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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 SLC24A1






    Basic information
    Official symbolSLC24A1
    Official full namesolute carrier family 24 (sodium/potassium/calcium exchanger), member 1
    Location15q22
    Gene typeprotein-coding
    SynonymsCSNB1D|HsT17412|NCKX|NCKX1|RODX
    Quick linksEntrez ID:9187; HGNC:10975; MIM:603617; Ensembl:ENSG00000074621; HPRD:04685; Vega:OTTHUMG00000167960
    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:0009416response to light stimulus203292.5311.481.06e-225.41e-21
    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:0005515protein binding733710281.611.250.00110.0149
    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
    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
    chr156591326965949598613830"Night blindness, congenital stationary (complete), 1D, autosomal recessive"360361715q22.31
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1565913269659495989187Slc24a1MGI:2384871--
    Mutation spectrum

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    Gene-disease network

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