CC2D2A
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.{{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}}{{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| doi-access = free }}{{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 }}
Function
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.
Clinical significance
Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome.
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|doi-access=free }}
- {{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= 800–808 |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|bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
- {{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}}
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{{NLM content}}
{{Ciliary proteins}}
{{gene-4-stub}}