fibroblast growth factor receptor 3
Last updated 29 May 2023
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The FGFR3 gene provides instructions for making a protein called fibroblast growth factor receptor 3. This protein is part of a family of four fibroblast growth factor receptors that share similar structures and functions. These proteins play a role in several important cellular processes, including regulation of cell growth and division (proliferation), determination of cell type, formation of blood vessels (angiogenesis), wound healing, and embryo development.
Normal function
The FGFR3 gene provides instructions for making a protein called fibroblast growth factor receptor 3. This protein is part of a family of four fibroblast growth factor receptors that share similar structures and functions. These proteins play a role in several important cellular processes, including regulation of cell growth and division (proliferation), determination of cell type, formation of blood vessels (angiogenesis), wound healing, and embryo development.
The FGFR3 protein spans the cell membrane, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This allows the protein to interact with specific growth factors outside the cell and receive signals that control growth and development. When these growth factors attach to the FGFR3 protein, the protein is turned on (activated). This triggers a cascade of chemical reactions inside the cell that instruct the cell to undergo certain changes, such as maturing to take on specialized functions (differentiation).
Several versions (isoforms) of the FGFR3 protein are produced from the FGFR3 gene. The different isoforms are found in various tissues of the body, and they interact with a variety of growth factors. Many isoforms are found in the cells that form bones. Researchers believe that the FGFR3 protein regulates bone growth by limiting the formation of bone from cartilage. Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. The process of converting cartilage to bone is called ossification. One particular isoform of the FGFR3 protein is found specifically in cells that line the surfaces of the body (epithelial cells), including the cells that form the outermost layer of skin, called the epidermis.
Conditions referring to this gene or chromosome
Other names
ACH
CD333
CEK2
FGFR-3
FGR3_HUMAN
fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
HBGFR
hydroxyaryl-protein kinase
JTK4
tyrosine kinase JTK4
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Further reading and references
- fibroblast growth factor receptor 3; MedlinePlus, National Library of Medicine.
- Arnaud-Lopez L, Fragoso R, Mantilla-Capacho J, Barros-Nunez P. Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clin Genet. 2007 Nov;72(5):405-10. doi: 10.1111/j.1399-0004.2007.00884.x.
- Brandling-Bennett HA, Morel KD. Epidermal nevi. Pediatr Clin North Am. 2010 Oct;57(5):1177-98. doi: 10.1016/j.pcl.2010.07.004.
- Cappellen D, De Oliveira C, Ricol D, de Medina S, Bourdin J, Sastre-Garau X, Chopin D, Thiery JP, Radvanyi F. Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. Nat Genet. 1999 Sep;23(1):18-20. doi: 10.1038/12615. No abstract available.
- Chen F, Degnin C, Laederich M, Horton WA, Hristova K. The A391E mutation enhances FGFR3 activation in the absence of ligand. Biochim Biophys Acta. 2011 Aug;1808(8):2045-50. doi: 10.1016/j.bbamem.2011.04.007. Epub 2011 Apr 22.
- Chen F, Sarabipour S, Hristova K. Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3. PLoS One. 2013;8(2):e56521. doi: 10.1371/journal.pone.0056521. Epub 2013 Feb 20.
- Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. doi: 10.2741/1671.
- Desai SD, Vora R, Bharani S. Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome. J Pediatr Neurosci. 2014 Jan;9(1):66-9. doi: 10.4103/1817-1745.131493.
- Eswarakumar VP, Lax I, Schlessinger J. Cellular signaling by fibroblast growth factor receptors. Cytokine Growth Factor Rev. 2005 Apr;16(2):139-49. doi: 10.1016/j.cytogfr.2005.01.001. Epub 2005 Feb 1.
