SUV39H2

Chr 10

SUV39H2 histone lysine methyltransferase

Also known as: KMT1B

NCBI Gene: 79723 ENSG00000152455 UniProt: Q9H5I1 OMIM: 606503

SUV39H2 encodes a histone methyltransferase that catalyzes trimethylation of histone H3 lysine 9 (H3K9me3), establishing constitutive heterochromatin at pericentric and telomeric regions and mediating epigenetic transcriptional repression. Mutations cause autosomal dominant intellectual disability with developmental delay and behavioral abnormalities. The gene is highly constrained against loss-of-function variants (pLI 0.93, LOEUF 0.36), indicating intolerance to protein disruption.

OMIM ResearchSummary from RefSeq, UniProt

Enables cation binding activity; histone H3K9 methyltransferase activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in epigenetic programming in the zygotic pronuclei. Acts upstream of or within cellular response to hypoxia and negative regulation of transcription by RNA polymerase II. Located in chromatin. Is active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.36

LOEUF

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Mechanism