View source for CC2D2A

{{Infobox_gene}}
'''Coiled-coil and C2 domain-containing protein 2A''' that in humans is encoded by the ''CC2D2A'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: coiled-coil and C2 domain containing 2A| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57545| accessdate = }}</ref><ref name="pmid10718198">{{cite journal |vauthors=Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O | title = 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 | journal = DNA Res. | volume = 7 | issue = 1 | pages = 65–73 |date=February 2000 | pmid = 10718198 | doi = 10.1093/dnares/7.1.65| url = | issn = }}</ref><ref name="pmid18513680">{{cite journal |vauthors=Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M | title = Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle | journal = Am. J. Hum. Genet. | volume = 82 | issue = 6 | pages = 1361–7 |date=June 2008 | pmid = 18513680 | pmc = 2427307 | doi = 10.1016/j.ajhg.2008.05.004 | url = | issn = }}</ref>

==Function ==

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in [[cilia]] formation.<ref name="entrez"/>

== Clinical significance ==

Mutations in the CC2D2A gene are associated with [[Meckel syndrome]] as well as [[Joubert syndrome]].<ref name="entrez"/>

==References==
{{reflist}}

==External links==
* {{UCSC gene info|CC2D2A}}

==Further reading==
{{refbegin | 2}}
*{{cite journal  |vauthors=Mougou-Zerelli S, Thomas S, Szenker E |title=CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. |journal=Hum. Mutat. |volume=30 |issue= 11 |pages= 1574–82 |year= 2009 |pmid= 19777577 |doi= 10.1002/humu.21116  |pmc=2783384 |display-authors=etal}}
*{{cite journal  |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  |vauthors=Noor A, Windpassinger C, Patel M |title=Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa |journal=Am. J. Hum. Genet. |volume=83 |issue= 5 |pages= 656 |year= 2008 |pmid= 19068953 |doi=  10.1016/j.ajhg.2008.10.005|pmc=2674770  |display-authors=etal}}
*{{cite journal  |vauthors=Dick DM, Aliev F, Krueger RF |title=Genome-wide association study of conduct disorder symptomatology |journal=Molecular Psychiatry |volume= 16|issue=  8|pages= HASH(0x24d8b30) |year= 2010 |pmid= 20585324 |doi= 10.1038/mp.2010.73 |display-authors=etal|pmc=3580835}}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|display-authors=etal}}
*{{cite journal  |vauthors=Kimura K, Wakamatsu A, Suzuki Y |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 |pmc=1356129|display-authors=etal}}
*{{cite journal  |vauthors=Noor A, Windpassinger C, Patel M |title=CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa |journal=Am. J. Hum. Genet. |volume=82 |issue= 4 |pages= 1011–8 |year= 2008 |pmid= 18387594 |doi= 10.1016/j.ajhg.2008.01.021  |pmc=2427291 |display-authors=etal}}
*{{cite journal  |vauthors=Doherty D, Parisi MA, Finn LS |title=Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) |journal=J. Med. Genet. |volume=47 |issue= 1 |pages= 8–21 |year= 2010 |pmid= 19574260 |doi= 10.1136/jmg.2009.067249 |pmc=3501959|display-authors=etal}}
*{{cite journal  |vauthors=Gorden NT, Arts HH, Parisi MA |title=CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 |journal=Am. J. Hum. Genet. |volume=83 |issue= 5 |pages= 559–71 |year= 2008 |pmid= 18950740 |doi= 10.1016/j.ajhg.2008.10.002  |pmc=2668034 |display-authors=etal}}
{{refend}}

{{NLM content}}
{{Ciliary proteins}}


{{gene-4-stub}}