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ATP6V1B2 (ATPase H+ transporting V1 subunit B2)

Identity

Alias_namesVPP3
ATP6B2
ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
Alias_symbol (synonym)VATB
Vma2
HO57
Other aliasATP6B1B2
DOOD
ZLS2
HGNC (Hugo) ATP6V1B2
LocusID (NCBI) 526
Atlas_Id 60642
Location 8p21.3  [Link to chromosome band 8p21]
Location_base_pair Starts at 20197193 and ends at 20221696 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP6V1B2 (8p21.3) / ATP6V1B2 (8p21.3)

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)ATP6V1B2   854
Cards
Entrez_Gene (NCBI)ATP6V1B2  526  ATPase H+ transporting V1 subunit B2
AliasesATP6B1B2; ATP6B2; DOOD; HO57; 
VATB; VPP3; Vma2; ZLS2
GeneCards (Weizmann)ATP6V1B2
Ensembl hg19 (Hinxton)ENSG00000147416 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147416 [Gene_View]  chr8:20197193-20221696 [Contig_View]  ATP6V1B2 [Vega]
ICGC DataPortalENSG00000147416
TCGA cBioPortalATP6V1B2
AceView (NCBI)ATP6V1B2
Genatlas (Paris)ATP6V1B2
WikiGenes526
SOURCE (Princeton)ATP6V1B2
Genetics Home Reference (NIH)ATP6V1B2
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V1B2  -     chr8:20197193-20221696 +  8p21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V1B2  -     8p21.3   [Description]    (hg19-Feb_2009)
EnsemblATP6V1B2 - 8p21.3 [CytoView hg19]  ATP6V1B2 - 8p21.3 [CytoView hg38]
Mapping of homologs : NCBIATP6V1B2 [Mapview hg19]  ATP6V1B2 [Mapview hg38]
OMIM124480   606939   616455   
Gene and transcription
Genbank (Entrez)AB208806 AK127443 AK294163 AK298819 AK312372
RefSeq transcript (Entrez)NM_001693
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP6V1B2
Cluster EST : UnigeneHs.295917 [ NCBI ]
CGAP (NCI)Hs.295917
Alternative Splicing GalleryENSG00000147416
Gene ExpressionATP6V1B2 [ NCBI-GEO ]   ATP6V1B2 [ EBI - ARRAY_EXPRESS ]   ATP6V1B2 [ SEEK ]   ATP6V1B2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1B2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)526
GTEX Portal (Tissue expression)ATP6V1B2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21281   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21281  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21281
Splice isoforms : SwissVarP21281
PhosPhoSitePlusP21281
Domaine pattern : Prosite (Expaxy)ATPASE_ALPHA_BETA (PS00152)   
Domains : Interpro (EBI)ATPase_a/bsu_AS    ATPase_F1/V1/A1_a/bsu_N    ATPase_F1/V1/A1_a/bsu_nucl-bd    ATPase_V1-cplx_bsu    P-loop_NTPase    V-ATPase_su_B/beta   
Domain families : Pfam (Sanger)ATP-synt_ab (PF00006)    ATP-synt_ab_N (PF02874)   
Domain families : Pfam (NCBI)pfam00006    pfam02874   
Conserved Domain (NCBI)ATP6V1B2
DMDM Disease mutations526
Blocks (Seattle)ATP6V1B2
SuperfamilyP21281
Human Protein AtlasENSG00000147416
Peptide AtlasP21281
HPRD06088
IPIIPI00007812   IPI01015994   IPI00848320   IPI00980527   IPI01011788   IPI00979664   IPI00976643   
Protein Interaction databases
DIP (DOE-UCLA)P21281
IntAct (EBI)P21281
FunCoupENSG00000147416
BioGRIDATP6V1B2
STRING (EMBL)ATP6V1B2
ZODIACATP6V1B2
Ontologies - Pathways
QuickGOP21281
Ontology : AmiGOruffle  protein binding  ATP binding  lysosomal membrane  cytosol  cytosol  plasma membrane  microvillus  insulin receptor signaling pathway  endomembrane system  hydrogen ion transmembrane transporter activity  ATP hydrolysis coupled proton transport  proton transport  integral component of membrane  regulation of macroautophagy  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  melanosome  myelin sheath  intracellular membrane-bounded organelle  ATP metabolic process  proton-transporting ATPase activity, rotational mechanism  extracellular exosome  phagosome acidification  
Ontology : EGO-EBIruffle  protein binding  ATP binding  lysosomal membrane  cytosol  cytosol  plasma membrane  microvillus  insulin receptor signaling pathway  endomembrane system  hydrogen ion transmembrane transporter activity  ATP hydrolysis coupled proton transport  proton transport  integral component of membrane  regulation of macroautophagy  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  melanosome  myelin sheath  intracellular membrane-bounded organelle  ATP metabolic process  proton-transporting ATPase activity, rotational mechanism  extracellular exosome  phagosome acidification  
Pathways : KEGGOxidative phosphorylation    Phagosome    Synaptic vesicle cycle    Collecting duct acid secretion    Vibrio cholerae infection    Epithelial cell signaling in Helicobacter pylori infection    Rheumatoid arthritis   
NDEx NetworkATP6V1B2
Atlas of Cancer Signalling NetworkATP6V1B2
Wikipedia pathwaysATP6V1B2
Orthology - Evolution
OrthoDB526
GeneTree (enSembl)ENSG00000147416
Phylogenetic Trees/Animal Genes : TreeFamATP6V1B2
HOVERGENP21281
HOGENOMP21281
Homologs : HomoloGeneATP6V1B2
Homology/Alignments : Family Browser (UCSC)ATP6V1B2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1B2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1B2
dbVarATP6V1B2
ClinVarATP6V1B2
1000_GenomesATP6V1B2 
Exome Variant ServerATP6V1B2
ExAC (Exome Aggregation Consortium)ATP6V1B2 (select the gene name)
Genetic variants : HAPMAP526
Genomic Variants (DGV)ATP6V1B2 [DGVbeta]
DECIPHERATP6V1B2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6V1B2 
Mutations
ICGC Data PortalATP6V1B2 
TCGA Data PortalATP6V1B2 
Broad Tumor PortalATP6V1B2
OASIS PortalATP6V1B2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V1B2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V1B2
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
BioMutasearch ATP6V1B2
DgiDB (Drug Gene Interaction Database)ATP6V1B2
DoCM (Curated mutations)ATP6V1B2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1B2 (select a term)
intoGenATP6V1B2
Cancer3DATP6V1B2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM124480    606939    616455   
Orphanet3052    11525   
MedgenATP6V1B2
Genetic Testing Registry ATP6V1B2
NextProtP21281 [Medical]
TSGene526
GENETestsATP6V1B2
Target ValidationATP6V1B2
Huge Navigator ATP6V1B2 [HugePedia]
snp3D : Map Gene to Disease526
BioCentury BCIQATP6V1B2
ClinGenATP6V1B2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD526
Chemical/Pharm GKB GenePA25155
Clinical trialATP6V1B2
Miscellaneous
canSAR (ICR)ATP6V1B2 (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V1B2
EVEXATP6V1B2
GoPubMedATP6V1B2
iHOPATP6V1B2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:02:03 CEST 2017

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