FGFR3

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]

Description

fibroblast growth factor receptor 3

Protein family

CD markers, Enzymes, Kinases, Membrane proteins predicted by MDM, Secreted proteins predicted by MDSP

Chromosome

4:p16.3 (1795034 - 1810599)

Ensembl ID

ENSG00000068078  (ver. 69.37)

Orthologs

Mouse Fgfr3: ENSMUSG00000054252

Human splice variants
Mouse splice variants