Guanine nucleotide binding protein alpha stimulating activity polypeptide 1
Guanine nucleotide binding protein G(s) subunit alpha isoforms short
Guanine nucleotide binding protein G(s) subunit alpha isoforms XLas
Guanine nucleotide regulatory protein
RelevanceADBR2 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 contains no introns in either its coding or untranslated sequences. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes. Expression of the beta 2 Adrenergic Receptor has been reported in adipose, blood, brain, heart, lung, nose, pancreas, skeletal muscle, skin, and vessel.
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The Gs protein is involved in hormonal regulation of adenylate cyclase: it activates the cyclase in response to beta-adrenergic stimuli.
Alternative splicing of downstream exons of the GNAS gene is observed, which results in different forms of the stimulatory G protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors.