ATP6V0A2, Official Symbol ATP6V0A2provided by HGNC Official Full Name ATPase H+ transporting V0 subunit a2provided by HGNC Primary source HGNC:HGNC:18481 See related Ensembl:ENSG00000185344 MIM:611716; AllianceGenome:HGNC:18481 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as A2; RTF; TJ6; WSS; a2V; ARCL; J6B7; STV1; TJ6M; TJ6S; VPH1; ARCL2A; ATP6A2; ATP6N1D Summary The 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, Jul 2009] Expression Ubiquitous expression in lymph node (RPKM 4.1), duodenum (RPKM 4.0) and 25 other tissues See more Orthologs mouse all