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Gene information for ATP6V0A2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID23545
Official gene symbolATP6V0A2
Full nameATPase, H+ transporting, lysosomal V0 subunit a2
Aliases,A2,ARCL,ATP6A2,ATP6N1D,J6B7,RTF,STV1,TJ6,TJ6M,TJ6S,VPH1,WSS,
Gene summaryThe protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq]
LocationChromosome: 12   Locus: 12q24.31
Gene position124196865 - 124246302  Map Viewer
Gene orientationplus
Gene size49438 bp
Gene sequence
OMIM ID611716