ATPase H+ transporting V0 subunit a2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalEhlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal+6 more panels — install the extension to see the full list inline on any page.
wrinkly skin syndrome
autosomal recessive cutis laxa type 2A
ALG9-congenital disorder of glycosylation
cutis laxa
autosomal recessive cutis laxa type 2, classic type
hereditary disease
hypothyroidism
Alzheimer disease
cancer
glioblastoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
V-type proton ATPase 116 kDa subunit a 2
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 (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Essential component of the endosomal pH-sensing machinery (PubMed:16415858). May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH (PubMed:18157129). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633)
ATP6V0A2 · Q9Y487
Mean pLDDT
81.6/ 100
Confident
856 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
