GeneID = 478 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 478
    Gene Symbol ATP1A3
    Aliases DYT12,MGC13276,RDP
    Description ATPase, Na+/K+ transporting, alpha 3 polypeptide
    Organism Homo sapiens
    Location 19q13.31
    Genomic position NC_000019.9 42470733-42498381 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q53ES0
    Mammalian Homolog
    (GeneID)
    mouse : 232975
    rat : 24213
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • Data comes from PharmGKB PA64
    PharmGKB AccessionClassName / Gene Symbol (Entrez Gene ID)
    PA449319 Drug digoxin
  • 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
    rs919390 19 42471050 CEU C / G 76 / 48 FET lg p = -4.50

    max diff AF = 0.242
    C/C / C/G / G/G 23 / 30 / 9 UTR3: ATP1A3
    CHB 76 / 14 32 / 12 / 1
    JPT 67 / 21 24 / 19 / 1
    YRI 106 / 18 44 / 18 / 0
    1KG G (minor)568 in 2178 = 0.26079 heterozygosity = 0.38556, with SE = 0.21006
    rs2288508 19 42471566 CEU A / G 130 / 0 FET lg p = 0.00

    max diff AF = 0.000
    A/A / A/G / G/G 65 / 0 / 0 intronic: ATP1A3
    CHB 90 / 0 45 / 0 / 0
    JPT 88 / 0 44 / 0 / 0
    YRI 126 / 0 63 / 0 / 0
    1KG heterozygosity = 0.00000, with SE = 0.00000
    rs2288507 19 42482333 CEU C / T 130 / 0 FET lg p = 0.00

    max diff AF = 0.000
    C/C / C/T / T/T 65 / 0 / 0 exonic: ATP1A3

    synonymous SNV: ATP1A3, NM_001256214, exon13, c.G1815A, p.A605A; ATP1A3, NM_152296, exon13, c.G1776A, p.A592A; ATP1A3, NM_001256213, exon13, c.G1809A, p.A603A
    CHB 90 / 0 45 / 0 / 0
    JPT 88 / 0 44 / 0 / 0
    YRI 126 / 0 63 / 0 / 0
    1KG T (minor)3 in 2178 = 0.00138 heterozygosity = 0.00275, with SE = 0.03698
    rs2317633 19 42483584 1KG G (minor)207 in 2178 = 0.09504 heterozygosity = 0.17202, with SE = 0.23753 intronic: ATP1A3
    rs2217342 19 42489516 ASW C / A 110 / 4 FET lg p = -12.05

    max diff AF = 0.190
    C/C / A/C / A/A 53 / 4 / 0 exonic: ATP1A3

    synonymous SNV: ATP1A3, NM_001256214, exon7, c.T705T, p.T235T; ATP1A3, NM_152296, exon7, c.T666T, p.T222T; ATP1A3, NM_001256213, exon7, c.T699T, p.T233T
    CEU 214 / 12 101 / 12 / 0
    CHB 246 / 26 110 / 26 / 0
    CHD 194 / 24 87 / 20 / 2
    GIH 162 / 40 65 / 32 / 4
    JPT 197 / 27 87 / 23 / 2
    LWK 217 / 3 107 / 3 / 0
    MEX 103 / 13 45 / 13 / 0
    MKK 287 / 21 133 / 21 / 0
    TSI 177 / 27 75 / 27 / 0
    YRI 125 / 1 62 / 1 / 0
    1KG A (minor)186 in 2178 = 0.08540 heterozygosity = 0.15621, with SE = 0.23174
    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_110117 chr19:42478978-42495142 U E Inversion 0 0 0 20482838
    Variation_12027 chr19:42494495-42494638 U E InDel 0 1 1 16902084
  • 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 478
    Gene Symbol and
    Genome Browser
    ATP1A3
    UCSC Ensembl
    mRNA NM_001256213; NM_001256214; NM_152296
    protein NP_001243142; NP_001243143; NP_689509
    Ensembl ENSG00000105409
    HPRD 01666
    UniProt Accession Q53ES0
    UniGene Hs.515427
    HomoloGene 113729
    EMBL AK223569
    IPI IPI00788782
    STRING Q53ES0
    OMIM 182350