Full Name: Adrenoceptor Beta 2
Genomic Location: Chromosome 5:148,825,245-148,828,687
Protein Size: 413 amino acids
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 gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes.
- rs1042713 is linked to ADRB2, it is located within the coding region of the gene.
- Population frequencies are approximately 58% for the reference allele (G) and 42% for the alternate allele (A).
- Studies suggest the A allele is associated with endurance sports, while the G allele is associated with a beneficial response to low fat diets.
- rs1042714 is linked to ADRB2, it is located within the coding region of the gene.
- Population frequencies are approximately 32% for the reference allele (G) and 68% for the alternate allele (C).
- Studies suggest the C allele is associated with reduced risk for obesity when exercising and eating a healthy diet.