Homo sapiens Gene: ATP6V0A2
Summary
InnateDB Gene IDBG-63688.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATP6V0A2
Gene Name ATPase, H+ transporting, lysosomal V0 subunit a2
Synonyms A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7; RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS;
Species Homo sapiens
Ensembl Gene ENSG00000185344
Encoded Proteins
ATPase, H+ transporting, lysosomal V0 subunit a2
ATPase, H+ transporting, lysosomal V0 subunit a2
ATPase, H+ transporting, lysosomal V0 subunit a2
ATPase, H+ transporting, lysosomal V0 subunit a2
ATPase, H+ transporting, lysosomal V0 subunit a2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:123712318-123761755
Strand Forward strand
Band q24.31
Transcripts
ENST00000330342 ENSP00000332247
ENST00000504192 ENSP00000443441
ENST00000540368
ENST00000545059
ENST00000536426
ENST00000534943 ENSP00000443726
ENST00000544833 ENSP00000441143
ENST00000543687
ENST00000613625 ENSP00000482236
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0015078 hydrogen ion transmembrane transporter activity
Biological Process
GO:0006879 cellular iron ion homeostasis
GO:0006955 immune response
GO:0008286 insulin receptor signaling pathway
GO:0015991 ATP hydrolysis coupled proton transport
GO:0033572 transferrin transport
GO:0051701 interaction with host
GO:0055085 transmembrane transport
GO:0090382 phagosome maturation
Cellular Component
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain
GO:0001669 acrosomal vesicle
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0016021 integral component of membrane
GO:0030670 phagocytic vesicle membrane
GO:0033179 proton-transporting V-type ATPase, V0 domain
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Iron uptake and transport pathway
Insulin receptor recycling pathway
Signal Transduction pathway
Transferrin endocytosis and recycling pathway
Phagosomal maturation (early endosomal stage) pathway
Signaling by Insulin receptor pathway
Latent infection of Homo sapiens with Mycobacterium tuberculosis pathway
Disease pathway
KEGG
Oxidative phosphorylation pathway
Lysosome pathway
Phagosome pathway
Collecting duct acid secretion pathway
Vibrio cholerae infection pathway
Epithelial cell signaling in Helicobacter pylori infection pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.25786 Hs.610400 Hs.625851
RefSeq NM_012463 XM_006719317 XM_006719318
HUGO
OMIM
CCDS CCDS9254
HPRD 16521
IMGT
EMBL
GenPept
RNA Seq Atlas