ATP6V0A2

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.

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

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• {{cite journal |vauthors=Nishi T, Forgac M |title=The vacuolar (H+)-ATPases--nature's most versatile proton pumps |journal=Nat. Rev. Mol. Cell Biol. |volume=3 |issue= 2 |pages= 94–103 |year= 2002 |pmid= 11836511 |doi= 10.1038/nrm729 |s2cid=21122465 |doi-access=free }}
• {{cite journal |vauthors=Kawasaki-Nishi S, Nishi T, Forgac M |title=Proton translocation driven by ATP hydrolysis in V-ATPases |journal=FEBS Lett. |volume=545 |issue= 1 |pages= 76–85 |year= 2003 |pmid= 12788495 |doi=10.1016/S0014-5793(03)00396-X |s2cid=10507213 }}
• {{cite journal | author=Morel N |title=Neurotransmitter release: the dark side of the vacuolar-H+ATPase |journal=Biol. Cell |volume=95 |issue= 7 |pages= 453–457 |year= 2004 |pmid= 14597263 |doi=10.1016/S0248-4900(03)00075-3 |s2cid=17519696 |doi-access=free }}
• {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–16903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 | author2=Feingold EA | author3=Grouse LH | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
• {{cite journal | author=Smith AN |title=Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes |journal=Mol. Cell |volume=12 |issue= 4 |pages= 801–803 |year= 2003 |pmid= 14580332 |doi=10.1016/S1097-2765(03)00397-6 | author2=Lovering RC | author3=Futai M | last4=Takeda | first4=Jun | last5=Brown | first5=Dennis | last6=Karet | first6=Fiona E | doi-access=free }}
• {{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–45 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 | author2=Suzuki Y | author3=Nishikawa T | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}
• {{cite journal |vauthors=Derks R, Beaman K |title=Regeneration and tolerance factor modulates the effect of adenosine triphosphate-induced interleukin 1 beta secretion in human macrophages |journal=Hum. Immunol. |volume=65 |issue= 7 |pages= 676–682 |year= 2005 |pmid= 15301855 |doi= 10.1016/j.humimm.2004.04.006 }}
• {{cite journal |vauthors=Derks RA, Beaman KD |title=Regeneration and tolerance factor prevents bystander T-cell death associated with human immunodeficiency virus infection |journal=Clin. Diagn. Lab. Immunol. |volume=11 |issue= 5 |pages= 835–840 |year= 2005 |pmid= 15358640 |doi= 10.1128/CDLI.11.5.835-840.2004 | pmc=515283 }}
• {{cite journal | author=Lattuada D |title=The placental immunomodulatory cytokine regeneration and tolerance factor is also expressed by both human cycling and early pregnant endometrium |journal=Am. J. Reprod. Immunol. |volume=52 |issue= 3 |pages= 224–231 |year= 2005 |pmid= 15373763 |doi= 10.1111/j.1600-0897.2004.00210.x | author2=Mangioni S | author3=Viganò P | last4=Ntrivalas | first4=Evangelos I. | last5=Rossi | first5=Margherita | last6=Palotti | first6=Francesco | last7=Carinelli | first7=Silvestro | last8=Beaman | first8=Kenneth D. | last9=Di Blasio | first9=Anna M. |s2cid=31733518 }}
• {{cite journal | author=Hurtado-Lorenzo A |title=V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway |journal=Nat. Cell Biol. |volume=8 |issue= 2 |pages= 124–136 |year= 2006 |pmid= 16415858 |doi= 10.1038/ncb1348 | author2=Skinner M | author3=El Annan J | last4=Futai | first4=Masamitsu | last5=Sun-Wada | first5=Ge-Hong | last6=Bourgoin | first6=Sylvain | last7=Casanova | first7=James | last8=Wildeman | first8=Alan | last9=Bechoua | first9=Shaliha |s2cid=23246611 }}
• {{cite journal | author=Olsen JV |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks |journal=Cell |volume=127 |issue= 3 |pages= 635–648 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 | author2=Blagoev B | author3=Gnad F | last4=Macek | first4=Boris | last5=Kumar | first5=Chanchal | last6=Mortensen | first6=Peter | last7=Mann | first7=Matthias |s2cid=7827573 | doi-access=free}}
• {{cite journal |vauthors=Ntrivalas E, Gilman-Sachs A, Kwak-Kim J, Beaman K |title=The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells |journal=Am. J. Reprod. Immunol. |volume=57 |issue= 3 |pages= 201–209 |year= 2007 |pmid= 17295899 |doi= 10.1111/j.1600-0897.2006.00463.x |s2cid=37937722 }}

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• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cutis-laxa GeneReviews/NCBI/NIH/UW entry on ATP6V0A2-Related Autosomal Recessive Cutis Laxa]
• [https://www.ncbi.nlm.nih.gov/omim/219100,278250,219200,123700,231070,219150,612940,613177,613075,219200,278250,611716,219200,278250,611716 OMIM entries on ATP6V0A2-Related Autosomal Recessive Cutis Laxa]
• {{UCSC gene info|ATP6V0A2}}

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