Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Beta-2 adrenergic receptor

The ADRB2 encodes the beta-2-adrenergic receptor. Mutations can cause obesity which follows a dominant model. Also synergistic effects with mutations in other genes have to be taken into account. Also mutations have an effect on responsiveness to beta-2 agonists and the susceptibility to nocturnal asthma.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Reduced response to beta-2-adrenoreceptor agonist
ADRB2
Susceptibility to nocturnal asthma
ADRB2
Susceptibility to obesity
ADRB2
ADRB3
CARTPT
ENPP1
GHRL
PPARGC1B
SDC3
UCP1

References:

1.

Tsai HJ et al. (2006) Beta 2-adrenergic receptor polymorphisms: pharmacogenetic response to bronchodilator among African American asthmatics.

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2.

Meirhaeghe A et al. (2001) The effect of the Gly16Arg polymorphism of the beta(2)-adrenergic receptor gene on plasma free fatty acid levels is modulated by physical activity.

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3.

Corbalán MS et al. (2002) The 27Glu polymorphism of the beta2-adrenergic receptor gene interacts with physical activity influencing obesity risk among female subjects.

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4.

Bachman ES et al. (2002) betaAR signaling required for diet-induced thermogenesis and obesity resistance.

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5.

Evans WE et al. (2003) Pharmacogenomics--drug disposition, drug targets, and side effects.

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6.

Harrison T et al. (2003) Erythrocyte G protein-coupled receptor signaling in malarial infection.

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7.

Dallongeville J et al. (2003) The Gly16>Arg16 and Gln27>Glu27 polymorphisms of beta2-adrenergic receptor are associated with metabolic syndrome in men.

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8.

Odley A et al. (2004) Regulation of cardiac contractility by Rab4-modulated beta2-adrenergic receptor recycling.

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9.

Dishy V et al. (2004) Beta2-adrenoceptor Thr164Ile polymorphism is associated with markedly decreased vasodilator and increased vasoconstrictor sensitivity in vivo.

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10.

Israel E et al. () Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial.

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11.

Elefteriou F et al. (2005) Leptin regulation of bone resorption by the sympathetic nervous system and CART.

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12.

Contopoulos-Ioannidis DG et al. (2005) Meta-analysis of the association of beta2-adrenergic receptor polymorphisms with asthma phenotypes.

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13.

Lönnqvist F et al. (1992) Lipolytic catecholamine resistance due to decreased beta 2-adrenoceptor expression in fat cells.

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14.

Rasmussen SG et al. (2007) Crystal structure of the human beta2 adrenergic G-protein-coupled receptor.

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15.

Rosenbaum DM et al. (2007) GPCR engineering yields high-resolution structural insights into beta2-adrenergic receptor function.

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16.

Cherezov V et al. (2007) High-resolution crystal structure of an engineered human beta2-adrenergic G protein-coupled receptor.

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17.

Cagliani R et al. (2009) Diverse evolutionary histories for beta-adrenoreceptor genes in humans.

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18.

Nikolaev VO et al. (2010) Beta2-adrenergic receptor redistribution in heart failure changes cAMP compartmentation.

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19.

Wilson RH et al. (2010) Evolutionary history of the ADRB2 gene in humans.

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20.

Coureuil M et al. (2010) Meningococcus Hijacks a β2-adrenoceptor/β-Arrestin pathway to cross brain microvasculature endothelium.

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21.

Rasmussen SG et al. (2011) Structure of a nanobody-stabilized active state of the β(2) adrenoceptor.

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22.

Rosenbaum DM et al. (2011) Structure and function of an irreversible agonist-β(2) adrenoceptor complex.

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23.

Rasmussen SG et al. (2011) Crystal structure of the β2 adrenergic receptor-Gs protein complex.

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24.

Chung KY et al. (2011) Conformational changes in the G protein Gs induced by the β2 adrenergic receptor.

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25.

Davare MA et al. (2001) A beta2 adrenergic receptor signaling complex assembled with the Ca2+ channel Cav1.2.

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26.

Ni Y et al. (2006) Activation of beta2-adrenergic receptor stimulates gamma-secretase activity and accelerates amyloid plaque formation.

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27.

Oakey RJ et al. (1991) Genomic organization of adrenergic and serotonin receptors in the mouse: linkage mapping of sequence-related genes provides a method for examining mammalian chromosome evolution.

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28.

Szefler SJ et al. (1991) Plasma histamine, epinephrine, cortisol, and leukocyte beta-adrenergic receptors in nocturnal asthma.

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29.

Yang-Feng TL et al. (1990) Chromosomal organization of adrenergic receptor genes.

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30.

Emorine LJ et al. (1987) Structure of the gene for human beta 2-adrenergic receptor: expression and promoter characterization.

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31.

Fraser CM et al. (1988) Site-directed mutagenesis of human beta-adrenergic receptors: substitution of aspartic acid-130 by asparagine produces a receptor with high-affinity agonist binding that is uncoupled from adenylate cyclase.

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32.

Kobilka BK et al. (1987) cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor.

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33.

Kobilka BK et al. () An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins.

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34.

Sheppard JR et al. (1983) Chromosomal assignment of the gene for the human beta 2-adrenergic receptor.

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35.

Turki J et al. (1995) Genetic polymorphisms of the beta 2-adrenergic receptor in nocturnal and nonnocturnal asthma. Evidence that Gly16 correlates with the nocturnal phenotype.

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36.

Reihsaus E et al. (1993) Mutations in the gene encoding for the beta 2-adrenergic receptor in normal and asthmatic subjects.

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37.

Dewar JC et al. (1997) The glutamine 27 beta2-adrenoceptor polymorphism is associated with elevated IgE levels in asthmatic families.

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38.

Large V et al. (1997) Human beta-2 adrenoceptor gene polymorphisms are highly frequent in obesity and associate with altered adipocyte beta-2 adrenoceptor function.

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39.

Martinez FD et al. (1997) Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing.

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40.

Hopes E et al. (1998) Association of glutamine 27 polymorphism of beta 2 adrenoceptor with reported childhood asthma: population based study.

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41.

Krushkal J et al. (1998) Linkage and association of adrenergic and dopamine receptor genes in the distal portion of the long arm of chromosome 5 with systolic blood pressure variation.

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42.

Luttrell LM et al. (1999) Beta-arrestin-dependent formation of beta2 adrenergic receptor-Src protein kinase complexes.

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43.

Yamada K et al. (1999) Polymorphism in the 5'-leader cistron of the beta2-adrenergic receptor gene associated with obesity and type 2 diabetes.

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44.

Rohrer DK et al. (1999) Cardiovascular and metabolic alterations in mice lacking both beta1- and beta2-adrenergic receptors.

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45.

Maurice JP et al. (1999) Enhancement of cardiac function after adenoviral-mediated in vivo intracoronary beta2-adrenergic receptor gene delivery.

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46.

Drysdale CM et al. (2000) Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness.

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47.

Shenoy SK et al. (2001) Regulation of receptor fate by ubiquitination of activated beta 2-adrenergic receptor and beta-arrestin.

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48.

OMIM.ORG article

Omim 109690 external link
49.

NCBI article

NCBI 154 external link
50.

Wikipedia article

Wikipedia EN (Beta-2_adrenergic_receptor) external link
Update: Aug. 14, 2020
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