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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 PANK2






    Basic information
    Official symbolPANK2
    Official full namepantothenate kinase 2
    Location20p13
    Gene typeprotein-coding
    SynonymsC20orf48|HARP|HSS|NBIA1|PKAN
    Quick linksEntrez ID:80025; HGNC:15894; MIM:606157; Ensembl:ENSG00000125779; HPRD:OTTHUMG00000031768; Vega:
    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:0043168anion binding24024026.721.500.00480.0336
    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
    chr2038684853905502607236HARP syndrome360615720p13
    chr2038684853905502234200Neurodegeneration with brain iron accumulation 1360615720p13
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr203868485390550280025Pank2MGI:1921700MP:0003631nervous system phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005367renal/urinary system phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005369muscle phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005370liver/biliary system phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005376homeostasis/metabolism phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005378growth/size phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005379endocrine/exocrine gland phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005384cellular phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005386behavior/neurological phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005387immune system phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005389reproductive system phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005391vision/eye phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0005397hematopoietic system phenotype
    chr203868485390550280025Pank2MGI:1921700MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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