Atlas of Genetics and Cytogenetics in Oncology and Haematology
FGFR3 (Fibroblast Growth Factor Receptor 3)
| Identity |
| HGNC (Hugo) | FGFR3 |
| Location | 4p16.3 |
| Location_base_pair | Starts at 1764837 and ends at 1780396 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| Local_order | centromere - IT 15 - FGFR 3 - IDUA - MYL 5 - ZNF 141 - telomere |
| DNA/RNA |
 | |
| c-FGFR3 (4p16.3) in normal cells: PAC 1054L13 (above) and PAC 1174P18 (below) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are wellcome: contact M Rocchi | |
| Description | 16.5 Kb; 19 exons; exon 1 unknown in human |
| Transcription | 4.0 Kb mRNA; large 3' untranslated region (1.4 kb); alternative splicing of exons 7 and 8 gives rise to two isoforms IIIb and IIIc |
| Protein |
 | |
| Protein Diagram | |
| Description | 806 amino acids; 115 kDa; tyrosine kinase receptor; contains three major domains: an extracellular domain with 3 Ig-like loops, a highly hydrophobic transmembrane domain (22 amino acids) and an intracellular domain with tyrosine kinase activity |
| Expression | mostly in brain, cartilage, liver, inner ear, kidney |
| Localisation | plasma membrane |
| Function | FGF receptor with tyrosine kinase activity; binding of ligand (FGF) induces receptor dimerization, autophosphorylation and signal transduction |
| Homology | with other FGFR (1, 2 and 4); Cek 2 in chicken |
| Implicated in |
| Entity | t(4;14)(p16.3;q32.3)/multiple myeloma --> FGFR3 -IgH |
| Disease | plasma cell leukaemia and multiple myeloma |
| Prognosis | unknown: found in 11 cases, but with no data on clinics |
| Abnormal Protein | no fusion protein, but promoter exchange between both partner genes |
| Oncogenesis | overexpression and activation of FGFR 3 provides an oncogenic signal |
| Entity | squeletal dysplasia (inborn diseases) |
| Disease | hypochondroplasia, achondroplasia, thanatophoric dwarfism (TD I and II), Crouzon syndrome with acanthosis nigricans and coronal craniosynostosis; endochondral and membranous ossification defects are caused by recurrent missense mutations |
| Breakpoints |
 | |
| Note | Chromosome 4 breakpoints are clustured in a 50-70 kb region centromeric to FGFR 3 |
| External links |
| Bibliography |
| Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. |
| Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A |
| Nature. 1994 ; 371 (6494) : 252-254. |
| PMID 8078586 |
| FGFR activation in skeletal disorders: too much of a good thing. |
| Webster MK, Donoghue DJ |
| Trends in genetics : TIG. 1997 ; 13 (5) : 178-182. |
| PMID 9154000 |
| Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. |
| Chesi M, Nardini E, Brents LA, Schrˆck E, Ried T, Kuehl WM, Bergsagel PL |
| Nature genetics. 1997 ; 16 (3) : 260-264. |
| PMID 9207791 |
| A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. |
| Richelda R, Ronchetti D, Baldini L, Cro L, Viggiano L, Marzella R, Rocchi M, Otsuki T, Lombardi L, Maiolo AT, Neri A |
| Blood. 1997 ; 90 (10) : 4062-4070. |
| PMID 9354676 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 02-1998 | Jacky Bonaventure |
| Unité INSERM 393, Hopital Necker-Enfants Malades 149 rue de Sèvres 75743 Paris Cedex 15, France |
| Citation |
| This paper should be referenced as such : |
| Bonaventure J . FGFR3 (Fibroblast Growth Factor Receptor 3). Atlas Genet Cytogenet Oncol Haematol. February 1998 . URL : http://AtlasGeneticsOncology.org/Genes/FGFR99.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Jun 27 16:39:03 CEST 2009 |
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