FGFR2 is a member of the fibroblast growth factor receptor family. It is a tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays a central role in the regulation of cell proliferation, differentiation, migration, apoptosis, and embryonic development. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
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Protein Aliases: bacteria-expressed kinase; BEK fibroblast growth factor receptor; CD332; FGF Receptor 2; FGFR-2; Fibroblast growth factor receptor 2; K-sam; Keratinocyte growth factor receptor; KGFR; protein tyrosine kinase, receptor like 14; Soluble KGFR
Gene Aliases: BBDS; BEK; BFR-1; CD332; CEK3; CFD1; ECT1; FGFR2; JWS; K-SAM; KGFR; KSAM; TK14; TK25
UniProt ID: (Human) P21802
Entrez Gene ID: (Human) 2263
Molecular Function: transmembrane signal receptor