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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4571
    • SNVs : 3402
    • InDels : 1169
    • Last Update : 26/10/2017

    Detailed information for CHM






    Basic information
    Official symbolCIB2
    Official full namecalcium and integrin binding family member 2
    Location15q24
    Gene typeprotein-coding
    SynonymsDFNB48|KIP2|USH1J
    Quick linksEntrez ID:10518; HGNC:24579; MIM:605564; Ensembl:ENSG00000136425; HPRD:05713; Vega:OTTHUMG00000143731
    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: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
    chr157839594778424877609439"Deafness, autosomal recessive 48"360556415q25.1
    chr157839594778424877614869"Usher syndrome, type IJ"360556415q25.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr15783959477842487710518Cib2MGI:1929293--
    Mutation spectrum

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    Gene-disease network

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