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Validated All-in-One™ qPCR Primer for EDNRB(NM_001122659.3) Search again
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 G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Three transcript variants encoding two different isoforms have been found for this gene. While both isoforms bind ET1, they exhibit different responses upon binding, suggesting that they may be functionally distinct. [provided by RefSeq].
Gene References into function
- novel mutation in a patient with Shah-Waardenburg syndrome and Down syndrome
- The endothelin system plays a role in the complex pathophysiology of idiopathic dilated cardiomyopathy.
- determination of the molecular basis of embryonic arrest from defects associated with mesoderm development
- signal peptide is necessary for translocation of the N-terminal tail across the endoplasmic reticulum membrane.
- A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene, a gene known to be involved in Shah-Waardenburg syndrome, was found in ABCD syndrome.
- Repression of endothelin receptor plays a role in the development of nasopharyngeal carcinoma
- The vasoconstrictor effect of endothelin-1 in small resistance arteries of normotensive subjects and, in part, also in hypertensive patients is mediated by ET(A) receptors, while ET(B) receptors play a minor role, if any
- Augmented synthesis and altered expression of ET(B) receptors in the peripheral vasculature contribute to the increased incidence of hypertension and related complications in African American patient populations.
- N-terminal proteolysis has a role in the regulation of cell surface expression of the ET(B) receptor
- genetic interaction between mutations in RET and EDNRB is an underlying mechanism for Hirschsprung disease
- Down-regulation of endothelin receptor B correlated with death from metastatic disease in uveal melanoma
- Detection of endothelin-B receptor gene polymorphisms in patients that have both Hirschsprung's disease and Down's syndrome.
- autosomal-dominant polycystic kidney
- a study of interactions with caveolin-1 in caveolae
- Data show that in a human Kaposi sarcoma cell line, blockade of endothelin receptors A and B blocked the endothelin-1-induced increase in secretion and activation of matrix-metalloproteinases.
- The ETB receptor shows remarkable stability in lysosomes, held together by disulfide bonds, and maintaining ligand binding for long periods of time
- ET(B)R is more common in breast carcinomas of patients with lower disease-free survival time and overall survival.
- It is clear from the present data for lung fibroblasts that for both stimulated and unstimulated states of ETB receptors, there exist multiple covalent forms differing in the number and location of sites of posttranslational modifications.
- Mutations are found in Hirschsprung's disease in a Chinese population.
- Endothelin ETB receptor mRNA levels are significantly higher in arteries from patients with ischemic heart disease as compared to congestive heart failure and controls.
- increased ET-1, ET(A)R, and ET(B)R expression are associated with increased VEGF expression and higher vascularity of breast carcinomas and could be involved in the regulation of angiogenesis in breast cancer
- ET-1/ETA/ETB autocrine/paracrine loops on DCs appear to be essential for the normal maturation and function of human dendritic cells
- Combined cleavage data strongly suggest that the binding domain of ETB receptor includes a portion of the fifth transmembrane domain, between residues Trp275 and Met296.
- Within the second intracellular loop of ETB, a consensus sequence was identified, KXXXVPKXXXV, that is required for ET-1 stimulation of NHE3 activity.
- Endothelin-B receptor blockade inhibits molecular effectors of melanoma cell progression.
- Compared kidney endothelin-A and endothelin-B receptor distribution visualized by radioligand binding versus immunocytochemical localization using subtype selective antisera.
- These data point to ET-1 as a possible survival factor for oligodendrogliomas via ET(B)-R activation and suggest that ET(B)-R-specific antagonists might constitute a potential therapeutic alternative for oligodendrogliomas.
- Polymorphisms in the ET-1 gene (K198N), the ET receptor type A (ETA), (-231G>A and +1222C>T), and the ET type B (ETB) receptor (G57S and L277L) do not play a role in cerebral small-vessel disease
- Inactivation of the EDNRB gene through its promoter methylation is highly prevalent in lung cancer in Taiwan.
