CC2D2A

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CC2D2A
Identifiers
Aliases CC2D2A, JBTS9, MKS6, coiled-coil and C2 domain containing 2A
External IDs MGI: 1924487 HomoloGene: 18159 GeneCards: CC2D2A
Genetically Related Diseases
obesity[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001080522
NM_001164720
NM_020785

NM_172274

RefSeq (protein)

NP_001073991
NP_001158192
NP_065836

NP_758478.1
NP_758478

Location (UCSC) Chr 4: 15.47 – 15.6 Mb Chr 5: 43.66 – 43.74 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.[4][5][6]

Function[edit]

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.[4]

Clinical significance[edit]

Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome.[4]

References[edit]

  1. ^ "Diseases that are genetically associated with CC2D2A view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ a b c "Entrez Gene: coiled-coil and C2 domain containing 2A". 
  5. ^ 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. 
  6. ^ 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 2427307Freely accessible. PMID 18513680. 

External links[edit]

Further reading[edit]

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