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Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A)

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MKS6; JBTS9; Meckel Syndrome,Type 6

Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A)
CCC M808
HGNC 29253
MGI 1924487
PubMed 18950740
UniProt Q9P2K1
Wiki CC2D2A
CC2D2A contains 3 putative coiled-coil domains, a C-terminal C2 domain, and potential CaMKII recognition sites, PKC phosphorylation sites, and 2 putative nuclear localization signals. CC2D2A shares 84.8% amino acid identity with its rodent homologs. In COS-7 cells, overexpressed CC2D2A-GFP fusion protein localized almost exclusively to the cytoplasmic fraction, despite the predicted presence of potential nuclear localization signals.
The deduced protein contains 1,532 amino acids. RT-PCR detected moderate CC2D2A expression in ovary, lung, brain, liver, kidney, testis, and all specific adult brain regions examined. Low expression was detected in fetal brain and adult heart, and little to no expression was detected in fetal liver and adult skeletal muscle, pancreas, and spleen.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Coiled Coil And C2 Domain Containing Protein 2A (CC2D2A) ELISA Kit Customized Service Offer
  1. "Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle."Am. J. Hum. Genet. 82:1361-1367(2008) [PubMed] [Europe PMC] [Abstract]
  2. "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. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa."Am. J. Hum. Genet. 82:1011-1018(2008) [PubMed] [Europe PMC] [Abstract]
  7. ErratumAm. J. Hum. Genet. 83:656-656(2008) [PubMed] [Europe PMC] [Abstract]
  8. "CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation." Hum. Mutat. 30:1574-1582(2009) [PubMed] [Europe PMC] [Abstract]
  9. "CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290." Am. J. Hum. Genet. 83:559-571(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?"Hum. Mutat. 30:E813-E830(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)." J. Med. Genet. 47:8-21(2010) [PubMed] [Europe PMC] [Abstract]
  12. "Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population."Am. J. Hum. Genet. 90:693-700(2012) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations in TMEM231 cause Joubert syndrome in French Canadians."J. Med. Genet. 49:636-641(2012) [PubMed] [Europe PMC] [Abstract]
  14. "CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium." Nat. Genet. 44:193-199(2012) [PubMed] [Europe PMC] [Abstract]