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 TSPAN12






    Basic information
    Official symbolTSPAN12
    Official full nametetraspanin 12
    Location7q31.31
    Gene typeprotein-coding
    SynonymsEVR5|NET-2|NET2|TM4SF12
    Quick linksEntrez ID:23554; HGNC:21641; MIM:613138; Ensembl:ENSG00000106025; HPRD:15509; Vega:OTTHUMG00000156980
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0060041retina development in camera-type eye105311.3123.731.13e-341.90e-32
    GO:0007423sensory organ development436485.428.853.27e-323.84e-30
    GO:0001654eye development276393.4311.363.01e-302.94e-28
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0043010camera-type eye development237332.9511.192.13e-251.25e-23
    GO:0048592eye morphogenesis126241.5715.315.38e-222.53e-20
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0060042retina morphogenesis in camera-type eye37130.4628.243.05e-161.02e-14
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0048593camera-type eye morphogenesis90151.1213.403.00e-139.03e-12
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0042813Wnt-activated receptor activity2130.2312.840.00160.0170
    GO:0044459plasma membrane part19184120.921.961.68e-059.98e-05
    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_293340.3411.800.00030.0022
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr7120426373120499177613310Exudative vitreoretinopathy 536131387q31.31
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr712042637312049917723554Tspan12MGI:1889818MP:0005377hearing/vestibular/ear phenotype
    chr712042637312049917723554Tspan12MGI:1889818MP:0005385cardiovascular system phenotype
    chr712042637312049917723554Tspan12MGI:1889818MP: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.