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mutLBSgeneDB |
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| Gene summary for ENPP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | ENPP2 |
| Gene name | ectonucleotide pyrophosphatase/phosphodiesterase 2 | |
| Synonyms | ATX|ATX-X|AUTOTAXIN|LysoPLD|NPP2|PD-IALPHA|PDNP2 | |
| Cytomap | UCSC genome browser: 8q24.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001040092.2, NM_001130863.2,NM_006209.4,NR_045555.1, | |
| Description | E-NPP 2autotaxin-tectonucleotide pyrophosphatase/phosphodiesterase family member 2extracellular lysophospholipase Dphosphodiesterase I/nucleotide pyrophosphatase 2plasma lysophospholipase D | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 601060 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000136960 | ||
| HPRD : 03037 | ||
| Vega : OTTHUMG00000164995 | ||
| Protein | UniProt: Q13822 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ENPP2 | |
| BioGPS: 5168 | ||
| Pathway | NCI Pathway Interaction Database: ENPP2 | |
| KEGG: ENPP2 | ||
| REACTOME: ENPP2 | ||
| Pathway Commons: ENPP2 | ||
| Context | iHOP: ENPP2 | |
| ligand binding site mutation search in PubMed: ENPP2 | ||
| UCL Cancer Institute: ENPP2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0009395 | phospholipid catabolic process | 15280042 | GO:0030334 | regulation of cell migration | 1733949 | GO:0034638 | phosphatidylcholine catabolic process | 21240271 |
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| Ligand binding site mutations for ENPP2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R440 | E442Q | BLCA | 1 | I168,S170 | F169L | COAD | 1 | L79 | C80W | COAD | 1 | W255 | G256R | GBM | 1 | M513 | C514S | HNSC | 1 | I168 | I168M | HNSC | 1 | D359 | G358R | KICH | 1 | F242,L244 | H243R | LUSC | 1 | D359 | D359N | LUSC | 1 | A305 | V303G | STAD | 1 | V278 | V279G | STAD | 1 | D312 | F313L | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for ENPP2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | A305 | V303G | -1.5953214 | I168 | I168M | -1.2278067 | S170 | F169L | -1.2272752 | I168 | F169L | -1.2272752 | R440 | E442Q | -1.1217395 | D359 | D359N | -1.0750579 | D312 | F313L | -0.99154337 | L79 | C80W | -0.96522005 | V278 | V279G | -0.93701192 | M513 | C514S | -0.78805721 | W255 | G256R | -0.12069013 | L244 | H243R | -0.096958313 | F242 | H243R | -0.096958313 | D359 | G358R | -0.09408512 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for ENPP2 from PDB |
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| Differential gene expression and gene-gene network for ENPP2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for ENPP2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023893 | Liver Cirrhosis, Experimental | 3 | Biomarker, Therapeutic |
| umls:C0019158 | Hepatitis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ENPP2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ENPP2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4zg6 | A | D312 | ZN | ZINC(2+) | 4zg6 | B | D312 | ZN | ZINC(2+) | 4zg7 | A | D312 | ZN | ZINC(2+) | 4zg9 | A | D312 | ZN | ZINC(2+) | 4zg9 | B | D312 | ZN | ZINC(2+) | 4zga | A | D312 | ZN | ZINC(2+) | 4zg6 | A | D359 | ZN | ZINC(2+) | 4zg6 | B | D359 | ZN | ZINC(2+) | 4zg7 | A | D359 | ZN | ZINC(2+) | 4zg9 | A | D359 | ZN | ZINC(2+) | 4zg9 | B | D359 | 4O2 | 3-[(11AS)-6-(4-FLUOROBENZYL)-1,3-DIOXO-5,6,11,11A- TETRAHYDRO-1H-IMIDAZO[1',5':1,6]PYRIDO[3,4-B]INDOL- 2(3H)-YL]PROPANOIC ACID | 4zg9 | A | F242 W255 R440 | 4O2 | 3-[(11AS)-6-(4-FLUOROBENZYL)-1,3-DIOXO-5,6,11,11A- TETRAHYDRO-1H-IMIDAZO[1',5':1,6]PYRIDO[3,4-B]INDOL- 2(3H)-YL]PROPANOIC ACID | 4zg9 | B | F242 W255 R440 | NKN | 1-MYRISTOYL-SN-GLYCEROL 3-PHOSPHATE | 4zg7 | A | I168 D312 M513 | 4NY | 4-{(Z)-2-[6-CHLORO-1-(4-FLUOROBENZYL)-1H-INDOL-3-YL]-1- CYANOETHENYL}BENZOIC ACID | 4zg6 | B | I168 S170 L244 A305 D359 | 4O2 | 3-[(11AS)-6-(4-FLUOROBENZYL)-1,3-DIOXO-5,6,11,11A- TETRAHYDRO-1H-IMIDAZO[1',5':1,6]PYRIDO[3,4-B]INDOL- 2(3H)-YL]PROPANOIC ACID | 4zg9 | A | I168 S170 V278 | 4O0 | 3-({6-CHLORO-7-FLUORO-2-METHYL-1-[2-OXO-2- (SPIRO[CYCLOPROPANE-1,3'-INDOL]-1'(2'H)-YL)ETHYL]-1H- INDOL-3-YL}SULFANYL)-2-FLUOROBENZOIC ACID | 4zg7 | A | L79 W255 V278 | 4NY | 4-{(Z)-2-[6-CHLORO-1-(4-FLUOROBENZYL)-1H-INDOL-3-YL]-1- CYANOETHENYL}BENZOIC ACID | 4zg6 | A | S170 A305 D359 | 4O2 | 3-[(11AS)-6-(4-FLUOROBENZYL)-1,3-DIOXO-5,6,11,11A- TETRAHYDRO-1H-IMIDAZO[1',5':1,6]PYRIDO[3,4-B]INDOL- 2(3H)-YL]PROPANOIC ACID | 4zg9 | B | S170 V278 | ACD | ARACHIDONIC ACID | 4zga | A | W255 | 4O3 | (11AS)-6-(4-FLUOROBENZYL)-5,6,11,11A-TETRAHYDRO-1H- IMIDAZO[1',5':1,6]PYRIDO[3,4-B]INDOLE-1,3(2H)-DIONE | 4zga | A | W255 |
