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    Data summary

    • Publications : 1001
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4631
    • SNVs : 3422
    • InDels : 1209
    • Last Update : 22/02/2019

    Detailed information for CC2D2A






    Basic information
    Official symbolCC2D2A
    Official full namecoiled-coil and C2 domain containing 2A
    Location4p15.32
    Gene typeprotein-coding
    SynonymsJBTS9|MKS6
    Quick linksEntrez ID:57545; HGNC:29253; MIM:612013; Ensembl:ENSG00000048342; HPRD:OTTHUMG00000160255; Vega:
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0060271cilium morphogenesis97251.2120.722.04e-261.26e-24
    GO:0042384cilium assembly75210.9322.513.56e-231.90e-21
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0010927cellular component assembly involved in morphogenesis137221.7012.911.49e-186.03e-17
    GO:0048646anatomical structure formation involved in morphogenesis15946219.833.134.32e-171.64e-15
    GO:0030031cell projection assembly204242.549.466.34e-172.33e-15
    GO:0009653anatomical structure morphogenesis20557025.562.741.99e-167.08e-15
    GO:0030030cell projection organization9344611.623.962.85e-169.84e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0000902cell morphogenesis9454211.763.572.49e-137.69e-12
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005929cilium239552.6121.102.59e-585.08e-56
    GO:0031513nonmotile primary cilium80320.8736.671.40e-421.37e-40
    GO:0072372primary cilium96331.0531.522.93e-411.91e-39
    GO:0044441cilium part110291.2024.171.90e-329.31e-31
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0005932microtubule basal body66200.7227.785.27e-241.48e-22
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0005815microtubule organizing center486315.305.851.61e-152.87e-14
    GO:0015630microtubule cytoskeleton863379.413.935.76e-138.68e-12
    GO:0044430cytoskeletal part12873914.042.783.99e-093.91e-08
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-08
    GO:0035869ciliary transition zone1650.1728.655.80e-074.55e-06
    GO:0036038TCTN-B9D complex1240.1330.566.33e-064.00e-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
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr41547048815604180216360COACH syndrome36120134p15.32
    chr41547048815604180612285Joubert syndrome 936120134p15.32
    chr41547048815604180612284Meckel syndrome 636120134p15.32
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr4154704881560418057545Cc2d2aMGI:1924487MP:0003631nervous system phenotype
    chr4154704881560418057545Cc2d2aMGI:1924487MP:0005376homeostasis/metabolism phenotype
    chr4154704881560418057545Cc2d2aMGI:1924487MP:0005380embryogenesis phenotype
    chr4154704881560418057545Cc2d2aMGI:1924487MP:0005382craniofacial phenotype
    chr4154704881560418057545Cc2d2aMGI:1924487MP:0005384cellular phenotype
    chr4154704881560418057545Cc2d2aMGI:1924487MP:0005391vision/eye phenotype
    chr4154704881560418057545Cc2d2aMGI:1924487MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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