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Description for Protein FGFR3

fibroblast growth factor receptor 3
41 total interacting proteins; 14 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 7)
Summary:
This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist 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 binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • IGC2: Immunoglobulin C-2 Type
  • TM: Transmembrane domain
  • Tyr_Kinase: tyrosine kinase domain
  • Ig_LIKE: Immunoglobulin like
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.10.1
    KEGG - Orthology:
    K05094
    KEGG - Pathway(s):
    hsa04010; hsa04144; hsa04810; hsa05200; hsa05219
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    ACH; CEK2; HSFGFR3EX; JTK4; Hydroxyaryl-protein kinase; Fibroblast growth factor receptor 3 isoform; Fibroblast growth factor receptor 3 isoform 2; FGRF3delTM; FGF R3; Human tyrosine kinase JTK4; Fibroblast growth factor receptor 3
    Approved Symbol:
    FGFR3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 22
    Human (de-) phosphorylation sites: 22; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 4
    Human phosphorylation targets: 4; Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Palifermin(db)

    Associated Genetic Diseases:

  • Achondroplasia(Pd);
  • Camptodactyly, tall stature, and hearing loss syndrome(Pd);
  • Colorectal cancer, somatic(Pd);
  • Crouzon syndrome with acanthosis nigricans(Pd);
  • Hypochondrodysplasia(Pd);
  • Hypochondroplasia(Pd);
  • Ladd syndrome(Pd);
  • Muenke syndrome(Pd);
  • Multiple myeloma, somatic(Pd);
  • Saddan dysplasia(Pd);
  • Thanatophoric dysplasia, type I(Pd);
  • Thanatophoric dysplasia, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 00624 Entrez Gene ID: 2261 OMIM ID: 134934 Swissprot Accession: P22607; Q59FL9; Q0IJ44;