GeneID = 117155 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 117155
    Gene Symbol CATSPER2
    Aliases MGC33346
    Description cation channel, sperm associated 2
    Organism Homo sapiens
    Location 15q15.3
    Genomic position NC_000015.9 43922771-43941038 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q96P56
    Mammalian Homolog
    (GeneID)
    mouse : 212670
    rat : 366174
  • 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  • Data comes from (unpublished integrated data)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:
    C00076
  • 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
    rs2447193 15 43929733 CEU A / C 120 / 10 FET lg p = -12.49

    max diff AF = 0.423
    A/A / A/C / C/C 55 / 10 / 0 intronic: CATSPER2
    CHB 61 / 27 21 / 19 / 4
    JPT 57 / 31 18 / 21 / 5
    YRI 62 / 62 17 / 28 / 17
    1KG C (minor)582 in 2178 = 0.26722 heterozygosity = 0.39163, with SE = 0.20602
    rs2447195 15 43931449 1KG A (minor)735 in 2178 = 0.33747 heterozygosity = 0.44716, with SE = 0.15371 intronic: CATSPER2
    rs1065392 15 43931875 1KG G (minor)4 in 2178 = 0.00184 heterozygosity = 0.00367, with SE = 0.04266 exonic: CATSPER2

    nonsynonymous SNV: CATSPER2, NM_054020, exon6, c.A683C, p.Q228P; CATSPER2, NM_172095, exon6, c.A683C, p.Q228P

    SIFT score = 0.01

    PolyPhen2 score = 0.00
    rs2447208 15 43933895 CEU C / T 202 / 16 FET lg p = -48.82

    max diff AF = 0.550
    C/C / C/T / T/T 94 / 14 / 1 intronic: CATSPER2
    CHB 172 / 96 59 / 54 / 21
    CHD 155 / 59 57 / 41 / 9
    GIH 157 / 39 61 / 35 / 2
    JPT 160 / 56 59 / 42 / 7
    MEX 84 / 32 30 / 24 / 4
    MKK 176 / 132 56 / 64 / 34
    TSI 169 / 33 70 / 29 / 2
    YRI 107 / 177 20 / 67 / 55
    1KG T (minor)586 in 2178 = 0.26905 heterozygosity = 0.39333, with SE = 0.20483
    rs2447210 15 43936103 1KG T (minor)877 in 2178 = 0.40266 heterozygosity = 0.48105, with SE = 0.09547 intronic: CATSPER2
    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_104079 chr15:43885118-43988553 U E CopyNumber 0 26 26 20811451
    Variation_10482 chr15:43914373-43939642 U E CopyNumber 3 3 17921354
    Variation_1282 chr15:43888976-43939642 U E CopyNumber 1 1 16327808
    Variation_3079 chr15:43831923-44058634 U E CopyNumber 0 5 5 17122850
    Variation_32029 chr15:43911140-43952044 U E CopyNumber 0 1 1 18304495
    Variation_35314 chr15:43878745-43972533 U E CopyNumber 0 1 1 18451855
    Variation_35315 chr15:43878812-43996580 U E CopyNumber 0 1 1 18451855
    Variation_3960 chr15:43823158-44148641 U E CopyNumber 6 17122850
    Variation_66780 chr15:43852144-43988641 U E CopyNumber 0 8 8 19812545
    Variation_66782 chr15:43852144-43988641 U E CopyNumber 0 0 0 19812545
    Variation_7061 chr15:43888955-43995223 U E CopyNumber 0 2 2 17666407
    Variation_87664 chr15:43833982-44039630 U E CopyNumber 0 4 4 19900272
  • 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 117155
    Gene Symbol and
    Genome Browser
    CATSPER2
    UCSC Ensembl
    mRNA NM_054020; NM_172095; NM_172097
    protein NP_473361; NP_742093; NP_742095
    Ensembl ENST00000299989; ENSP00000299989; ENSG00000166762; ENST00000321596; ENSP00000321463; ENSG00000166762
    HPRD 16236
    UniProt Accession Q96P56
    GeneCards GC15M043920
    UniGene Hs.662284
    HomoloGene 77423
    EMBL AF411817; AF411818; AF411819; BC028728; BC064387
    IPI IPI00065918; IPI00788611; IPI00797407; IPI00797980
    PRIDE Q96P56
    STRING Q96P56
    TCDB 1.A.1.19.2
    OMIM 607249; 611102
    PharmGKB PA38691