Aliases for GNAS Gene
- GNAS Complex Locus 2 3 5
- Guanine Nucleotide Binding Protein (G Protein), Alpha Stimulating Activity Polypeptide 1 2 3
- Adenylate Cyclase-Stimulating G Alpha Protein 3 4
- Alternative Gene Product Encoded By XL-Exon 3 4
- Extra Large Alphas Protein 3 4
- G Protein Subunit Alpha S 2 3
- Secretogranin VI 2 3
- GNAS1 3 4
- GSP 3 4
- Guanine Nucleotide-Binding Protein G(S) Subunit Alpha Isoforms XLas 3
- Guanine Nucleotide Regulatory Protein 3
- Neuroendocrine Secretory Protein 3
- Protein SCG6 (Secretogranin VI) 3
External Ids for GNAS Gene
Previous HGNC Symbols for GNAS Gene
Previous GeneCards Identifiers for GNAS Gene
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]
GeneCards Summary for GNAS Gene
GNAS (GNAS Complex Locus) is a Protein Coding gene. Diseases associated with GNAS include Mccune-Albright Syndrome, Somatic, Mosaic and Pseudohypoparathyroidism Ia. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAL.
May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame.
Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity).
Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161).
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.