Protein-coding gene in the species Homo sapiens
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene .[5] [6] [7]
Function
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.[5]
Clinical significance
Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome .[5]
References
^ 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): 65–73. doi :10.1093/dnares/7.1.65 . PMID 10718198 .
^ Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä 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): 1361–7. doi :10.1016/j.ajhg.2008.05.004 . PMC 2427307 . PMID 18513680 .
External links
Further reading
Mougou-Zerelli S, Thomas S, Szenker E, et al. (2009). "CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation" . Hum. Mutat . 30 (11): 1574–82. doi :10.1002/humu.21116 . PMC 2783384 . PMID 19777577 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 . PMID 14702039 .
Noor A, Windpassinger C, Patel M, et al. (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 2674770 . PMID 19068953 .
Dick DM, Aliev F, Krueger RF, et al. (2010). "Genome-wide association study of conduct disorder symptomatology" . Molecular Psychiatry . 16 (8): 800–808. doi :10.1038/mp.2010.73 . PMC 3580835 . PMID 20585324 .
Strausberg RL, Feingold EA, Grouse LH, et al. (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): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 . PMC 139241 . PMID 12477932 .
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Res . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 . PMID 16344560 .
Noor A, Windpassinger C, Patel M, et al. (2008). "CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa" . Am. J. Hum. Genet . 82 (4): 1011–8. doi :10.1016/j.ajhg.2008.01.021 . PMC 2427291 . PMID 18387594 .
Doherty D, Parisi MA, Finn LS, et al. (2010). "Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)" . J. Med. Genet . 47 (1): 8–21. doi :10.1136/jmg.2009.067249 . PMC 3501959 . PMID 19574260 .
Gorden NT, Arts HH, Parisi MA, et al. (2008). "CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290" . Am. J. Hum. Genet . 83 (5): 559–71. doi :10.1016/j.ajhg.2008.10.002 . PMC 2668034 . PMID 18950740 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
This page was last edited on 6 March 2022, at 01:09