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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP6V1E2 Gene

protein-coding   GIFtS: 52
GCID: GC02M046717

ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E2

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: ATP6EL2, ATP6V1EL2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E21 2     ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 31kD-Like 21
ATP6EL21 2 3     ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E Isoform 21
ATP6V1EL21 2 3     VMA42
Vacuolar Proton Pump Subunit E 22 3     V-Type Proton ATPase Subunit E 22
ATP6E12 3     Vacuolar-Type Proton-Translocating ATPase Subunit E12
V-ATPase Subunit E 22 3     

External Ids:    HGNC: 181251   Entrez Gene: 904232   Ensembl: ENSG000002505657   UniProtKB: Q96A053   

Export aliases for ATP6V1E2 gene to outside databases

Previous GC identifers: GC02M046756 GC02M046907 GC02M046713 GC02M046650 GC02M046592 GC02M046738 GC02M046476


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ATP6V1E2 Gene: 
ATP6V1E2 (ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2) is a protein-coding gene. Diseases associated with ATP6V1E2 include osteopetrosis, and cholera, and among its related super-pathways are Insulin receptor recycling and Insulin receptor signalling cascade. GO annotations related to this gene include hydrogen-exporting ATPase activity, phosphorylative mechanism and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V1E1.

UniProtKB/Swiss-Prot: VATE2_HUMAN, Q96A05
Function: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function.
V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform
is essential for energy coupling involved in acidification of acrosome (By similarity)

summary for ATP6V1E2 Gene:
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify
intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane
organelles such as vacuoles, lysosomes, endosomes, the Golgi apparatus, chromaffin granules and coated
vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains.
The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation.
There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles
to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These
transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation
and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause
recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of
sperm motility and maturation.

Gene Wiki entry for ATP6V1E2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V1E2 gene promoter:
         Elk-1   AML1a   SREBP-1c   LUN-1   RORalpha2   SREBP-1b   c-Ets-1   SREBP-1a   c-Myb   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1E2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V1E2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V1E2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p21

ATP6V1E2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1E2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M046717:  view genomic region     (about GC identifiers)

Start:
46,717,889 bp from pter      End:
46,769,696 bp from pter
Size:
51,808 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VATE2_HUMAN, Q96A05 (See protein sequence)
Recommended Name: V-type proton ATPase subunit E 2  
Size: 226 amino acids; 26074 Da
Subunit: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H)
attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d)

Explore the universe of human proteins at neXtProt for ATP6V1E2: NX_Q96A05

Explore proteomics data for ATP6V1E2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96A05

  • ATP6V1E2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP6V1E2 Protein Expression
    REFSEQ proteins: NP_542384.1  
    ENSEMBL proteins: 
     ENSP00000304891   ENSP00000428141  
    Reactome Protein details: Q96A05
    Human Recombinant Protein Products for ATP6V1E2: 
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    Cloud-Clone Corp. Proteins for ATP6V1E2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005829cytosol TAS--
    GO:0033178proton-transporting two-sector ATPase complex, catalytic domain IEA--

    ATP6V1E2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    VATP: ATPases / V-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: E2 
    V-type ATPase

    1 InterPro protein domain:
     IPR002842 ATPase_V1/A1-cplx_esu

    Graphical View of Domain Structure for InterPro Entry Q96A05

    ProtoNet protein and cluster: Q96A05

    1 Blocks protein domain: IPB002842 H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: VATE2_HUMAN, Q96A05
    Similarity: Belongs to the V-ATPase E subunit family


    ATP6V1E2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VATE2_HUMAN, Q96A05
    Function: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function.
    V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform
    is essential for energy coupling involved in acidification of acrosome (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008553hydrogen-exporting ATPase activity, phosphorylative mechanism IEA--
    GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--
         
