FGFR2

Full Name: Fibroblast Growth Factor Receptor 2

BACKGROUND: 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 consists 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 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. 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.

Synonyms: Fibroblast Growth Factor Receptor 2; Keratinocyte Growth Factor Receptor; Bacteria-Expressed Kinase; EC 2.7.10.1; K-SAM; KGFR; BEK; Protein Tyrosine Kinase, Receptor Like 14; BEK Fibroblast Growth Factor Receptor; Craniofacial Dysostosis 1; Jackson-Weiss Syndrome; Pfeiffer Syndrome; Crouzon Syndrome; CD332 Antigen