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| Conservation information for LBS of ENPP2 |
| Multiple alignments for Q13822 in multiple species |
| LBS | AA sequence | # species | Species | A218 | NLYTLATGLYP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | A305 | RPSVYAFYSEQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D172 | IIFSVDGFRAS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D235 | GNSMYDPVFDA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D312 | YSEQPDFSGHK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D359 | VIFVGDHGMED | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D673 | LAYKNDKQMSY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D740 | SGPIFDYDYDG | 2 | Homo sapiens, Bos taurus | D740 | SGPIFDYNYNG | 1 | Mus musculus | D740 | SGPIFDYNYDG | 1 | Rattus norvegicus | D742 | PIFDYDYDGLH | 2 | Homo sapiens, Bos taurus | D742 | PIFDYNYNGLR | 1 | Mus musculus | D742 | PIFDYNYDGLR | 1 | Rattus norvegicus | D744 | FDYDYDGLHDT | 2 | Homo sapiens, Bos taurus | D744 | FDYNYNGLRDI | 1 | Mus musculus | D744 | FDYNYDGLRDT | 1 | Rattus norvegicus | D748 | YDGLHDTEDKI | 1 | Homo sapiens | D748 | YDGLHDTQDKI | 1 | Bos taurus | D748 | YNGLRDIEDEI | 1 | Mus musculus | D748 | YDGLRDTEDEI | 1 | Rattus norvegicus | F211 | YPTKTFPNLYT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F242 | VFDATFHLRGR | 2 | Homo sapiens, Mus musculus | F242 | VFDAHFNLRGR | 1 | Bos taurus | F242 | VFDASFHLRGR | 1 | Rattus norvegicus | F250 | RGREKFNHRWW | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F274 | VRAGTFFWSVS | 2 | Mus musculus, Rattus norvegicus | F274 | VKAGTFFWSVV | 1 | Homo sapiens | F274 | VIAGTFFWPVV | 1 | Bos taurus | F275 | RAGTFFWSVSI | 2 | Mus musculus, Rattus norvegicus | F275 | KAGTFFWSVVI | 1 | Homo sapiens | F275 | IAGTFFWPVVI | 1 | Bos taurus | H252 | REKFNHRWWGG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H316 | PDFSGHKYGPF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H360 | IFVGDHGMEDV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H475 | FFQGDHGFDNK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H747 | DYDGLHDTEDK | 1 | Homo sapiens | H747 | DYDGLHDTQDK | 1 | Bos taurus | H747 | NYNGLRDIEDE | 1 | Mus musculus | H747 | NYDGLRDTEDE | 1 | Rattus norvegicus | I168 | RPPLIIFSVDG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K209 | PVYPTKTFPNL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K249 | LRGREKFNHRW | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L214 | KTFPNLYTLAT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L217 | PNLYTLATGLY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L244 | DATFHLRGREK | 2 | Homo sapiens, Mus musculus | L244 | DAHFNLRGREK | 1 | Bos taurus | L244 | DASFHLRGREK | 1 | Rattus norvegicus | L746 | YDYDGLHDTED | 1 | Homo sapiens | L746 | YDYDGLHDTQD | 1 | Bos taurus | L746 | YNYNGLRDIED | 1 | Mus musculus | L746 | YNYDGLRDTED | 1 | Rattus norvegicus | L79 | CRCDNLCKSYS | 3 | Bos taurus, Mus musculus, Rattus norvegicus | L79 | CRCDNLCKSYT | 1 | Homo sapiens | M513 | ELYNVMCDLLG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | M676 | KNDKQMSYGFL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N231 | HGIVGNSMYDP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R285 | IPHERRILTIL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R440 | YANNRRIEDIH | 2 | Homo sapiens, Rattus norvegicus | R440 | YANNRRIEDVH | 1 | Bos taurus | R440 | YANNRRIEDLH | 1 | Mus musculus | S170 | PLIIFSVDGFR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S277 | GTFFWSVSIPH | 2 | Mus musculus, Rattus norvegicus | S277 | GTFFWSVVIPH | 1 | Homo sapiens | S277 | GTFFWPVVIPH | 1 | Bos taurus | S82 | DNLCKSYSSCC | 3 | Bos taurus, Mus musculus, Rattus norvegicus | S82 | DNLCKSYTSCC | 1 | Homo sapiens | T210 | VYPTKTFPNLY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V278 | TFFWSVSIPHE | 2 | Mus musculus, Rattus norvegicus | V278 | TFFWSVVIPHE | 1 | Homo sapiens | V278 | TFFWPVVIPHE | 1 | Bos taurus | W254 | KFNHRWWGGQP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W255 | FNHRWWGGQPL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W261 | GGQPLWITATK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W276 | AGTFFWSVSIP | 2 | Mus musculus, Rattus norvegicus | W276 | AGTFFWSVVIP | 1 | Homo sapiens | W276 | AGTFFWPVVIP | 1 | Bos taurus | Y215 | TFPNLYTLATG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y307 | SVYAFYSEQPD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y670 | QNCLAYKNDKQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y670 | QSCLAYKNDKQ | 1 | Bos taurus |
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