HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATPAF2
ATP synthase mitochondrial F1 complex assembly factor 2
Chromosome 17 Β· 17p11.2
NCBI Gene: 91647Ensembl: ENSG00000171953.16HGNC: HGNC:18802UniProt: Q8N5M1
45PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial inner membraneprotein folding chaperonenuclear speckmitochondrial proton-transporting ATP synthase complex assemblyIsolated ATP synthase deficiencymitochondrial complex V (ATP synthase) deficiency, nuclear type 1mitochondrial diseasesquamous cell carcinoma
✦AI Summary

ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2) is a nuclear-encoded mitochondrial chaperone protein essential for assembling the F1 sector of the F1Fo-ATP synthase complex 1. As the mammalian homolog of yeast Atp12p, ATPAF2 facilitates the assembly of alpha and beta subunits into functional ATP synthase 2. Unlike the constitutively expressed ATPAF1, ATPAF2 shows tissue-specific expression patterns, with particularly high levels in brown adipose tissue, correlating with F1-ATP synthase subunit expression across tissues 2. ATPA2 deficiency results in severe mitochondrial dysfunction. Atpaf2-knockout mice are embryonically lethal, contrasting with viable but compromised Atpaf1-deficient mice 1. Loss of ATPAF2 leads to decreased F1 content and ATP synthase dimers, accompanied by ultrastructural mitochondrial abnormalities including cristae loss and impaired oxidative phosphorylation capacity 1. ATPAF2 mutations cause mitochondrial complex V deficiency, presenting as early-onset encephalocardiomyopathies with neonatal lactic acidosis, 3-methylglutaconic aciduria, and multi-organ failure [PMID:24564666; 38]. Recent structural studies reveal ATPAF2 forms functionally relevant protein-protein interactions with other assembly factors 4. Additionally, ATPAF2 loss acts as a genetic sensitizer to pro-apoptotic mitochondrial stress 5.

Sources cited
1
ATPAF2 is required for F1 ATP synthase assembly; Atpaf2-KO mice are embryonically lethal; ATPAF1 deficiency causes decreased F1 content, ATP synthase dimers, and impaired mitochondrial respiration in cardiac tissue
PMID: 34375736
2
ATPAF2 is a mammalian homolog of yeast Atp12p and assembles F1-alpha and F1-beta subunits; ATPAF2 shows tissue-specific expression correlating with F1-ATP synthase subunit levels, with highest expression in brown adipose tissue
PMID: 12965202
3
ATPAF2 mutations are associated with isolated ATP synthase deficiency; ATPAF2 is one of four nuclear genes with mutations causing complex V deficiency
PMID: 24564666
4
ATPAF2 mutations cause mitochondrial complex V deficiency presenting with neonatal onset, severe brain damage, lactic acidosis, and 3-methylglutaconic aciduria
PMID: 23866288
5
ATPAF2 forms protein-protein interactions with FMC1 based on coevolution and structural modeling analysis
PMID: 35881696
6
Loss of ATPAF2 acts as a genetic sensitizer to pro-apoptotic protein tBID's effects on mitochondria
PMID: 38413804
Disease Associationsβ“˜21
Isolated ATP synthase deficiencyOpen Targets
0.71Strong
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1Open Targets
0.66Moderate
mitochondrial diseaseOpen Targets
0.50Moderate
squamous cell carcinomaOpen Targets
0.26Weak
schizophreniaOpen Targets
0.14Weak
microcephalyOpen Targets
0.11Weak
myocardial infarctionOpen Targets
0.07Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.05Suggestive
cleft palateOpen Targets
0.04Suggestive
osteomesopyknosisOpen Targets
0.03Suggestive
brachyolmia-amelogenesis imperfecta syndromeOpen Targets
0.03Suggestive
hemifacial hypertrophyOpen Targets
0.03Suggestive
Prata-Liberal-Goncalves syndromeOpen Targets
0.03Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.03Suggestive
smoking initiationOpen Targets
0.02Suggestive
dementiaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
mental or behavioural disorderOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.00Suggestive
Mitochondrial complex V deficiency, nuclear type 1UniProt
Pathogenic Variants1
NM_145691.4(ATPAF2):c.98del (p.Ile33fs)Likely pathogenic
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
β˜…β˜†β˜†β˜†2018β†’ Residue 33
View on ClinVar β†—
Related Genes
ATP5F1CProtein interaction100%ATP5F1AProtein interaction98%ATP5F1BProtein interaction98%ATP8Protein interaction98%TMEM70Protein interaction96%FMC1Protein interaction70%
Tissue Expression6 tissues
Heart
100%
Liver
100%
Bone Marrow
94%
Lung
57%
Ovary
52%
Brain
50%
Gene Interaction Network
Click a node to explore
ATPAF2ATP5F1CATP5F1AATP5F1BATP8TMEM70FMC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N5M1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.61–1.10]
RankingsWhere ATPAF2 stands among ~20K protein-coding genes
  • #9,415of 20,598
    Most Researched45
  • #5,129of 5,498
    Most Pathogenic Variants1
  • #11,229of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedATPAF2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ATPAF1 deficiency impairs ATP synthase assembly and mitochondrial respiration.
PMID: 34375736
Mitochondrion Β· 2021
1.00
2
The complexity in DNA methylation analysis of allergic diseases.
PMID: 36752374
Curr Opin Allergy Clin Immunol Β· 2023
0.90
3
Nuclear genetic defects of mitochondrial ATP synthase.
PMID: 24564666
Physiol Res Β· 2014
0.80
4
PMF-seq: a highly scalable screening strategy for linking genetics to mitochondrial bioenergetics.
PMID: 38413804
Nat Metab Β· 2024
0.70
5
Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase assembly proteins in mouse tissues.
PMID: 12965202
FEBS Lett Β· 2003
0.60