Beta-2-Adrenergic Receptor

Alternative Names

  • ADRB2
  • Beta-Adrenergic Receptor
  • ADRBR
  • Beta-2-Adrenoceptor; BAR
  • B2AR
  • ADRB2R
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OMIM Number

109690

NCBI Gene ID

154

Uniprot ID

P07550

Length

2,013 bases

No. of Exons

1

Protein Name

Beta-2 adrenergic receptor

Molecular Mass

46459 Da

Amino Acid Count

413

Genomic Location

chr5:148,826,610-148,828,622

Gene Map Locus
5q32

Description

This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This receptor is also a transcription regulator of the alpha-synuclein gene, and together, both genes are believed to be associated with risk of Parkinson's Disease. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000024.5:c.46A>GLebanonNC_000005.10:g.148826877=Benign, Risk factorUncertain SignificanceHypertension, EssentialNG_016421.2:g.5285A>G; NM_000024.5:c.46A>G; NP_000015.1:p.Arg16Gly104271317742

Other Reports

Egypt

Hamdy et al. (2002) studied the frequencies of the dipeptidyl carboxypeptidase (DCP1), cholesteryl ester transfer protein (CETP), beta-2 adrenergic receptor (ADRB2), and 5-hydroxy tryptamine 2A receptor (HTR2A) genes in 242 unrelated Egyptian subjects.  In CETPTaqI, the B1 allele had a frequency of 0.65, whereas B2 had 0.35.  Two ADRB2 variants were analyzed.  The p.R16G variant had frequencies of 0.57:0.43 for Arg16:Gly16, respectively.  These frequencies were found to be similar to the Chinese population.  The p.Q27E variant had frequencies of 0.76:0.24 for Gln27:Glu27, respectively.  Such frequencies had similarities with African-American populations with significant differences from Caucasians.  In HTR2A, the 102T>C variant had frequencies of 0.53:0.47 for the T102:C102 variants, respectively; similar to many Caucasian populations and African-Americans.

Palestine

A study by Shachor et al., (2003) focused on the ADRB2 polymorphisms; Arg16Gly and Gln27Glu in the context of asthma.  Twenty nine Palestinians were included in the study, which found no significant difference between the frequency of either Glu27 or Gly16 in asthmatic subjects and controls.  Therefore, the authors concluded that there is no significant impact of these polymorphisms on asthma severity.

Saudi Arabia

Abu-Amero et al. (2006) conducted a study to analyze any potential correlation between the Gln27Glu polymorphism in the β2 adrenoceptor (ADRB2) and coronary artery disease (CAD) risk among Saudis.  Three groups of Saudi individuals were included in the study including 896 healthy individuals (BD group), 773 CAD patients (CAD group), and 528 individuals undergoing surgery for heart valvular disease who reported with chest pain (CON group).  Among the BD group 68.5% were homozygous for C/C wild type, 28.3% were heterozygous C/G, and 3.2% were homozygous for G/G mutant.  In the CAD patients 50.6% were homozygous for C/C wild type, 43.6% were heterozygous C/G, and 5.8% were homozygous for G/G mutant, while among the CON group 71.8% were homozygous for C/C wild type, 24.4% were heterozygous C/G, and 3.8% were homozygous for G/G mutant allele.  These results showed that the frequency of the Glu26 allele was significantly higher among the CAD group, indicating an association between the mutation allele (G) and the risk of CAD.

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