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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 PAX2






    Basic information
    Official symbolPAX2
    Official full namepaired box 2
    Location10q24
    Gene typeprotein-coding
    SynonymsPAPRS
    Quick linksEntrez ID:5076; HGNC:8616; MIM:167409; Ensembl:ENSG00000075891; HPRD:01330; Vega:OTTHUMG00000018913
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0050953sensory perception of light stimulus2051002.5539.218.72e-1461.02e-142
    GO:0007601visual perception204992.5439.017.39e-1444.34e-141
    GO:0007600sensory perception4951036.1616.734.54e-1051.78e-102
    GO:0050877neurological system process123710615.396.891.82e-665.34e-64
    GO:0003008system process169510821.095.121.12e-542.63e-52
    GO:0060041retina development in camera-type eye105311.3123.731.13e-341.90e-32
    GO:0007423sensory organ development436485.428.853.27e-323.84e-30
    GO:0001654eye development276393.4311.363.01e-302.94e-28
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0043010camera-type eye development237332.9511.192.13e-251.25e-23
    GO:0048592eye morphogenesis126241.5715.315.38e-222.53e-20
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0030030cell projection organization9344611.623.962.85e-169.84e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0000902cell morphogenesis9454211.763.572.49e-137.69e-12
    GO:0048593camera-type eye morphogenesis90151.1213.403.00e-139.03e-12
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0005815microtubule organizing center486315.305.851.61e-152.87e-14
    GO:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    GO:0005813centrosome376224.105.361.49e-101.83e-09
    GO:0044430cytoskeletal part12873914.042.783.99e-093.91e-08
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-08
    GO:0044450microtubule organizing center part9491.038.788.63e-076.51e-06
    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
    Hsapiens_Module_4317110.1763.011.13e-185.88e-17
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr10102504467102590698120330Papillorenal syndrome316740910q24.31
    chr10102504467102590698191830"Renal hypoplasia, isolated"316740910q24.31
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr101025044671025906985076Pax2MGI:97486MP:0001186pigmentation phenotype
    chr101025044671025906985076Pax2MGI:97486MP:0003631nervous system phenotype
    chr101025044671025906985076Pax2MGI:97486MP:0005367renal/urinary system phenotype
    chr101025044671025906985076Pax2MGI:97486MP:0005377hearing/vestibular/ear phenotype
    chr101025044671025906985076Pax2MGI:97486MP:0005379endocrine/exocrine gland phenotype
    chr101025044671025906985076Pax2MGI:97486MP:0005380embryogenesis phenotype
    chr101025044671025906985076Pax2MGI:97486MP:0005384cellular phenotype
    chr101025044671025906985076Pax2MGI:97486MP:0005385cardiovascular system phenotype
    chr101025044671025906985076Pax2MGI:97486MP:0005389reproductive system phenotype
    chr101025044671025906985076Pax2MGI:97486MP:0005391vision/eye phenotype
    chr101025044671025906985076Pax2MGI:97486MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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