Gene content  |
| GNAS ( by HUGO) |
| GNAS Complex Locus |
| Oncogene |
| GNAS Complex Locus GNAS1 Guanine Nucleotide Binding Protein (G Protein) Alpha Stimulating Activity Polypeptide 1 Secretogranin VI Adenylate Cyclase-Stimulating G Alpha Protein Alternative Gene Product Encoded By XL-Exon Extra Large Alphas Protein GSP AHO GPSA PHP1A PHP1B PHP1C POH C20orf45 GSA NESP Guanine Nucleotide Regulatory Protein Guanine Nucleotide-Binding Protein G(S) Subunit Alpha Isoforms XLas Neuroendocrine Secretory Protein Protein ALEX NESP55 XLalphas |
| NCBI: 20q13.3 Ensembl: 20q13.32 |
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Subunit: Interacts with the N-terminal region of the XLas isoforms of guanine nucleotide-binding protein G(s) subunit alpha (By similarity) Miscellaneous: This protein is produced by a bicistronic gene which also produces guanine nucleotide-binding protein G(s) subunit alpha from an overlapping reading frame
Function: UniProtKB/Swiss-Prot Summary: ALEX_HUMAN, P84996 Function: 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 UniProtKB/Swiss-Prot: GNAS1_HUMAN, Q5JWF2 Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(s) protein is involved in hormonal regulation of adenylate cyclase: it activates the cyclase in response to beta-adrenergic stimuli. XLas isoforms interact with the same set of receptors as Gnas isoforms (By similarity) UniProtKB/Swiss-Prot: GNAS2_HUMAN, P63092 Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(s) protein is involved in hormonal regulation of adenylate cyclase: it activates the cyclase in response to beta-adrenergic stimuli. Stimulates the Ras signaling pathway via RAPGEF2 Gene Ontology (GO): Selected molecular function terms (see all 11): About this table GO ID Qualified GO term Evidence PubMed IDs GO:0003674 molecular_function ND -- GO:0003924 GTPase activity TAS 9159128 GO:0004016 adenylate cyclase activity TAS -- GO:0004871 signal transducer activity IDA 12391161 GO:0005515 protein binding IPI -- [IMAGE] Find genes that share ontologies with GNAS About GenesLikeMe Phenotypes: 1 GenomeRNAi human phenotype for GNAS: Upregulation of Wnt/beta-caten Selected MGI mutant phenotypes (inferred from 19 alleles[IMAGE]) (MGI details for Gnas) (see all 22): adipose tissue behavior/neurological cardiovascular system cellular craniofacial endocrine/exocrine gland growth/size/body hearing/vestibular/ear hematopoietic system homeostasis/metabolism immune system integument limbs/digits/tail liver/biliary system mortality/aging [IMAGE] Find genes that share phenotypes with GNAS About GenesLikeMe Animal Models: MGI mouse knock-outs for GNAS: Gnastm1Jop Gnastm1Kel Gnastm2.1Lsw Gnastm3Kel Gnastm4Lsw Gnastm1Gwa Gnastm2Kel Gnastm1.2Plag Gnastm1Lsw [IMAGE] inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNAS [IMAGE] inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GNAS [IMAGE] genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNAS [IMAGE] genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNAS miRNA Products: miRTarBase miRNAs that target GNAS: hsa-mir-320a (MIRT044478), hsa-mir-615-3p (MIRT039683), hsa-mir-324-3p (MIRT042911), hsa-mir-155-5p (MIRT020904), hsa-mir-18a-3p (MIRT040832), hsa-mir-17-5p (MIRT051047), hsa-mir-320b (MIRT036192), hsa-mir-331-3p (MIRT043309), hsa-let-7b-5p (MIRT052019) [IMAGE] Block miRNA regulation of human, mouse, rat GNAS using miScript Target Protectors [IMAGE] 1 qRT-PCR Assays for microRNA that regulate GNAS: hsa-miR-155 [IMAGE] SwitchGear 3'UTR luciferase reporter plasmid: GNAS 3' UTR sequence Inhib. RNA Products: [IMAGE] OriGene RNAi products in human, mouse, rat for GNAS [IMAGE] Predesigned siRNA for gene silencing in human, mouse, rat GNAS Gene Editing Products: [IMAGE] DNA2.0 Custom Protein Engineering Service for GNAS Clone Products: [IMAGE] OriGene clones in human, mouse for GNAS (see all 40) OriGene ORF clones in mouse, rat for GNAS OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling [IMAGE] GenScript: all cDNA clones in your preferred vector (see all 7): GNAS (NM_000516) [IMAGE] Sino Biological Human cDNA Clone for GNAS [IMAGE] DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNAS [IMAGE] Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAS Cell Line Products: [IMAGE] GenScript Custom overexpressing Cell Line Services for GNAS [IMAGE] Browse ESI BIO Cell Lines and PureStem Progenitors for GNAS [IMAGE] In Situ Assay Products: [IMAGE] Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAS
Similarity: Belongs to the ALEX family UniProtKB/Swiss-Prot: GNAS1_HUMAN, Q5JWF2 Belongs to the G-alpha family. G(s) subfamily UniProtKB/Swiss-Prot: GNAS2_HUMAN, P63092 Belongs to the G-alpha family. G(s) subfamily UniProtKB/Swiss-Prot: GNAS3_HUMAN, O95467 Belongs
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| Disorder & Mutation |
| Source |
Disease |
| SWISS-PROT | GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. Note=The disease is caused by mutations affecting the gene represented in this entry. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed |
| SWISS-PROT | Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The disease may be caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. Note=The disease is caused by mutations affecting the gene represented in this entry. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed |
| SWISS-PROT | Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | Albright hereditary osteodystrophy (AHO) [MIM:103580]: A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | McCune-Albright syndrome (MAS) [MIM:174800]: Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | Growth hormone-secreting pituitary adenoma (GHSPA) [MIM:102200]: Pituitary adenomas include somatotropinoma and prolactinoma. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | Progressive osseous heteroplasia (POH) [MIM:166350]: Rare autosomal dominant disorder characterized by extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of skeletal muscle and deep connective tissue. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. Note=The disease is caused by mutations affecting the gene represented in this entry. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed |
| SWISS-PROT | GNAS hyperfunction (GNASHYP) [MIM:139320]: This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]: A rare adrenal defect characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry |
| SWISS-PROT | Pseudohypoparathyroidism 1B (PHP1B) [MIM:603233]: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH. Note=The disease is caused by mutations affecting the gene represented in this entry. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed |
