EPC2

Chr 2

enhancer of polycomb 2

Also known as: EPC-LIKE

NCBI Gene: 26122 ENSG00000135999 UniProt: Q52LR7 OMIM: 611000

The EPC2 protein is part of the NuA4 histone acetyltransferase complex and regulates DNA double-strand break repair via homologous recombination and cell cycle progression. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.16), indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable protein-macromolecule adaptor activity. Involved in positive regulation of double-strand break repair via homologous recombination and regulation of cell cycle. Predicted to be located in nucleus. Predicted to be part of NuA4 histone acetyltransferase complex and piccolo histone acetyltransferase complex. [provided by Alliance of Genome Resources, Jun 2026]

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

0.16

LOEUF· LoF intol.

LOF

Mechanism· predicted