FGFR2

(redirected from Fibroblast growth factor receptor 2)
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FGFR2

A gene on chromosome 10q25.3-q26 that encodes fibroblast growth factor receptor-3, which has an extracellular region composed of 3 immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. Binding of a ligand unleashes a cascade of downstream signals that impact on mitogenesis and differentiation.

Molecular pathology
FGFR3 mutations are associated with Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome and syndromic craniosynostosis.
References in periodicals archive ?
Because the cephalometric examination and fibroblast growth factor receptor 2 were normal, we could exclude the diagnosis of Crouzon syndrome.
Fibroblast Growth Factor Receptor 2 [OMIM database on the Internet].
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
6] Human genes: ESR1, estrogen receptor 1; PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha; TP53, tumor protein p53; FGFR1, fibroblast growth factor receptor 1; FGFR2, fibroblast growth factor receptor 2.
Poster Title: Essential role of fibroblast growth factor receptor 2 (FGFR2) in tumorigenesis of human cancers harboring FGFR2 amplification demonstrated by a functional blocking antibody
The PCR was performed by amplifying 50-100 ng of genomic DNA in a Human genes: FGFR2, fibroblast growth factor receptor 2 (bacteriaexpressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome); FGFR3, fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism); TWISTI, twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila); MSX2, rush homeobox 2; EFNBI, ephrin-B1; ALPL, alkaline phosphatase, liver/bone/kidney.

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