Fibroblast Growth Factor Receptor 2

Alternative Names

  • FGFR2
  • FGF Receptor
  • Protein Tyrosine Kinase, Receptor-Like, 14
  • TK14
  • Keratinocyte Growth Factor Receptor
  • KGFR
  • Bek, Mouse, Homolog Of
  • Fibroblast Growth Factor Receptor BEK
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OMIM Number

176943

NCBI Gene ID

2263

Uniprot ID

P21802

Length

120,129 bases

No. of Exons

24

No. of isoforms

17

Protein Name

Fibroblast growth factor receptor 2

Molecular Mass

92025 Da

Amino Acid Count

821

Genomic Location

chr10:121,478,329-121,598,457

Gene Map Locus
10q26.13

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000141.5:c.870G>CSaudi ArabiaNC_000010.11:g.121520048C>GLikely Pathogenic,PathogenicBeare-Stevenson Cutis Gyrata SyndromeNG_012449.1:g.83411G>C; NM_000141.5:c.870G>C; NP_000132.3:p.Trp290Cys12191849913281
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