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ATP6V1E2 (ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2)

Identity

Alias_namesATP6EL2
ATP6V1EL2
ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2
ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2
ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2
Alias_symbol (synonym)MGC9341
VMA4
ATP6E1
Other alias
HGNC (Hugo) ATP6V1E2
LocusID (NCBI) 90423
Atlas_Id 60646
Location 2p21  [Link to chromosome band 2p21]
Location_base_pair Starts at 46738986 and ends at 46747096 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP6V1E2 (2p21) / GRIK1 (21q21.3)

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)ATP6V1E2   18125
Cards
Entrez_Gene (NCBI)ATP6V1E2  90423  ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2
AliasesATP6E1; ATP6EL2; ATP6V1EL2; VMA4
GeneCards (Weizmann)ATP6V1E2
Ensembl hg19 (Hinxton)ENSG00000250565 [Gene_View]  chr2:46738986-46747096 [Contig_View]  ATP6V1E2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000250565 [Gene_View]  chr2:46738986-46747096 [Contig_View]  ATP6V1E2 [Vega]
ICGC DataPortalENSG00000250565
TCGA cBioPortalATP6V1E2
AceView (NCBI)ATP6V1E2
Genatlas (Paris)ATP6V1E2
WikiGenes90423
SOURCE (Princeton)ATP6V1E2
Genetics Home Reference (NIH)ATP6V1E2
Genomic and cartography
GoldenPath hg19 (UCSC)ATP6V1E2  -     chr2:46738986-46747096 -  2p21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP6V1E2  -     2p21   [Description]    (hg38-Dec_2013)
EnsemblATP6V1E2 - 2p21 [CytoView hg19]  ATP6V1E2 - 2p21 [CytoView hg38]
Mapping of homologs : NCBIATP6V1E2 [Mapview hg19]  ATP6V1E2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB074759 AK058055 BC008981 BC034808 BG717423
RefSeq transcript (Entrez)NM_080653
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)ATP6V1E2
Cluster EST : UnigeneHs.659656 [ NCBI ]
CGAP (NCI)Hs.659656
Alternative Splicing GalleryENSG00000250565
Gene ExpressionATP6V1E2 [ NCBI-GEO ]   ATP6V1E2 [ EBI - ARRAY_EXPRESS ]   ATP6V1E2 [ SEEK ]   ATP6V1E2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1E2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90423
GTEX Portal (Tissue expression)ATP6V1E2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96A05   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96A05  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96A05
Splice isoforms : SwissVarQ96A05
PhosPhoSitePlusQ96A05
Domains : Interpro (EBI)ATPase_V1/A1-cplx_esu   
Domain families : Pfam (Sanger)vATP-synt_E (PF01991)   
Domain families : Pfam (NCBI)pfam01991   
Conserved Domain (NCBI)ATP6V1E2
DMDM Disease mutations90423
Blocks (Seattle)ATP6V1E2
SuperfamilyQ96A05
Human Protein AtlasENSG00000250565
Peptide AtlasQ96A05
HPRD16525
IPIIPI00059139   
Protein Interaction databases
DIP (DOE-UCLA)Q96A05
IntAct (EBI)Q96A05
FunCoupENSG00000250565
BioGRIDATP6V1E2
STRING (EMBL)ATP6V1E2
ZODIACATP6V1E2
Ontologies - Pathways
QuickGOQ96A05
Ontology : AmiGOacrosomal vesicle  protein binding  cytosol  cellular iron ion homeostasis  insulin receptor signaling pathway  hydrogen-exporting ATPase activity, phosphorylative mechanism  ATP hydrolysis coupled proton transport  proton-transporting two-sector ATPase complex, catalytic domain  transferrin transport  ion transmembrane transport  proton-transporting ATPase activity, rotational mechanism  interaction with host  transmembrane transport  phagosome maturation  
Ontology : EGO-EBIacrosomal vesicle  protein binding  cytosol  cellular iron ion homeostasis  insulin receptor signaling pathway  hydrogen-exporting ATPase activity, phosphorylative mechanism  ATP hydrolysis coupled proton transport  proton-transporting two-sector ATPase complex, catalytic domain  transferrin transport  ion transmembrane transport  proton-transporting ATPase activity, rotational mechanism  interaction with host  transmembrane transport  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 NetworkATP6V1E2
Atlas of Cancer Signalling NetworkATP6V1E2
Wikipedia pathwaysATP6V1E2
Orthology - Evolution
OrthoDB90423
GeneTree (enSembl)ENSG00000250565
Phylogenetic Trees/Animal Genes : TreeFamATP6V1E2
HOVERGENQ96A05
HOGENOMQ96A05
Homologs : HomoloGeneATP6V1E2
Homology/Alignments : Family Browser (UCSC)ATP6V1E2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1E2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1E2
dbVarATP6V1E2
ClinVarATP6V1E2
1000_GenomesATP6V1E2 
Exome Variant ServerATP6V1E2
ExAC (Exome Aggregation Consortium)ATP6V1E2 (select the gene name)
Genetic variants : HAPMAP90423
Genomic Variants (DGV)ATP6V1E2 [DGVbeta]
DECIPHER (Syndromes)2:46738986-46747096  ENSG00000250565
CONAN: Copy Number AnalysisATP6V1E2 
Mutations
ICGC Data PortalATP6V1E2 
TCGA Data PortalATP6V1E2 
Broad Tumor PortalATP6V1E2
OASIS PortalATP6V1E2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V1E2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V1E2
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 ATP6V1E2
DgiDB (Drug Gene Interaction Database)ATP6V1E2
DoCM (Curated mutations)ATP6V1E2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1E2 (select a term)
intoGenATP6V1E2
Cancer3DATP6V1E2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenATP6V1E2
Genetic Testing Registry ATP6V1E2
NextProtQ96A05 [Medical]
TSGene90423
GENETestsATP6V1E2
Huge Navigator ATP6V1E2 [HugePedia]
snp3D : Map Gene to Disease90423
BioCentury BCIQATP6V1E2
ClinGenATP6V1E2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90423
Chemical/Pharm GKB GenePA25159
Clinical trialATP6V1E2
Miscellaneous
canSAR (ICR)ATP6V1E2 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V1E2
EVEXATP6V1E2
GoPubMedATP6V1E2
iHOPATP6V1E2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:55:27 CET 2017

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