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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 GUCY2D






    Basic information
    Official symbolGUCY2D
    Official full nameguanylate cyclase 2D, membrane (retina-specific)
    Location17p13.1
    Gene typeprotein-coding
    SynonymsCORD5|CORD6|CYGD|GUC1A4|GUC2D|LCA|LCA1|RCD2|RETGC-1|ROS-GC1|ROSGC|retGC
    Quick linksEntrez ID:3000; HGNC:4689; MIM:600179; Ensembl:ENSG00000132518; HPRD:02550; Vega:OTTHUMG00000108169
    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:0032561guanyl ribonucleotide binding392134.362.980.00040.0079
    GO:0019001guanyl nucleotide binding392134.362.980.00040.0079
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0043168anion binding24024026.721.500.00480.0336
    GO:0044459plasma membrane part19184120.921.961.68e-059.98e-05
    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
    Visual signal transduction: ConesPathway commons23150.10144.981.71e-308.81e-29
    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
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr1779049877924658601777Cone-rod dystrophy 6360017917p13.1
    chr1779049877924658204000Leber congenital amaurosis 1360017917p13.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr17790498779246583000Gucy2eMGI:105123MP:0003631nervous system phenotype
    chr17790498779246583000Gucy2eMGI:105123MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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