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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 ELOVL4






    Basic information
    Official symbolELOVL4
    Official full nameELOVL fatty acid elongase 4
    Location6q14
    Gene typeprotein-coding
    SynonymsADMD|CT118|ISQMR|STGD2|STGD3
    Quick linksEntrez ID:6785; HGNC:14415; MIM:605512; Ensembl:ENSG00000118402; HPRD:05697; Vega:OTTHUMG00000015087
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    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:0009584detection of visible light22160.2758.461.18e-267.70e-25
    GO:0009416response to light stimulus203292.5311.481.06e-225.41e-21
    GO:0051606detection of stimulus202272.5110.742.10e-209.13e-19
    GO:0009314response to radiation319293.977.313.46e-171.35e-15
    GO:0009881photoreceptor activity1560.1735.967.98e-098.66e-07
    GO:0008020G-protein coupled photoreceptor activity630.0744.952.64e-050.0008
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    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
    chr68062352880658315614457"Ichthyosis, spastic quadriplegia, and mental retardation"36055126q14.1
    chr68062352880658315600110"Macular dystrophy, autosomal dominant, chromosome 6-linked"36055126q14.1
    chr68062352880658315600110Stargardt disease 336055126q14.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr680623528806583156785Elovl4MGI:1933331MP:0001186pigmentation phenotype
    chr680623528806583156785Elovl4MGI:1933331MP:0003631nervous system phenotype
    chr680623528806583156785Elovl4MGI:1933331MP:0005371limbs/digits/tail phenotype
    chr680623528806583156785Elovl4MGI:1933331MP:0005376homeostasis/metabolism phenotype
    chr680623528806583156785Elovl4MGI:1933331MP:0005378growth/size phenotype
    chr680623528806583156785Elovl4MGI:1933331MP:0005386behavior/neurological phenotype
    chr680623528806583156785Elovl4MGI:1933331MP:0005389reproductive system phenotype
    chr680623528806583156785Elovl4MGI:1933331MP:0005391vision/eye phenotype
    chr680623528806583156785Elovl4MGI:1933331MP:0005397hematopoietic system phenotype
    chr680623528806583156785Elovl4MGI:1933331MP:0010768mortality/aging
    chr680623528806583156785Elovl4MGI:1933331MP:0010771integument phenotype
    Mutation spectrum

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    Gene-disease network

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