CC2D1A

CC2D1A (Coiled-Coil And C2 Domain Containing 1A) is a Protein Coding gene. Diseases associated with CC2D1A include Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (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.

CC2D1A

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.

Negative regulation of snRNA transcription by RNA polymerase II Source: GO_Central
Positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central

Centrosome; Nucleus; Cytoplasm

Mental retardation, autosomal recessive 3 (MRT3): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.

Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD21.