GeneID: 302

Description:
The HTR2A gene encodes the serotonin 2A receptor (5-HT2A), a G-protein-coupled receptor with considerable expression in various regions of the central nervous system (CNS). Ligand binding causes a conformation change that triggers signalling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors. Serotonin is a neurotransmitter critical for CNS development and function. It is also involved in the regulation of gastrointestinal motility and in haemostasis on platelets. Abnormal 5-HT2A receptor activity is associated with a number of psychiatric disorders and conditions, including depression, schizophrenia, and drug addiction. Genetic variance in HTRA2 gene associated with acute chest syndrome (ACS) in patients with sickle cell disease. ACS is a form of acute lung injury caused by vaso-occlusion within the pulmonary microvasculature. Etiologies either trigger vaso-occlusion (e.g., infection, asthma, hypoventilation) or are a result of vaso-occlusion (e.g., bone marrow and fat emboli).

Synonyms: 5-HT2A , HTR2

Comments:
N/A

Number of entries/variants: 1

1. Melton CW, Haynes J, Sickle acute lung injury: role of prevention and early aggressive intervention strategies on outcome., Clin. Chest Med., 27(3), 487-502, vii, 2006 PubMed
2. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
3. Zhang G, Stackman RW, The role of serotonin 5-HT2A receptors in memory and cognition., Front Pharmacol, 6(0), 225, 2015 PubMed