PHC2
Chr 1polyhomeotic homolog 2
PHC2 encodes a component of the Polycomb repressive complex 1 (PRC1) that maintains transcriptional silencing of developmental genes, including Hox genes, through chromatin remodeling and histone H2A monoubiquitination. Mutations in PHC2 cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. The gene shows significant constraint against loss-of-function variants (LOEUF 0.387), indicating that such mutations are likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
PHC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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