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Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
Available structures
1ry7
Identifiers
Symbols FGFR3; ACH; CD333; CEK2; HSFGFR3EX; JTK4
External IDs OMIM134934 MGI95524 HomoloGene55437 GeneCards: FGFR3 Gene
EC number 2.7.1.112
RNA expression pattern
PBB GE FGFR3 204379 s at tn.png
PBB GE FGFR3 204380 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2261 14184
Ensembl ENSG00000068078 ENSMUSG00000054252
UniProt P22607 Q3TQL1
RefSeq (mRNA) NM_000142 NM_008010
RefSeq (protein) NP_000133 NP_032036
Location (UCSC) Chr 4:
1.76 - 1.78 Mb
Chr 5:
34.04 - 34.05 Mb
PubMed search [1] [2]

Fibroblast growth factor receptor 3 is a protein that in humans is encoded by the FGFR3 gene.[1] FGFR3 has also been designated as CD333 (cluster of differentiation 333).

Contents

Structure and function

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. Alternative splicing occurs and additional variants have been described, including those utilizing alternate exon 8 rather than 9, but their full-length nature has not been determined.[2]

Disease linkage

Defects in the FGFR3 gene has been associated with several conditions, including:

Interactions

Fibroblast growth factor receptor 3 has been shown to interact with FGF1[5][6] and FGF9.[5][6]

See also

References

  1. ^ Keegan K, Johnson DE, Williams LT, Hayman MJ (Mar 1991). "Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3". Proc Natl Acad Sci U S A 88 (4): 1095–9. PMID 1847508.  
  2. ^ "Entrez Gene: FGFR3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2261.  
  3. ^ Hafner C, Hartmann A, Vogt T (2007). "FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin". J. Invest. Dermatol. 127 (7): 1572–3. doi:10.1038/sj.jid.5700772. PMID 17568799.  
  4. ^ Lamy A, Gobet F, Laurent M, et al. (2006). "Molecular profiling of bladder tumors based on the detection of FGFR3 and TP53 mutations". J. Urol. 176 (6 Pt 1): 2686–9. doi:10.1016/j.juro.2006.07.132. PMID 17085196.  
  5. ^ a b 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.  
  6. ^ a b Chellaiah, A; Yuan W, Chellaiah M, Ornitz D M (Dec. 1999). "Mapping ligand binding domains in chimeric fibroblast growth factor receptor molecules. Multiple regions determine ligand binding specificity". J. Biol. Chem. (UNITED STATES) 274 (49): 34785–94. ISSN 0021-9258. PMID 10574949.  

Further reading

  • Schweitzer DN, Graham JM, Lachman RS, et al. (2001). "Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.". Am. J. Med. Genet. 98 (1): 75–91. PMID 11426459.  
  • Horton WA, Lunstrum GP (2003). "Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism.". Reviews in endocrine & metabolic disorders 3 (4): 381–5. PMID 12424440.  
  • Bonaventure J, Silve C (2006). "[Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways]". Med Sci (Paris) 21 (11): 954–61. PMID 16274647.  
  • Hernández S, Toll A, Baselga E, et al. (2007). "Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors.". J. Invest. Dermatol. 127 (7): 1664–6. doi:10.1038/sj.jid.5700705. PMID 17255960.  
  • Olsen SK, et al. (2004). "Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity.". PNAS USA 101 (4): 935–40. PMID 14732692.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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