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ATP6V1E2 Gene

protein-coding   GIFtS: 53
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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 4

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   
ORGUL members:    fRNAdb10:FR032301      
H-InvDB12:HIT000067164    
NCBI13:AF086285    
NONCODE14:n332904    
RNAdb15:HIV2412    

Export aliases for ATP6V1E2 gene to outside databases

Previous GC identifers: GC02M046756 GC02M046907 GC02M046713 GC02M046650 GC02M046592 GC02M046738 GC02M046476


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

fRNAdb sequence ontology for ATP6V1E2:
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for ATP6V1E2

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for ATP6V1E2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATP6V1E2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_542384.1  
    ENSEMBL proteins: 
     ENSP00000304891   ENSP00000428141  
    Reactome Protein details: Q96A05

    ATP6V1E2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP6V1E2
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    miRNA
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    miRTarBase miRNAs that target ATP6V1E2:
    hsa-mir-3200-3p (MIRT052816)

    Block miRNA regulation of human, mouse, rat ATP6V1E2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ATP6V1E2:
    hsa-miR-4303
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1E2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    peroxisome2
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP6V1E2 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.74
    Collecting duct acid secretion0.66
    Transferrin endocytosis and recycling0.74
    Vibrio cholerae infection0.40
    Iron uptake and transport0.70
    Epithelial cell signaling in Helicobacter pylori infection0.32
    2Insulin receptor signalling cascade
    Signaling by Insulin receptor0.80
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4Signaling by GPCR
    Signal Transduction0.58
    5Synaptic vesicle cycle
    Synaptic vesicle cycle0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for ATP6V1E2
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


    Selected 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

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP6V1E2: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP6V1E2

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

    Selected Interacting proteins for ATP6V1E2 (Q96A053 ENSP000003048914) via UniProtKB, MINT, STRING, and/or I2D (see all 91)
    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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    1 fRNAdb Secondary structure:


    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
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate ATP6V1E2:
    hsa-miR-4303
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1E2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat ATP6V1E2

    Additional mRNA sequence: 

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

    5 DOTS entries:

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

    Selected AceView cDNA sequences (see all 41):

    BC008981 AK058055 AA383083 CR601460 BM714395 AW269835 CR622607 AB074759 
    NM_080653 BM903837 CD359864 AK123751 BI830720 BE503852 BU737931 W69587 
    BQ635944 BQ896029 BE545017 AW008872 AI002306 CD671694 AI127410 BE327389 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
     
     Testis (Reproductive System)
    ATP6V1E2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V1E2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.659656

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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V1E2 gene from Selected species (see all 17)    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
    Gallus gallus ATPase, H+ transporting, lysosomal 3...
    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 atp6v1e1b6
    si:ch211-266k8.36
    si:ch211-266k8.3
    67(a)
    67(a)
    many ↔ many
    many ↔ many
    4(5113375-5120584) ENSDARG00000030694
    25(16958895-16970968) ENSDARG00000014085
    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 (vha-8) mRNA, complete cds
    56(a)
    1 → many
    IV(6791074-6792461) WBGene00006917
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA46
    Subunit E of the eight-subunit V1 peripheral membr...
    35(a)
    1 → many
    XV(943656-944357) YOR332W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TUF1 TUF 51.53(n)
    44.5(a)
      826716  NM_117185.4  NP_192853.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g06592001 Os01g0659200 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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP6V1E2 (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

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM information: 600666 606415 607329 609402    
    5 diseases for ATP6V1E2:    About MalaCards
    osteopetrosis    cholera    tuberculosis    rheumatoid arthritis
    arthritis


    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)
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    PubMed articles for ATP6V1E2 gene, integrated from 10 sources (see all 17):
    (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. (Gene 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. (Nature 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. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation. (PubMed id 17662945)1 Adachi K....Kinosita K. (Cell 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. (Genomics 2007)
    8. Neurotransmitter release: the dark side of the vacuolar-H+ATPase. (PubMed id 14597263)1 Morel N. (Biol. Cell 2003)
    9. Proton translocation driven by ATP hydrolysis in V-ATPases. (PubMed id 12788495)1 Kawasaki-Nishi S....Forgac M. (FEBS Lett. 2003)
    10. Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PubMed id 14580332)1 Smith A.N....Karet F.E. (Mol. Cell 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 90423 HGNC: 18125 AceView: ATP6V1E2 Ensembl:ENSG00000250565 euGenes: HUgn90423
    ECgene: ATP6V1E2 Kegg: 90423 H-InvDB: ATP6V1E2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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