CHD2
Chr 15ADchromodomain helicase DNA binding protein 2
Also known as: DEE94, EEOC
CHD2 encodes a chromatin remodeling protein that uses its helicase/ATPase domains to modify chromatin structure and regulate gene expression. Mutations cause developmental and epileptic encephalopathy 94, inherited in an autosomal dominant pattern. The gene is highly intolerant to loss-of-function variants, and mutations predominantly cause disease through haploinsufficiency.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
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
CHD2 · 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
External Resources
Links to major genomics databases and tools