H2AB2
Chr XH2A.B variant histone 2
Also known as: H2A.B.1, H2A.Bbd, H2AFB2
H2AB2 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. Mutations in H2AB2 cause neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures with autosomal dominant inheritance. This condition typically presents in early childhood with developmental regression and involves the central nervous system.
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
H2AB2 · 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
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External Resources
Links to major genomics databases and tools