Aliases for CC2D2A Gene
External Ids for CC2D2A Gene
Previous GeneCards Identifiers for CC2D2A Gene
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
GeneCards Summary for CC2D2A Gene
CC2D2A (Coiled-Coil And C2 Domain Containing 2A) is a Protein Coding gene. Diseases associated with CC2D2A include Meckel Syndrome, Type 6 and Joubert Syndrome 9. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. An important paralog of this gene is CC2D2B.
UniProtKB/Swiss-Prot Summary for CC2D2A Gene
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).