Aliases for CC2D1A Gene
- Coiled-Coil And C2 Domain Containing 1A 2 3 5
- Five Prime Repressor Element Under Dual Repression-Binding Protein 1 3 4
- Mental Retardation, Nonsyndromic, Autosomal Recessive, 3 2 3
- Putative NF-Kappa-B-Activating Protein 023N 3 4
- FRE Under Dual Repression-Binding Protein 1 3 4
- Akt Kinase-Interacting Protein 1 3 4
- FREUD-1 3 4
External Ids for CC2D1A Gene
Previous GeneCards Identifiers for CC2D1A Gene
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.[provided by RefSeq, Oct 2009]
GeneCards Summary for CC2D1A Gene
CC2D1A (Coiled-Coil And C2 Domain Containing 1A) is a Protein Coding gene. Diseases associated with CC2D1A include Autosomal Recessive Non-Syndromic Intellectual Disability and Non-Syndromic Intellectual Disability. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. GO annotations related to this gene include signal transducer activity and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is CC2D1B.
UniProtKB/Swiss-Prot for CC2D1A Gene
Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis.