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Validated All-in-One™ qPCR Primer for GNAS(NM_000516.5) Search again
Product ID:
HQP007755
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI
Gene Description:
GNAS complex locus
Target Gene Accession:
NM_000516.5(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
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 contains a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression.
Gene References into function
- Genetic variaion of the extra-large stimulatory G protein alpha subunit leads to GS hyperfunction in platelets and is a risk factor for bleeding.
- GTP-binding proteins G(salpha), G(ialpha), and Ran identified in mitochondria of human placenta
- Paternally inherited inactivating GNAS1 mutations cause progessive osseous heteroplasia (POH).
- Polymorphisms of genes encoding Gs protein alpha-subunit as risk factors for orthostatic hypotension.
- mutational analysis of the GNAS1 gene is a strong supportive tool for the diagnosis of pseudohypoparathyroidism type 1a
- These data provide new evidence that involves the helical domain as a regulator of Gs(alpha) function, in this case the alphaA helix, which is not directly involved with the nucleotide binding site nor the interdomain interface.
- beta1-adrenoceptor and beta2-adrenoceptor couple to Gs-proteins to activate adenylyl cyclase
- mutations and imprinting defects in disease -review
- McCune-Albright syndrome is a rare disease caused by somatic postzygotic mutations at Arg201 in the GNAS1 gene that encodes for the Gsalpha protein
- Association of GNAS1 gene variant with hypertension depending on smoking status
- evidence for a predominant maternal origin of GNAS1 transcripts in different human adult endocrine tissues, particularly thyroid, ovary, and pituitary
- Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.
- linkage at 20q13.3 in pseudohypoparathyroidism type 1b
- wide mutation heterogeneity of pseudohypoparathyroidism and pseudohypoparathyroidism type-Ia.
- Overlapping transcripts of this protein identify the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy.
- gnas1 gene mutations were identified in subjects with fibrous dysplasia of bone
- Neuroendocrine secretory protein 55 is found in a subset of neuroendocrine tumours showing differentiation towards adrenal chromaffin cells and pancreatic islets cells and not in ileal carcinoids
- allelic expression and methylation of CpG islands within exon 1A of GNAS1 in patients with sporadic pseudohypoparathyroidism type 1b, consistent with a maternal imprinting defect
- a significant interaction between GNAS1 polymorphism and drinking status in the association with pulse pressure, reflected by a significant association between the T393C polymorphism and pulse pressure in moderate to heavy drinkers
- patients with pseudohypoparathyroidism Ia display variable degrees of growth hormone-releasing hormone resistance, consistent with Gs alpha imprinting in human pituitary
- the stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands which has: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B
- molecular analysis revealed that foci of malignancy and adjacent areas of hyperplasia and some areas of normal thyroid harbored activating mutations of Arg(201) in the GNAS1 gene
- GNAS1 mutated stromal cells produce IL-6 at a basal magnitude and rate that are significantly higher than in the cognate wild-type cells
- findings show that signaling via the erythrocyte beta2-adrenergic receptor and heterotrimeric guanine nucleotide-binding protein (Galphas) regulated the entry of the human malaria parasite Plasmodium falciparum
- Transgenic mice expressing an active form of Gs alpha exhibit selective deficits in prepulse inhibition (PPI) without exhibiting alterations in the startle response.
- Disturbances of post-receptor trans-membrane signalling in Alzheimer's disease can be attributed to functional changes of G(salpha), independent of alterations in levels in normal aging.
- Iloprost stimulation (1 microM, 2 h) of IP prostanoid receptor expressed in HEK293 cells resulted in specific decrease of endogenous G(s)alpha protein in detergent-insensitive, caveolin-enriched, membrane domains
- Cluster analysis in subjects with the same genotypes did not generally show a genotype/phenotype correlation.
- Missense point mutations in the GNAS1 gene, located on the long arm of chromosome 20 and encoding for the alpha subunited of G(s)(the G protein that stimulated cyclic AMP) of transmembrane glycoprotein receptors, have been identified.
- Mutation in 33% of the 39 cases of isolated peripheral precocious puberty.
- Data report that the XL exon of Gsalpha is longer than presumed an additional 139 codons to XLalphas.
- isolated hyperfunctioning thyroid and adrenal adenomas displayed the mutation on the maternal and paternal alleles, respectively
- G alpha S has a role in thyroid-stimulating hormone receptor activation of cAMP production and inositol 1,4,5-trisphosphate turnover
- Expression of sensitization of adenyl cyclase 1 involves Galpha(s)-adenylyl cyclase interactions.
- Structure analysis showed that disruption of the salt bridge between R165 and E168 by the introduced mutations in Galpha subunits, caused important structural changes in the helical domain at the alphaD-alphaE loop (residues 160-175)
- suggested that the GNAS1 T393C polymorphism is associated with ANS activity in youth and may be useful as a genetic marker for hypertension
- Familial and sporadic forms of Pseudohypoparathyroidism type IB have distinct GNAS imprinting patterns that occur through different defects in the imprinting mechanism.
- GNAS T393C (rs7121) localizes to a recombination hotspot not in linkage disequilibrium with the rest of GNAS gene locus
- GSPalpha mutations have a role in progression of acromegaly in Mexican patients
- Pseudohypoparathyroidism is caused by heterozygous inactivating mutations in exons of GNAS encoding alpha subunit of Gsalpha. Autosomal dominant form caused by heterozygous mutations disrupting long-range imprinting control element of GNAS. (Review)
- analysis of Galpha(i1) bound to a GDP-selective peptide
- In human myometrium, repression of the Galphas gene by NF-kappaB occurs through a non-DNA binding mechanism involving competition for limiting amounts of cellular coactivator proteins including cAMP response element binding protein binding protein.
- the GNAS1 T393C status could influence susceptibility for deficit schizophrenia in Italian subjects.
- Regulation of Gsalpha protein by Runx2 seems to be of particular interest considering the increasing evidences on bone metabolism regulation by G proteins
- mutations that typically inactivate Gsalpha also impair XLalphas activity, consistent with a possible role for XLalphas deficiency in diseases caused by paternal GNAS mutations
- How imprinting of Gnas was discovered, the phenotypic consequences of mutations in each of the gene products, both in the mouse and human, and provide some conjectures to explain why this elaborate imprinted locus has evolved in this manner in mammals.
- Article reviews data from the literature to investigate whether patient inclusion criteria for GNAS1 analysis, the molecular methods used to search for R201 mutations, and the type of tissues analysed, can influence the mutation detection rate in MAS.
- This review summarizes the role of the Gs-alpha protein in pseudohypoparathyroidism.
- Pseudohypoparathyroidism (PHP) types Ia and Ic result from heterozygous inactivating mutations of Gs alpha, the alpha-subunit of the heterotrimeric stimulatory G-protein, Gs. More than 100 mutations have been characterized.
- Review of different types of pseudohypoparathyroidism and the variety of GNAS mutations found associated with these types.
- Patients with Albright's hereditary osteodystrophy were screened for underlying GNAS1 mutations.
- dopamine receptor type 1 and GNAS loci contribute to blood pressure regulation at rest
- STAT3 activation by G alpha(s) distinctively requires protein kinase A, JNK, and phosphatidylinositol 3-kinase
- GNAS1 polymorphism is associated with chronic lymphocytic leukemia
- Several residues present in the iL2 of the hFSHR are important for both coupling the receptor to the G(s) protein and maintaining the receptor molecule in an inactive conformation.
- The R201H-GNAS1 allele was present only in Sertoli cells, resulting in isolated Sertoli cell hyperfunction.
- inactivating mutations leading to hormone resistance syndromes, pseudohypoparathyroidism types Ia and Ib [review]
- Paternal imprinting of Galpha(s) in the development of human obesity.
- GNAS1 T393C single nucleotide polymorphism is a novel genetic host factor for disease progression in patients with invasive breast carcinoma
- GNAS1 T393C is a novel independent host factor for disease progression in patients with intraheptic cholangiocarcinoma. The TT genotype was associated with a higher cell proliferation rate and less apoptosis.
- In conclusion, the GNAS1 T393C variant is associated with migraine, which suggests a genetic basis for its higher SNS sensitivity.
- Gene analysis indicated change from Arg at codon 201 to Cys in this patient with McCune-Albright syndrome
- the impact of loss of imprinting on Gs alpha expression level and on tumoral phenotype has been investigated
- that normal and mutated clonogenic stromal cells express GNAS alternative transcripts other than the common Gsalpha, some of which may be relevant to the development of FD.
- presence of a GNAS mutation did not predict a difference in a proliferation marker, surgical remission or response to somatostatin analog therapy
- Molecular analysis showed GNAS cluster imprinting defects in all pseudohypoparathyroidism type-Ib patients.
