Quick Search:

  • Top 5 genes

    Top 5 diseases

    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4571
    • SNVs : 3402
    • InDels : 1169
    • Last Update : 26/10/2017

    Detailed information for BBS12






    Basic information
    Official symbolBBS12
    Official full nameBardet-Biedl syndrome 12
    Location4q27
    Gene typeprotein-coding
    SynonymsC4orf24
    Quick linksEntrez ID:166379; HGNC:26648; MIM:610683; Ensembl:ENSG00000181004; HPRD:08759; Vega:OTTHUMG00000133070
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    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: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
    Hsapiens_Module_4317110.1763.011.13e-185.88e-17
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr4123652856123667098209900Bardet-Biedl syndrome 1236106834q27
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr4123652856123667098166379Bbs12MGI:2686651MP:0003631nervous system phenotype
    chr4123652856123667098166379Bbs12MGI:2686651MP:0005367renal/urinary system phenotype
    chr4123652856123667098166379Bbs12MGI:2686651MP:0005375adipose tissue phenotype
    chr4123652856123667098166379Bbs12MGI:2686651MP:0005376homeostasis/metabolism phenotype
    chr4123652856123667098166379Bbs12MGI:2686651MP:0005378growth/size phenotype
    chr4123652856123667098166379Bbs12MGI:2686651MP:0005386behavior/neurological phenotype
    chr4123652856123667098166379Bbs12MGI:2686651MP:0005387immune system phenotype
    chr4123652856123667098166379Bbs12MGI:2686651MP:0005390skeleton phenotype
    chr4123652856123667098166379Bbs12MGI:2686651MP:0005391vision/eye phenotype
    Mutation spectrum

    If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.

    Gene-disease network

    If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.


    Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.