{"entity":{"id":"cdkn2a","kind":"target","name":"CDKN2A","aka":["cyclin dependent kinase inhibitor 2A","Cyclin-dependent kinase inhibitor 2A","CDK4I","p16","INK4a","MTS1","CMM2","p19","p14","INK4","p16INK4a","p19Arf","p14ARF","P16-INK4A","CAI2","CDKN2"],"tldr":"CDKN2A (Cyclin-dependent kinase inhibitor 2A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Bladder & urothelial cancer and 5 more.","summary":"Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein.\n\nCIViC holds 59 clinical evidence items and 0 assertions across 27 variants, naming Palbociclib, Trametinib, Afatinib and Bevacizumab and others. Open Targets scores its association with cancer at 0.90 (direct and indirect evidence; datatypes genetic literature 0.61, affected pathway 0.90, literature 1.00, genetic association 0.90, somatic mutation 0.98, animal model 0.67). IntOGen calls it a driver in 70 cohorts (15 activating, 55 loss-of-function), covering Adenoid Cystic Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cholangiocarcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma and others. In OnCo, 1 product record names it (UroVysion Bladder Cancer Kit).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1787","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1787"},{"label":"UniProt P42771","url":"https://www.uniprot.org/uniprotkb/P42771/entry"},{"label":"NCBI Gene 1029","url":"https://www.ncbi.nlm.nih.gov/gene/1029"},{"label":"Ensembl ENSG00000147889","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147889"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","lung-cancer","urothelial","head-and-neck","non-hodgkin-lymphoma","esophageal","leukaemia","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":["urovysion"],"companies":[],"institutions":[],"pathways":["bladder-cancer-signalling","cell-cycle-engine-cdks","cml-signalling","glioma-signalling","hepatocellular-carcinoma-signalling","melanoma-signalling","nsclc-signalling","pancreatic-cancer-signalling","senescence"],"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: CIViC lists 18 therapies; IntOGen calls it an activating (Act) driver in 15 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 55 cohorts; CIViC holds 59 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Oropharynx Cancer; Supratentorial Ependymoma, ZFTA Fusion-positive; Ganglioglioma; Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDKN2A","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1787","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1787","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42771","url":"https://www.uniprot.org/uniprotkb/P42771/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDKN2A","url":"https://civicdb.org/features/14","note":"59 evidence items, 0 assertions, 27 variants; diseases: Head And Neck Squamous Cell Carcinoma, Lung Non-small Cell Carcinoma, Pancreatic Cancer, Melanoma, Cholangiocarcinoma and 20 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000147889","url":"https://platform.opentargets.org/target/ENSG00000147889/associations","note":"association with cancer (MONDO_0004992) 0.90; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.66, gastric cancer 0.58, oesophageal cancer 0.69, hepatocellular carcinoma 0.61, urinary bladder cancer 0.70, ovarian cancer 0.65 (GraphQL API, CC0)"},{"label":"IntOGen CDKN2A","url":"https://www.intogen.org/search?gene=CDKN2A","note":"driver in 70 cohorts (Act 15, LoF 55); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:1787","ensembl":"ENSG00000147889","uniprot":"P42771","entrez":"1029","biology":"Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein. Location: Cytoplasm; Nucleus (UniProt). Locus 9p21.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.80 with skin cancer (MONDO_0002898); IntOGen driver in 1 cohort (SKIN)","Lung cancer: Open Targets association 0.75 with lung cancer (MONDO_0008903)","Bladder & urothelial cancer: Open Targets association 0.70 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease","Head and neck squamous cell carcinoma: Open Targets association 0.70 with head and neck squamous cell carcinoma (MONDO_0010150); CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.69 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 1 cohort (MLYM)","Oesophageal cancer: Open Targets association 0.69 with oesophageal cancer (MONDO_0007576); CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/cdkn2a/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"head-and-neck","kind":"cancer","name":"Head and neck squamous cell carcinoma","route":"/cancers/head-and-neck/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"esophageal","kind":"cancer","name":"Oesophageal cancer","route":"/cancers/esophageal/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}],"drug":[{"id":"urovysion","kind":"drug","name":"UroVysion Bladder Cancer Kit","route":"/drugs/urovysion/"}],"pathway":[{"id":"bladder-cancer-signalling","kind":"pathway","name":"Bladder cancer (KEGG map)","route":"/pathways/bladder-cancer-signalling/"},{"id":"senescence","kind":"pathway","name":"Cellular senescence","route":"/pathways/senescence/"},{"id":"cml-signalling","kind":"pathway","name":"Chronic myeloid leukaemia (KEGG map)","route":"/pathways/cml-signalling/"},{"id":"glioma-signalling","kind":"pathway","name":"Glioma (KEGG map)","route":"/pathways/glioma-signalling/"},{"id":"hepatocellular-carcinoma-signalling","kind":"pathway","name":"Hepatocellular carcinoma (KEGG map)","route":"/pathways/hepatocellular-carcinoma-signalling/"},{"id":"melanoma-signalling","kind":"pathway","name":"Melanoma (KEGG map)","route":"/pathways/melanoma-signalling/"},{"id":"nsclc-signalling","kind":"pathway","name":"Non-small cell lung cancer (KEGG map)","route":"/pathways/nsclc-signalling/"},{"id":"pancreatic-cancer-signalling","kind":"pathway","name":"Pancreatic cancer (KEGG map)","route":"/pathways/pancreatic-cancer-signalling/"},{"id":"cell-cycle-engine-cdks","kind":"pathway","name":"The cell-cycle engine (cyclins & CDKs)","route":"/pathways/cell-cycle-engine-cdks/"}]}}