{"entity":{"id":"hnf1a","kind":"target","name":"HNF1A","aka":["HNF1 homeobox A","Hepatocyte nuclear factor 1-alpha","HNF1","LFB1","HNF1α","MODY3","TCF1"],"tldr":"HNF1A (Hepatocyte nuclear factor 1-alpha) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Renal cell carcinoma, Hepatocellular carcinoma, Skin cancer and 5 more.","summary":"Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Activates the transcription of CYP1A2, CYP2E1 and CYP3A11.\n\nOpen Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes affected pathway 0.38, literature 0.98, genetic association 0.86, somatic mutation 0.94, animal model 0.55). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Hepatocellular Carcinoma, Papillary Renal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11621","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11621"},{"label":"UniProt P20823","url":"https://www.uniprot.org/uniprotkb/P20823/entry"},{"label":"NCBI Gene 6927","url":"https://www.ncbi.nlm.nih.gov/gene/6927"},{"label":"Ensembl ENSG00000135100","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135100"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["rcc","hcc","skin-cancer","ovarian","colorectal","lung-cancer","papillary-rcc","melanoma"],"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: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" 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":"HNF1A","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11621","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11621","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P20823","url":"https://www.uniprot.org/uniprotkb/P20823/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135100","url":"https://platform.opentargets.org/target/ENSG00000135100/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.55, hepatocellular carcinoma 0.53, renal cell carcinoma 0.66, ovarian cancer 0.56, melanoma 0.56, skin cancer 0.58 (GraphQL API, CC0)"},{"label":"IntOGen HNF1A","url":"https://www.intogen.org/search?gene=HNF1A","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:11621","ensembl":"ENSG00000135100","uniprot":"P20823","entrez":"6927","biology":"Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Activates the transcription of CYP1A2, CYP2E1 and CYP3A11. Mechanistically, synergistically cooperates with NR5A2 to up-regulate the activity of one of the critical cis-elements in the hepatitis B virus genome enhancer II (ENII). Location: Nucleus (UniProt). Locus 12q24.31 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.66 with renal cell carcinoma (MONDO_0005086); IntOGen driver in 1 cohort (PRCC)","Hepatocellular carcinoma: Open Targets association 0.53 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 3 cohorts (HCC)","Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)","Ovarian cancer: Open Targets association 0.56 with ovarian cancer (MONDO_0008170)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/hnf1a/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"hcc","kind":"cancer","name":"Hepatocellular carcinoma","route":"/cancers/hcc/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"papillary-rcc","kind":"cancer","name":"Papillary renal cell carcinoma","route":"/cancers/papillary-rcc/"},{"id":"rcc","kind":"cancer","name":"Renal cell carcinoma","route":"/cancers/rcc/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}