CC2D2A explained

Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.^{[1] [2] [3]}

Function

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.^[1]

Clinical significance

Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome.^[1]

Further reading

• Mougou-Zerelli S, Thomas S, Szenker E . CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. . Hum. Mutat. . 30 . 11 . 1574–82 . 2009 . 19777577 . 10.1002/humu.21116 . 2783384 . etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Noor A, Windpassinger C, Patel M . 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 . 2008 . 19068953 . 10.1016/j.ajhg.2008.10.005. 2674770 . etal.
• Dick DM, Aliev F, Krueger RF . Genome-wide association study of conduct disorder symptomatology . Molecular Psychiatry . 16. 8. 800–808 . 2010 . 20585324 . 10.1038/mp.2010.73 . etal. 3580835.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . etal. free .
• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129. etal.
• Noor A, Windpassinger C, Patel M . 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 . 2008 . 18387594 . 10.1016/j.ajhg.2008.01.021 . 2427291 . etal.
• Doherty D, Parisi MA, Finn LS . Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) . J. Med. Genet. . 47 . 1 . 8–21 . 2010 . 19574260 . 10.1136/jmg.2009.067249 . 3501959. etal.
• Gorden NT, Arts HH, Parisi MA . CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 . Am. J. Hum. Genet. . 83 . 5 . 559–71 . 2008 . 18950740 . 10.1016/j.ajhg.2008.10.002 . 2668034 . etal.

Notes and References

1. Web site: Entrez Gene: coiled-coil and C2 domain containing 2A.
2. Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O . 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 . February 2000 . 10718198 . 10.1093/dnares/7.1.65. free .
3. Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M . Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle . Am. J. Hum. Genet. . 82 . 6 . 1361–7 . June 2008 . 18513680 . 2427307 . 10.1016/j.ajhg.2008.05.004 .