Description: Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 3, mRNA. RefSeq Summary (NM_001163213): This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. 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. [provided by RefSeq, Aug 2017]. Transcript (Including UTRs) Position: hg19 chr4:1,795,039-1,810,599 Size: 15,561 Total Exon Count: 18 Strand: + Coding Region Position: hg19 chr4:1,795,662-1,808,989 Size: 13,328 Coding Exon Count: 17
bladder cancer Hernandez, S. et al. 2006, Prospective study of FGFR3 mutations as a prognostic factor in nonmuscle invasive urothelial bladder carcinomas, J Clin Oncol 2006 24(22) 3664-71.
[PubMed 16877735]
The findings of this large study strongly support the notion that FGFR3 mutations characterize a subgroup of bladder cancers with good prognosis; patients with mutant TaG1 tumors have a higher risk of recurrence; and the F386L variant is selectively associated with low-grade tumors.
craniosynostosis Moko SB et al. 2001, New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis., Journal of cranio-maxillo-facial surgery. 2001 Feb;29(1):22-4.
[PubMed 11467490]
Our data and those of other investigators suggest that we should begin integrating molecular diagnosis with phenotypic diagnosis of craniosynostoses.
multiple myeloma Fracchiolla NS et al. 1998, FGFR3 gene mutations associated with human skeletal disorders occur rarely in multiple myeloma., Blood. 1998 Oct;92(8):2987-9.
[PubMed 9763594]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 48726 - Immunoglobulin 56112 - Protein kinase-like (PK-like)
ModBase Predicted Comparative 3D Structure on P22607-2
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.