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Description for Protein FGFR2

fibroblast growth factor receptor 2
20 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 1; platelet: 18)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • IGC2: Immunoglobulin C-2 Type
  • TM: Transmembrane domain
  • Tyr_Kinase: tyrosine kinase domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.10.1
    KEGG - Orthology:
    K05093
    KEGG - Pathway(s):
    hsa04010; hsa04144; hsa04810; hsa05200; hsa05215
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Fibroblast growth factor receptor 2 isoform 1; Fibroblast growth factor receptor 2 isoform 3; Keratinocyte growth factor receptor; KGFR; Fibroblast growth factor receptor BEK; KSAM 1; K sam protein; Protein tyrosine kinase receptor like 14; FGF receptor; TK14; BEK; JWS; CFD1; ECT1; TK25; BFR-1; EC 2.7.1.112; Tyrosylprotein kinase; Bacteria expressed kinase; Hydroxyaryl protein kinase; BEK fibroblast growth factor receptor; Transmembrane protein tyrosine kinase; CEK3
    Approved Symbol:
    FGFR2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 144
    Human (de-) phosphorylation sites: 144; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 1
    Human phosphorylation targets: 1; Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • 4-[4-(1-Amino-1-Methylethyl)Phenyl]-5-Chloro-N-[4-(2-Morpholin-4-Ylethyl)Phenyl]Pyrimidin-2-Amine(db);
  • Palifermin(db);
  • SU4984(db);
  • Thalidomide(db)

    Associated Genetic Diseases:

  • Apert syndrome(Pd);
  • Beare-Stevenson cutis gyrata syndrome(Pd);
  • Craniosynostosis, nonsyndromic unicoronal(Pd);
  • Crouzon syndrome(Pd);
  • Jackson-Weiss syndrome(Pd);
  • Ladd syndrome(Pd);
  • Pfeiffer syndrome(Pd);
  • Pfeiffer syndrome variant(Pd);
  • Pfeiffer syndrome, type III(Pd);
  • Saethre-Chotzen syndrome(Pd)
    		• Predicted Transmembrane Domains:
    01492_20(1)
    01492_19(1)
    01492_18(0)
    01492_17(1)
    01492_16(1)
    01492_15(1)
    01492_14(1)
    01492_13(1)
    01492_12(1)
    01492_11(0)
    01492_10(1)
  • Isoform 9 : 1
  • Isoform 8 : 1
  • Isoform 7 : 1
  • Isoform 6 : 0
  • Isoform 5 : 1
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 01492 Entrez Gene ID: 2263 OMIM ID: 176943 Swissprot Accession: P21802; Q8IXC7; B4DFC2;