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Validated All-in-One™ qPCR Primer for GHR(NM_001242401.4) Search again
Product ID:
HQP154316
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
GHBP, GHIP
Gene Description:
growth hormone receptor
Target Gene Accession:
NM_001242401.4(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
This gene encodes a protein that is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. A common alternate allele of this gene, called GHRd3, lacks exon three and has been well-characterized. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. Other splice variants, including one encoding a soluble form of the protein (GHRtr), have been observed but have not been thoroughly characterized. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. The precise location of this cleavage site has not been determined for the human protein.
Gene References into function
- structure of a phage display-derived variant of human growth hormone complexed to two copies of the extracellular domain of its receptor: evidence for strong structural coupling between receptor binding sites
- plays an important role in the genetic and perhaps nutritional determination of adult stature in humans
- Heterozygous T51I mutation of the growth hormone (GH) receptor does not inhibit the signal transduction of GH and is not responsible for GH insensitivity.
- the presence of exon 3-retaining and -excluding GHR isoforms results from a genomic deletion rather than from alternative splicing
- Of the 33 hypertrophic actinic keratosis specimens, 30 (91%) showed immunopositive staining for p53, 33 (100%) for bcl-2, and 12 (36%) for GHR.
- self-inhibitory effect of growth hormone on the level of GHR/GHBP gene transcription, which does not involve the regulation of the shedding of GHBP
- identification of members of the PTP family that have substrate specificity for the phosphorylated human GH receptor
- Detection of the binding-site hot spot at the remodeled human growth hormone-receptor interface complexed with growth hormone.
- the JAK-STAT5 pathway and the novel tyrosine phosphorylation pathway, dependent on signaling from the C-terminal region of hGHR and might be involved in the GH-stimulated IGF-I gene expression in Ba/F3 cells.
- Growth hormone binding to its receptor plays a role in the final stages of oocyte maturation and early embryogenesis
- role of human growth hormone (GH) and its receptor (GHR) in human prostate cancer
- Using a mutagenesis-scanning analysis of 81 single and 32 pairwise double mutations, it is shown that the GHv hormone's two spatially distal receptor binding sites (Site1 and Site2) are allosterically coupled
- preliminary X-ray diffraction analysis of the unliganded human growth hormone receptor
- GHR is subject to sequential proteolysis by metalloprotease and gamma-secretases, including PS1
- We report a Chinese girl diagnosed with Laron syndrome at age 1.9 years with height -4.9 SDS, basal GH 344 mIU/ml, IGF-I <12 ng/ml, IGFBP-3 <0.2 mg/ml, and undetectable GHBP. A novel mutation of the GHR was identified at the donor splice site of intron 6
- Results describe the intramolecular cooperativity in the high affinity site (site 1) of human growth hormone (hGH) for binding to its receptor.
- stability of the ternary hormone-receptor complex reflects the affinity of the Site2 binding and is surprisingly exempt from changes in Site1 affinity, directly demonstrating that dissociation of the active signaling complex is a stepwise process
- Epression was demonstrated in all normal pituitaries, most inactive adenomas and the majority of somatotropin-producing adenomas.
- activation mechanism involving a relative rotation of subunits within a dimeric growth hormone receptor as a result of asymmetric placement of the receptor-binding sites on the ligand
- Heterozygous mutations of the growth hormone receptor gene are uncommon in Italian idiopathic short stature patients, who are selected for adequate GH levels
- Patients with growth hormone deficiency who are homozygous for GHR exon 3 are less responsive to short- and long-term hGH therapy.
- CJC-1295, a long-acting analog of GH-releasing hormone may be uxeful in increasing GH and IGF-I levels.
- Findings show that IQ and abnormalities in the brain of patients with LS differ with various molecular defects of the GH-receptor. The most severe mental deficits and brain pathology occurred in patients with 3, 5, 6 exon deletion.
- The most common GHR polymorphisms do not appear to affect the growth response to recombinanat human growth hormone in growth hormone deficient children.
- No association is found between growth hormone receptor genotype and either hypertension or stroke.
- Sequence changes of the GHR are common in children with idiopathic short stature (ISS), but these sequence changes represent a simple polymorphism of the GHR. They do not seem to play a contributory role in the etiology of short stature.
- The increase in nuclear expression of GHR with advanced stages of chronic liver disease suggests that GH may act directly at the nuclear level to promote hepatocyte proliferation/regeneration.
- GH signaling pathways: STAT5 is acutely activated in human muscle and fat after a GH bolus, but additional downstream GH signaling was significant only in fat
- Growth hormone receptor (GHR) signaling events require the involvement of the common cytokine receptor gamma-chain. Colocalization of GHR and common gamma-chain is observed on the surface of normal lymphoblastoid cells.
- The hGHR 3+ and 3- isoforms appear not to have differential effects on two major growth outcomes of growth hormone action, final adult height, and bone mineral density in a population of healthy adult women
- Activation of the pseudoexon in the GHR gene can lead to a variety of growth hormone insensitivity phenotypes
- increased risk of breast cancer with higher GHBP
- pegvisomant blocks the GH receptor-mediated signal transduction pathways
- results suggest that the GHR allelic variant does not play a significant role in the regulation of GH-IGF-I/BP3 axis or in insulin sensitivity in prepubertal LBW children.
