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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 CIB2






    Basic information
    Official symbolCLN3
    Official full nameceroid-lipofuscinosis, neuronal 3
    Location16p12.1
    Gene typeprotein-coding
    SynonymsBTS|JNCL
    Quick linksEntrez ID:1201; HGNC:2074; MIM:607042; Ensembl:ENSG00000188603; HPRD:08450; Vega:OTTHUMG00000097024
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    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:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    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
    chr162848759928504623204200"Ceroid lipofuscinosis, neuronal, 3"360704216p11.2
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1628487599285046231201Cln3MGI:107537MP:0003012no phenotypic analysis
    chr1628487599285046231201Cln3MGI:107537MP:0003631nervous system phenotype
    chr1628487599285046231201Cln3MGI:107537MP:0005367renal/urinary system phenotype
    chr1628487599285046231201Cln3MGI:107537MP:0005370liver/biliary system phenotype
    chr1628487599285046231201Cln3MGI:107537MP:0005376homeostasis/metabolism phenotype
    chr1628487599285046231201Cln3MGI:107537MP:0005384cellular phenotype
    chr1628487599285046231201Cln3MGI:107537MP:0005386behavior/neurological phenotype
    chr1628487599285046231201Cln3MGI:107537MP:0005389reproductive system phenotype
    chr1628487599285046231201Cln3MGI:107537MP:0005391vision/eye phenotype
    chr1628487599285046231201Cln3MGI:107537MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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