GNAS cDNA Clone – GNAS Complex Locus (Human)

This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also 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 encoding different isoforms have been found for this gene. 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. [provided by RefSeq, Aug 2012]

G-alpha(s): a guanine nucleotide-binding protein of the G12 class of G-alpha proteins. Agonist binding to Gq-coupled receptors may block Akt activation via the release of active G-alpha(q) subunits that inhibit phosphatidylinositol 3-kinase. Heterotrimeric G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.

Protein type: G protein; G protein, heterotrimeric; G protein, heterotrimeric alpha G(s); Membrane protein, peripheral; Oncoprotein; Vesicle

Chromosomal Location of Human Ortholog: 20q13.3

Cellular Component: cytosol; membrane

Molecular Function: beta-2 adrenergic receptor binding; corticotropin-releasing hormone receptor 1 binding; D1 dopamine receptor binding; insulin-like growth factor receptor binding; ionotropic glutamate receptor binding; mu-type opioid receptor binding; protein binding

Biological Process: cognition; developmental growth; dopamine receptor, adenylate cyclase activating pathway; G-protein signaling, adenylate cyclase activating pathway; sensory perception of chemical stimulus

Disease: Acth-independent Macronodular Adrenal Hyperplasia; Mccune-albright Syndrome; Osseous Heteroplasia, Progressive; Pituitary Adenoma, Growth Hormone-secreting; Pseudohypoparathyroidism, Type Ia; Pseudohypoparathyroidism, Type Ib; Pseudohypoparathyroidism, Type Ic; Pseudopseudohypoparathyroidism