- haploinsufficiency of GNAS causes a significant reduction in the activation of the downstream target, CFTR, in vivo
- validated occurrence of an unusual TG 3' splice site in intron 3
- Review discusses the clinical consequences of GNAS1 activating mutations in different body systems and organs, the diagnostic approach to McCune-Albright syndrome, and current therapeutic recommendations.
- analysis of a mutant G(salpha) harboring AVDT amino acid repeats within its GDP/GTP binding site, which was identified in unique patients with pseudohypoparathyroidism type Ia accompanied by neonatal diarrhea
- The molecular lesion in McCune Albright syndrome is a postzygotic mutation in the GNAS gene that leads to activation of Gsalpha, the alpha chain of the heterotrimeric G protein, Gsalpha
- Detection of activating mutations in leukocyte genomic DNA extracted from peripheral blood samples from girls with gonadotropin-independent precocious puberty was associated with the presence of other phenotypic manifestations of McCune Albright syndrome
- Galpha(s) protects neuroblastoma cells from hydrogen peroxide-induced apoptosis by repressing Bak induction.
- Single nucleotide polymorphism in the GNAS1 gene is not associated with chronic lymphocytic leukemia
- There is an absence of GNAS and EGFL6 mutations in common human cancers.
- GNAS1 gene mutations do not appear to be present in tissues of infants with SIDS.
- The RBC lipid-raft-associated Gsalpha dependent signal transduction pathway results in increased cAMP and phosphoryllation of adducin.
- A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
- results demonstrate that human oocytes maintain meiotic arrest prior to the LH surge using a guanine nucleotide binding protein (G protein) alpha stimulating signaling pathway similar to that of rodent oocytes
- mutant Gsalpha-R265E, equivalent to transducin alpha-R238E was created; Gsalpha-R265E has facilitated activation by GTPgammaS, a slightly facilitated activation by GTP but much reduced receptor plus GTP stimulated activation
- T393C SNP could be considered as a genetic marker to predict the clinical course of patients suffering from oropharyngeal and hypopharyngeal cancer.
- Depressed suicides reveals increased Gs alpha localization in lipid raft domains of brain.
- An association between positive tilting and mutation C/T,Ile 131 within the GNAS1 codon was found. The predisposition to vasovagal syncope seems to be associated with the GNAS1 FokI+ allele.
- some girls with exaggerated or fluctuating thelarche may have an activating mutation in the GNAS gene, which codifies for alpha subunit of G stimulating protein (Gsalpha)
- Androgens transduce the G alphas-mediated activation of protein kinase A in prostate cells.
- While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of osseous heteroplasia from the non-progressive forms.
- Activating GNAS mutations disrupt a pathway that is required for skeletal stem cell self-renewal.
- There is a significant gender-dependent role of the GNAS1 T393C polymorphism in aseptic loosening after total hip arthroplasty.
- Toxic thyroid adenoma harbours elevated frequencies of GNAS mutation activating the cAMP pathway
- plays a central role in receptor-mediated signal transduction, coupling receptor activation with the production of cAMP regulated by genetic imprinting
- is a heterotrimeric protein consists of G alpha, G beta, and G gamma and plays a role in cellular signal transduction. (review)
- Co-stimulation of G(s) and G(q) can result in the fine-tuning of STAT3 activation status, and this may provide the basis for cell type-specific responses following activation of hIP.
- Albright hereditary osteodystrophy is a rare syndrome, in which cutaneous and superficial soft tissue lesions traditionally include osteomas and calcifications. A novel mutation in the GNAS gene was identified.
- The platelet-based test is a novel tool for establishing the diagnosis of GNAS defects
- Out of 12 SNPs investigated in the 19 kb GNAS region, four presented signals of association (P < 0.05) with severe malaria.
- Gsp mutations up-regulate GHRHR mRNA expression in GH-secreting pituitary adenoma cells & desensitize the adenoma cells to GHRH in terms of their GHRHR mRNA expression probably because of their saturation of GHRH signaling.
- The T393C SNP is a prognostic marker that could help to identify high risk patients suffering from head and neck cancer.
- A functional GNAS promoter polymorphism is associated with altered weight loss during short-term fasting.
- A CGT>TGT mutation at codon 201 of GNAS1 gene in a single case of NFPA was found. This finding suggests and confirms that G-protein mutations are rare and not crucial in non-functioning pituitary adenoma development
- No association between the GNAS1 polymorphism and prostate cancer risk was apparent. The C/C genotype was more frequent among the prostate cancer patients (22.9%) than the controls (20.7%),without significance (OR, 1.30; 95% CI, 0.80-2.12; p=0.29).