GeneID = 344905 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 344905
    Gene Symbol ATP13A5
    Aliases FLJ16025
    Description ATPase type 13A5
    Organism Homo sapiens
    Location 3q29
    Genomic position NC_000003.11 192992830-193096513 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q4VNC0
    Mammalian Homolog
    (GeneID)
    mouse : 268878
    rat : 303856
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • Data comes from (unpublished integrated data)
    KEGG Compound ID:
    C01373
  • 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
    rs735930 3 193040998 1KG T (minor)57 in 2178 = 0.02617 heterozygosity = 0.05097, with SE = 0.15129 intronic: ATP13A5
    rs902189 3 193041287 1KG C (minor)860 in 2178 = 0.39486 heterozygosity = 0.47789, with SE = 0.10279 intronic: ATP13A5
    rs750907 3 193041750 CEU A / G 106 / 24 FET lg p = -3.91

    max diff AF = 0.151
    A/A / A/G / G/G 43 / 20 / 2 intronic: ATP13A5
    CHB 83 / 5 39 / 5 / 0
    JPT 85 / 3 41 / 3 / 0
    YRI 121 / 5 58 / 5 / 0
    1KG G (minor)231 in 2178 = 0.10606 heterozygosity = 0.18962, with SE = 0.24260
    rs923495 3 193081864 1KG A (minor)543 in 2178 = 0.24931 heterozygosity = 0.37431, with SE = 0.21690 intronic: ATP13A5
    rs923494 3 193082138 ASW T / C 104 / 10 FET lg p = -16.25

    max diff AF = 0.177
    T/T / C/T / C/C 47 / 10 / 0 intronic: ATP13A5
    CEU 183 / 43 75 / 33 / 5
    CHB 268 / 6 131 / 6 / 0
    CHD 215 / 3 106 / 3 / 0
    GIH 176 / 26 77 / 22 / 2
    JPT 223 / 3 110 / 3 / 0
    LWK 202 / 18 92 / 18 / 0
    MEX 106 / 10 48 / 10 / 0
    MKK 295 / 17 140 / 15 / 1
    TSI 181 / 23 83 / 15 / 4
    YRI 258 / 36 114 / 30 / 3
    1KG C (minor)232 in 2178 = 0.10652 heterozygosity = 0.19035, with SE = 0.24278
    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_27258 chr3:193080579-193080579 U E InDel 1 0 1 17803354
  • 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 344905
    Gene Symbol and
    Genome Browser
    ATP13A5
    UCSC Ensembl
    mRNA NM_198505
    protein NP_940907
    Ensembl ENST00000342358; ENSP00000341942; ENSG00000187527
    HPRD 18597
    UniProt Accession Q4VNC0
    GeneCards GC03M192992
    UniGene Hs.658032
    HomoloGene 77451
    EMBL AY823163; AK122613; AY358667
    IPI IPI00607633
    PRIDE Q4VNC0
    PharmGKB PA134952038