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ATP6V1G2 (ATPase H+ transporting V1 subunit G2)

Identity

Alias_namesATP6G
ATP6G2
ATPase, H+ transporting, lysosomal (vacuolar proton pump)
ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2
ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
Alias_symbol (synonym)Vma10
NG38
Em:AC004181.3
Other aliasVMA10
HGNC (Hugo) ATP6V1G2
LocusID (NCBI) 534
Atlas_Id 60648
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 31544451 and ends at 31546848 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)

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)ATP6V1G2   862
Cards
Entrez_Gene (NCBI)ATP6V1G2  534  ATPase H+ transporting V1 subunit G2
AliasesATP6G; ATP6G2; NG38; VMA10
GeneCards (Weizmann)ATP6V1G2
Ensembl hg19 (Hinxton)ENSG00000213760 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000213760 [Gene_View]  ENSG00000213760 [Sequence]  chr6:31544451-31546848 [Contig_View]  ATP6V1G2 [Vega]
ICGC DataPortalENSG00000213760
TCGA cBioPortalATP6V1G2
AceView (NCBI)ATP6V1G2
Genatlas (Paris)ATP6V1G2
WikiGenes534
SOURCE (Princeton)ATP6V1G2
Genetics Home Reference (NIH)ATP6V1G2
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V1G2  -     chr6:31544451-31546848 -  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V1G2  -     6p21.33   [Description]    (hg19-Feb_2009)
GoldenPathATP6V1G2 - 6p21.33 [CytoView hg19]  ATP6V1G2 - 6p21.33 [CytoView hg38]
ImmunoBaseENSG00000213760
Mapping of homologs : NCBIATP6V1G2 [Mapview hg19]  ATP6V1G2 [Mapview hg38]
OMIM606853   
Gene and transcription
Genbank (Entrez)AA401769 BC047791 BC068023 BC119726 BC119727
RefSeq transcript (Entrez)NM_001204078 NM_130463 NM_138282
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_012344 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)ATP6V1G2
Cluster EST : UnigeneHs.249227 [ NCBI ]
CGAP (NCI)Hs.249227
Alternative Splicing GalleryENSG00000213760
Gene ExpressionATP6V1G2 [ NCBI-GEO ]   ATP6V1G2 [ EBI - ARRAY_EXPRESS ]   ATP6V1G2 [ SEEK ]   ATP6V1G2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1G2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)534
GTEX Portal (Tissue expression)ATP6V1G2
Human Protein AtlasENSG00000213760-ATP6V1G2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95670   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95670  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95670
Splice isoforms : SwissVarO95670
PhosPhoSitePlusO95670
Domains : Interpro (EBI)V-ATPase_G   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ATP6V1G2
DMDM Disease mutations534
Blocks (Seattle)ATP6V1G2
SuperfamilyO95670
Human Protein Atlas [tissue]ENSG00000213760-ATP6V1G2 [tissue]
Peptide AtlasO95670
HPRD06030
IPIIPI00032147   IPI01021646   IPI00552247   IPI00945265   IPI00945718   IPI00944914   IPI00945089   IPI00432760   
Protein Interaction databases
DIP (DOE-UCLA)O95670
IntAct (EBI)O95670
FunCoupENSG00000213760
BioGRIDATP6V1G2
STRING (EMBL)ATP6V1G2
ZODIACATP6V1G2
Ontologies - Pathways
QuickGOO95670
Ontology : AmiGOcytosol  insulin receptor signaling pathway  proton transport  regulation of macroautophagy  vacuolar proton-transporting V-type ATPase complex  hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances  transferrin transport  ion transmembrane transport  melanosome  phagosome acidification  
Ontology : EGO-EBIcytosol  insulin receptor signaling pathway  proton transport  regulation of macroautophagy  vacuolar proton-transporting V-type ATPase complex  hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances  transferrin transport  ion transmembrane transport  melanosome  phagosome acidification  
Pathways : KEGGOxidative phosphorylation    Epithelial cell signaling in Helicobacter pylori infection    ATP synthesis   
NDEx NetworkATP6V1G2
Atlas of Cancer Signalling NetworkATP6V1G2
Wikipedia pathwaysATP6V1G2
Orthology - Evolution
OrthoDB534
GeneTree (enSembl)ENSG00000213760
Phylogenetic Trees/Animal Genes : TreeFamATP6V1G2
HOGENOMO95670
Homologs : HomoloGeneATP6V1G2
Homology/Alignments : Family Browser (UCSC)ATP6V1G2
Gene fusions - Rearrangements
Fusion : QuiverATP6V1G2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1G2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1G2
dbVarATP6V1G2
ClinVarATP6V1G2
1000_GenomesATP6V1G2 
Exome Variant ServerATP6V1G2
ExAC (Exome Aggregation Consortium)ENSG00000213760
GNOMAD BrowserENSG00000213760
Varsome BrowserATP6V1G2
Genetic variants : HAPMAP534
Genomic Variants (DGV)ATP6V1G2 [DGVbeta]
DECIPHERATP6V1G2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6V1G2 
Mutations
ICGC Data PortalATP6V1G2 
TCGA Data PortalATP6V1G2 
Broad Tumor PortalATP6V1G2
OASIS PortalATP6V1G2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V1G2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V1G2
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 ATP6V1G2
DgiDB (Drug Gene Interaction Database)ATP6V1G2
DoCM (Curated mutations)ATP6V1G2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1G2 (select a term)
intoGenATP6V1G2
Cancer3DATP6V1G2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606853   
Orphanet
DisGeNETATP6V1G2
MedgenATP6V1G2
Genetic Testing Registry ATP6V1G2
NextProtO95670 [Medical]
TSGene534
GENETestsATP6V1G2
Target ValidationATP6V1G2
Huge Navigator ATP6V1G2 [HugePedia]
snp3D : Map Gene to Disease534
BioCentury BCIQATP6V1G2
ClinGenATP6V1G2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD534
Chemical/Pharm GKB GenePA25164
Clinical trialATP6V1G2
Miscellaneous
canSAR (ICR)ATP6V1G2 (select the gene name)
DataMed IndexATP6V1G2
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V1G2
EVEXATP6V1G2
GoPubMedATP6V1G2
iHOPATP6V1G2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 7 17:11:26 CEST 2019
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