ATP6V1B2
Chr 8ADATPase H+ transporting V1 subunit B2
Also known as: ATP6B1B2, ATP6B2, DOOD, HO57, VATB, VPP3, Vma2, ZLS2
ATP6V1B2 encodes a non-catalytic subunit of the V1 complex of vacuolar H+-ATPase, which acidifies intracellular compartments and, in some cells, the extracellular environment. Autosomal dominant mutations cause congenital deafness with onychodystrophy and Zimmermann-Laband syndrome 2. The gene is highly constrained against loss-of-function variants (pLI = 0.99), indicating that such variants are likely pathogenic.
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).
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.
Literature Evidence
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
ATP6V1B2 · 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