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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4583
    • SNVs : 3411
    • InDels : 1172
    • Last Update : 05/11/2017

    Detailed information for PITPNM3






    Basic information
    Official symbolPITPNM3
    Official full namePITPNM family member 3
    Location17p13
    Gene typeprotein-coding
    SynonymsACKR6|CORD5|NIR1|RDGBA3
    Quick linksEntrez ID:83394; HGNC:21043; MIM:608921; Ensembl:ENSG00000091622; HPRD:07498; Vega:OTTHUMG00000102039
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0005509calcium ion binding668177.432.290.00130.0157
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr1763535826460877600977Cone-rod dystrophy 5360892117p13.2
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr176353582646087783394Pitpnm3MGI:2685726--
    Mutation spectrum

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    Gene-disease network

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