{"entity":{"id":"pnpla3","kind":"target","name":"PNPLA3","aka":["patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase ","1-acylglycerol-3-phosphate O-acyltransferase PNPLA3","dJ796I17.1","FLJ22012","adiponutrin","iPLA2epsilon","C22orf20"],"tldr":"PNPLA3 (1-acylglycerol-3-phosphate O-acyltransferase PNPLA3) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Hepatocellular carcinoma.","summary":"Specifically catalyses coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18590","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18590"},{"label":"UniProt Q9NST1","url":"https://www.uniprot.org/uniprotkb/Q9NST1/entry"},{"label":"NCBI Gene 80339","url":"https://www.ncbi.nlm.nih.gov/gene/80339"},{"label":"Ensembl ENSG00000100344","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100344"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PNPLA3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:18590","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18590","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NST1","url":"https://www.uniprot.org/uniprotkb/Q9NST1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100344","url":"https://platform.opentargets.org/target/ENSG00000100344/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: hepatocellular carcinoma 0.52 (GraphQL API, CC0)"}],"hgnc":"HGNC:18590","ensembl":"ENSG00000100344","uniprot":"Q9NST1","entrez":"80339","biology":"Specifically catalyses coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA. Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase activities and thus may play a role in acyl-chain remodeling of triglycerides. In vitro may express hydrolytic activity against glycerolipids triacylglycerol, diacylglycerol and monoacylglycerol, with a strong preference for oleic acid as the acyl moiety. However, the triacylglycerol hydrolase activity is controversial and may be very low. Location: Membrane; Lipid droplet (UniProt). Locus 22q13.31 (HGNC).","whereFound":["Hepatocellular carcinoma: Open Targets association 0.52 with hepatocellular carcinoma (MONDO_0007256)"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/pnpla3/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"hcc","kind":"cancer","name":"Hepatocellular carcinoma","route":"/cancers/hcc/"}]}}