CC2D2A Back

coiled-coil and C2 domain containing 2A

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NCBI Description of CC2D2A

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.

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


CC2D2A is highly significantly mutated in
CC2D2A is significantly mutated in
CC2D2A is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for CC2D2A