ATP6V1B1
Chr 2ARATPase H+ transporting V1 subunit B1
Also known as: ATP6B1, DRTA2, RTA1B, VATB, VMA2, VPP3
This gene encodes the B1 subunit of vacuolar H+-ATPase, a multisubunit enzyme that acidifies intracellular compartments and, in renal intercalated cells, secretes protons into urine for urinary acidification. Mutations cause autosomal recessive distal renal tubular acidosis with sensorineural hearing loss, a condition affecting kidney function and hearing. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATP6V1B1 · 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