CC2D2A

CC2D2A
Identifiers
Aliases	CC2D2A , JBTS9, MKS6, coiled-coil and C2 domain containing 2A, COACH2, RP93
External IDs	OMIM: 612013; MGI: 1924487; HomoloGene: 18159; GeneCards: CC2D2A; OMA:CC2D2A - orthologs
Gene location (Human) Chr. Chromosome 4 (human) [1] Band 4p15.32 Start 15,469,865 bp [1] End 15,601,552 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 B3 Start 43,662,346 bp [2] End 43,740,972 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell ventricular zone Achilles tendon olfactory zone of nasal mucosa epithelium of colon sural nerve right coronary artery ganglionic eminence popliteal artery Top expressed in retinal pigment epithelium pituitary gland otolith organ utricle ciliary body iris neural layer of retina autopod region foot hand More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 57545 231214 Ensembl ENSG00000048342 ENSMUSG00000039765 UniProt Q9P2K1 Q8CFW7 RefSeq (mRNA) NM_001080522 NM_001164720 NM_020785 NM_001378615 NM_001378617 NM_172274 NM_001359903 NM_001359904 NM_001359905 NM_001359906 RefSeq (protein) NP_001073991 NP_001158192 NP_065836 NP_001365544 NP_001365546 NP_758478 NP_001346832 NP_001346833 NP_001346834 NP_001346835 Location (UCSC) Chr 4: 15.47 – 15.6 Mb Chr 5: 43.66 – 43.74 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000048342 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000039765 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: coiled-coil and C2 domain containing 2A".
6. 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.
7. 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

• Human CC2D2A genome location and CC2D2A gene details page in the UCSC Genome Browser .

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.