pyrene results in decreased expression of PGAP2 mRNA	26377693
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of PGAP2 mRNA	27392435
C544151	jinfukang	jinfukang results in increased expression of PGAP2 mRNA	27392435
C008493	methylselenic acid	methylselenic acid results in decreased expression of PGAP2 mRNA	18548127
D010126	Ozone	[Ozone co-treated with Chlorine] results in decreased expression of PGAP2 mRNA	18636392
D010269	Paraquat	Paraquat affects the expression of PGAP2 mRNA	15206577
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of PGAP2 mRNA	23892564
D010634	Phenobarbital	Phenobarbital affects the expression of PGAP2 mRNA	23091169
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of PGAP2 mRNA	15728792; 21061450;
C045950	propiconazole	propiconazole results in increased expression of PGAP2 mRNA	21278054
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of PGAP2 mRNA]	31150632
D012643	Selenium	[Selenium co-treated with Vitamin E] results in decreased expression of PGAP2 mRNA	19244175
D012643	Selenium	Selenium results in increased expression of PGAP2 mRNA	19244175
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of PGAP2 mRNA	25351596
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of PGAP2 mRNA	23221170
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of PGAP2 mRNA	21340527
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of PGAP2 mRNA	24383545
D012999	Soman	Soman results in increased expression of PGAP2 mRNA	19281266
D013467	Sulindac	Sulindac results in decreased expression of PGAP2 mRNA	24136188
D000077210	Sunitinib	Sunitinib results in increased expression of PGAP2 mRNA	31533062
D013629	Tamoxifen	Tamoxifen affects the expression of PGAP2 mRNA	17555576
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PGAP2 mRNA	19770486
D013849	Thimerosal	Thimerosal results in decreased expression of PGAP2 mRNA	27188386
C402769	tipifarnib	tipifarnib results in increased expression of PGAP2 mRNA	16403772
C009495	titanium dioxide	titanium dioxide results in increased expression of PGAP2 mRNA	29264374
D014212	Tretinoin	Tretinoin results in increased expression of PGAP2 mRNA	16249480
C012589	trichostatin A	trichostatin A results in increased expression of PGAP2 mRNA	15901671
D014635	Valproic Acid	Valproic Acid results in increased expression of PGAP2 mRNA	15901671
C025643	vinclozolin	vinclozolin results in decreased expression of PGAP2 mRNA	23034163
D014810	Vitamin E	[Selenium co-treated with Vitamin E] results in decreased expression of PGAP2 mRNA	19244175
D019287	Zinc Sulfate	Zinc Sulfate results in decreased expression of PGAP2 mRNA	12756304

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0225	Disease mutation
KW-0256	Endoplasmic reticulum
KW-0333	Golgi apparatus
KW-0337	GPI-anchor biosynthesis
KW-0472	Membrane
KW-0991	Mental retardation
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR019402	Frag1/DRAM/Sfk1
IPR039545	PGAP2

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF10277	Frag1

Gene: PGAP2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction