KMT2D (O14686) variants and mutations

KMT2D (also known as O14686) is a human protein-coding gene encoding a histone-lysine N-methyltransferase 2D protein. It deposits enhancer-associated H3K4 methylation and coordinates developmental gene expression through chromatin regulatory complexes. Heterozygous loss-of-function variants are a major cause of Kabuki syndrome, and somatic mutations are common in several lymphomas and solid tumors. This analysis covers 21,573 KMT2D variants and mutations. Of these, 35% have computational variant effect predictions. Disease context includes Kabuki syndrome, Kabuki syndrome 1, and choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome. Example KMT2D variants include M1T, D2E, and D2H.

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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable KMT2D variants

Examples include M1T, D2E, D2H, D2Y, S3G, S3I, S3N, S3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.