Fibroblast Growth Factor Receptor 2 (FGFR2)

CD332; BEK; BFR1; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; TK14; Bacteria-Expressed Kinase,Keratinocyte Growth Factor Receptor; Craniofacial Dysostosis 1; Crouzon Syndrome

SPN	V046
HGNC	3689
MGI	95523
PubMed	9435295
RGD	2611
UniProt	P21802
Wiki	FGFR2

Fibroblast growth factor receptor 2 (FGFR2) is a receptor for fibroblast growth factor encoded on a gene residing on chromosome 10. FGFR2 has also been designated as CD332 (cluster of differentiation 332). 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.

Reference

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Erratum
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"Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome."
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"FGFR2 mutations in Pfeiffer syndrome."
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"Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome."
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"Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes."
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"Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders."
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"Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2."
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"A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly."
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"Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene."
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Am. J. Hum. Genet. 70:472-486(2002) [PubMed] [Europe PMC] [Abstract]

"Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome."
Clin. Genet. 61:218-221(2002) [PubMed] [Europe PMC] [Abstract]

"Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain."
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"Mutations in different components of FGF signaling in LADD syndrome."
Nat. Genet. 38:414-417(2006) [PubMed] [Europe PMC] [Abstract]

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"Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling."
Am. J. Hum. Genet. 90:550-557(2012) [PubMed] [Europe PMC] [Abstract]