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Validated All-in-One™ qPCR Primer for FGFR3(NM_000142.4) Search again
Product ID:
HQP005434
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ACH, CD333, CEK2, HSFGFR3EX, JTK4
Gene Description:
fibroblast growth factor receptor 3
Target Gene Accession:
NM_000142.4(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.
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
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia.
Gene References into function
- G380R mutation of this gene is common mutation associated with achondroplasia
- We identified a novel ETV6 partner gene, fibroblast growth factor receptor 3 (FGFR3), in a patient with peripheral T-cell lymphoma (PTCL) with a t(4;12)(p16;p13) translocation.
- Two patients with clinical and radiological findings of achondroplasia, who had the most common FGFR3 missense mutations.
- distribution in normal endocrine cells and related tumors of the gastroenteropancreatic system; immunoreactive in duodenal G cells
- interacts with adapter protein SH2-B, and has a role in STAT5 activation
- Identification and characterization of an alternatively spliced isoform
- the G370C and S371C mutant receptors spontaneously dimerize in the correct spatial orientation required for effective signal transduction, whereas the 372-5 mutants, like the WT receptor, may achieve this orientation only on ligand binding
- Nucleotide 1138 in transmembrane domain of FGFR3 gene is the hot point for mutation in ACH and hence its major pathologic cause.
- phosphorylation is essential for FGFR3 ubiquitylation, but is not sufficient to induce downregulation of its internalization resistant mutants
- there is an FGFR3 mutation with a demonstrated deregulatory mechanism and alternative splicing in the absence of t(4;14) in multiple myeloma patients
- Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with activating mutations in this protein
- Differences in spatial patterns of FGFR expression in normal skin may generate functional diversity in response to FGFs, and in wounded skin FGFs may function in wound healing via induced FGFRs.
- strong correlation beween mutations of FGFR3 and disturbances of skeletal growth-REVIEW
- data indicate that t(4;14)(p16;q32) and loss of fibroblast growth factor receptor 3 occurred at a very early stage of multiple myeloma and suggest that activation of multiple myeloma SET domain protein may be transforming event of this translocation
- mutations in bladder cancer previously identified in non-lethal skeletal disorders
- the importance of the immature FGFR3 proteins as mediators of an abnormal signaling in thanatophoric dysplasia type II
- Cherubism was mapped to region 4p16.3. Because of the associated craniosynostosis, we excluded the FGFR3 gene as a candidate gene for cherubism.
- The FGFR3-associated coronal synostosis syndrome (Muenke craniosynostosis) is caused by a point mutation (C749G) on the FGFR3 gene resulting in a Pro250Arg substitution.
- A missense mutation in FGFR3 resulted in skeltal dysplasia distinct from thanatophoric dysplasia.
- results give further support to the fact that the G380R mutation of FGFR-3 is the most common mutation causing achondroplasia in different populations
- introduction of these mutated FGFR3s into ATDC5 cells downregulated PTHrP expression and induced apoptosis with reduction of Bcl-2 expression
- FGFR3IIIS may regulate FGF and FGFR trafficking and function, possibly contributing to the development of a malignant phenotype
- involvement of FGFR-3 in malignant hematopoiesis and FGFR-3 tyrosine kinase in CD34+ leukemic cells
- IGF-1 prevents the apoptosis induced by FGFR3 mutation through the PI3K pathway and MAPK pathway
- FGFR3 mutations were associated with low-stage, low-grade urothelial carcinomas of the blader.
- Inhibition of FGFR3 in myeloma cell lines was associated with morphologic, phenotypic, and functional changes typical of plasma cell differentiation, including increase in light-chain secretion and expression of CD31, followed by apoptosis
- defective differentiation of chondrocytes is the main cause of longitudinal bone growth retardation in FGFR3-related human chondrodysplasias
- Mutations in growth factor receptor 3 is associated with the pathogenesis of urothelial cell carcinoma
- fibroblast growth factor receptor 3 activation is regulated by cytoplasmic tyrosine kinase Pyk2
- fibroblast growth factor receptor 3 has a role in trafficking and signaling
- Acanthosis nigricans with achondroplasia due to Gly380Arg mutation in FGFR3.
- Reciprocal relationship in gene expression between FGFR1 and FGFR3 in colorectal tissue plays an important role in the progression of the carcinomas to malignancy.
- Over expression of FGFR3 is associated with urinary tract carcinoma progression
- Activating mutations of FGFR3 are associated with benign skin tumors.
