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Validated All-in-One™ qPCR Primer for TSHR(NM_000369.2) Search again
Product ID:
HQP018271
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CHNG1, LGR3, hTSHR-I
Gene Description:
thyroid stimulating hormone receptor
Target Gene Accession:
NM_000369.2(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.
Summary
The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene.
Gene References into function
- Interleukin-6 stimulates thyrotropin receptor expression in human orbital preadipocyte fibroblasts from patients with Graves' ophthalmopathy
- A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.
- These results indicated that Graves Disease patients have an expanded Th2 population responding to TSH-R and the dominance of the humoral immune system in such patients.
- recent advances in the structure-function relationships of thyroid-stimulating hormone (TSH) and its receptor
- structure-phenotype relationships of mutations at position 183 in determining specificity toward TSH and hCG
- activation of the cAMP pathway by the TSH receptor involves switching of the ectodomain from a tethered inverse agonist to a true agonist.
- TSH receptor is involved in cell-matrix interactions which modulate its functional properties
- gain-of-function mutations of the TSH receptor, or Gs-alpha gene, may activate the cAMP pathway.
- Thyrostimulin, a heterodimer of two new human glycoprotein hormone subunits, activates the thyroid-stimulating hormone receptor (thyrostimulin)
- Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.
- At least three full-length TSHR mRNAs with distinct poly(A) sites and five alternatively spliced forms of TSHR mRNAs are expressed from the single hTSHR gene.
- Data support the concept of a constitutively active TSHR dimer or monomer that is naturally inhibited by the formation of higher order complexes.
- Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation.
- In a cell line transfected with hTSHR, TSH activates STAT3 phoshorylation via the TSHR and cAMP- and PKC-dependent pathways.
- Knockout mice and transfected human TSHR were used to study the role of the TSHR signaling in thyroid development & differentiation. The major role of the TSH/TSHR pathway is controlling genes involved in iodide metabolism.
- The TSHR mutants A593N and A593N/D727E constitutively activated the cAMP cascade, whereas the D727E mutant did not differ from the wild-type TSHR.
- that the TSHR gene is not a major gene for Graves disease
- Aberrant methylation of human TSHR is a likely molecular pathway responsible for the silencing of this gene in thyroid cancers.
- The role of external factors (i.e. iodine deficiency) with respect to individual factors (i.e. genetic mutations) in the pathogenesis of toxic nodular goiter.
- expression ex vivo indicates adipogenesis in progress in vivo and is associated with the autoimmune/inflammatory process in graves disease and thyroid eye disease but is not restricted to the orbit or influenced by thyroid hormone status
- Genetic abnormality underlying the pathogenesis of a substantial subset of thyroid tumours has yet to be identified. Unresolved question of absence of genotype-phenotype correlation. Review.
- shed A subunits induce or amplify the immune response leading to hyperthyroidism and provide new insight into the etiology of Graves disease
- biological potency of TSHR mutants in thyroid cells does not correlate with their cAMP levels in transfected COS cells, highlighting the importance of cellular context and level of expression when assessing biological effects of oncogenic mutations
- TSH does not alter the subunit structure of its cognate receptor
- results indicate that the TSH receptor internalization might in part be responsible for TSH receptor desensitization on TSH binding
- Results describe for the first time the successful affinity purification of human thyroid-stimulating hormone receptor autoantibodies.
- natively conformed TSHR had a restricted set of epitopes recognized by TSHR-mAbs and the binding site for stimulating TSHR-Abs was highly conserved.
- monomer formation from multimeric TSHRs might be an important requirement for TSHR cleavage and TSHR ectodomain shedding.
- a novel epitope in the thyroid-stimulating hormone receptor ectodomain acts as intramolecular signaling interface
- ICL(intracellular loop)2 interacts with ICL3 in close vicinity to F525 and T607, suggesting a conformational cooperation between ICL2 and ICL3 during Gq activation by TSHR.
- we have demonstrated the presence of the autoantigenic target of Graves' disease, the thyroid-stimulating hormone receptor, in normal human extraocular muscle
- orbital fibroblasts subjected to adipocytic differentiation increase TSHr expression that responds specifically to bTSH and TSAb stimulation, and to TBAb inhibition.
- Thyrotropin receptors form homo- and heterodimers, via interactions involving primarily their heptahelical domains. The large hormone-binding ectodomains were dispensable for dimerization but modulated protomer interaction. The dimers show allosterism.
- TSHR is the first replicated GD-specific locus meriting further fine mapping and functional analysis to identify the aetiological variants.
- Evidence that a hydrophobic cluster, comprising residues 652-656 of extracellular loop 3, strongly influences intramolecular signal transduction and G protein activation of the TSHR.
- A novel homozygous missense mutation in codon 593 (A593 V) of the TSHR gene was identified in the affected individuals as the underlying molecular defect
- TSH receptor is a member of the class A of G protein-coupled receptors, which have a higher affinity to beta-arrestin 2 than beta-arrestin 1 and do not colocalize with beta-arrestins in endosomes.
