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ATP6V1C2 (ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2)

Identity

Alias_namesATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2
ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2
ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
Alias_symbol (synonym)VMA5
ATP6C2
Other alias
HGNC (Hugo) ATP6V1C2
LocusID (NCBI) 245973
Atlas_Id 60643
Location 2p25.1  [Link to chromosome band 2p25]
Location_base_pair Starts at 10861775 and ends at 10925236 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATMIN (16q23.2) / ATP6V1C2 (2p25.1)ATP6V1C2 (2p25.1) / ATM (11q22.3)ATP6V1C2 (2p25.1) / ATP6V1C2 (2p25.1)
ATP6V1C2 (2p25.1) / EIF4A2 (3q27.3)ATP6V1C2 (2p25.1) / MDM4 (1q32.1)PDIA6 (2p25.1) / ATP6V1C2 (2p25.1)
RHOBTB1 (10q21.2) / ATP6V1C2 (2p25.1)SLC44A5 (1p31.1) / ATP6V1C2 (2p25.1)

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)ATP6V1C2   18264
Cards
Entrez_Gene (NCBI)ATP6V1C2  245973  ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
AliasesATP6C2; VMA5
GeneCards (Weizmann)ATP6V1C2
Ensembl hg19 (Hinxton)ENSG00000143882 [Gene_View]  chr2:10861775-10925236 [Contig_View]  ATP6V1C2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000143882 [Gene_View]  chr2:10861775-10925236 [Contig_View]  ATP6V1C2 [Vega]
ICGC DataPortalENSG00000143882
TCGA cBioPortalATP6V1C2
AceView (NCBI)ATP6V1C2
Genatlas (Paris)ATP6V1C2
WikiGenes245973
SOURCE (Princeton)ATP6V1C2
Genetics Home Reference (NIH)ATP6V1C2
Genomic and cartography
GoldenPath hg19 (UCSC)ATP6V1C2  -     chr2:10861775-10925236 +  2p25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP6V1C2  -     2p25.1   [Description]    (hg38-Dec_2013)
EnsemblATP6V1C2 - 2p25.1 [CytoView hg19]  ATP6V1C2 - 2p25.1 [CytoView hg38]
Mapping of homologs : NCBIATP6V1C2 [Mapview hg19]  ATP6V1C2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK127836 AK292952 AY039759 BC012142 BX358022
RefSeq transcript (Entrez)NM_001039362 NM_144583
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005334 NW_004929298
Consensus coding sequences : CCDS (NCBI)ATP6V1C2
Cluster EST : UnigeneHs.580464 [ NCBI ]
CGAP (NCI)Hs.580464
Alternative Splicing GalleryENSG00000143882
Gene ExpressionATP6V1C2 [ NCBI-GEO ]   ATP6V1C2 [ EBI - ARRAY_EXPRESS ]   ATP6V1C2 [ SEEK ]   ATP6V1C2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1C2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245973
GTEX Portal (Tissue expression)ATP6V1C2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NEY4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NEY4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NEY4
Splice isoforms : SwissVarQ8NEY4
PhosPhoSitePlusQ8NEY4
Domains : Interpro (EBI)ATPase_V1-cplx_csu   
Domain families : Pfam (Sanger)V-ATPase_C (PF03223)   
Domain families : Pfam (NCBI)pfam03223   
Conserved Domain (NCBI)ATP6V1C2
DMDM Disease mutations245973
Blocks (Seattle)ATP6V1C2
SuperfamilyQ8NEY4
Human Protein AtlasENSG00000143882
Peptide AtlasQ8NEY4
HPRD16523
IPIIPI00719217   IPI00302644   
Protein Interaction databases
DIP (DOE-UCLA)Q8NEY4
IntAct (EBI)Q8NEY4
FunCoupENSG00000143882
BioGRIDATP6V1C2
STRING (EMBL)ATP6V1C2
ZODIACATP6V1C2
Ontologies - Pathways
QuickGOQ8NEY4
Ontology : AmiGOprotein binding  lysosomal membrane  cytosol  cellular iron ion homeostasis  insulin receptor signaling pathway  hydrogen-exporting ATPase activity, phosphorylative mechanism  ATP hydrolysis coupled proton transport  positive regulation of Wnt signaling pathway  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  protein dimerization activity  interaction with host  transmembrane transport  extracellular exosome  phagosome maturation  
Ontology : EGO-EBIprotein binding  lysosomal membrane  cytosol  cellular iron ion homeostasis  insulin receptor signaling pathway  hydrogen-exporting ATPase activity, phosphorylative mechanism  ATP hydrolysis coupled proton transport  positive regulation of Wnt signaling pathway  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  protein dimerization activity  interaction with host  transmembrane transport  extracellular exosome  phagosome maturation  
Pathways : KEGGOxidative phosphorylation    Phagosome    Synaptic vesicle cycle    Collecting duct acid secretion    Vibrio cholerae infection    Epithelial cell signaling in Helicobacter pylori infection    Rheumatoid arthritis   
NDEx NetworkATP6V1C2
Atlas of Cancer Signalling NetworkATP6V1C2
Wikipedia pathwaysATP6V1C2
Orthology - Evolution
OrthoDB245973
GeneTree (enSembl)ENSG00000143882
Phylogenetic Trees/Animal Genes : TreeFamATP6V1C2
HOVERGENQ8NEY4
HOGENOMQ8NEY4
Homologs : HomoloGeneATP6V1C2
Homology/Alignments : Family Browser (UCSC)ATP6V1C2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1C2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1C2
dbVarATP6V1C2
ClinVarATP6V1C2
1000_GenomesATP6V1C2 
Exome Variant ServerATP6V1C2
ExAC (Exome Aggregation Consortium)ATP6V1C2 (select the gene name)
Genetic variants : HAPMAP245973
Genomic Variants (DGV)ATP6V1C2 [DGVbeta]
DECIPHER (Syndromes)2:10861775-10925236  ENSG00000143882
CONAN: Copy Number AnalysisATP6V1C2 
Mutations
ICGC Data PortalATP6V1C2 
TCGA Data PortalATP6V1C2 
Broad Tumor PortalATP6V1C2
OASIS PortalATP6V1C2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V1C2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V1C2
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 ATP6V1C2
DgiDB (Drug Gene Interaction Database)ATP6V1C2
DoCM (Curated mutations)ATP6V1C2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1C2 (select a term)
intoGenATP6V1C2
Cancer3DATP6V1C2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenATP6V1C2
Genetic Testing Registry ATP6V1C2
NextProtQ8NEY4 [Medical]
TSGene245973
GENETestsATP6V1C2
Huge Navigator ATP6V1C2 [HugePedia]
snp3D : Map Gene to Disease245973
BioCentury BCIQATP6V1C2
ClinGenATP6V1C2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD245973
Chemical/Pharm GKB GenePA38514
Clinical trialATP6V1C2
Miscellaneous
canSAR (ICR)ATP6V1C2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V1C2
EVEXATP6V1C2
GoPubMedATP6V1C2
iHOPATP6V1C2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 11:55:27 CET 2017

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