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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 GUCA1A






    Basic information
    Official symbolGUCA1A
    Official full nameguanylate cyclase activator 1A (retina)
    Location6p21.1
    Gene typeprotein-coding
    SynonymsC6orf131|COD3|CORD14|GCAP|GCAP1|GUCA|GUCA1|dJ139D8.6
    Quick linksEntrez ID:2978; HGNC:4678; MIM:600364; Ensembl:ENSG00000048545; HPRD:02648; Vega:OTTHUMG00000014696
    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:0009583detection of light stimulus47240.5841.054.99e-347.32e-32
    GO:0009582detection of abiotic stimulus83271.0326.151.40e-311.49e-29
    GO:0009581detection of external stimulus100271.2421.704.42e-293.99e-27
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0007602phototransduction37180.4639.113.11e-251.74e-23
    GO:0009416response to light stimulus203292.5311.481.06e-225.41e-21
    GO:0051606detection of stimulus202272.5110.742.10e-209.13e-19
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0009314response to radiation319293.977.313.46e-171.35e-15
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0008048calcium sensitive guanylate cyclase activator activity520.0635.960.00120.0153
    GO:0010853cyclase activator activity620.0729.970.00180.0170
    GO:0030250guanylate cyclase activator activity620.0729.970.00180.0170
    GO:0030249guanylate cyclase regulator activity720.0825.690.00250.0226
    GO:0010851cyclase regulator activity820.0922.480.00330.0275
    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
    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
    chr64212214342148794602093Cone dystrophy-336003646p21.1
    chr64212214342148794602093Cone-rod dystrophy 1436003646p21.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr642122143421487942978Guca1aMGI:102770MP:0003631nervous system phenotype
    chr642122143421487942978Guca1aMGI:102770MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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