From Wikipedia, the free encyclopedia
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]
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in
cilia formation.
[5]
Mutations in the CC2D2A gene are associated with
Meckel syndrome as well as
Joubert syndrome.
[5]
- ^
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.
- 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.
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10.1038/mp.2010.73.
PMC
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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.