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FGFR2 is a member of the FGFR family of receptor tyrosine kinases. This family is known to regulate a host of cellular functions including angiogenesis, mitogenesis, osteogenesis, myogenesis, carcinogenesis, cellular differentiation, and tissue repair after injury. The FGFR family has also been implicated in a number of diseases including cancer, rheumatoid arthritis, and diabetic retinopathy. FGFR family members differ from one another in their ligand affinities and tissue distribution. 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