Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
V-type proton ATPase subunit d 2 (V-ATPase subunit d 2) (Vacuolar proton pump subunit d 2)
Protein function
Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying a
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)
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.
["Oxidative phosphorylation","Lysosome","Phagosome","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Tuberculosis","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to ATP6V0D2 (see Related Genes above), that are NOT already directly curated for ATP6V0D2 itself -- a lead worth checking, not a confirmed association.