Fibroblast growth factor receptor 3

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Fibroblast growth factor receptor 3
PDB 1ry7 EBI.jpg
Rendering of 1ry7
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols FGFR3 ; ACH; CD333; CEK2; HSFGFR3EX; JTK4
External IDs OMIM134934 MGI95524 HomoloGene55437 ChEMBL: 2742 GeneCards: FGFR3 Gene
EC number 2.7.10.1
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 E9QNJ9
RefSeq (mRNA) NM_000142 NM_001163215
RefSeq (protein) NP_000133 NP_001156687
Location (UCSC) Chr 4:
1.8 – 1.81 Mb
Chr 5:
33.72 – 33.74 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).

Structure and function[edit]

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[edit]

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

Interactions[edit]

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

See also[edit]

References[edit]

  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. doi:10.1073/pnas.88.4.1095. PMC 50963. PMID 1847508. 
  2. ^ "Entrez Gene: FGFR3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)". 
  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. doi:10.1074/jbc.271.3.1726. 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. doi:10.1074/jbc.274.49.34785. ISSN 0021-9258. PMID 10574949. 

Further reading[edit]

External links[edit]

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