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FGFR3 - fibroblast growth factor receptor 3
Entrez Gene Name: fibroblast growth factor receptor 3
Synonyms: ACH, CD333, CEK2, FGFR3, Fgfr3 iiib, HBGFR, HSFGFR3EX, JTK4

Gene Summary

  • Human (2261): 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. [provided by RefSeq]
  • Rat (84489): may play a role in regulation and differentiation of various cell types, in the processes of regeneration, angiogenesis, and chemotaxis [RGD]

Cell Regulation

Regulates:
  • Erk
  • PLCG1
  • FRS2
View all 58 in IPA
Regulated by:
  • FGF2
  • FGF1
  • Fgfr
View all 61 in IPA
Binds:
  • HBZ
  • FGF2
  • FGF1
View all 73 in IPA
Role in cell:
  • proliferation
  • transformation
  • outgrowth
View all 19 in IPA
Disease:
  • neoplasia
  • hypoplasia
  • achondroplastic dwarfism
View all 23 in IPA

Biological Process

cell growth, cell-cell signaling, fibroblast growth factor receptor signaling pathway, forebrain development, inner ear development, inner ear receptor cell differentiation, JAK-STAT cascade, MAPKKK cascade, morphogenesis of an epithelium, negative regulation of cell proliferation, negative regulation of epithelial cell proliferation, positive regulation of apoptosis, positive regulation of cell differentiation, positive regulation of cell proliferation, positive regulation of MAPKKK cascade, positive regulation of peptidyl-tyrosine phosphorylation, positive regulation of protein ubiquitination, protein amino acid phosphorylation, sensory perception of sound, skeletal system development

Cellular Components

cell surface, cytoplasm, integral to membrane, integral to plasma membrane, internal side of plasma membrane, lysosome, membrane, nucleus, perinuclear region of cytoplasm, plasma membrane

Literature References

  • 16169070Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE. A human protein-protein interaction network: a resource for annotating the proteome.Cell 2005 Sep 23;122(6):957-68
  • 7888178van der Geer P, Hunter T, Lindberg RA. Receptor protein-tyrosine kinases and their signal transduction pathways.Annu Rev Cell Biol 1994;10:251-337
  • 7688944Fantl WJ, Johnson DE, Williams LT. Signalling by receptor tyrosine kinases.Annu Rev Biochem 1993;62:453-81
  • View 1312 categorized literature findings and their references in IPA

Molecular Functions

ATP binding, fibroblast growth factor binding, fibroblast growth factor receptor activity, growth factor activity, identical protein binding, kinase activity, nucleotide binding, protein kinase activity, protein tyrosine kinase activity, receptor activity, transferase activity, transmembrane receptor protein tyrosine kinase activity

Protein Domains

extracellular domain, fibroblast growth factor binding, fibroblast growth factor receptor, immunoglobulin domain, intracellular domain, kinase, kinase domain, protein self binding, protein-tyrosine kinase

Subcellular Locations

cell surface, cellular membrane, cytoplasm, lysosome, nucleus, perinuclear region, plasma membrane, secretory granules, vesicles