fibroblast growth factor receptor 2
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Den FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2 (FGFR2). Fibroblast growth factor receptors are related proteins that are involved in important processes such as cell growth and division (proliferation), cell maturation (differentiation), bone development, formation of blood vessels (angiogenesis), wound healing, and embryonic development.
Normal function
Den FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2 (FGFR2). Fibroblast growth factor receptors are related proteins that are involved in important processes such as cell growth and division (proliferation), cell maturation (differentiation), bone development, formation of blood vessels (angiogenesis), wound healing, and embryonic development.
The FGFR2 protein spans the outer membrane surrounding cells, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This positioning allows the FGFR2 protein to interact with specific growth factors outside the cell and to receive signals that help the cell respond to its environment. When growth factors attach to the FGFR2 protein, the receptor triggers a series of chemical reactions inside the cell that instruct the cell to undergo certain changes, such as maturing to take on specialized functions.
The FGFR2 protein plays an important role in bone growth, particularly during development before birth (embryonic development). For example, this protein signals certain immature cells in the developing embryo to become bone cells and form the head, hands, feet, and other tissues. The protein is also involved in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it.
There are several slightly different versions (isoforms) of the FGFR2 protein. Specific patterns of these isoforms are found in the body's tissues, and these patterns may change throughout growth and development.
Conditions referring to this gene or chromosome
Other names
bacteria-expressed kinase
BEK
BEK fibroblast growth factor receptor
BEK protein tyrosine kinase
BFR-1
CD332
CEK3
CFD1
ECT1
FGF receptor
FGFR2_HUMAN
K-SAM
keratinocyte growth factor receptor
KGFR
protein tyrosine kinase, receptor like 14
TK14
TK25
tyrosylprotein kinase
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Vidare läsning och referenser
- fibroblast growth factor receptor 2; MedlinePlus, National Library of Medicine.
- Azoury SC, Reddy S, Shukla V, Deng CX. Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. Int J Biol Sci. 2017 Nov 2;13(12):1479-1488. doi: 10.7150/ijbs.22373. eCollection 2017.
- Carinci F, Pezzetti F, Locci P, Becchetti E, Carls F, Avantaggiato A, Becchetti A, Carinci P, Baroni T, Bodo M. Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. J Craniofac Surg. 2005 May;16(3):361-8. doi: 10.1097/01.scs.0000157078.53871.11.
- Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013 Jan;24(1):150-2. doi: 10.1097/SCS.0b013e3182646454.
- Ibrahimi OA, Chiu ES, McCarthy JG, Mohammadi M. Understanding the molecular basis of Apert syndrome. Plast Reconstr Surg. 2005 Jan;115(1):264-70.
- Katoh M. Therapeutics Targeting FGF Signaling Network in Human Diseases. Trends Pharmacol Sci. 2016 Dec;37(12):1081-1096. doi: 10.1016/j.tips.2016.10.003. Epub 2016 Oct 27.
- Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet. 2006 Mar;14(3):289-98. doi: 10.1038/sj.ejhg.5201558.
- Lew ED, Bae JH, Rohmann E, Wollnik B, Schlessinger J. Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):19802-7. doi: 10.1073/pnas.0709905104. Epub 2007 Dec 3.
- McGlaughlin KL, Witherow H, Dunaway DJ, David DJ, Anderson PJ. Spectrum of Antley-Bixler syndrome. J Craniofac Surg. 2010 Sep;21(5):1560-4. doi: 10.1097/SCS.0b013e3181ec6afe.
- Naimi B, Latil A, Fournier G, Mangin P, Cussenot O, Berthon P. Down-regulation of (IIIb) and (IIIc) isoforms of fibroblast growth factor receptor 2 (FGFR2) is associated with malignant progression in human prostate. Prostate. 2002 Aug 1;52(3):245-52. doi: 10.1002/pros.10104.
- 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.
- Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, Schlessinger J, Lax I. Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway. Mol Cell Biol. 2007 Oct;27(19):6903-12. doi: 10.1128/MCB.00544-07. Epub 2007 Aug 6.
- Shin EY, Lee BH, Yang JH, Shin KS, Lee GK, Yun HY, Song YJ, Park SC, Kim EG. Up-regulation and co-expression of fibroblast growth factor receptors in human gastric cancer. J Cancer Res Clin Oncol. 2000 Sep;126(9):519-28. doi: 10.1007/s004320000128.
- Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002 Oct 15;112(3):266-78. doi: 10.1002/ajmg.10775.
Artikelhistorik
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10 Apr 2023 | Senaste versionen
1 Jun 2020 | Ursprungligen publicerad
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