HTR2C

Description

The HTR2C (5-hydroxytryptamine receptor 2C) is a protein-coding gene located on chromosome X.

HTR2C encodes the 5-HT2C receptor, a subtype of the 5-HT2 receptor that binds serotonin. Like other 5-HT2 receptors, it is a GPCR coupled to Gq/G11, mediating excitatory neurotransmission. The gene is located on the X chromosome, meaning polymorphisms can have different effects in males and females due to the repression of one of the two copies in females. The receptor exists as a homodimer at the cell surface. Its crystal structure was determined in 2018. HTR2C is predominantly located in the choroid plexus and, in rats, is also found in high concentrations in other brain regions, including the hippocampus, anterior olfactory nucleus, substantia nigra, brainstem nuclei, amygdala, subthalamic nucleus, and lateral habenula. It is also found on epithelial cells lining the ventricles. Activation of HTR2C by serotonin inhibits dopamine and norepinephrine release in certain brain areas.

HTR2C is a G protein-coupled receptor (GPCR) for serotonin. It also functions as a receptor for various drugs and psychoactive substances, including ergot alkaloid derivatives, DOI (1-2,5,-dimethoxy-4-iodophenyl-2-aminopropane) and LSD (lysergic acid diethylamide). Ligand binding induces a conformational change, triggering signaling via G proteins and modulating downstream effectors. Beta-arrestin family members inhibit signaling through G proteins and activate alternative signaling pathways. Signaling activates a phosphatidylinositol-calcium second messenger system, modulating the activity of phosphatidylinositol 3-kinase and downstream signaling cascades, and promoting the release of Ca(2+) ions from intracellular stores. HTR2C regulates neuronal activity by activating short transient receptor potential calcium channels in the brain, modulating the activation of pro-opiomelacortin neurons and the release of CRH, which in turn regulates corticosterone release. HTR2C plays a role in the regulation of appetite and eating behavior, responses to anxiogenic stimuli and stress, insulin sensitivity, and glucose homeostasis.

HTR2C is also known as 5-HT1C, 5-HT2C, 5-HTR2C, 5HTR2C, HTR1C.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing