Alpha-2B-Adrenergic Receptor

Alternative Names

  • ADRA2B
  • Alpha-2-Adrenergic Receptor-Like 1
  • ADRA2L1
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OMIM Number

104260

Gene Map Locus
2q11.2

Description

The ADRA2B gene encodes a transmembrane protein belonging to the G protein-coupled family of receptors.  ADRA2B is involved in regulating the release of neurotransmitters, such as norepinephrine and epinephrine, from adrenergic neurons.  By carrying out its function, ADRA2B is believed to play a role in the regulation of smooth muscle contraction and vasoconstriction.

The gene is associated with autosomal-dominant Familial Adult Myoclonic Epilepsy 2 (FAME2), a neurological disorder characterized by involuntary rhythmic myoclonic tremors.  Polymorphisms in the gene have also been associated with an increased risk of Type 2 Diabetes Mellitus (T2DM) and hypertension.  

Molecular Genetics

The ADRA2B gene is located on the long arm of chromosome 2.  It is a 3 kb long intron-less gene.  ADRA2B encodes a protein that is made up of 447 amino acids and has a molecular mass of about 49 kDa.  The gene is highly expressed in the heart.  

A heterozygous insertion/deletion (c.675_686del/ins) in the gene has been associated with FAME2.  In addition, the variant 12Glu9 has been associated with T2DM and hypertension.  

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Al-Hakeem et al. (2016) analyzed the association between an ADRA2B polymorphism and gestational diabetes (GDM) in Saudi women.  A total of 200 pregnant women diagnosed with gestational diabetes were recruited for the study along with 300 pregnant controls.  The polymorphism studied, rs4426564, was located at the 5’ end of exon 1 in the ADRA2B gene and resulted in the 12Glu9 insertion/deletion (I>D) of three consecutive glutamate residues at positions 301-303.  Statistical analysis revealed that the DD genotype was more prevalent in GDM cases (6.5%) compared to controls (2.3%).  The Genotype ID+DD vs II [p=0.0002, OR=2.3(1.48,3.8) and the allele D vs I [p=0.0002, OR=2.3(1.57, 3.6)] were found to be statistically significant in their association with GDM.  The polymorphism was not found to be associated with any other anthropometric or metabolic parameters. 

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