CC2D1A Back

coiled-coil and C2 domain containing 1A

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NCBI Description of CC2D1A

This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.

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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).


Legend

CC2D1A is highly significantly mutated in
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CC2D1A is significantly mutated in
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CC2D1A is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for CC2D1A