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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 PDE6G






    Basic information
    Official symbolPDE6G
    Official full namephosphodiesterase 6G, cGMP-specific, rod, gamma
    Location17q25
    Gene typeprotein-coding
    SynonymsPDEG|RP57
    Quick linksEntrez ID:5148; HGNC:8789; MIM:180073; Ensembl:ENSG00000185527; HPRD:08914; Vega:
    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: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:0030553cGMP binding1260.1344.951.52e-093.30e-07
    GO:00475553',5'-cyclic-GMP phosphodiesterase activity1050.1144.953.87e-082.80e-06
    GO:0030551cyclic nucleotide binding2860.3119.275.33e-072.89e-05
    GO:00041143',5'-cyclic-nucleotide phosphodiesterase activity2450.2718.735.75e-060.0002
    GO:0004112cyclic-nucleotide phosphodiesterase activity2550.2817.987.12e-060.0003
    GO:0032561guanyl ribonucleotide binding392134.362.980.00040.0079
    GO:0019001guanyl nucleotide binding392134.362.980.00040.0079
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0008081phosphoric diester hydrolase activity9551.064.730.00420.0304
    GO:0043168anion binding24024026.721.500.00480.0336
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Visual signal transduction: RodsPathway commons24170.11157.472.08e-352.14e-33
    PhototransductionKEGG29120.1391.992.36e-215.66e-20
    Purine metabolismKEGG16270.739.619.46e-060.0001
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Hsapiens_Module_1421230.1224.340.00020.0021
    Hsapiens_Module_26697167.162.240.00220.0114
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr177961648879624607613582Retinitis pigmentosa 57318007317q25.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1779616488796246075148Pde6gMGI:97526MP:0003631nervous system phenotype
    chr1779616488796246075148Pde6gMGI:97526MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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