AEBP2
Chr 12AE binding protein 2
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AEBP2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools