H2AB3
Chr XH2A.B variant histone 3
Also known as: H2A.B.1, H2A.Bbd, H2ABBD, H2AFB, H2AFB3
H2AB3 encodes an atypical histone H2A protein that replaces conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing, forming less rigid nucleosomes that are enriched in actively transcribed genes and required for mRNA splicing. Currently, no well-established human diseases have been definitively linked to H2AB3 mutations in the medical literature. The gene is located on chromosome X as part of a repeated region.
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
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
H2AB3 · 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 →No open access results found
External Resources
Links to major genomics databases and tools