ATP6V0A2

V-type proton ATPase 116 kDa subunit a isoform 2, also known as V-ATPase 116 kDa isoform a2, is an enzyme that in humans is encoded by the ATP6V0A2 gene.^[5][6][7]

ATP6V0A2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2LX4
Identifiers
Aliases	ATP6V0A2, A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1, WSS, ATPase H+ transporting V0 subunit a2
External IDs	OMIM: 611716; MGI: 104855; HomoloGene: 56523; GeneCards: ATP6V0A2; OMA:ATP6V0A2 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q24.31 Start 123,712,318 bp[1] End 123,761,755 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 F Start 124,766,641 bp[2] End 124,801,519 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of leg sural nerve stromal cell of endometrium skin of abdomen gonad endothelial cell body of stomach gastric mucosa monocyte minor salivary glands Top expressed in choroid plexus of fourth ventricle secondary oocyte intestinal villus jejunum crypt of lieberkuhn of small intestine entorhinal cortex perirhinal cortex duodenum lactiferous gland Ileal epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATPase binding proton-transporting ATPase activity, rotational mechanism protein binding proton transmembrane transporter activity Cellular component integral component of membrane endosome proton-transporting V-type ATPase, V0 domain phagocytic vesicle membrane membrane vacuolar proton-transporting V-type ATPase, V0 domain lysosomal membrane acrosomal vesicle vacuolar proton-transporting V-type ATPase complex endosome membrane plasma membrane intracellular organelle perinuclear region of cytoplasm Biological process insulin receptor signaling pathway transferrin transport vacuolar proton-transporting V-type ATPase complex assembly ion transport vacuolar acidification ion transmembrane transport immune response ATP synthesis coupled proton transport regulation of macroautophagy phagosome acidification cellular iron ion homeostasis cellular response to increased oxygen levels transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23545 21871 Ensembl ENSG00000185344 ENSMUSG00000038023 UniProt Q9Y487 P15920 RefSeq (mRNA) NM_012463 NM_011596 RefSeq (protein) NP_036595 NP_035726 Location (UCSC) Chr 12: 123.71 – 123.76 Mb Chr 5: 124.77 – 124.8 Mb PubMed search [3] [4]
Wikidata
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Function

V-ATPase 116 kDa isoform a2 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 consists 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.^[7]

Clinical significance

Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome.^[7]