GeneID = 56302 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 56302
    Gene Symbol TRPV5
    Aliases CAT2,ECAC1,OTRPC3
    Description transient receptor potential cation channel, subfamily V, member 5
    Organism Homo sapiens
    Location 7q35
    Genomic position NC_000007.13 142605647-142630819 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q9NQA5
    Mammalian Homolog
    (GeneID)
    mouse : 194352
    rat : 116469
  • 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  • Data comes from (unpublished integrated data)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:
    C00076C01373
  • 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
    rs1404045 7 142617638 CEU T / C 120 / 10 FET lg p = -36.86

    max diff AF = 0.622
    T/T / C/T / C/C 56 / 8 / 1 intronic: TRPV5
    CHB 86 / 4 41 / 4 / 0
    JPT 84 / 4 40 / 4 / 0
    YRI 42 / 84 6 / 30 / 27
    1KG C (minor)426 in 2178 = 0.19559 heterozygosity = 0.31467, with SE = 0.24149
    rs756262 7 142619875 CEU A / G 120 / 10 FET lg p = -42.83

    max diff AF = 0.697
    A/A / A/G / G/G 56 / 8 / 1 intronic: TRPV5
    CHB 86 / 4 41 / 4 / 0
    JPT 86 / 4 41 / 4 / 0
    YRI 30 / 86 3 / 24 / 31
    1KG G (minor)455 in 2178 = 0.20891 heterozygosity = 0.33053, with SE = 0.23667
    rs756260 7 142619957 CEU T / C 116 / 10 FET lg p = -42.61

    max diff AF = 0.695
    T/T / C/T / C/C 54 / 8 / 1 intronic: TRPV5
    CHB 82 / 4 39 / 4 / 0
    JPT 74 / 4 35 / 4 / 0
    YRI 32 / 92 3 / 26 / 33
    1KG C (minor)456 in 2178 = 0.20937 heterozygosity = 0.33106, with SE = 0.23649
    rs756261 7 142620243 CEU A / T 116 / 10 FET lg p = -42.59

    max diff AF = 0.692
    A/A / A/T / T/T 54 / 8 / 1 intronic: TRPV5
    CHB 84 / 4 40 / 4 / 0
    JPT 80 / 4 38 / 4 / 0
    YRI 32 / 90 3 / 26 / 32
    1KG T (minor)455 in 2178 = 0.20891 heterozygosity = 0.33053, with SE = 0.23667
    rs1568759 7 142623824 ASW A / C 103 / 11 FET lg p = -19.54

    max diff AF = 0.201
    A/A / A/C / C/C 46 / 11 / 0 intronic: TRPV5
    CEU 220 / 6 107 / 6 / 0
    CHB 90 / 0 45 / 0 / 0
    JPT 90 / 0 45 / 0 / 0
    LWK 186 / 34 77 / 32 / 1
    MEX 114 / 2 56 / 2 / 0
    MKK 275 / 37 124 / 27 / 5
    TSI 199 / 5 98 / 3 / 1
    YRI 235 / 59 93 / 49 / 5
    1KG C (minor)108 in 2178 = 0.04959 heterozygosity = 0.09426, with SE = 0.19556
    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_52134 chr7:142563253-142641207 U E CopyNumber 0 2 2 19592680
  • 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 56302
    Gene Symbol and
    Genome Browser
    TRPV5
    UCSC Ensembl
    mRNA NM_019841
    protein NP_062815
    Ensembl ENST00000265310; ENSP00000265310; ENSG00000127412
    HPRD 05981
    UniProt Accession Q9NQA5
    GeneCards GC07M142606
    UniGene Hs.283369
    HomoloGene 10520
    EMBL AJ271207; AF304464; AJ487965; AY206695; CH236959; CH471198
    IPI IPI00302133
    PRIDE Q9NQA5
    STRING Q9NQA5
    TCDB 1.A.4.2.10
    OMIM 606679
    PharmGKB PA35045