- the R450H mutation is a commonly observed TSH receptor mutation in patients with TSH resistance in Japan
- the combination of an activating mutation of the TSH receptor (T620I) and a mutation of the Ki-RAS (G12C) genes may play an important role in both the hyperfunction of follicular thyroid carcinoma and the carcinogenetic process
- an activating mutation in transmembrane helix 6 of the thyrotropin receptor plays a key role in the development of hereditary hyperthyroidism
- the ectodomain cysteine boxes 2 and 3 play important roles in the activation mechanism of the thyroid-stimulating hormone receptor
- alpha helical motifs in intracellular loops of TSHR are responsible for G-protein mediated stimulation of TSHR.
- Evolution of thyroid peroxidase antibody (TPOAb) and thyrtropin receptor antibody activities before, during, and after treatment of Graves' disease (GD) with carbimazole.
- basal activity of the thyroid-stimulating hormone receptor is determined by contacts between extracellular loop two and transmembrane helix six
- no significant results have been obtained in the analysis of the association between genotypes and serum TSH levels in subclinical hypothyroidism
- Serum thyroid parameters and the TSHR-Asp727Glu polymorphism were associated with relative insulin resistance in health elderly men.
- study reports a novel TSHR mutation with imbalanced impairment of the cAMP and inositol phosphates/Ca2+ pathways
- heterozygosity associated with compensated hypothyroidism in spite of only mildly impaired receptor function
- The TSH action on Na(+)/K(+)-ATPase of human erythrocytes can be explained by the presence of TSHR.
- Hereditary (familial) nonautoimmune hyperthyroidism (FNAH) is caused by activating TSHR germline amino acid subsstitution mutations.
- TSH receptor mutations were identified in seven members of three families with subclinical hypothyroidism.
- Reverse charge mutations at M22 HC D52 and TSHR R80 provided experimental evidence that these two residues interacted strongly with each other
- There is no systematic variation during the menstrual cycle in autoantibodies against thyroid peroxidase, thyroglobulin, and thyrotropin receptor
- NUtant mice having an elevation of TSH but a nonfunctional TSHR displayed delayed ossification, reduced cortical bone, a trabecular bone remodeling defect, and reduced bone mineralization.
- Tumors recurred less frequently in patients with TSHR methylation than in patients with unmethylated TSHR promoter regions.
- report describes clinical and molecular findings in a Japanese family with hereditary nonautoimmune hyperthyroidism due to a novel TSHR germline mutation (Asp617Tyr)
- ADAM10 is identified as the TSHR cleavage enzyme and it is shown that TSH regulates its activation.
- An intracellular loop (IL2) residue confers different basal constitutive activities to the human lutropin receptor and human thyrotropin receptor through structural communication between IL2 and helix 6, via helix 3.
- Patients harboring the same mutation of the TSHr gene may show wide phenotypic variability with respect to the age at onset, and severity of hyperthyroidism and thyroid growth.
- Isoleucine 691 is changed to phenylalanine in a Chinese family and is the first germline mutation in TSHR intracellular C-terminal domain.
- Three heterozygous variants (Pro52Thr, Gly245Ser, Val689Gly) of TSHR gene were firstly detected in Chinese children with congenital hypothyroidism.
- multiple and cooperative signal propagating events at all three extracellular loops are required for full receptor activation
- the hinge region represents an extracellular intermediate connector for both hormone binding and signal transduction of the thyroid stimulating hormone receptor
- A novel TSHR germline mutation (N372T) was found in a man who presented with thyrotoxicosis.
- Decreased expression of the thyroid-stimulating hormone receptor is associated with poorly-differentiated carcinoma of the thyroid
- TSHR mutation as a sporadic germline mutation in a patient with hyperthyroidism after thyroid surgery.
- Analysis of interactions in the FSH-FSHR and TSH-TSHR complexes suggests that the alpha-chains of both hormones tend to be involved in the receptor activation process while the beta-chains are more involved in defining binding specificity.
- Results describe three associated single nucleotide polymorphisms and a microsatellite in the thyroid-stimulating hormone receptor gene.
- Toxic thyroid adenoma harbours elevated frequencies of TSHR mutation activating the cAMP pathway
- promising new circulating markers for thyroid cancer (Review)
- Thyroid-stimulating hormone receptor associates with insulin-like grow factor 1 receptor in situ; together they may comprise a functional antigenic complex in thyroid and orbital tissue.
- there was no evidence for the TSHR gene association adding to the risk of developing Graves' disease and Graves' ophthalmopathy
- An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain.
- Clinical analysis revealed distinct hormonal patterns in thyroid hypoplasia when compared with other variants of thyroid dysgenesis, with genetic abnormalities identified only in few cases in the TSH-R, PAX8, and NKX2.5 genes.
- Transmembrane helices (TMH) 2, 6, 7 show selective preferences towards G(alpha)s signaling, and TMH1, 2, 3, 6 for G(alpha)q signaling.