ATP6AP2
Chr XXLRATPase H+ transporting accessory protein 2
Also known as: (P)RR, APT6M8-9, ATP6IP2, ATP6M8-9, CDG2R, ELDF10, HT028, M8-9
This protein functions as a renin/prorenin cellular receptor and is essential for assembly of lysosomal V-type ATPases that acidify endo-lysosomal compartments and regulate protein degradation. Mutations cause X-linked recessive intellectual developmental disorder with syndromic features (Hedera type), congenital disorder of glycosylation type IIr, and potentially X-linked parkinsonism with spasticity. The gene is highly constrained against loss-of-function variants, reflecting its critical role in cellular function.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
410 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 | 0 | 1 | 68 | 1 | 70 |
Likely Pathogenic | 0 | 1 | 1 | 0 | 2 |
VUS | 0 | 107 | 25 | 1 | 133 |
Likely Benign | 0 | 2 | 46 | 47 | 95 |
Benign | 0 | 0 | 16 | 1 | 17 |
Conflicting | — | 7 | |||
| Total | 0 | 111 | 156 | 50 | 324 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ATP6AP2 · 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