- FGFR3 is an important cell survival and antiapoptotic factor for multiple myeloma cells
- tumors with FGFR3 mutation appear to have distinctive clinical and biological characteristics that may help in defining a population of patients for FGFR3 mutation screening
- Mutation in the FGFR3 is associated with progression of oral squamous cell car
- presence of a Pro250Arg mutation predisposed to an increased transcranial reoperation rate...on the basis of raised intracranial pressure...in apparently "isolated" coronal synostosis
- results indicate that FGFR 3 plays a crucial role in the accelerated proliferation of MM carrying t(4;14)(p16.3;q32)
- FGFR3 and Tp53 mutations do not appear to be associated with progression of T1G3 transitional bladder carcinomas
- Data indicate that after endocytosis, fibroblast growth factor receptor (FGFR)4 and its bound ligand, FGF1, are sorted mainly to the recycling compartment, whereas FGFR1-3 with ligand are sorted mainly to degradation in the lysosomes.
- Over-expression of FGFR3 may play an important role in liver carcinogenesis.
- For the first time in humans, the expression of basic fibroblast growth factor (bFGF) and its receptors FGFR-2, FGFR-3, and FGFR-4 has been documented in ovaries of second- and third-trimester fetuses.
- Review. The role of FGFR3 in endochondral ossification and mutations leading to chondrodysplasia are reviewed.
- FGFR3 mutations do not seem to play a role in bladder cancer progression
- fibroblast growth factor receptor 3 mutations have a role in development of bladder cancer
- alternative splicing of FGFR3IIIb results in a secreted isoform that inhibits FGF1-induced proliferation
- First quantitative measurement of mutant receptor tyrosine kinase (RTK) stabilization in the membrane domain environment of FGFR3 shows the profound effect of resultant increase in the dimer fraction on RTK-mediated signal transduction.
- Results suggest a novel interaction between the SOCS1 and SOCS3 proteins and the FGFR3 signaling pathway.
- FGFR3 expression is significantly associated with two important prognostic factors; stage and grade. Tumours with FGFR3+/p53- phenotype seem to have a distinctive pathway in bladder tumorigenesis.
- PRO-001 antibody is a potent and specific inhibitor of FGFR3 and deserves further study for the treatment of FGFR3-expressing myeloma.
- FGFR3 mutation status and loss of 9q is associated with early-stage bladder carcinomas
- The detection of FGFR3 mutations in FUH (Flat Urothelial Hyperpalsias) supports the role of this lesion as precursor of papillary bladder cancer.
- Gly380 --> Arg mutation does not alter dimerization energetics of FGFR3 transmembrane domain in detergent micelles or lipid bilayers. This indicates that pathogenesis in achondroplasia cannot be explained simply by higher dimerization of mutant FGFR3.
- These results suggest that constitutive levels of both FGFR1 and FGFR3, but not FGFR4 are essential for FGF-stimulated anchorage-independent growth of SW-13 cells.
- Mutations were detected in 23 of 27 (85%) adenoid seborrheic keratoses. R248C mutations were the most frequent mutation type.
- The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi.
- MIP-1 alpha promoter function, gene expression, and protein secretion were each down-regulated following inhibition of FGFR3 signaling.
- PIK3CA mutations were strongly associated with FGFR3 mutations in superficial papillary bladder tumors.
- identified a heterozygous missense mutation that is predicted to cause a p.R621H substitution in the tyrosine kinase domain and partial loss of FGFR3 function
- Patients with TWIST gene mutations may have more ophthalmic abnormalities, including more strabismus, ptosis, NLDO, astigmatism, vertical deviations, and amblyopia compared with patients with FGFR3 gene mutations.
- The present studies show that MUC1 associates with FGFR3.
- The group of low-grade noninvasive papillary tumours is defined by the presence of an FGFR3 mutation
- findings indicate that: (1) FGFR3 mutations occur in mosaicism and can cause epidermal nevi and (2) other genes are involved in epidermal nevi
- double mutation in FGFR3 encoding GLY380LYS is responsible for Hypochondroplasia.
- These results suggest that intracellular domain mutations define a distinct means by which mutated FGFR3 could disrupt bone development.
- FGFR3 gene mutation is found in thanatophoric dysplasia type 1 and bilateral cystic renal dysplasia.
- the mutant S249C FGFR3 may have a role in bladder cancer
- study showed that FGFR3 mutations appear to be common genetic alterations in multiple seborrheic keratoses with a varying interindividual mutation frequency but without specific intraindividual hot spots
- no evidence that mosaicism for mutations, normally associated with syndromal forms of craniosynostosis, occur in single suture craniosynostosis
- The cell model will be useful for the study of FGFR3 function in cartilage studies and future therapeutic approaches in chondrodysplasias.
- Although mutation K650M induces defective targeting of receptor, different mechanism characterized by receptor retention at plasma membrane, excessive ubiquitylation and reduced degradation results from mutations of extracellular domain and stop codon.
