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  • Top 5 genes

    Top 5 diseases

    Data summary

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

    Detailed information for PEX2






    Basic information
    Official symbolPEX2
    Official full nameperoxisomal biogenesis factor 2
    Location8q21.1
    Gene typeprotein-coding
    SynonymsPAF1|PBD5A|PBD5B|PMP3|PMP35|PXMP3|RNF72|ZWS3
    Quick linksEntrez ID:5828; HGNC:9717; MIM:170993; Ensembl:ENSG00000164751; HPRD:01367; Vega:OTTHUMG00000164530
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    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:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    PeroxisomeKEGG7950.3614.073.01e-050.0002
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Hsapiens_Module_4631320.1314.980.00760.0304
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr87789149377913524614866Peroxisome biogenesis disorder 5A (Zellweger)31709938q21.11
    chr87789149377913524614867Peroxisome biogenesis disorder 5B31709938q21.11
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr877891493779135245828Pex2MGI:107486MP:0003631nervous system phenotype
    chr877891493779135245828Pex2MGI:107486MP:0005367renal/urinary system phenotype
    chr877891493779135245828Pex2MGI:107486MP:0005370liver/biliary system phenotype
    chr877891493779135245828Pex2MGI:107486MP:0005376homeostasis/metabolism phenotype
    chr877891493779135245828Pex2MGI:107486MP:0005378growth/size phenotype
    chr877891493779135245828Pex2MGI:107486MP:0005379endocrine/exocrine gland phenotype
    chr877891493779135245828Pex2MGI:107486MP:0005380embryogenesis phenotype
    chr877891493779135245828Pex2MGI:107486MP:0005382craniofacial phenotype
    chr877891493779135245828Pex2MGI:107486MP:0005386behavior/neurological phenotype
    chr877891493779135245828Pex2MGI:107486MP:0005390skeleton phenotype
    chr877891493779135245828Pex2MGI:107486MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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