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]

  • Nucleotide binding
  • Protein kinase activity
  • Protein serine/threonine/tyrosine kinase activity
  • Enables protein tyrosine kinase activity
  • Enables transmembrane receptor protein tyrosine kinase activity
  • Located in extracellular region
  • Located in nucleus
  • Located in cytoplasm
  • Located in Golgi apparatus
  • Located in plasma membrane
  • Involved in negative regulation of transcription by RNA polymerase II
  • Involved in angiogenesis
  • Involved in ureteric bud development
  • Involved in in utero embryonic development
  • Involved in epithelial to mesenchymal transition
  • Abnormality of body height
  • Autosomal dominant inheritance
  • Abnormal morphology of female internal genitalia
  • Functional abnormality of the bladder
  • Abnormality of the bladder
  • Cryptorchidism
  • Abnormality of male external genitalia
  • Abnormal testis morphology
  • Abnormal penis morphology
  • Abnormality of the scrotum
  • Hypospadias
  • Bifid scrotum
  • Abnormality of female external genitalia
  • Abnormality of the clitoris
  • Abnormal labia morphology
  • Hypoplastic labia majora
  • Fused labia minora
  • Labial hypoplasia
  • Abnormality of the ureter
  • Vesicoureteral reflux
  • Abnormality of the kidney
  • Abnormality of the genital system
  • Abnormality of the urinary system
  • Horseshoe kidney

FGFR2 Localizations – Subcellular Localization Database

EmwStructure of the FGFR2 protein. Based on PyMOL rendering of PDB 1djs.

Gene Location