ATP6V0A2
Chr 12ARATPase H+ transporting V0 subunit a2
Also known as: A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1
The ATP6V0A2 protein is a subunit of the V0 complex of vacuolar ATPase (V-ATPase), which acidifies intracellular compartments and maintains cellular pH homeostasis, with roles in endosomal pH sensing, Golgi function, and iron metabolism. Mutations cause autosomal recessive cutis laxa type IIA and wrinkly skin syndrome, connective tissue disorders affecting skin elasticity and structure. This gene is not highly constrained against loss-of-function variants (pLI near zero), consistent with autosomal recessive inheritance where heterozygous carriers are typically unaffected.
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
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 20 | 0 | 5 | 0 | 25 |
Likely Pathogenic | 20 | 1 | 4 | 0 | 25 |
VUS | 2 | 185 | 13 | 3 | 203 |
Likely Benign | 0 | 1 | 110 | 84 | 195 |
Benign | 0 | 0 | 32 | 0 | 32 |
Conflicting | — | 4 | |||
| Total | 42 | 187 | 164 | 87 | 484 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ATP6V0A2 · 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