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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
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

External links

Nomenclature
HGNC (Hugo)ATP6V0A2   18481
Cards
Entrez_Gene (NCBI)ATP6V0A2  23545  ATPase, H+ transporting, lysosomal V0 subunit a2
GeneCards (Weizmann)ATP6V0A2
Ensembl (Hinxton)ENSG00000185344 [Gene_View]  chr12:124196865-124246301 [Contig_View]  ATP6V0A2 [Vega]
ICGC DataPortalENSG00000185344
cBioPortalATP6V0A2
AceView (NCBI)ATP6V0A2
Genatlas (Paris)ATP6V0A2
WikiGenes23545
SOURCE (Princeton)NM_012463
Genomic and cartography
GoldenPath (UCSC)ATP6V0A2  -  12q24.31   chr12:124196865-124246301 +  12q24.31   [Description]    (hg19-Feb_2009)
EnsemblATP6V0A2 - 12q24.31 [CytoView]
Mapping of homologs : NCBIATP6V0A2 [Mapview]
OMIM219200   278250   611716   
Gene and transcription
Genbank (Entrez)AF112972 AK056800 AK289391 AK298778 BC000826
RefSeq transcript (Entrez)NM_012463
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_012743 NT_029419 NW_001838064 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y487 (Uniprot)
NextProtQ9Y487  [Medical]
With graphics : InterProQ9Y487
Splice isoforms : SwissVarQ9Y487 (Swissvar)
Domains : Interpro (EBI)V-ATPase_116kDa_su [organisation]   V-type_ATPase_116kDa_su_euka [organisation]  
Related proteins : CluSTrQ9Y487
Domain families : Pfam (Sanger)V_ATPase_I (PF01496)   
Domain families : Pfam (NCBI)pfam01496   
DMDM Disease mutations23545
Blocks (Seattle)Q9Y487
Human Protein AtlasENSG00000185344 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9Y487
HPRD16521
IPIIPI00000425   IPI00152221   IPI01014774   IPI01015704   IPI01013873   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y487
IntAct (EBI)Q9Y487
FunCoupENSG00000185344
BioGRIDATP6V0A2
InParanoidQ9Y487
Interologous Interaction database Q9Y487
IntegromeDBATP6V0A2
STRING (EMBL)ATP6V0A2
Ontologies - Pathways
Ontology : AmiGOvacuolar proton-transporting V-type ATPase, V0 domain  acrosomal vesicle  protein binding  cytoplasm  lysosomal membrane  plasma membrane  cellular iron ion homeostasis  immune response  insulin receptor signaling pathway  endosome membrane  hydrogen ion transmembrane transporter activity  ATP hydrolysis coupled proton transport  integral component of membrane  phagocytic vesicle membrane  transferrin transport  interaction with host  transmembrane transport  phagosome maturation  
Ontology : EGO-EBIvacuolar proton-transporting V-type ATPase, V0 domain  acrosomal vesicle  protein binding  cytoplasm  lysosomal membrane  plasma membrane  cellular iron ion homeostasis  immune response  insulin receptor signaling pathway  endosome membrane  hydrogen ion transmembrane transporter activity  ATP hydrolysis coupled proton transport  integral component of membrane  phagocytic vesicle membrane  transferrin transport  interaction with host  transmembrane transport  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
Wikipedia pathwaysATP6V0A2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ATP6V0A2
snp3D : Map Gene to Disease23545
SNP (GeneSNP Utah)ATP6V0A2
SNP : HGBaseATP6V0A2
Genetic variants : HAPMAPATP6V0A2
Exome VariantATP6V0A2
1000_GenomesATP6V0A2 
ICGC programENSG00000185344 
Somatic Mutations in Cancer : COSMICATP6V0A2 
CONAN: Copy Number AnalysisATP6V0A2 
Mutations and Diseases : HGMDATP6V0A2
Mutations and Diseases : intOGenATP6V0A2
Genomic VariantsATP6V0A2  ATP6V0A2 [DGVbeta]
dbVarATP6V0A2
ClinVarATP6V0A2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM219200    278250    611716   
MedgenATP6V0A2
GENETestsATP6V0A2
Disease Genetic AssociationATP6V0A2
Huge Navigator ATP6V0A2 [HugePedia]  ATP6V0A2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneATP6V0A2
Homology/Alignments : Family Browser (UCSC)ATP6V0A2
Phylogenetic Trees/Animal Genes : TreeFamATP6V0A2
Chemical/Protein Interactions : CTD23545
Chemical/Pharm GKB GenePA38549
Clinical trialATP6V0A2
Cancer Resource (Charite)ENSG00000185344
Other databases
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
CoreMineATP6V0A2
iHOPATP6V0A2
OncoSearchATP6V0A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:39:09 CEST 2014

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