{"entity":{"id":"kmt2b","kind":"target","name":"KMT2B","aka":["lysine methyltransferase 2B","Histone-lysine N-methyltransferase 2B","KIAA0304","MLL2","TRX2","HRX2","WBP7","MLL1B","MLL4","CXXC10"],"tldr":"KMT2B (Histone-lysine N-methyltransferase 2B) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma, Vulvar cancer, Melanoma and 1 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) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place. Likely plays a redundant role with KMT2C in enriching H3K4me1 marks on primed and active enhancer elements.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Immune Checkpoint Inhibitor. IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Hepatocellular Carcinoma, Vulva/Vagina.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15840","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15840"},{"label":"UniProt Q9UMN6","url":"https://www.uniprot.org/uniprotkb/Q9UMN6/entry"},{"label":"NCBI Gene 9757","url":"https://www.ncbi.nlm.nih.gov/gene/9757"},{"label":"Ensembl ENSG00000272333","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000272333"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["hcc","vulvar","melanoma","nsclc"],"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 1 therapies; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 2 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."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KMT2B","role":["drug-target","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:15840","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15840","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UMN6","url":"https://www.uniprot.org/uniprotkb/Q9UMN6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KMT2B","url":"https://civicdb.org/features/7725","note":"2 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen KMT2B","url":"https://www.intogen.org/search?gene=KMT2B","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:15840","ensembl":"ENSG00000272333","uniprot":"Q9UMN6","entrez":"9757","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) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place. Likely plays a redundant role with KMT2C in enriching H3K4me1 marks on primed and active enhancer elements. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation. Location: Nucleus (UniProt). Locus 19q13.12 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Vulvar cancer: IntOGen driver in 1 cohort (VULVA)","Melanoma: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/kmt2b/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"hcc","kind":"cancer","name":"Hepatocellular carcinoma","route":"/cancers/hcc/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"vulvar","kind":"cancer","name":"Vulvar cancer","route":"/cancers/vulvar/"}]}}