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ATP6V1C2 (ATPase H+ transporting V1 subunit C2)

Identity

Alias (NCBI)ATP6C2
VMA5
HGNC (Hugo) ATP6V1C2
HGNC Alias symbVMA5
ATP6C2
HGNC Previous nameATPase, 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
LocusID (NCBI) 245973
Atlas_Id 60643
Location 2p25.1  [Link to chromosome band 2p25]
Location_base_pair Starts at 10721630 and ends at 10785110 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)
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    ATPase H+ transporting V1 subunit C2
AliasesATP6C2; VMA5
GeneCards (Weizmann)ATP6V1C2
Ensembl hg19 (Hinxton)ENSG00000143882 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143882 [Gene_View]  ENSG00000143882 [Sequence]  chr2:10721630-10785110 [Contig_View]  ATP6V1C2 [Vega]
ICGC DataPortalENSG00000143882
TCGA cBioPortalATP6V1C2
AceView (NCBI)ATP6V1C2
Genatlas (Paris)ATP6V1C2
SOURCE (Princeton)ATP6V1C2
Genetics Home Reference (NIH)ATP6V1C2
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V1C2  -     chr2:10721630-10785110 +  2p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V1C2  -     2p25.1   [Description]    (hg19-Feb_2009)
GoldenPathATP6V1C2 - 2p25.1 [CytoView hg19]  ATP6V1C2 - 2p25.1 [CytoView hg38]
ImmunoBaseENSG00000143882
Genome Data Viewer NCBIATP6V1C2 [Mapview hg19]  
OMIM618070   
Gene and transcription
Genbank (Entrez)AK127836 AK292952 AY039759 BC012142 BX358022
RefSeq transcript (Entrez)NM_001039362 NM_144583
Consensus coding sequences : CCDS (NCBI)ATP6V1C2
Gene ExpressionATP6V1C2 [ NCBI-GEO ]   ATP6V1C2 [ EBI - ARRAY_EXPRESS ]   ATP6V1C2 [ SEEK ]   ATP6V1C2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1C2 [ Firebrowse - Broad ]
GenevisibleExpression of ATP6V1C2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)245973
GTEX Portal (Tissue expression)ATP6V1C2
Human Protein AtlasENSG00000143882-ATP6V1C2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8NEY4
Domains : Interpro (EBI)ATPase_V1-cplx_csu    Vac_ATP_synth_c_sf   
Domain families : Pfam (Sanger)V-ATPase_C (PF03223)   
Domain families : Pfam (NCBI)pfam03223   
Conserved Domain (NCBI)ATP6V1C2
SuperfamilyQ8NEY4
AlphaFold pdb e-kbQ8NEY4   
Human Protein Atlas [tissue]ENSG00000143882-ATP6V1C2 [tissue]
HPRD16523
Protein Interaction databases
DIP (DOE-UCLA)Q8NEY4
IntAct (EBI)Q8NEY4
BioGRIDATP6V1C2
STRING (EMBL)ATP6V1C2
ZODIACATP6V1C2
Ontologies - Pathways
QuickGOQ8NEY4
Ontology : AmiGOvacuolar proton-transporting V-type ATPase, V1 domain  lysosomal membrane  cytosol  insulin receptor signaling pathway  regulation of macroautophagy  positive regulation of Wnt signaling pathway  transferrin transport  cellular response to amino acid starvation  ion transmembrane transport  identical protein binding  proton-transporting ATPase activity, rotational mechanism  extracellular exosome  phagosome acidification  proton transmembrane transport  
Ontology : EGO-EBIvacuolar proton-transporting V-type ATPase, V1 domain  lysosomal membrane  cytosol  insulin receptor signaling pathway  regulation of macroautophagy  positive regulation of Wnt signaling pathway  transferrin transport  cellular response to amino acid starvation  ion transmembrane transport  identical protein binding  proton-transporting ATPase activity, rotational mechanism  extracellular exosome  phagosome acidification  proton transmembrane transport  
Pathways : KEGGATP synthesis    Oxidative phosphorylation    Epithelial cell signaling in Helicobacter pylori infection   
NDEx NetworkATP6V1C2
Atlas of Cancer Signalling NetworkATP6V1C2
Wikipedia pathwaysATP6V1C2
Orthology - Evolution
OrthoDB245973
GeneTree (enSembl)ENSG00000143882
Phylogenetic Trees/Animal Genes : TreeFamATP6V1C2
Homologs : HomoloGeneATP6V1C2
Homology/Alignments : Family Browser (UCSC)ATP6V1C2
Gene fusions - Rearrangements
Fusion : QuiverATP6V1C2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1C2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1C2
dbVarATP6V1C2
ClinVarATP6V1C2
MonarchATP6V1C2
1000_GenomesATP6V1C2 
Exome Variant ServerATP6V1C2
GNOMAD BrowserENSG00000143882
Varsome BrowserATP6V1C2
ACMGATP6V1C2 variants
VarityQ8NEY4
Genomic Variants (DGV)ATP6V1C2 [DGVbeta]
DECIPHERATP6V1C2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DATP6V1C2
Mutations and Diseases : HGMDATP6V1C2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaATP6V1C2
DgiDB (Drug Gene Interaction Database)ATP6V1C2
DoCM (Curated mutations)ATP6V1C2
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1C2
Cancer3DATP6V1C2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618070   
Orphanet
DisGeNETATP6V1C2
MedgenATP6V1C2
Genetic Testing Registry ATP6V1C2
NextProtQ8NEY4 [Medical]
GENETestsATP6V1C2
Target ValidationATP6V1C2
Huge Navigator ATP6V1C2 [HugePedia]
ClinGenATP6V1C2
Clinical trials, drugs, therapy
MyCancerGenomeATP6V1C2
Protein Interactions : CTDATP6V1C2
Pharm GKB GenePA38514
PharosQ8NEY4
Clinical trialATP6V1C2
Miscellaneous
canSAR (ICR)ATP6V1C2
HarmonizomeATP6V1C2
DataMed IndexATP6V1C2
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATP6V1C2
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 15:42:59 CEST 2021

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