fibroblast growth factor receptor 2
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Diagnostic Grade (Green)
Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChoanal atresia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownClefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCommon craniosynostosis syndromes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDeafness and congenital structural abnormalities
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+15 more panels — install the extension to see the full list inline on any page.
Crouzon syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
Jackson-Weiss syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
cancer
Lacrimoauriculodentodigital syndrome
bent bone dysplasia syndrome 1
LADD syndrome 1
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Fibroblast growth factor receptor 2
Tyrosine-protein kinase that acts as a 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, trophoblast function, 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
Curated MONDO disease pages that list FGFR2 among their top associated genes.
FGFR2 · P21802
Mean pLDDT
73.9/ 100
Confident
821 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
