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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 KCNV2






    Basic information
    Official symbolKCNV2
    Official full namepotassium channel, subfamily V, member 2
    Location9p24.2
    Gene typeprotein-coding
    SynonymsKV11.1|Kv8.2|RCD3B
    Quick linksEntrez ID:169522; HGNC:19698; MIM:607604; Ensembl:ENSG00000168263; HPRD:12126; Vega:OTTHUMG00000019449
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0050877neurological system process123710615.396.891.82e-665.34e-64
    GO:0003008system process169510821.095.121.12e-542.63e-52
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0044459plasma membrane part19184120.921.961.68e-059.98e-05
    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
    chr927165252731037610356Retinal cone dystrophy 3B36076049p24.2
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr927165252731037169522Kcnv2MGI:2670981--
    Mutation spectrum

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    Gene-disease network

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