Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
ATP synthase F(0) complex subunit k, mitochondrial (ATP synthase membrane subunit DAPIT, mitochondrial) (Diabetes-associated protein in insulin-sensitive tissues) (HCV F-transactivated protein 2) (Up-regulated during skeletal muscle growth protein 5)
Protein function
Subunit k, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the resp
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name
Clinical Significance
dbSNP ID
RCV Accession
Evidence Score
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Diseases Linked via Similar GenesDiseases curated for genes most similar to ATP5MK (see Related Genes above), that are NOT already directly curated for ATP5MK itself -- a lead worth checking, not a confirmed association.