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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 GNAT2






    Basic information
    Official symbolGNAT2
    Official full nameguanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
    Location1p13.1
    Gene typeprotein-coding
    SynonymsACHM4|GNATC
    Quick linksEntrez ID:2780; HGNC:4394; MIM:139340; Ensembl:ENSG00000134183; HPRD:00762; Vega:OTTHUMG00000011639
    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:0009583detection of light stimulus47240.5841.054.99e-347.32e-32
    GO:0007423sensory organ development436485.428.853.27e-323.84e-30
    GO:0009582detection of abiotic stimulus83271.0326.151.40e-311.49e-29
    GO:0001654eye development276393.4311.363.01e-302.94e-28
    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:0046530photoreceptor cell differentiation41200.5139.215.82e-284.27e-26
    GO:0042461photoreceptor cell development30180.3748.231.64e-271.13e-25
    GO:0009584detection of visible light22160.2758.461.18e-267.70e-25
    GO:0043010camera-type eye development237332.9511.192.13e-251.25e-23
    GO:0007602phototransduction37180.4639.113.11e-251.74e-23
    GO:0009416response to light stimulus203292.5311.481.06e-225.41e-21
    GO:0001754eye photoreceptor cell differentiation34160.4237.833.06e-221.50e-20
    GO:0048592eye morphogenesis126241.5715.315.38e-222.53e-20
    GO:0042462eye photoreceptor cell development25140.3145.025.07e-212.29e-19
    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:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0060042retina morphogenesis in camera-type eye37130.4628.243.05e-161.02e-14
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0048593camera-type eye morphogenesis90151.1213.403.00e-139.03e-12
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0009881photoreceptor activity1560.1735.967.98e-098.66e-07
    GO:0008020G-protein coupled photoreceptor activity630.0744.952.64e-050.0008
    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:0005929cilium239552.6121.102.59e-585.08e-56
    GO:0031513nonmotile primary cilium80320.8736.671.40e-421.37e-40
    GO:0072372primary cilium96331.0531.522.93e-411.91e-39
    GO:0044441cilium part110291.2024.171.90e-329.31e-31
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0001750photoreceptor outer segment37190.4047.083.03e-289.90e-27
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0001917photoreceptor inner segment20100.2245.843.14e-155.13e-14
    GO:0042622photoreceptor outer segment membrane860.0968.764.27e-115.98e-10
    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: ConesPathway commons23150.10144.981.71e-308.81e-29
    G alpha (i) signalling eventsPathway commons3240.1427.791.29e-050.0001
    PhototransductionKEGG29120.1391.992.36e-215.66e-20
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    Hsapiens_Module_56630.0648.692.08e-050.0004
    Hsapiens_Module_912751.303.830.01000.0350
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr1110144888110156705613856Achromatopsia-431393401p13.3
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr11101448881101567052780Gnat2MGI:95779MP:0003631nervous system phenotype
    chr11101448881101567052780Gnat2MGI:95779MP:0005385cardiovascular system phenotype
    chr11101448881101567052780Gnat2MGI:95779MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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