- Hafner C, Di Martino E, Pitt E, Stempfl T, Tomlinson D, Hartmann A, Landthaler M, Knowles M, Vogt T. FGFR3 mutation affects cell growth, apoptosis and attachment in keratinocytes. Exp Cell Res. 2010 Jul 15;316(12):2008-16. doi: 10.1016/j.yexcr.2010.04.021. Epub 2010 Apr 24.
- Hafner C, Hartmann A, van Oers JM, Stoehr R, Zwarthoff EC, Hofstaedter F, Landthaler M, Vogt T. FGFR3 mutations in seborrheic keratoses are already present in flat lesions and associated with age and localization. Mod Pathol. 2007 Aug;20(8):895-903. doi: 10.1038/modpathol.3800837. Epub 2007 Jun 22.
- Hafner C, Toll A, Fernandez-Casado A, Earl J, Marques M, Acquadro F, Mendez-Pertuz M, Urioste M, Malats N, Burns JE, Knowles MA, Cigudosa JC, Hartmann A, Vogt T, Landthaler M, Pujol RM, Real FX. Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors. Proc Natl Acad Sci U S A. 2010 Nov 30;107(48):20780-5. doi: 10.1073/pnas.1008365107. Epub 2010 Nov 15.
- Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Hartmann A. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest. 2006 Aug;116(8):2201-2207. doi: 10.1172/JCI28163.
- Hernandez S, Toll A, Baselga E, Ribe A, Azua-Romeo J, Pujol RM, Real FX. Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors. J Invest Dermatol. 2007 Jul;127(7):1664-6. doi: 10.1038/sj.jid.5700705. Epub 2007 Jan 25.
- Horton WA, Lunstrum GP. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. Rev Endocr Metab Disord. 2002 Dec;3(4):381-5. doi: 10.1023/a:1020914026829. No abstract available.
- L'Hote CG, Knowles MA. Cell responses to FGFR3 signalling: growth, differentiation and apoptosis. Exp Cell Res. 2005 Apr 1;304(2):417-31. doi: 10.1016/j.yexcr.2004.11.012. Epub 2004 Dec 16.
- Lievens PM, Liboi E. The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum. J Biol Chem. 2003 May 9;278(19):17344-9. doi: 10.1074/jbc.M212710200. Epub 2003 Mar 6.
- Robertson AG, Kim J, Al-Ahmadie H, Bellmunt J, Guo G, Cherniack AD, Hinoue T, Laird PW, Hoadley KA, Akbani R, Castro MAA, Gibb EA, Kanchi RS, Gordenin DA, Shukla SA, Sanchez-Vega F, Hansel DE, Czerniak BA, Reuter VE, Su X, de Sa Carvalho B, Chagas VS, Mungall KL, Sadeghi S, Pedamallu CS, Lu Y, Klimczak LJ, Zhang J, Choo C, Ojesina AI, Bullman S, Leraas KM, Lichtenberg TM, Wu CJ, Schultz N, Getz G, Meyerson M, Mills GB, McConkey DJ; TCGA Research Network; Weinstein JN, Kwiatkowski DJ, Lerner SP. Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer. Cell. 2018 Aug 9;174(4):1033. doi: 10.1016/j.cell.2018.07.036. No abstract available.
- Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26.
- Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet. 2006 Nov;79(5):935-41. doi: 10.1086/508433. Epub 2006 Sep 26.
- Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387.
- van Rhijn BW, van Tilborg AA, Lurkin I, Bonaventure J, de Vries A, Thiery JP, van der Kwast TH, Zwarthoff EC, Radvanyi F. Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. Eur J Hum Genet. 2002 Dec;10(12):819-24. doi: 10.1038/sj.ejhg.5200883.
- Zieger K, Dyrskjot L, Wiuf C, Jensen JL, Andersen CL, Jensen KM, Orntoft TF. Role of activating fibroblast growth factor receptor 3 mutations in the development of bladder tumors. Clin Cancer Res. 2005 Nov 1;11(21):7709-19. doi: 10.1158/1078-0432.CCR-05-1130.
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