Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, a...[+]

Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1. [-]

             Antley-Bixler syndrome with disordered steroidogenesis
             Beare-Stevenson cutis gyrata syndrome
             stomach cancer
             pre-eclampsia
             acrocephalosyndactylia
             Pfeiffer syndrome
             Saethre-Chotzen syndrome
             Crouzon syndrome
             Jackson-Weiss syndrome
             hereditary diffuse gastric cancer
             Antley-Bixler syndrome without disordered steroidogenesis

          DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME; DGLBC
          SAETHRE-CHOTZEN SYNDROME; SCS
          ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;
          APERT SYNDROME
          BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS
          CROUZON SYNDROME
          JACKSON-WEISS SYNDROME; JWS
          PFEIFFER SYNDROME
          GASTRIC CANCER
          BENT BONE DYSPLASIA SYNDROME 1; BBDS1
          SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD