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Fibroblast growth factor receptor 2: Wikis

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Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)

PDB rendering based on 1djs.
Available structures
1djs, 1e0o, 1ev2, 1gjo, 1ii4, 1iil, 1nun, 1oec, 1wvz, 2fdb
Identifiers
Symbols FGFR2; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; TK25
External IDs OMIM176943 MGI95523 HomoloGene22566 GeneCards: FGFR2 Gene
RNA expression pattern
PBB GE FGFR2 208228 s at tn.png
PBB GE FGFR2 203638 s at tn.png
PBB GE FGFR2 203639 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2263 14183
Ensembl ENSG00000066468 ENSMUSG00000030849
UniProt P21802 Q2TAY2
RefSeq (mRNA) NM_000141 XM_987418
RefSeq (protein) NP_000132 XP_992512
Location (UCSC) Chr 10:
122.47 - 123.35 Mb
Chr 7:
129.95 - 130.06 Mb
PubMed search [1] [2]

Fibroblast growth factor receptor 2 (FGFR2) is a receptor for fibroblast growth factor encoded on a gene residing on chromosome 10. FGFR2 has also been designated as CD332 (cluster of differentiation 332).

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 consists 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 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.[1]

Contents

Clinical significance

Mutations (changes) are associated with several medical conditions:

Interactions

Fibroblast growth factor receptor 2 has been shown to interact with FGF1.[3][4][5]

See also

References

  1. ^ "Entrez Gene: FGFR2 fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2263.  
  2. ^ Hunter DJ, Kraft P, Jacobs KB, et al. (2007). "A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer". Nature Genetics 39: 870. doi:10.1038/ng2075. PMID 17529973.  
  3. ^ Stauber, D J; DiGabriele A D, Hendrickson W A (Jan. 2000). "Structural interactions of fibroblast growth factor receptor with its ligands". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 97 (1): 49–54. ISSN 0027-8424. PMID 10618369.  
  4. ^ Pellegrini, L; Burke D F, von Delft F, Mulloy B, Blundell T L (Oct. 2000). "Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin". Nature (ENGLAND) 407 (6807): 1029–34. doi:10.1038/35039551. ISSN 0028-0836. PMID 11069186.  
  5. ^ Santos-Ocampo, S; Colvin J S, Chellaiah A, Ornitz D M (Jan. 1996). "Expression and biological activity of mouse fibroblast growth factor-9". J. Biol. Chem. (UNITED STATES) 271 (3): 1726–31. ISSN 0021-9258. PMID 8576175.  

Further reading

  • McKeehan WL, Kan M (1995). "Heparan sulfate fibroblast growth factor receptor complex: structure-function relationships.". Mol. Reprod. Dev. 39 (1): 69–81; discusison 81–2. doi:10.1002/mrd.1080390112. PMID 7999363.  
  • Johnson DE, Williams LT (1993). "Structural and functional diversity in the FGF receptor multigene family.". Adv. Cancer Res. 60: 1–41. doi:10.1016/S0065-230X(08)60821-0. PMID 8417497.  
  • Park WJ, Meyers GA, Li X, et al. (1996). "Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.". Hum. Mol. Genet. 4 (7): 1229–33. doi:10.1093/hmg/4.7.1229. PMID 8528214.  
  • Marie PJ, Debiais F, Haÿ E (2003). "Regulation of human cranial osteoblast phenotype by FGF-2, FGFR-2 and BMP-2 signaling.". Histol. Histopathol. 17 (3): 877–85. PMID 12168799.  
  • Ibrahimi OA, Chiu ES, McCarthy JG, Mohammadi M (2005). "Understanding the molecular basis of Apert syndrome.". Plast. Reconstr. Surg. 115 (1): 264–70. PMID 15622262.  
  • Wilkie AO (2005). "Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.". Cytokine Growth Factor Rev. 16 (2): 187–203. doi:10.1016/j.cytogfr.2005.03.001. PMID 15863034.  

External links

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