ATP6V0A2 (ATPase H+ transporting V0 subunit a2)

2011-03-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
A2,ARCL,ARCL2A,ATP6A2,ATP6N1D,J6B7,RTF,STV1,TJ6,TJ6M,TJ6S,VPH1,WSS,a2V
FUSION GENES

Other Information

Locus ID:

NCBI: 23545
MIM: 611716
HGNC: 18481
Ensembl: ENSG00000185344

Variants:

dbSNP: 23545
ClinVar: 23545
TCGA: ENSG00000185344
COSMIC: ATP6V0A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185344ENST00000330342Q9Y487
ENSG00000185344ENST00000504192F5H5F3
ENSG00000185344ENST00000534943F5H847
ENSG00000185344ENST00000544833F5GX48
ENSG00000185344ENST00000613625Q8TBM3

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Vibrio cholerae infectionKEGGko05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
Oxidative phosphorylationKEGGhsa00190
Vibrio cholerae infectionKEGGhsa05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
V-type ATPase, eukaryotesKEGGhsa_M00160
V-type ATPase, eukaryotesKEGGM00160
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor recyclingREACTOMER-HSA-77387
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
Transferrin endocytosis and recyclingREACTOMER-HSA-917977
Ion channel transportREACTOMER-HSA-983712

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
181571292008Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.113
193215992009Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.39
194017192009Autosomal recessive cutis laxa syndrome revisited.32
191711922009Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.24
227731322012Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.24
211780052011Tumor-associated a2 vacuolar ATPase acts as a key mediator of cancer-related inflammation by inducing pro-tumorigenic properties in monocytes.17
264188772015The Vacuolar ATPase a2-subunit regulates Notch signaling in triple-negative breast cancer cells.15
268995342016Selective inhibition of tumor cell associated Vacuolar-ATPase 'a2' isoform overcomes cisplatin resistance in ovarian cancer cells.14
172958992007The 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.11
201532922010Specific motifs of the V-ATPase a2-subunit isoform interact with catalytic and regulatory domains of ARNO.11

Citation

Dessen P

ATP6V0A2 (ATPase H+ transporting V0 subunit a2)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52132/atp6v0a2