[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/2019\/12\/25\/cc2d2a-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/2019\/12\/25\/cc2d2a-wikipedia\/","headline":"CC2D2A – Wikipedia","name":"CC2D2A – Wikipedia","description":"From Wikipedia, the free encyclopedia Protein-coding gene in the species Homo sapiens Coiled-coil and C2 domain-containing protein 2A that in","datePublished":"2019-12-25","dateModified":"2019-12-25","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","url":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","height":"1","width":"1"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/2019\/12\/25\/cc2d2a-wikipedia\/","about":["Wiki"],"wordCount":3693,"articleBody":"From Wikipedia, the free encyclopedia  Protein-coding gene in the species Homo sapiensCoiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.[5][6][7]  Table of ContentsFunction[edit]Clinical significance[edit]References[edit]External links[edit]Further reading[edit]Function[edit]This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.[5]Clinical significance[edit]Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome.[5]  References[edit]^ a b c GRCh38: Ensembl release 89: ENSG00000048342 – Ensembl, May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039765 – Ensembl, May 2017^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.^ a b c “Entrez Gene: coiled-coil and C2 domain containing 2A”.^ Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 2000). “Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro”. DNA Res. 7 (1): 65\u201373. doi:10.1093\/dnares\/7.1.65. PMID\u00a010718198.^ Tallila J, Jakkula E, Peltonen L, Salonen R, Kestil\u00e4 M (June 2008). “Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle”. Am. J. Hum. Genet. 82 (6): 1361\u20137. doi:10.1016\/j.ajhg.2008.05.004. PMC\u00a02427307. PMID\u00a018513680.External links[edit]Further reading[edit]Mougou-Zerelli S, Thomas S, Szenker E,  et\u00a0al. (2009). “CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation”. Hum. Mutat. 30 (11): 1574\u201382. doi:10.1002\/humu.21116. PMC\u00a02783384. PMID\u00a019777577.Ota T, Suzuki Y, Nishikawa T,  et\u00a0al. (2004). “Complete sequencing and characterization of 21,243 full-length human cDNAs”. Nat. Genet. 36 (1): 40\u20135. doi:10.1038\/ng1285. PMID\u00a014702039.Noor A, Windpassinger C, Patel M,  et\u00a0al. (2008). “Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa”. Am. J. Hum. Genet. 83 (5): 656. doi:10.1016\/j.ajhg.2008.10.005. PMC\u00a02674770. PMID\u00a019068953.Dick DM, Aliev F, Krueger RF,  et\u00a0al. (2010). “Genome-wide association study of conduct disorder symptomatology”. Molecular Psychiatry. 16 (8): 800\u2013808. doi:10.1038\/mp.2010.73. PMC\u00a03580835. PMID\u00a020585324.Strausberg RL, Feingold EA, Grouse LH,  et\u00a0al. (2002). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899\u2013903. Bibcode:2002PNAS…9916899M. doi:10.1073\/pnas.242603899. PMC\u00a0139241. PMID\u00a012477932.Kimura K, Wakamatsu A, Suzuki Y,  et\u00a0al. (2006). “Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes”. Genome Res. 16 (1): 55\u201365. doi:10.1101\/gr.4039406. PMC\u00a01356129. PMID\u00a016344560.Noor A, Windpassinger C, Patel M,  et\u00a0al. (2008). “CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa”. Am. J. Hum. Genet. 82 (4): 1011\u20138. doi:10.1016\/j.ajhg.2008.01.021. PMC\u00a02427291. PMID\u00a018387594.Doherty D, Parisi MA, Finn LS,  et\u00a0al. (2010). “Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)”. J. Med. Genet. 47 (1): 8\u201321. doi:10.1136\/jmg.2009.067249. PMC\u00a03501959. PMID\u00a019574260.Gorden NT, Arts HH, Parisi MA,  et\u00a0al. (2008). “CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290”. Am. J. Hum. Genet. 83 (5): 559\u201371. doi:10.1016\/j.ajhg.2008.10.002. PMC\u00a02668034. PMID\u00a018950740.This article incorporates text from the United States National Library of Medicine, which is in the public domain.  "},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/2019\/12\/25\/cc2d2a-wikipedia\/#breadcrumbitem","name":"CC2D2A – Wikipedia"}}]}]