    ATP6V1E2 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP6V1E2 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.79
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    Transferrin endocytosis and recycling0.79
    Phagosomal maturation (early endosomal stage)0.64
    Iron uptake and transport0.69
    Vibrio cholerae infection0.41
    Collecting duct acid secretion0.68
    Epithelial cell signaling in Helicobacter pylori infection0.33
    2IRS-related events
    Signaling by Insulin receptor0.79
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4Signaling by GPCR
    Signal Transduction0.55
    5SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/9        Reactome Pathways for ATP6V1E2 (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/8         Kegg Pathways  (Kegg details for ATP6V1E2) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion


    ATP6V1E2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1E2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/62 Interacting proteins for ATP6V1E2 (Q96A053 ENSP000003048914) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V1G1O753483, ENSP000003631624I2D: score=1 STRING: ENSP00000363162
    ATP6V0BENSP000002360674STRING: ENSP00000236067
    ATP6V0CENSP000003297574STRING: ENSP00000329757
    ATP6V0D1ENSP000002909494STRING: ENSP00000290949
    ATP6V0D2ENSP000002853934STRING: ENSP00000285393
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0033572transferrin transport TAS--
    GO:0051701interaction with host TAS--

    ATP6V1E2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ATP6V1E2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP6V1E2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Bafilomycin A1H+-ATPase (vacuolar) inhibitor[88899-55-2]
    Concanamycin AH+-ATPase (vacuolar) inhibitor[80890-47-7]
    DisulfiramReversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities[97-77-8]

    4 HMDB Compounds for ATP6V1E2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about ATP6V1E2 / VATE2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP6V1E2 gene: 
    NM_080653.3  

    Unigene Cluster for ATP6V1E2:

    ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2
    Hs.659656  [show with all ESTs]
    Unigene Representative Sequence: NM_080653
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000524249 ENST00000306448(uc002ruy.3) ENST00000522587 ENST00000524188
    ENST00000505245(uc021vgw.1) ENST00000522219
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    Additional mRNA sequence: 

    AB074759.1 AK058055.1 BC008981.1 BC034808.1 

    5 DOTS entries:

    DT.92028294  DT.100698585  DT.121105284  DT.121466852  DT.95206573 

    24/41 AceView cDNA sequences (see all 41):

    AW269835 NM_080653 AB074759 AK058055 CR601460 BM903837 BC008981 CR622607 
    AA383083 BM714395 CD359864 AW008872 AK123751 AI127410 BF431178 CD671694 
    BE503852 AF086285 BM700211 AI002306 AL135034 AI200947 W69587 BC034808 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP6V1E2 expression in normal human tissues (normalized intensities)      ATP6V1E2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAGGTCCA
    ATP6V1E2 Expression
    About this image


    ATP6V1E2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)
             sperm   
     
     Blood (Hematopoietic System)
             cd49a+ cells   
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate

    See ATP6V1E2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1E2

    SOURCE GeneReport for Unigene cluster: Hs.659656

    UniProtKB/Swiss-Prot: VATE2_HUMAN, Q96A05
    Tissue specificity: Testis specific

        SABiosciences Expression via Pathway-Focused PCR Array including ATP6V1E2: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1E2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V1E2 gene from 10/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1e21 , 5 ATPase, H+ transporting, lysosomal V1 subunit E21, 5 80.74(n)1
    79.11(a)1
      17 (56.90 cM)5
    749151  NM_029121.31  NP_083397.31 
     869441095 
    chicken
    (Gallus gallus)
    Aves ATP6V1E16
    V-type proton ATPase subunit E 1
    73(a)
    1 → many
    1(61931083-61940679)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    74(a)
    1 → many
    5(14007255-14021280)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC643322 hypothetical protein MGC64332 76.66(n)    BC041736.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-266k8.36
    atp6v1e1b6
    si:ch211-266k8.3
    ATPase, H+ transporting, lysosomal, V1 subunit E i...
    67(a)
    67(a)
    many ↔ many
    many ↔ many
    25(16958895-16970968)
    4(5113375-5120584)
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha266
    Vacuolar H[+]-ATPase 26kD E subunit
    61(a)
    1 → many
    3R(1417485-1420421)
    worm
    (Caenorhabditis elegans)
    Secernentea vha-86
    Protein VHA-8
    56(a)
    1 → many
    IV(6791072-6792461)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA46
    Subunit E of the eight-subunit V1 peripheral membr...
    34(a)
    1 → many
    XV(943656-944357)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TUF1 V-type proton ATPase subunit E1 51.53(n)
    44.5(a)
      826716  NM_117185.4  NP_192853.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g06592001 hypothetical protein 51.99(n)
    44.95(a)
      4327166  NM_001050302.1  NP_001043767.1 


