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fibroblast growth factor receptor 2 (FGFR2(N550K))

Target Class
Kinase
Family
TK
Official Symbol
FGFR2
Entrez Gene ID
2263
Species
Human
Accession Number
NP_075259.4
Alias Names
BEK; BEK fibroblast growth factor receptor; BFR-1; CD332; CEK3; CFD1; ECT1; FGF receptor; FGFR-2; JWS; Jackson-Weiss syndrome; K-SAM; KGFR; TK14; TK25; bacteria-expressed kinase; craniofacial dysostosis 1; fibroblast growth factor receptor 2; hydroxyaryl-protein kinase; keratinocyte growth factor receptor; protein tyrosine kinase, receptor like 14; soluble FGFR4 variant 4
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. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
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Related Group Members: TK
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KINOMEscan TKscan BROMOscan NHRscan GPCRscan PATHscan
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