EHMT2

Chr 6

euchromatic histone lysine methyltransferase 2

Also known as: BAT8, C6orf30, G9A, GAT8, KMT1C, NG36

NCBI Gene: 10919 ENSG00000204371 UniProt: Q96KQ7

The encoded methyltransferase methylates lysine 9 of histone H3, leading to transcriptional repression through recruitment of additional epigenetic regulators. Mutations cause Kleefstra syndrome, an autosomal dominant intellectual disability disorder characterized by developmental delay, hypotonia, and distinctive facial features. The low pLI and LOEUF scores indicate this gene is highly intolerant to loss-of-function variants, consistent with haploinsufficiency as the primary disease mechanism.

ResearchSummary from RefSeq, UniProt

This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· G2P

Some data sources returned errors (2)

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