coiled-coil and C2 domain containing 1A
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalautosomal recessive non-syndromic intellectual disability
Smith-Magenis syndrome
Intellectual disability
complex neurodevelopmental disorder
ciliopathy
hereditary disease
autism
Visual impairment
Global developmental delay
cerebral palsy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Coiled-coil and C2 domain-containing protein 1A
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
CC2D1A · Q6P1N0
Mean pLDDT
73.3/ 100
Confident
951 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