- Observations strongly suggest that the expression of ETB receptor is enhanced in neointimal smooth muscle cells at early stages after percutaneous coronary intervention injury in human coronary arteries.
- Reverse transcriptase-polymerase chain reaction analysis revealed mRNA the ETB receptor subtype in the human trigeminal ganglion. Immunocytochemistry revealed numerous cell bodies containing ETB proteins.
- Associations between endothelin receptors A and B in aystemic ssclerosis subsets supports the role of endothelin and its receptors in the pathogenesis of this disease.
- ET receptors in pigment cells of vertebrate species were identified by RT-PCR assays, and the differential expression of the various subtypes in each species was compared by quantitative PCR.
- This study identified additional sequence variants of the EDNRB gene, but the estimated EDNRB haplotypes did not show any disease risk.
- Transfected into mice, implicating endothelin as a major modifying factor for cystic disease progression in human autosomal dominant polycystic kidney disease.
- analysis of Endothelin-1, ETAR and ETBR expression in different histologic subtypes of renal cell carcinoma
- Endogenous endothelin, predominantly via ET(A) receptor stimulation, contributes to basal constrictor tone and endothelial dysfunction, whereas ET(B) activation mediates vasodilation in human coronaries.
- The EDNRB-30G>A polymorphism could be a determinant of airway obstruction in humans with predisposing factors such as tobacco smoke exposure or asthma.
- EDNRB-rs5351 was the most susceptible SNP associated with atherosclerosis in male hypertensives, and the genetic background may be involved in the progression of atherosclerosis in EHT patients.
- transmembrane segment 1 of human endothelin B receptor is essential area for ET-1 binding and homodimer formation
- a previously described polymorphism (G831A in exon 4) and a novel variant (G553A in exon 2) of EDNRB were identified in two Chinese Hirshprung disease patients
- Results suggest that analysis of ETBR expression by means of simple immunohistochemical analysis might improve prediction of the prognosis for patients with vulvar squamous cell carcinoma.
- Endothelin receptor type B counteracts tenascin-C-induced endothelin receptor type A-dependent focal adhesion and actin stress fiber disorganization
- all investigated patients with anorectal malformations showed mobility shift aberrations and polymorphisms in the EDNRB gene
- Reduction in fractional excretion of ET-1 after ETB blockade appears to indicate that renal excretion of ET-1 is at least partly facilitated by ETB receptor activation.
- Endothelin B receptor mediates the endothelial barrier to T cell homing to tumors
- higher mutation rate for short-segment Hirschsprung disease(HSCR) suggests the important role that the Endothelin-B receptor(EDNRB) gene plays in the pathogenesis of short-segment HSCR in Taiwan
- EDNRB expression may be affected by aberrant promoter methylation and gene deletion and may play a role in the development of nasopharyngeal carcinoma.
- The changes of endothelin-1 (ET-1) and its receptor B in an experimental mouse model of PVR and in human proliferative vitreoretinopathy, were studied.
- PlGF-induced expression of ET-1 and its cognate ET-BR receptor occur via activation of HIF-1 alpha, independent of hypoxia.
- ET1, via ETB1, inhibited NADPH oxidase activity in vascular endothelial cells by suppressing the Pyk2-Rac1-Nox1 pathway
- aberrant methylation of p16 and EDNRB was highly prevalent in leukemia patients in Taiwan.
- review of heterodimerization involving the ETA receptor and renal endothelin ETB-dopamine D(3) receptor interactions at the cellular level that appear to have functional consequences in vivo
- A possible synergistic effect to salt-sensitive hypertension was found by combining EDNRB with angiotensinogen genotypes
- Up-regulation of endothelin type B receptors in the human internal mammary artery in culture is dependent on protein kinase C and mitogen-activated kinase signaling pathways.
- ETRB-specific antagonist, A-192621 reduces glioma and melanoma cells viability by activating stress/DNA damage response pathways
