Overview:

FGFR2 is a member of the fibroblast growth factor receptor family which play a role in mitogenesis and differentiation. FGFR2 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, and mutations in FGFR2 are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis (1). FGFR2 is required for early postimplantation development between implantation and the formation of the egg cylinder (2). FGFR2 contributes to the outgrowth, differentiation, and maintenance of the inner cell mass.

Gene Aliases:

K-SAM, BFR-1, CEK3, ECT1, TK14, TK25, CD332, JWS, TK14

Genbank Number:

BC039243

References:

1.Arman, E.; : Targeted disruption of fibroblast growth factor (FGF) receptor 2 suggests a role for FGF signaling in pregastrulation mammalian development. Proc. Nat. Acad. Sci. 95: 5082-5087, 1998.

2.Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am. J. Hum. Genet. 70: 472-486, 2002.