Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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)
 Explore 6 diseases affiliated with
ATP6V1E2 via our new
 Human Malady Compendium 
Biological research products
for ATP6V1E2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E21 2     V-ATPase Subunit E 22 3
ATP6E11 2 3     MGC93411
ATP6EL21 2 3     ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 31kD-Like 21
ATP6V1EL21 2 3     ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E Isoform 21
VMA41 2     V-Type Proton ATPase Subunit E 22
Vacuolar Proton Pump Subunit E 22 3     Vacuolar-Type Proton-Translocating ATPase Subunit E12

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

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:
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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96A05

  • ATP6V1E2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_542384.1  
    ENSEMBL proteins: 
     ENSP00000304891   ENSP00000428141  
    Reactome Protein details: Q96A05
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: ATP6V1E2
    OriGene Custom Protein Services for ATP6V1E2 
    GenScript Custom Purified and Recombinant Proteins Services for ATP6V1E2
    Novus Biologicals ATP6V1E2 Proteins
    Novus Biologicals ATP6V1E2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    ATP6V1E2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ATP6V1E2 
    GenScript Custom Superior Antibodies Services for ATP6V1E2
    Novus Biologicals ATP6V1E2 Antibodies
    Search for Antibodies for ATP6V1E2 at Abcam  
    Uscn Antibodies for ATP6V1E2
    ThermoFisher Antibodies for ATP6V1E2

    Assay Products for ATP6V1E2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ATP6V1E2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ATP6V1E2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ATP6V1E2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002842 ATPase_V1/A1-cplx_esu

    Graphical View of Domain Structure for InterPro Entry Q96A05

    ProtoNet protein and cluster: Q96A05

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

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

    miRNA
    Products:
        
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATP6V1E2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ATP6V1E2:
    hsa-miR-4303
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1E2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP6V1E2 (see all 7)
    OriGene shRNA RFP: ATP6V1E2
    OriGene siRNA: ATP6V1E2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1E2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATP6V1E2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V1E2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V1E2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ATP6V1E2 (NM_080653)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP6V1E2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1E2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ATP6V1E2
    Search LifeMap BioReagents cell lines for ATP6V1E2

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1E2

    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



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Insulin receptor recycling
    Insulin receptor recycling1.00
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    Transferrin endocytosis and recycling0.79
    Iron uptake and transport0.56
    Collecting duct acid secretion0.68
    Vibrio cholerae infection0.41
    Phagosomal maturation (early endosomal stage)0.64
    Epithelial cell signaling in Helicobacter pylori infection0.33
    2Disease
    Disease1.00
    3Rheumatoid arthritis
    Rheumatoid arthritis1.00
    4Phagosome
    Phagosome1.00
    5IRS-related events
    Signaling by Insulin receptor0.74

    Pathway sources
    See GeneCards unified pathways
    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


    5/7         Kegg Pathways  (Kegg details for ATP6V1E2) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Collecting duct acid secretion
    Vibrio cholerae infection


    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, 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]

    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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

    miRNA
    Products:
         
    Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATP6V1E2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ATP6V1E2:
    hsa-miR-4303
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1E2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP6V1E2 (see all 7)
    OriGene shRNA RFP: ATP6V1E2
    OriGene siRNA: ATP6V1E2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1E2
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V1E2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V1E2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ATP6V1E2 (NM_080653)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP6V1E2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1E2 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP6V1E2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATP6V1E2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1E2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V1E2

    Additional cDNA 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):

    BM714395 AB074759 AA383083 NM_080653 BC008981 AK058055 CR601460 BM903837 
    AW269835 CR622607 AF086285 CD671694 BQ896029 BU737931 CD359864 BI830720 
    BE327389 AW008872 BF993647 BQ635944 AI127410 BE545017 BG332806 AI200947 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGAGGTCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP6V1E2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATP6V1E2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1E2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V1E2
    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 9/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves Q5ZKJ9_CHICK6
    vacuolar H+ ATPase E1
    73(a)
    1 → many
    1(63935883-63945501)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    74(a)
    1 → many
    5(14009609-14021280)
    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)
    25(16958895-16970968)
    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
    Vacuolar H ATPase family member (vha-8)
    56(a)
    1 → many
    IV(6791061-6792450)
    A. gossypii yeast
    (Ashbya gossypii)
    Saccharomycetes AGOS_ADR358W1 ADR358Wp 49.63(n)
    37.22(a)
      4620619  NM_209807.1  NP_984454.1 
    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, UniProtKB, 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

    10/239 NCBI SNPs in ATP6V1E2 are shown (see all 239    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
    rs1142120421,2
    C,--46738688(+) GAGCTG/TGGCCC 1 -- ds50010--------
    rs353911601,2
    C--46738689(+) CTTGGG/-CCCCT 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1428876761,2
    --46738752(+) AAGATC/TTCTAG 1 -- ds50010--------
    rs1861754941,2
    --46738791(+) CTGAAA/GCTGAA 1 -- ds50010--------
    rs1510602061,2
    --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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for ATP6V1E2
         5 CNVs: 8944 2382 3354 9931 32303

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP6V1E2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V1E2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ATP6V1E2 for disorders           About GeneDecksing

    6 diseases for ATP6V1E2:    About MalaCards
    osteopetrosis    rheumatoid arthritis    cholera    arthritis
    malaria    neuronitis


    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore small molecules (inhibitor) for ATP6V1E2
     Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for ATP6V1E2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP6V1E2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP6V1E2  
     OriGene Protein Over-expression Lysate for ATP6V1E2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for ATP6V1E2   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V1E2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V1E2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ATP6V1E2   OriGene Custom Protein Services for ATP6V1E2  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATP6V1E2
     Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP6V1E2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V1E2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1E2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V1E2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1E2
     GenScript Custom Purified and Recombinant Proteins Services for ATP6V1E2 GenScript cDNA clones with any tag delivered in your preferred vector for ATP6V1E2
     GenScript Custom Assay Services for ATP6V1E2 GenScript Custom Superior Antibodies Services for ATP6V1E2
     GenScript Custom overexpressing Cell Line Services for ATP6V1E2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ATP6V1E2 promoter
     Search Chromatin IP Primers for ATP6V1E2
     RT2 qPCR Primer Assay in human, mouse, rat ATP6V1E2
     Search GNC Networks for ATP6V1E2
     SABiosciences PCR Arrays including human, mouse, rat ATP6V1E2
     Tocris compounds for ATP6V1E2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ATP6V1E2 antibodies
     ATP6V1E2 proteins
     ATP6V1E2 lysates
     Search for Antibodies for ATP6V1E2 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for ATP6V1E2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     ATP6V1E2 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for ATP6V1E2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1E2
     SwitchGear 3'UTR luciferase reporter plasmids for ATP6V1E2
     SwitchGear Promoter luciferase reporter plasmids for ATP6V1E2
     ThermoFisher Antibodies for ATP6V1E2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1E2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ATP6V1E2 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4