GeneID: 117



Names

Common Name: ADRB2 Type: Gene
Chromosome: 5 (NC_000005.10) Locus: NG_016421.1 (ADRB2)
HUGO Symbol: ADRB2 Full Name: adrenoceptor beta 2
Exons: 1 Introns: N/A

Description:
This gene encodes the beta2-adrenergic receptor (ADRB2), member of the family of G protein-coupled adrenoreceptors and part of the sympathetic nervous system that participates in a fight-or-flight response upon danger. The encoded protein is expressed predominantly in the bronchial smooth muscle, where in mediates bronchodilation upon activation, as well as on cardiac myocytes and vascular smooth muscle cells. It mainly binds to epinephrine, and unlike other adrenergic receptors, it responds poorly to norepinephrine stimulation. Ligand-stimulated ADRB2 receptors signal via G-proteins coupled to adenylate cyclase in order to generate the second messenger cyclic AMP (cAMP) and activate downstream cAMP-dependent protein kinases. This gene is intronless encoding a 413-amino-acid protein. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes. Polymorphisms in this gene were shown to affect red blood cell adhesion to laminin and also associated with stroke in sickle cell patients.

Synonyms: BAR , B2AR , ADRBR , ADRB2R , BETA2AR

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Hoppe C, Klitz W, Cheng S, Apple R, Steiner L, Robles L, Girard T, Vichinsky E, Styles L, , Gene interactions and stroke risk in children with sickle cell anemia., Blood , 103(6), 2391-6, 2004 PubMed
  2. Taylor MR, Pharmacogenetics of the human beta-adrenergic receptors., Pharmacogenomics J. , 7(1), 29-37, 2007 PubMed
  3. Hoppe C, Klitz W, D'Harlingue K, Cheng S, Grow M, Steiner L, Noble J, Adams R, Styles L, , Confirmation of an association between the TNF(-308) promoter polymorphism and stroke risk in children with sickle cell anemia., Stroke , 38(8), 2241-6, 2007 PubMed
  4. Eyler CE, Jackson T, Elliott LE, De Castro LM, Jonassaint J, Ashley-Koch A, Telen MJ, beta(2)-Adrenergic receptor and adenylate cyclase gene polymorphisms affect sickle red cell adhesion., Br. J. Haematol. , 141(1), 105-8, 2008 PubMed
  5. Flanagan JM, Frohlich DM, Howard TA, Schultz WH, Driscoll C, Nagasubramanian R, Mortier NA, Kimble AC, Aygun B, Adams RJ, Helms RW, Ware RE, Genetic predictors for stroke in children with sickle cell anemia., Blood , 117(24), 6681-4, 2011 PubMed
Created on 2016-04-27 14:42:21, Last reviewed on 2016-04-27 14:46:04 (Show full history)


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