- the fibroblast growth factor family has a pleiotrophic function in human spermatogonia, which physiologically express FGFR3
- Results suggest that a PLCgamma-STAT1 pathway mediates apoptotic signaling by FGFR3 in genetic dwarfism and chondrogenic cell lines.
- Show preferential occurrence of FGFR3 mutations in seborrheic keratoses of the head and neck. Increased age appears to be a risk factor for these mutations.
- CHEK2 mutation has a role in hereditary breast cancer
- A child who has hypochondroplasia due to an N540K mutation and who has medial temporal lobe dysgenesis.
- analysis of a Chinese family with autosomal dominant achondroplasia; disease locus was mapped to chromosome 4p16.3, where the FGFR3 gene is located; a novel Ser217Cys mutation in exon 5 of FGFR3 that causes autosomal dominant achondroplasia was identifie
- over-expression of FGFR3 protein in many tumours compared to normal bladder and ureteric controls. Increased expression was associated with mutation (85% of mutant tumours)
- FGFR3 mediates hematopoietic transformation by activating RSK2 in a two-step fashion, promoting both the ERK-RSK2 interaction and subsequent phosphorylation of RSK2 by ERK.
- Mutations were detected in 12 of 13 (92.3%) tumor tissues and 11 of 13 (84.6%) urine samples from patients with superficial bladder cancer.
- FGFR3 may represent a prognostic marker of chromosomally stable bladder tumors with low malignant potential.
- Mutations are a possible prognostic tool in survival of urothelial carcinoma of the upper urinary tract.
- previously undescribed, heterozygous lysine to threonine mutation at codon 650 of the FGFR3 gene in familial acanthosis nigricans
- FGFR3 is a negative regulator of chondrocytes proliferation and differentiation in growth plate.
- a K650Q mutation in the FGFR3 gene may have a role in Acanthosis nigricans [case report]
- analysis of FGFR3 mutation in Muenke syndrome
- MM Patients showing the t(4;14) chromosomal translocation at FGFR3 and MMSET genes had a significant elevation of serum crosslaps, reported to be the marker most reliably correlated with the extent of bone resorption
- Strong immunohistochemical expression of FGFR3, a superficial staining pattern of CK20, and a low proliferative activity define those papillary urothelial neoplasms of low malignant potential that do not recur.
- FGFR3 status allows a better risk stratification for patients with high-grade non-muscle-invasive UCC
- The technique had a sensitivity and specificity of 100%. CONCLUSION: High-resolution melting analysis is a simple, rapid, and sensitive one tube assay for genotyping the FGFR3 gene.
- No sequence variation was found, indicating that mutations in the "hot spot" exons are not associated with nonsynostotic plagiocephaly.
- In human uterine leiomyomas, FGFR3 were also overexpressed.
- FGFR3 mutation frequency was significantly associated with tumor grade.
- Pyridoxal-5'-phosphate-6-azophenyl-2', 4'-disulfonate reduced the tyrosine phosphorylation of FGF receptor type 3 triggered by FGF9 and the activation of the ERK1/2 pathway.
- Results suggest that activated Spry2 may interfere with c-Cbl-mediated ubiquitination of FGFR3 by sequestering c-Cbl.
- FGFR3 and PIK3CA germline mutations can be excluded as an underlying genetic basis, therefore alternative mechanisms have to contribute to familial Seborrheic Keratoses.
- Aberrant FGFR3 staining may be seen infrequently in many forms of malignant lymphoma, although it is not the cause in most cases.
- Results show that DNA methyltransferase 3B enhances polycomb protein 2-mediated transcriptional repression of FGFR3, and suggest that DNMT3B is a co-repressor of hPc2 in inducing transcriptional repression independent of DNA methylation.
- A large pedigree with the clinical phenotype of Hypochondroplasia and Acanthosis nigricans due to a FGFR3 mutation, p.Lys650Thr.
- Mosaicism of FGFR3 caused an epidermal nevus syndrome with cerebral involvement.
- Mutations in FGFR3 in melanoma by inhibition of nonsense-mediated mRNA decay.
- The Muenke syndrome cohort showed significant low-frequency sensorineural hearing loss, and the Fgfr3(P244R) mice showed dominant penetrant hearing loss that was more severe than that in Muenke syndrome individuals.
- FGFR3 and MAPK signaling in chondrocytes promote synchondrosis closure and fusion of ossification centers in human cases of homozygous achondroplasia and thanatophoric dysplasia.
- The findings suggest that a thalidomide-based regimen may overcome the poor prognosis associated with a cyclin D1-negative or fibroblast growth factor receptor 3-positive phenotype.
- STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.