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ATP6V0B (ATPase H+ transporting V0 subunit b)

Identity

Alias_namesATP6F
ATPase, H transporting, lysosomal (vacuolar proton pump) 21kD
ATPase, H transporting, lysosomal 21kDa, V0 subunit c''
ATPase, H transporting, lysosomal 21kDa, V0 subunit b
Alias_symbol (synonym)VMA16
HATPL
Other alias
HGNC (Hugo) ATP6V0B
LocusID (NCBI) 533
Atlas_Id 45634
Location 1p34.1  [Link to chromosome band 1p34]
Location_base_pair Starts at 43974648 and ends at 43978300 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)
ATP6V0B (1p34.1) / ATP6V0B (1p34.1)ATP6V0B (1p34.1) / DECR1 (8q21.3)KCNQ2 (20q13.33) / ATP6V0B (1p34.1)
MYH9 (22q12.3) / ATP6V0B (1p34.1)PTMA (2q37.1) / ATP6V0B (1p34.1)

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)ATP6V0B   861
Cards
Entrez_Gene (NCBI)ATP6V0B  533  ATPase H+ transporting V0 subunit b
AliasesATP6F; HATPL; VMA16
GeneCards (Weizmann)ATP6V0B
Ensembl hg19 (Hinxton)ENSG00000117410 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117410 [Gene_View]  chr1:43974648-43978300 [Contig_View]  ATP6V0B [Vega]
ICGC DataPortalENSG00000117410
TCGA cBioPortalATP6V0B
AceView (NCBI)ATP6V0B
Genatlas (Paris)ATP6V0B
WikiGenes533
SOURCE (Princeton)ATP6V0B
Genetics Home Reference (NIH)ATP6V0B
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V0B  -     chr1:43974648-43978300 +  1p34.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V0B  -     1p34.1   [Description]    (hg19-Feb_2009)
EnsemblATP6V0B - 1p34.1 [CytoView hg19]  ATP6V0B - 1p34.1 [CytoView hg38]
Mapping of homologs : NCBIATP6V0B [Mapview hg19]  ATP6V0B [Mapview hg38]
OMIM603717   
Gene and transcription
Genbank (Entrez)AI439545 BC000423 BC005876 BC042664 BC053601
RefSeq transcript (Entrez)NM_001039457 NM_001294333 NM_004047
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP6V0B
Cluster EST : UnigeneHs.596514 [ NCBI ]
CGAP (NCI)Hs.596514
Alternative Splicing GalleryENSG00000117410
Gene ExpressionATP6V0B [ NCBI-GEO ]   ATP6V0B [ EBI - ARRAY_EXPRESS ]   ATP6V0B [ SEEK ]   ATP6V0B [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V0B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)533
GTEX Portal (Tissue expression)ATP6V0B
Human Protein AtlasENSG00000117410-ATP6V0B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99437   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99437  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99437
Splice isoforms : SwissVarQ99437
PhosPhoSitePlusQ99437
Domains : Interpro (EBI)ATPase_proteolipid_c-like_dom    ATPase_proteolipid_csu   
Domain families : Pfam (Sanger)ATP-synt_C (PF00137)   
Domain families : Pfam (NCBI)pfam00137   
Conserved Domain (NCBI)ATP6V0B
DMDM Disease mutations533
Blocks (Seattle)ATP6V0B
SuperfamilyQ99437
Human Protein Atlas [tissue]ENSG00000117410-ATP6V0B [tissue]
Peptide AtlasQ99437
HPRD04759
IPIIPI00015261   IPI00816164   IPI00975779   IPI00981895   IPI00719579   IPI00983891   IPI00981229   IPI00979399   
Protein Interaction databases
DIP (DOE-UCLA)Q99437
IntAct (EBI)Q99437
FunCoupENSG00000117410
BioGRIDATP6V0B
STRING (EMBL)ATP6V0B
ZODIACATP6V0B
Ontologies - Pathways
QuickGOQ99437
Ontology : AmiGOvacuolar proton-transporting V-type ATPase, V0 domain  transporter activity  vacuolar acidification  insulin receptor signaling pathway  endosome membrane  ATP hydrolysis coupled proton transport  proton transport  integral component of membrane  regulation of macroautophagy  phagocytic vesicle membrane  transferrin transport  ion transmembrane transport  proton-transporting ATPase activity, rotational mechanism  phagosome acidification  
Ontology : EGO-EBIvacuolar proton-transporting V-type ATPase, V0 domain  transporter activity  vacuolar acidification  insulin receptor signaling pathway  endosome membrane  ATP hydrolysis coupled proton transport  proton transport  integral component of membrane  regulation of macroautophagy  phagocytic vesicle membrane  transferrin transport  ion transmembrane transport  proton-transporting ATPase activity, rotational mechanism  phagosome acidification  
Pathways : KEGG   
NDEx NetworkATP6V0B
Atlas of Cancer Signalling NetworkATP6V0B
Wikipedia pathwaysATP6V0B
Orthology - Evolution
OrthoDB533
GeneTree (enSembl)ENSG00000117410
Phylogenetic Trees/Animal Genes : TreeFamATP6V0B
HOVERGENQ99437
HOGENOMQ99437
Homologs : HomoloGeneATP6V0B
Homology/Alignments : Family Browser (UCSC)ATP6V0B
Gene fusions - Rearrangements
Tumor Fusion PortalATP6V0B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V0B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V0B
dbVarATP6V0B
ClinVarATP6V0B
1000_GenomesATP6V0B 
Exome Variant ServerATP6V0B
ExAC (Exome Aggregation Consortium)ENSG00000117410
GNOMAD BrowserENSG00000117410
Genetic variants : HAPMAP533
Genomic Variants (DGV)ATP6V0B [DGVbeta]
DECIPHERATP6V0B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6V0B 
Mutations
ICGC Data PortalATP6V0B 
TCGA Data PortalATP6V0B 
Broad Tumor PortalATP6V0B
OASIS PortalATP6V0B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V0B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V0B
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 ATP6V0B
DgiDB (Drug Gene Interaction Database)ATP6V0B
DoCM (Curated mutations)ATP6V0B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V0B (select a term)
intoGenATP6V0B
Cancer3DATP6V0B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603717   
Orphanet
DisGeNETATP6V0B
MedgenATP6V0B
Genetic Testing Registry ATP6V0B
NextProtQ99437 [Medical]
TSGene533
GENETestsATP6V0B
Target ValidationATP6V0B
Huge Navigator ATP6V0B [HugePedia]
snp3D : Map Gene to Disease533
BioCentury BCIQATP6V0B
ClinGenATP6V0B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD533
Chemical/Pharm GKB GenePA25148
Clinical trialATP6V0B
Miscellaneous
canSAR (ICR)ATP6V0B (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V0B
EVEXATP6V0B
GoPubMedATP6V0B
iHOPATP6V0B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:04:15 CET 2017

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