Targets / Kinase / FGFR3(G697C)

fibroblast growth factor receptor 3 (FGFR3(G697C))

Target Class
Kinase
Family
TK
Official Symbol
FGFR3
Entrez Gene ID
2261
Species
Human
Accession Number
NP_000133.1
Alias Names
ACH; CD333; CEK2; FGFR-3; HSFGFR3EX; JTK4; achondroplasia, thanatophoric dwarfism; fibroblast growth factor receptor 3; hydroxyaryl-protein kinase; tyrosine kinase JTK4
Background
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. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009]
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Related Group Members: TK
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