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ATP6V0A2 (ATPase, H+ transporting, lysosomal V0 subunit a2)

Identity

Other namesA2
ARCL
ARCL2A
ATP6A2
ATP6N1D
J6B7
RTF
STV1
TJ6
TJ6M
TJ6S
VPH1
WSS
HGNC (Hugo) ATP6V0A2
LocusID (NCBI) 23545
Atlas_Id 52132
Location 12q24.31
Location_base_pair Starts at 124196865 and ends at 124246301 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ATP6V0A2   18481
Cards
Entrez_Gene (NCBI)ATP6V0A2  23545  ATPase, H+ transporting, lysosomal V0 subunit a2
GeneCards (Weizmann)ATP6V0A2
Ensembl hg19 (Hinxton)ENSG00000185344 [Gene_View]  chr12:124196865-124246301 [Contig_View]  ATP6V0A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000185344 [Gene_View]  chr12:124196865-124246301 [Contig_View]  ATP6V0A2 [Vega]
ICGC DataPortalENSG00000185344
TCGA cBioPortalATP6V0A2
AceView (NCBI)ATP6V0A2
Genatlas (Paris)ATP6V0A2
WikiGenes23545
SOURCE (Princeton)ATP6V0A2
Genomic and cartography
GoldenPath hg19 (UCSC)ATP6V0A2  -     chr12:124196865-124246301 +  12q24.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP6V0A2  -     12q24.31   [Description]    (hg38-Dec_2013)
EnsemblATP6V0A2 - 12q24.31 [CytoView hg19]  ATP6V0A2 - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBIATP6V0A2 [Mapview hg19]  ATP6V0A2 [Mapview hg38]
OMIM219200   278250   611716   
Gene and transcription
Genbank (Entrez)AF112972 AK056800 AK289391 AK298778 BC000826
RefSeq transcript (Entrez)NM_012463
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_012743 NT_029419 NW_004929386
Consensus coding sequences : CCDS (NCBI)ATP6V0A2
Cluster EST : UnigeneHs.25786 [ NCBI ]
CGAP (NCI)Hs.25786
Alternative Splicing : Fast-db (Paris)GSHG0007102
Alternative Splicing GalleryENSG00000185344
Gene ExpressionATP6V0A2 [ NCBI-GEO ]     ATP6V0A2 [ SEEK ]   ATP6V0A2 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)23545
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y487 (Uniprot)
NextProtQ9Y487  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y487
Splice isoforms : SwissVarQ9Y487 (Swissvar)
PhosPhoSitePlusQ9Y487
Domains : Interpro (EBI)V-ATPase_116kDa_su    V-type_ATPase_116kDa_su_euka   
Domain families : Pfam (Sanger)V_ATPase_I (PF01496)   
Domain families : Pfam (NCBI)pfam01496   
DMDM Disease mutations23545
Blocks (Seattle)ATP6V0A2
Human Protein AtlasENSG00000185344
Peptide AtlasQ9Y487
HPRD16521
IPIIPI00000425   IPI00152221   IPI01014774   IPI01015704   IPI01013873   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y487
IntAct (EBI)Q9Y487
FunCoupENSG00000185344
BioGRIDATP6V0A2
IntegromeDBATP6V0A2
STRING (EMBL)ATP6V0A2
ZODIACATP6V0A2
Ontologies - Pathways
QuickGOQ9Y487
Ontology : AmiGOvacuolar proton-transporting V-type ATPase, V0 domain  acrosomal vesicle  protein binding  cytoplasm  lysosomal membrane  plasma membrane  plasma membrane  focal adhesion  cellular iron ion homeostasis  immune response  vacuolar acidification  insulin receptor signaling pathway  endosome membrane  ATP synthesis coupled proton transport  ATP hydrolysis coupled proton transport  integral component of membrane  vacuolar proton-transporting V-type ATPase complex  phagocytic vesicle membrane  transferrin transport  ion transmembrane transport  proton-transporting ATPase activity, rotational mechanism  ATPase binding  transmembrane transport  vacuolar proton-transporting V-type ATPase complex assembly  phagosome maturation  
Ontology : EGO-EBIvacuolar proton-transporting V-type ATPase, V0 domain  acrosomal vesicle  protein binding  cytoplasm  lysosomal membrane  plasma membrane  plasma membrane  focal adhesion  cellular iron ion homeostasis  immune response  vacuolar acidification  insulin receptor signaling pathway  endosome membrane  ATP synthesis coupled proton transport  ATP hydrolysis coupled proton transport  integral component of membrane  vacuolar proton-transporting V-type ATPase complex  phagocytic vesicle membrane  transferrin transport  ion transmembrane transport  proton-transporting ATPase activity, rotational mechanism  ATPase binding  transmembrane transport  vacuolar proton-transporting V-type ATPase complex assembly  phagosome maturation  
Pathways : KEGGOxidative phosphorylation    Lysosome    Phagosome    Synaptic vesicle cycle    Collecting duct acid secretion    Vibrio cholerae infection    Epithelial cell signaling in Helicobacter pylori infection    Tuberculosis    Rheumatoid arthritis   
Protein Interaction DatabaseATP6V0A2
Atlas of Cancer Signalling NetworkATP6V0A2
Wikipedia pathwaysATP6V0A2
Orthology - Evolution
OrthoDB23545
GeneTree (enSembl)ENSG00000185344
Phylogenetic Trees/Animal Genes : TreeFamATP6V0A2
Homologs : HomoloGeneATP6V0A2
Homology/Alignments : Family Browser (UCSC)ATP6V0A2
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerATP6V0A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V0A2
dbVarATP6V0A2
ClinVarATP6V0A2
1000_GenomesATP6V0A2 
Exome Variant ServerATP6V0A2
Exome Aggregation Consortium (ExAC)ENSG00000185344
SNP (GeneSNP Utah)ATP6V0A2
SNP : HGBaseATP6V0A2
Genetic variants : HAPMAPATP6V0A2
Genomic Variants (DGV)ATP6V0A2 [DGVbeta]
Mutations
ICGC Data PortalATP6V0A2 
TCGA Data PortalATP6V0A2 
Tumor PortalATP6V0A2
TCGA Copy Number PortalATP6V0A2
Somatic Mutations in Cancer : COSMICATP6V0A2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch ATP6V0A2
DgiDB (Drug Gene Interaction Database)ATP6V0A2
DoCM (Curated mutations)ATP6V0A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V0A2 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:124196865-124246301
CONAN: Copy Number AnalysisATP6V0A2 
Mutations and Diseases : HGMDATP6V0A2
OMIM219200    278250    611716   
MedgenATP6V0A2
NextProtQ9Y487 [Medical]
TSGene23545
GENETestsATP6V0A2
Huge Navigator ATP6V0A2 [HugePedia]  ATP6V0A2 [HugeCancerGEM]
snp3D : Map Gene to Disease23545
BioCentury BCIQATP6V0A2
General knowledge
Chemical/Protein Interactions : CTD23545
Chemical/Pharm GKB GenePA38549
Clinical trialATP6V0A2
Other databases
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V0A2
GoPubMedATP6V0A2
iHOPATP6V0A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jan 16 18:11:18 CET 2016

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