protein
Histone-lysine N-methyltransferase 2C
aka Lysine N-methyltransferase 2C
Gene
KMT2C
Organism
Homo sapiens(9606)
Length
4911 aa
Mass
541,370 Da
KMT2C (Histone-lysine N-methyltransferase 2C) is a chromatin-modifying enzyme that catalyzes histone H3 lysine-4 methylation, predominantly generating H3K4me1 marks at active chromatin sites involved in transcription and DNA repair (UniProt: Q8NEZ4). The protein functions as part of chromatin remodeling machinery and likely operates redundantly with KMT2D in marking primed and active enhancer elements.
KMT2C is implicated in Kleefstra syndrome 2 (KLEFS2), an autosomal dominant disorder characterized by intellectual disability, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. This condition reflects the essential role of proper histone methylation in normal neurodevelopment and cognitive function.
KMT2C is classified as SFARI Category 1 with syndromic autism association (SFARI Cat 1), indicating high confidence as an autism risk gene within the context of developmental delay and neurodevelopmental syndromes.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:22266653, PubMed:24081332, PubMed:25561738). Likely plays a redundant role with KMT2D in enriching H3K4me1 mark on primed and active enhancer elements (PubMed:24081332)
Disease associations
Kleefstra syndrome 2KLEFS2
A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable intellectual disability, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms.
Sources
Last updated 5/6/2026, 5:25:30 AM