- GH-dependent IGF-I and IGFBP-3 secretion is not affected by heterozygosity for the E180 splice mutation that causes GHRD/Laron syndrome in the Ecuadorian population.
- each of the compound heterozygous mutations of GHR gene contributed additively to the pathological condition, and the more detrimental of the 2 mutations, C94S, may cause (partial) primary growth hormone insensitivity, even in a heterozygous state
- increased spontaneous postnatal growth velocity in the carriers of the d3-GHR allele, but the opposite effect on prenatal growth in the small for gestational age group
- Case of a patient with mild short stature, who acquired GHD in late adulthood due to a non-secreting pituitary adenoma and get additionally diagnosed for pre-existing growth hormone insensitivity due to R179C mutation.
- The growth hormone receptor did not appear to be a predisposing gene or disease modifier gene of adolescent idiopathic scoliosis.
- Type 2 diabetes is associated with GHR exon 3 polymorphism and higher c reactive protein levels.
- The Leu544Ile polymorphism of the GHR gene is associated with cholesterol levels in boys with GH deficiency during GH treatment.
- ISS children carrying the GHRd3 allele, as a group, present a slightly higher GH sensitivity regarding short-term IGF-1 generation during hGH stimulus than children homozygous for GHRfl allele.
- The GHR fl/d3 genotype modulates the relationship between GH and IGF-1 concentrations in patients presenting with acromegaly.
- molecular characterization of two unrelated Italian girls from Sicily with Laron Syndrome; different nonsense mutations were identified; the E180X represents a novel defect of the GHR gene, while the R217X mutation has been previously reported
- A pseudoexon in the GH receptor gene was characterized.
- analysis of STAT5, CIS, and SOCS2 interactions with the growth hormone receptor
- Growth hormone receptor mutation impairs growth hormone autofeedback signaling in pituitary tumors
- report described the clinical features and GHR gene mutations in 2 siblings with Laron syndrome in a Chinese family; gene mutation analysis revealed that the two patients had same homozygous mutation of S65H (TCA -->CCA) in exon 4
- GHR exon 3 genotype is a predictor for the postnatal growth pattern of very low birth weight preterm infants
- Data suggest that JAK2, by association with surface GH receptor (GHR) in the secretory pathway, blunts proteasome activity-dependent discrete GHR cleavage and endoplasmic reticulum-dependent degradation of the precursor receptor.
- growth hormone/GHR plays a role in the development of colorectal carcinoma
- a novel mutation is reported in the GHR gene in a patient with Larson Syndrome. Genomic DNA sequencing of exon 5 revealed a TT insertion at nucleotide 422 after codon 122.
- children who showed rapid early postnatal weight gain after low birth weight have higher levels of GHBP than other children
- The GHRc.1319 T allele is associated with the therapeutic efficacy of GH replacement therapy.
- Growth hormone receptor polymorphisms.
- Data show that there are developmental- and liver-specific regulation of module B hGHR gene expression and Six putative hepatic nuclear factor 4 response elements were identified.
- The proteins and the mRNA transcripts for GH and GH-R were detected in oocytes, granulosa and stroma cells from both fetuses and women/girls.
- The E180X mutation identified in two Inuit patients resulted in a truncated, unstably expressed GHR variant, whereas the E180 splicing mutation previously identified in the Ecuadorian cohort, affected both GH binding and GHR trafficking.
- neither sex nor GH peaks after provocative stimuli might influence significantly the responsiveness to GH therapy according to the exon 3-deleted/full-length GHR genotypes.
- The Thr495Pro polymorphism of Growth Hormone Receptor(GHR) was associated with the risk of lung cancer in a redundant interaction with smoking and familial history of cancer.
- first study displaying cardiac expression of insulin-like growth factor-I mRNA and growth hormone receptor mRNA in children with congenital heart disease
- G168G and exon 3 deletion polymorphisms in the growth hormone receptor gene were detected in patients with Laron syndrome.
- analysis of a conformational change in the F'G' loop of the lower cytokine module, which results from binding of hGH but not G120R hGH antagonist
- The absence of exon 3 of the GHR may be associated with a more morbid acromegalic clinical and biochemical picture and a lower chance of achieving IGF-I normalization after therapy.
- analysis of of metabolic changes resulting from impaired STAT5 signalling by the growth hormone receptor
- Genotype distributions and allele frequencies of the GHR exon 3 polymorphism in the Genetics of Kidneys in Diabetes population was in HWD
- The GH-GHR signal may act at the nuclear level to promote the proliferation of uterine cervical neoplasms in young patients.
- elevated GH1 gene expression and increased GHR-mediated GH responsiveness may constitute adaptive responses to the effects of scarce food supply in this West-African population.
- Autocrine hGH is therefore a potential master regulator of tumor neovascularization, coordinating two critical processes in mammary neoplastic progression, angiogenesis and lymphangiogenesis.
- Mutations in the GH receptor gene have been identified as the cause of growth hormone insensitivity syndrome (GHIS), a rare autosomal recessive disorder.