FGFR3
fibroblast growth factor receptor 3
2261
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ACH,CD333,CEK2,HSFGFR3EX,JTK4

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].
The main pathways: Binding of a growth factor (e.g., EGF, HGF) to a receptor tyrosine kinase activates the receptor tyrosine kinase and typically causes the dimerization of the two receptor monomers. The receptors are activated by phosphorylation within their kinase domains. Once the receptor is turned on, numerous downstream pathways are activated including MAP kinase signaling, JAK/STAT signaling, and PI3K/AKT1/MTOR signaling. Specific nodes in the pathway that are therapeutically actionable are noted. Click here to open a larger version of this image in a new window.

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| Gene | cDNA change | Protein change | Location |
|---|---|---|---|
| No data available. | |||
| Drug name | Other name | Product name | Type | Groups |
|---|---|---|---|---|
| Ponatinib | - | Iclusig | Small Molecule | Approved |