    ENSEMBL Gene Tree for ATP6V1E2 (if available)
    TreeFam Gene Tree for ATP6V1E2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP6V1E2 gene
    ATP6V1E12  
    1 SIMAP similar gene for ATP6V1E2 using alignment to 1 protein entry:     VATE2_HUMAN:
    ATP6V1E1

    ATP6V1E2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/302 SNPs in ATP6V1E2 are shown (see all 302)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1142785951,2
    F--46738624(+) GTTGAA/CATTAG 1 -- ds50011Minor allele frequency- C:0.03NA 120
    rs1396705311,2
    --46738672(+) GGTGCA/GGGGCC 1 -- ds50010--------
    rs1129594391,2
    C--46738686(+) TGAGCA/-TTGGC 1 -- ds50011Minor allele frequency- -:0.00CSA 2
    rs591596721,2
    C--46738687(+) TGAGCA/TTGGCC 1 -- ds50012Minor allele frequency- T:0.00NA 4
    rs678158571,2
    C--46738687(+) GAGCT-/ATGGCC 1 -- ds50010--------
    rs1142120421,2
    C--46738688(+) GAGCTG/TGGCCC 1 -- ds50010--------
    rs1428876761,2
    C--46738752(+) AAGATC/TTCTAG 1 -- ds50010--------
    rs1861754941,2
    --46738791(+) CTGAAA/GCTGAA 1 -- ds50010--------
    rs1510602061,2
    C--46738830(+) ATTAAA/TCTAGA 1 -- ds50010--------
    rs124705321,2
    C,F,H--46738846(+) CAGATT/CCACAG 1 -- ds500128Minor allele frequency- C:0.44NS EA NA WA CSA 2768

    HapMap Linkage Disequilibrium report for ATP6V1E2 (46717889 - 46769696 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ATP6V1E2:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv149e55CNV Loss17911159
    nsv9702CNV Loss18304495
    nsv437435CNV Loss16327808
    nsv817828CNV Loss17921354
    nsv873996CNV Gain21882294
    essv19828CNV CNV17122850
    essv21584CNV CNV17122850
    dgv1181e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    5 diseases for ATP6V1E2:    About MalaCards
    osteopetrosis    cholera    rheumatoid arthritis    arthritis
    tuberculosis


    ATP6V1E2 for disorders           About GeneDecksing


    Export disorders for ATP6V1E2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP6V1E2 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with ATP6V1E2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human gene, ATP6E1, encoding a testis-specific isoform of H(+)- ATPase subunit E. (PubMed id 12036578)1, 2, 3 Imai-Senga Y.... Futai M. (2002)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Coupling of rotation and catalysis in F(1)-ATPase rev ealed by single-molecule imaging and manipulation. (PubMed id 17662945)1 Adachi K....Kinosita K. (2007)
    7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    8. Neurotransmitter release: the dark side of the vacuolar-H+ATPase. (PubMed id 14597263)1 Morel N. (2003)
    9. Proton translocation driven by ATP hydrolysis in V-ATPases. (PubMed id 12788495)1 Kawasaki-Nishi S....Forgac M. (2003)
    10. Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PubMed id 14580332)1 Smith A.N....Karet F.E. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 90423 HGNC: 18125 AceView: ATP6V1E2 Ensembl:ENSG00000250565 euGenes: HUgn90423
    ECgene: ATP6V1E2 Kegg: 90423 H-InvDB: ATP6V1E2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP6V1E2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP6V1E2 gene:
    Search GeneIP for patents involving ATP6V1E2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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