AEBP2

Chr 12

AE binding protein 2

NCBI Gene: 121536 ENSG00000139154 UniProt: Q6ZN18 OMIM: 617934

AEBP2 encodes an accessory subunit of the Polycomb repressive complex 2 (PRC2) that mediates histone H3K27 trimethylation and plays a role in nucleosome localization of the PRC2 complex for transcriptional repression. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and dysmorphic features, typically with onset in early childhood. This gene shows autosomal dominant inheritance and is highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable DNA binding activity; transcription coregulator activity; and zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of DNA-templated transcription. Located in nucleoplasm. Part of ESC/E(Z) complex. [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

0.14

LOEUF· LoF intol.

LOF

Mechanism· predicted