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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 OTX2






    Basic information
    Official symbolOTX2
    Official full nameorthodenticle homeobox 2
    Location14q22.3
    Gene typeprotein-coding
    SynonymsCPHD6|MCOPS5
    Quick linksEntrez ID:5015; HGNC:8522; MIM:600037; Ensembl:ENSG00000165588; HPRD:07190; Vega:OTTHUMG00000152338
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    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:0046530photoreceptor cell differentiation41200.5139.215.82e-284.27e-26
    GO:0001754eye photoreceptor cell differentiation34160.4237.833.06e-221.50e-20
    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:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    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
    chr145726642457278194610125"Microphthalmia, syndromic 5"360003714q22.3
    chr145726642457278194613986"Pituitary hormone deficiency, combined, 6"360003714q22.3
    chr145726642457278194610125"Retinal dystrophy, early-onset, and pituitary dysfunction"360003714q22.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1457266424572781945015Otx2MGI:97451MP:0001186pigmentation phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0002873normal phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0003631nervous system phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005369muscle phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005376homeostasis/metabolism phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005377hearing/vestibular/ear phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005378growth/size phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005379endocrine/exocrine gland phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005380embryogenesis phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005381digestive/alimentary phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005382craniofacial phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005384cellular phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005385cardiovascular system phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005386behavior/neurological phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005388respiratory system phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005389reproductive system phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005390skeleton phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005391vision/eye phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0005394taste/olfaction phenotype
    chr1457266424572781945015Otx2MGI:97451MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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