CC2D2A

CC2D2A
Identifiers
Aliases	CC2D2A , JBTS9, MKS6, coiled-coil and C2 domain containing 2A, COACH2
External IDs	OMIM: 612013 MGI: 1924487 HomoloGene: 18159 GeneCards: CC2D2A
Gene location (Human)
Chr.	Chromosome 4 (human)
End	15,601,552 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	43,740,972 bp
Orthologs
	57545
	231214
	ENSG00000048342
	ENSMUSG00000039765
	Q9P2K1
	Q8CFW7
	NM_001080522 ; NM_001164720 ; NM_020785 ; NM_001378615 ; NM_001378617 Contents Function ; Clinical significance ; References ; External links ; Further reading ;
	NM_172274 ; NM_001359903 ; NM_001359904 ; NM_001359905 ; NM_001359906
	NP_001073991 ; NP_001158192 ; NP_065836 ; NP_001365544 ; NP_001365546
	NP_758478 ; NP_001346832 ; NP_001346833 ; NP_001346834 ; NP_001346835
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 23, 2021

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]

Related Research Articles

Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.

The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.

Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.

McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.

TRIO and F-actin-binding protein is a protein that in humans is encoded by the TRIOBP gene.

Inversin is a protein that in humans is encoded by the INVS gene.

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.

Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.

Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.

Coiled-coil and C2 domain-containing protein 1A is a protein that in humans is encoded by the CC2D1A gene.

Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.

Proline/serine-rich coiled-coil protein 1 is a protein that in humans is encoded by the PSRC1 gene.

Meckelin is a protein that in humans is encoded by the TMEM67 gene.

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.

Bardet–Biedl syndrome 10, also known as BBS10 is a human gene.

Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.

Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.

ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.

Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000048342 - Ensembl, May 2017
1 2 3 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.
1 2 3 "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.

External links

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

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000048342 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 3 "Entrez Gene: coiled-coil and C2 domain containing 2A".

[pmid10718198-6] 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.

[pmid18513680-7] 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.

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v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy