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CC2D2A

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

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	15,469,865bp^[1]
Band	4p15.32	End	15,601,552bp^[1]

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)^[2]

Band	5\|5 B3	Start	43,662,346bp^[2]
Band	5\|5 B3	End	43,740,972bp^[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 theCC2D2Agene.^[5]^[6]^[7]

Function

[edit]

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role incilia formation.^[5]

Clinical significance

[edit]

Mutations in the CC2D2A gene are associated withMeckel syndrome as well asJoubert syndrome.^[5]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000048342 –Ensembl, May 2017
^^a ^b ^cGRCm38: 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.

External links

[edit]

HumanCC2D2A genome location andCC2D2A gene details page in theUCSC 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.

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

v t e Ciliaryproteins
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

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