KMT2C (Q8NEZ4) variants and mutations

KMT2C (also known as Q8NEZ4) is a human protein-coding gene encoding a histone-lysine N-methyltransferase 2C protein. It helps establish enhancer-associated H3K4 methylation and thereby controls lineage-specific transcription together with other COMPASS-family proteins. Somatic loss-of-function alterations are frequent across cancers, while germline variants can cause neurodevelopmental phenotypes. This analysis covers 15,046 KMT2C variants and mutations. Of these, 36% have computational variant effect predictions. Disease context includes Kleefstra syndrome 2, prostate adenocarcinoma, and Intellectual disability. Example KMT2C variants include M1?, S2A, and S2L.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable KMT2C variants

Examples include M1?, S2A, S2L, S2P, S2W, S3*, S3A, S3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.