H2BW1
Chr XH2B.W histone 1
Also known as: H2BFWT, TH2B-175
H2BW1 encodes an atypical histone H2B protein that forms nucleosomes and compacts DNA into chromatin but uniquely does not participate in mitotic chromosome assembly and may have specialized roles in telomere function and spermatogenesis. This gene is not highly constrained against loss-of-function variants and polymorphisms have been associated with male infertility rather than neurological disease. Based on available data, pathogenic variants in H2BW1 have not been established as a cause of pediatric neurological disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
H2BW1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools