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ATP6V0A2 (ATPase H+ transporting V0 subunit a2)

Identity

Alias (NCBI)A2
ARCL
ARCL2A
ATP6A2
ATP6N1D
J6B7
RTF
STV1
TJ6
TJ6M
TJ6S
VPH1
WSS
a2V
HGNC (Hugo) ATP6V0A2
HGNC Alias symbTJ6
a2
TJ6s
TJ6M
ATP6a2
J6B7
ATP6N1D
Vph1
Stv1
a2V
RTF
HGNC Alias nameinfantile malignant osteopetrosis
 V-ATPase subunit a2
 V-type proton ATPase 116 kDa subunit a2
 regeneration and tolerance factor
HGNC Previous nameinfantile malignant osteopetrosis
 ATPase, H+ transporting, lysosomal V0 subunit a isoform 2
 ATPase, H+ transporting, lysosomal V0 subunit A2
 ATPase, H+ transporting, lysosomal V0 subunit a2
LocusID (NCBI) 23545
Atlas_Id 52132
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 123712353 and ends at 123761754 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GAK (4p16.3) / ATP6V0A2 (12q24.31)H2AFV (7p13) / ATP6V0A2 (12q24.31)

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    ATPase H+ transporting V0 subunit a2
AliasesA2; ARCL; ARCL2A; ATP6A2; 
ATP6N1D; J6B7; RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS; a2V
GeneCards (Weizmann)ATP6V0A2
Ensembl hg19 (Hinxton)ENSG00000185344 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185344 [Gene_View]  ENSG00000185344 [Sequence]  chr12:123712353-123761754 [Contig_View]  ATP6V0A2 [Vega]
ICGC DataPortalENSG00000185344
TCGA cBioPortalATP6V0A2
AceView (NCBI)ATP6V0A2
Genatlas (Paris)ATP6V0A2
SOURCE (Princeton)ATP6V0A2
Genetics Home Reference (NIH)ATP6V0A2
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V0A2  -     chr12:123712353-123761754 +  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V0A2  -     12q24.31   [Description]    (hg19-Feb_2009)
GoldenPathATP6V0A2 - 12q24.31 [CytoView hg19]  ATP6V0A2 - 12q24.31 [CytoView hg38]
ImmunoBaseENSG00000185344
Genome Data Viewer NCBIATP6V0A2 [Mapview hg19]  
OMIM219200   278250   611716   
Gene and transcription
Genbank (Entrez)AF112972 AK056800 AK289391 AK298778 BC000826
RefSeq transcript (Entrez)NM_012463
Consensus coding sequences : CCDS (NCBI)ATP6V0A2
Gene ExpressionATP6V0A2 [ NCBI-GEO ]   ATP6V0A2 [ EBI - ARRAY_EXPRESS ]   ATP6V0A2 [ SEEK ]   ATP6V0A2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V0A2 [ Firebrowse - Broad ]
GenevisibleExpression of ATP6V0A2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23545
GTEX Portal (Tissue expression)ATP6V0A2
Human Protein AtlasENSG00000185344-ATP6V0A2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y487   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y487  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y487
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   
Conserved Domain (NCBI)ATP6V0A2
SuperfamilyQ9Y487
AlphaFold pdb e-kbQ9Y487   
Human Protein Atlas [tissue]ENSG00000185344-ATP6V0A2 [tissue]
HPRD16521
Protein Interaction databases
DIP (DOE-UCLA)Q9Y487
IntAct (EBI)Q9Y487
BioGRIDATP6V0A2
STRING (EMBL)ATP6V0A2
ZODIACATP6V0A2
Ontologies - Pathways
QuickGOQ9Y487
Ontology : AmiGOvacuolar proton-transporting V-type ATPase, V0 domain  acrosomal vesicle  protein binding  lysosomal membrane  plasma membrane  cellular iron ion homeostasis  immune response  vacuolar acidification  insulin receptor signaling pathway  endosome membrane  integral component of membrane  regulation of macroautophagy  vacuolar proton-transporting V-type ATPase complex  phagocytic vesicle membrane  transferrin transport  ion transmembrane transport  cellular response to increased oxygen levels  proton-transporting ATPase activity, rotational mechanism  perinuclear region of cytoplasm  ATPase binding  phagosome acidification  proton transmembrane transport  
Ontology : EGO-EBIvacuolar proton-transporting V-type ATPase, V0 domain  acrosomal vesicle  protein binding  lysosomal membrane  plasma membrane  cellular iron ion homeostasis  immune response  vacuolar acidification  insulin receptor signaling pathway  endosome membrane  integral component of membrane  regulation of macroautophagy  vacuolar proton-transporting V-type ATPase complex  phagocytic vesicle membrane  transferrin transport  ion transmembrane transport  cellular response to increased oxygen levels  proton-transporting ATPase activity, rotational mechanism  perinuclear region of cytoplasm  ATPase binding  phagosome acidification  proton transmembrane transport  
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   
NDEx NetworkATP6V0A2
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
Fusion : QuiverATP6V0A2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V0A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V0A2
dbVarATP6V0A2
ClinVarATP6V0A2
MonarchATP6V0A2
1000_GenomesATP6V0A2 
Exome Variant ServerATP6V0A2
GNOMAD BrowserENSG00000185344
Varsome BrowserATP6V0A2
ACMGATP6V0A2 variants
VarityQ9Y487
Genomic Variants (DGV)ATP6V0A2 [DGVbeta]
DECIPHERATP6V0A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6V0A2 
Mutations
ICGC Data PortalATP6V0A2 
TCGA Data PortalATP6V0A2 
Broad Tumor PortalATP6V0A2
OASIS PortalATP6V0A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V0A2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DATP6V0A2
Mutations and Diseases : HGMDATP6V0A2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaATP6V0A2
DgiDB (Drug Gene Interaction Database)ATP6V0A2
DoCM (Curated mutations)ATP6V0A2
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V0A2
Cancer3DATP6V0A2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM219200    278250    611716   
Orphanet2571    22203   
DisGeNETATP6V0A2
MedgenATP6V0A2
Genetic Testing Registry ATP6V0A2
NextProtQ9Y487 [Medical]
GENETestsATP6V0A2
Target ValidationATP6V0A2
Huge Navigator ATP6V0A2 [HugePedia]
ClinGenATP6V0A2
Clinical trials, drugs, therapy
MyCancerGenomeATP6V0A2
Protein Interactions : CTDATP6V0A2
Pharm GKB GenePA38549
PharosQ9Y487
Clinical trialATP6V0A2
Miscellaneous
canSAR (ICR)ATP6V0A2
HarmonizomeATP6V0A2
DataMed IndexATP6V0A2
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATP6V0A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:00:36 CEST 2021

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