CC2D2A

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.[1][2][3]

Function

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.[1]

Clinical significance

Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome.[1]

References

  1. 1.0 1.1 1.2 "Entrez Gene: coiled-coil and C2 domain containing 2A".
  2. 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.
  3. 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

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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