ARID4B
Chr 1AT-rich interaction domain 4B
Also known as: BCAA, BRCAA1, RBBP1L1, RBP1L1, SAP180
The protein functions as a transcriptional repressor and is a subunit of the histone deacetylase-dependent SIN3A transcriptional corepressor complex, regulating gene expression involved in cellular proliferation, differentiation, and apoptosis. Mutations cause autosomal dominant intellectual disability with developmental delay, and the gene is highly intolerant to loss-of-function variants. The condition affects neurodevelopment and may include additional features given the protein's broad role in transcriptional regulation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
ARID4B · 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