{"entity":{"id":"kmt2c","kind":"target","name":"KMT2C","aka":["lysine methyltransferase 2C","Histone-lysine N-methyltransferase 2C","KIAA1506","MLL3"],"tldr":"KMT2C (Histone-lysine N-methyltransferase 2C) is a protein that switches other genes on and off. 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 Breast cancer, Prostate cancer, Bladder & urothelial cancer and 5 more.","summary":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place. Likely plays a redundant role with KMT2D in enriching H3K4me1 mark on primed and active enhancer elements.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 3 variants, naming Immune Checkpoint Inhibitor, Gefitinib, Olaparib and Afatinib and others. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, somatic mutation 0.99). IntOGen calls it a driver in 79 cohorts (9 activating, 68 loss-of-function), covering Adrenocortical Carcinoma, Adenoid Cystic Carcinoma, Acute Myeloid Leukaemia, Anal Squamous Cell Carcinoma, Basal Cell Carcinoma, Bladder Urothelial Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13726","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13726"},{"label":"UniProt Q8NEZ4","url":"https://www.uniprot.org/uniprotkb/Q8NEZ4/entry"},{"label":"NCBI Gene 58508","url":"https://www.ncbi.nlm.nih.gov/gene/58508"},{"label":"Ensembl ENSG00000055609","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000055609"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","prostate","urothelial","pancreatic","lung-cancer","colorectal","leukaemia","rcc"],"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: CIViC lists 6 therapies; IntOGen calls it an activating (Act) driver in 9 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 68 cohorts; CIViC holds 9 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: Skin Squamous Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KMT2C","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:13726","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13726","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NEZ4","url":"https://www.uniprot.org/uniprotkb/Q8NEZ4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KMT2C","url":"https://civicdb.org/features/14089","note":"9 evidence items, 0 assertions, 3 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma, Bladder Carcinoma, Breast Cancer, Diffuse Large B-cell Lymphoma and 3 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000055609","url":"https://platform.opentargets.org/target/ENSG00000055609/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.56, colorectal cancer 0.63, gastric cancer 0.54, prostate cancer 0.65, urinary bladder cancer 0.63, renal cell carcinoma 0.53 (GraphQL API, CC0)"},{"label":"IntOGen KMT2C","url":"https://www.intogen.org/search?gene=KMT2C","note":"driver in 79 cohorts (Act 9, LoF 68); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:13726","ensembl":"ENSG00000055609","uniprot":"Q8NEZ4","entrez":"58508","biology":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place. Likely plays a redundant role with KMT2D in enriching H3K4me1 mark on primed and active enhancer elements. Location: Nucleus (UniProt). Locus 7q36.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.72 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Prostate cancer: Open Targets association 0.65 with prostate cancer (MONDO_0008315); IntOGen driver in 10 cohorts (PRAD, PROSTATE)","Bladder & urothelial cancer: Open Targets association 0.63 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: IntOGen driver in 6 cohorts (PAAD, PANCREAS)","Lung cancer: Open Targets association 0.65 with lung cancer (MONDO_0008903)","Colorectal cancer: Open Targets association 0.63 with colorectal cancer (MONDO_0005575); IntOGen driver in 4 cohorts (COAD, COADREAD)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/kmt2c/","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":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"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":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"},{"id":"rcc","kind":"cancer","name":"Renal cell carcinoma","route":"/cancers/rcc/"}]}}