GeneID = 90423 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 90423
    Gene Symbol ATP6V1E2
    Aliases ATP6E1,ATP6EL2,ATP6V1EL2,MGC9341,VMA4
    Description ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2
    Organism Homo sapiens
    Location 2p21
    Genomic position NC_000002.11 46738985-46747095 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q96A05
    Mammalian Homolog
    (GeneID)
    mouse : 74915
    rat : 366545
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • Genomic Variation --- SNP
  • Data is integrated from dbSNP and HapMap, with functionally annotated by ANNOVAR
    Note: heterozygosity is not actually estimated from 1KG data, but is put in the same line for more compact representation.
    dbSNP rsIDchrpositionpop.alleleallele countfrequencyHapMap pop. diff.genotypegenotype count (frequency) functional annotation
    rs2084679 2 46742041 CEU C / A 82 / 42 FET lg p = -8.30

    max diff AF = 0.313
    C/C / A/C / A/A 29 / 24 / 9 intronic: ATP6V1E2
    CHB 81 / 9 37 / 7 / 1
    JPT 79 / 11 34 / 11 / 0
    YRI 74 / 52 21 / 32 / 10
    1KG A (minor)574 in 2178 = 0.26354 heterozygosity = 0.38818, with SE = 0.20834
    rs880671 2 46746256 CEU G / A 83 / 41 FET lg p = -9.32

    max diff AF = 0.286
    G/G / A/G / A/A 32 / 19 / 11 UTR5: ATP6V1E2
    CHB 86 / 4 41 / 4 / 0
    JPT 82 / 8 37 / 8 / 0
    YRI 118 / 8 55 / 8 / 0
    1KG A (minor)437 in 2178 = 0.20064 heterozygosity = 0.32077, with SE = 0.23977
    rs896211 2 46746682 CHB G / A 82 / 8 FET lg p = -2.95

    max diff AF = 0.089
    G/G / A/G / A/A 37 / 8 / 0 UTR5: ATP6V1E2
    JPT 79 / 7 36 / 7 / 0
    YRI 112 / 0 56 / 0 / 0
    1KG A (minor)205 in 2178 = 0.09412 heterozygosity = 0.17053, with SE = 0.23703
    rs896210 2 46746745 ASW A / G 59 / 55 FET lg p = -42.82

    max diff AF = 0.375
    A/A / A/G / G/G 20 / 19 / 18 UTR5: ATP6V1E2
    CEU 118 / 106 36 / 46 / 30
    CHB 227 / 47 93 / 41 / 3
    CHD 181 / 37 75 / 31 / 3
    GIH 126 / 76 37 / 52 / 12
    JPT 179 / 47 69 / 41 / 3
    LWK 115 / 105 31 / 53 / 26
    MEX 60 / 56 15 / 30 / 13
    MKK 151 / 161 41 / 69 / 46
    TSI 98 / 106 24 / 50 / 28
    YRI 133 / 159 30 / 73 / 43
    1KG G (minor)894 in 2178 = 0.41047 heterozygosity = 0.48397, with SE = 0.08808
    rs896209 2 46747657 CEU C / G 64 / 62 FET lg p = -9.37

    max diff AF = 0.359
    C/C / C/G / G/G 19 / 26 / 18 upstream: ATP6V1E2
    CHB 73 / 17 30 / 13 / 2
    JPT 69 / 19 27 / 15 / 2
    YRI 56 / 68 11 / 34 / 17
    1KG G (minor)869 in 2178 = 0.39899 heterozygosity = 0.47959, with SE = 0.09893
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • Data comes from DGV
    Variation IDPositionVar. TypeGainLossTotal GL InvPubMed
    Variation_2382 chr2:46614235-46756431 U E CopyNumber 0 2 2 17122850
    Variation_32303 chr2:46668633-46740171 U E CopyNumber 0 2 2 18304495
    Variation_3354 chr2:46532812-46874151 U E CopyNumber 1 17122850
    Variation_8944 chr2:46605659-46818992 U E CopyNumber 2 2 17911159
    Variation_9931 chr2:46670146-46739157 U E CopyNumber 2 2 17921354
  • Haplotype Information
  • Data links to UCSC Genome Browser
    ContentHyperlinkDemo example
    HapMap LD Structure (hg18)UCSC
    1000 Genomes Phase I Haplotype Clustering (hg19)UCSC
    Gene Haplotype Allele (hg19)UCSC
  • ENCODE TFBS (Transcription Factor Binding Sites) Information
  • Epigenetic Information
  • Gene Ontology (GO)
  • Protein Sequence & Features
  • Protein Domain Information
  • Protein-Protein Interaction
  • UniGene EST Expression Data
  • Allen Brain Atlas - Mouse Brain Expression Data
  • RNA-seq Expression Data
  • External Links
  • EntrezGeneID 90423
    Gene Symbol and
    Genome Browser
    ATP6V1E2
    UCSC Ensembl
    mRNA NM_080653
    protein NP_542384
    Ensembl ENST00000306448; ENSP00000304891; ENSG00000250565
    HPRD 16525
    UniProt Accession Q96A05
    GeneCards GC02M046738
    UniGene Hs.659656
    HomoloGene 41770
    EMBL AB074759; AK058055; AC018682; BC008981; BC034808
    IPI IPI00059139
    PRIDE Q96A05
    STRING Q96A05
    PharmGKB PA25159
    Reactome REACT_111102; REACT_15518