ATPAF2
Chr 17ARATP synthase mitochondrial F1 complex assembly factor 2
Also known as: ATP12, ATP12p, LP3663, MC5DN1
This protein functions as an assembly factor for the F1 component of mitochondrial ATP synthase, binding specifically to the F1 alpha subunit to prevent formation of nonproductive complexes during enzyme assembly. Mutations cause mitochondrial complex V (ATP synthase) deficiency with autosomal recessive inheritance. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with recessive disease requiring biallelic mutations.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
386 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 | 0 | 116 | 0 | 116 |
Likely Pathogenic | 3 | 0 | 0 | 0 | 3 |
VUS | 7 | 118 | 27 | 3 | 155 |
Likely Benign | 0 | 6 | 37 | 30 | 73 |
Benign | 0 | 1 | 16 | 1 | 18 |
Conflicting | — | 13 | |||
| Total | 10 | 125 | 196 | 34 | 378 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ATPAF2 · 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