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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 NR2E3






    Basic information
    Official symbolNR2E3
    Official full namenuclear receptor subfamily 2, group E, member 3
    Location15q23
    Gene typeprotein-coding
    SynonymsESCS|PNR|RNR|RP37|rd7
    Quick linksEntrez ID:10002; HGNC:7974; MIM:604485; Ensembl:05132; HPRD:; 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: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
    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
    chr157210189372111597268100Enhanced S-cone syndrome360448515q23
    chr157210189372111597611131Retinitis pigmentosa 37360448515q23
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr15721018937211159710002Nr2e3MGI:1346317MP:0003631nervous system phenotype
    chr15721018937211159710002Nr2e3MGI:1346317MP:0005384cellular phenotype
    chr15721018937211159710002Nr2e3MGI:1346317MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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