CC2D1A (coiled-coil and C2 domain containing 1A) is a multifunctional scaffold protein that plays critical roles in neurodevelopment and cellular signaling. The protein functions as a transcriptional repressor of the HTR1A (serotonin-1A receptor) gene, binding to specific DNA elements and mediating calcium-dependent regulation of transcription 1. CC2D1A exhibits diverse subcellular localizations with distinct functions: when nuclear, it acts as a transcriptional repressor; when cytoplasmic, it serves as a scaffold in PI3K/AKT signaling pathways; and in centrosomes, it regulates spindle pole organization during mitosis. Recent studies have revealed a crucial role in ciliogenesis, with CC2D1A expression in ciliated tissues including the brain's ventricular zone, kidney, and left-right organizer 2. Loss of CC2D1A function disrupts primary cilia formation and cerebrospinal fluid circulation 2. The protein also regulates NF-ΞΊB signaling homeostasis, with both gain and loss of function increasing NF-ΞΊB activation 3. Proteomic analyses identify CC2D1A as uniquely enriched in postsynaptic compartments, interacting with proteins involved in RNA regulation and synaptic function 4. Biallelic loss-of-function mutations cause autosomal recessive intellectual disability, often accompanied by autism spectrum disorder, seizures, and heterotaxy 35, highlighting its essential role in neurodevelopmental processes.
No tissue expression data available for this gene.