KMT2C
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.
Overview
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.
CIViC 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.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4).
- 3 · How drugs use it
No product in this corpus aims at KMT2C yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
External identifiers
Sources: HGNC HGNC:13726 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q8NEZ4 (protein name, function text, keywords and locations (REST API)); CIViC gene KMT2C (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)); Open Targets ENSG00000055609 (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)); IntOGen KMT2C (driver in 79 cohorts (Act 9, LoF 68); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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).
- 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)
Notes
top- 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.
Latest papers
topQuery for this target: (TITLE:"KMT2C" OR ABSTRACT:"KMT2C" OR TITLE:"lysine methyltransferase 2C" OR ABSTRACT:"lysine methyltransferase 2C" OR TITLE:"Histone-lysine N-methyltransferase 2C" OR ABSTRACT:"Histone-lysine N-methyltransferase 2C" OR TITLE:"KIAA1506" OR ABSTRACT:"KIAA1506" OR TITLE:"MLL3" OR ABSTRACT:"MLL3") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about KMT2C, not a curated reading list.
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