ZCWPW2
Chr 3zinc finger CW-type and PWWP domain containing 2
Also known as: ZCW2
ZCWPW2 encodes a histone methylation reader protein that binds to methylated lysine-4 on histone H3, with highest affinity for trimethylated H3K4, and is active in the nucleus. Mutations cause autosomal recessive neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, with onset in infancy or early childhood. The gene is associated with severe developmental delay, seizures, and progressive spasticity affecting the central nervous system.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 15 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 62 | 7 | 0 | 70 |
Likely Benign | 0 | 3 | 1 | 0 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 65 | 24 | 0 | 90 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZCWPW2 · 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