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FGFR2

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]
Full Name
Fibroblast Growth Factor Receptor 2
Function
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, 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.
Biological Process
Angiogenesis Source: UniProtKB
Animal organ morphogenesis Source: UniProtKB
Apoptotic process Source: UniProtKB-KW
Axonogenesis Source: UniProtKB
Bone development Source: UniProtKB
Bone mineralization Source: UniProtKB
Bone morphogenesis Source: UniProtKB
Branch elongation involved in salivary gland morphogenesis Source: UniProtKB
Branching involved in labyrinthine layer morphogenesis Source: UniProtKB
Branching involved in prostate gland morphogenesis Source: UniProtKB
Branching involved in salivary gland morphogenesis Source: UniProtKB
Branching morphogenesis of a nerve Source: UniProtKB
Bud elongation involved in lung branching Source: UniProtKB
Cell-cell signaling Source: UniProtKB
Cell fate commitment Source: UniProtKB
Cellular response to retinoic acid Source: Ensembl
Cellular response to transforming growth factor beta stimulus Source: Ensembl
Digestive tract development Source: UniProtKB
Embryonic cranial skeleton morphogenesis Source: BHF-UCL
Embryonic digestive tract morphogenesis Source: UniProtKB
Embryonic organ development Source: UniProtKB
Embryonic organ morphogenesis Source: UniProtKB
Embryonic pattern specification Source: UniProtKB
Endochondral bone growth Source: Ensembl
Epidermis morphogenesis Source: UniProtKB
Epithelial cell differentiation Source: UniProtKB
Epithelial cell proliferation involved in salivary gland morphogenesis Source: UniProtKB
Epithelial to mesenchymal transition Source: Ensembl
Fibroblast growth factor receptor signaling pathway Source: UniProtKB
Fibroblast growth factor receptor signaling pathway involved in hemopoiesis Source: UniProtKB
Fibroblast growth factor receptor signaling pathway involved in mammary gland specification Source: UniProtKB
Fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell Source: UniProtKB
Fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development Source: UniProtKB
Fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow Source: UniProtKB
Gland morphogenesis Source: UniProtKB
Hair follicle morphogenesis Source: UniProtKB
Inner ear morphogenesis Source: UniProtKB
In utero embryonic development Source: UniProtKB
Lacrimal gland development Source: UniProtKB
Lateral sprouting from an epithelium Source: UniProtKB
Limb bud formation Source: UniProtKB
Lung alveolus development Source: UniProtKB
Lung-associated mesenchyme development Source: UniProtKB
Lung development Source: UniProtKB
Lung lobe morphogenesis Source: UniProtKB
Mammary gland bud formation Source: UniProtKB
Membranous septum morphogenesis Source: UniProtKB
Mesenchymal cell differentiation Source: UniProtKB
Mesenchymal cell differentiation involved in lung development Source: UniProtKB
Mesenchymal cell proliferation involved in lung development Source: UniProtKB
Mesodermal cell differentiation Source: Ensembl
Midbrain development Source: UniProtKB
Morphogenesis of embryonic epithelium Source: UniProtKB
Negative regulation of keratinocyte proliferation Source: BHF-UCL
Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Odontogenesis Source: UniProtKB
Orbitofrontal cortex development Source: UniProtKB
Organ growth Source: UniProtKB
Otic vesicle formation Source: UniProtKB
Outflow tract septum morphogenesis Source: UniProtKB
Peptidyl-tyrosine phosphorylation Source: UniProtKB
Positive regulation of canonical Wnt signaling pathway Source: UniProtKB
Positive regulation of cardiac muscle cell proliferation Source: UniProtKB
Positive regulation of cell cycle Source: UniProtKB
Positive regulation of cell division Source: UniProtKB
Positive regulation of cell population proliferation Source: UniProtKB
positive regulation of epithelial cell proliferation Source: UniProtKB
Positive regulation of epithelial cell proliferation involved in lung morphogenesis Source: UniProtKB
Positive regulation of ERK1 and ERK2 cascade Source: UniProtKB
Positive regulation of kinase activity Source: GO_Central
Positive regulation of MAPK cascade Source: UniProtKB
Positive regulation of mesenchymal cell proliferation Source: UniProtKB
Positive regulation of phospholipase activity Source: UniProtKB
Positive regulation of smooth muscle cell proliferation Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Positive regulation of Wnt signaling pathway Source: UniProtKB
Post-embryonic development Source: UniProtKB
Prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis Source: UniProtKB
Prostate epithelial cord elongation Source: UniProtKB
Prostate gland morphogenesis Source: UniProtKB
Protein autophosphorylation Source: UniProtKB
Pyramidal neuron development Source: UniProtKB
Regulation of ERK1 and ERK2 cascade Source: UniProtKB
Regulation of morphogenesis of a branching structure Source: UniProtKB
Regulation of osteoblast differentiation Source: UniProtKB
Regulation of osteoblast proliferation Source: UniProtKB
Regulation of smoothened signaling pathway Source: UniProtKB
Regulation of smooth muscle cell differentiation Source: UniProtKB
Reproductive structure development Source: UniProtKB
Response to ethanol Source: Ensembl
Response to lipopolysaccharide Source: Ensembl
Skeletal system morphogenesis Source: UniProtKB
Squamous basal epithelial stem cell differentiation involved in prostate gland acinus development Source: UniProtKB
Transmembrane receptor protein tyrosine kinase signaling pathway Source: GO_Central
Ureteric bud development Source: UniProtKB
Ventricular cardiac muscle tissue morphogenesis Source: UniProtKB
Ventricular zone neuroblast division Source: UniProtKB
Wound healing Source: Ensembl
Cellular Location
Golgi apparatus; Cell membrane; Cytoplasmic vesicle. Detected on osteoblast plasma membrane lipid rafts. After ligand binding, the activated receptor is rapidly internalized and degraded.
Isoform 1: Cell membrane. After ligand binding, the activated receptor is rapidly internalized and degraded.
Isoform 3: Cell membrane. After ligand binding, the activated receptor is rapidly internalized and degraded.
Isoform 8&13: Secreted
Involvement in disease
Crouzon syndrome (CS):
An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.
Jackson-Weiss syndrome (JWS):
An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence.
Apert syndrome (APRS):
A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations.
Pfeiffer syndrome (PS):
A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).
Beare-Stevenson cutis gyrata syndrome (BSTVS):
An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet.
Familial scaphocephaly syndrome (FSPC):
An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation.
Lacrimo-auriculo-dento-digital syndrome (LADDS):
An autosomal dominant ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed.

Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2):
A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported.
Bent bone dysplasia syndrome (BBDS):
A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.
Saethre-Chotzen syndrome (SCS):
A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
Topology
Extracellular: 22-377
Helical: 378-398
Cytoplasmic: 399-821
PTM
Autophosphorylated. Binding of FGF family members together with heparan sulfate proteoglycan or heparin promotes receptor dimerization and autophosphorylation on several tyrosine residues. Autophosphorylation occurs in trans between the two FGFR molecules present in the dimer. Phosphorylation at Tyr-769 is essential for interaction with PLCG1.
N-glycosylated in the endoplasmic reticulum. The N-glycan chains undergo further maturation to an Endo H-resistant form in the Golgi apparatus.
Ubiquitinated. FGFR2 is rapidly ubiquitinated after autophosphorylation, leading to internalization and degradation. Subject to degradation both in lysosomes and by the proteasome.

Anti-FGFR2 antibodies

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Target: FGFR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: CAP764
Application*: ICC, IHC, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: CAP763
Application*: IF, IHC, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 3F4
Application*: SE, E
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 2C11
Application*: WB, E
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: CBWJC-3698
Application*: WB, P, IC
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBYY-C2496
Application*: F, IF, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBYY-C2495
Application*: F, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBFYC-2704
Application*: E, P, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBFYC-2703
Application*: WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: CBFYC-2702
Application*: WB, IF, F
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 3B3
Application*: C, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 2D1
Application*: F, IF, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 1G3
Application*: E, P, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: 1-F1-E7
Application*: WB, IF/C, F
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 1A11
Application*: WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-1675
Application*: IH, N, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBXF-2992
Application*: E, IF, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBXF-1876
Application*: ED
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBXF-1875
Application*: EC
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBXF-0623
Application*: SE, E
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBXF-0616
Application*: E, P, WB
Target: FGFR2
Host: Rat
Antibody Isotype: IgG2a
Specificity: Mouse
Clone: CBXF-3315
Application*: WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-2633
Application*: WB, N
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBXF-3628
Application*: WB, IF, F
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-1936
Application*: WB, P, N, F, IF
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 5F7
Application*: F, IF, WB
Target: FGFR2
Host: Rat
Antibody Isotype: IgG2
Specificity: Mouse
Clone: CBXF-0622
Application*: WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBXF-0621
Application*: IF, IH, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBXF-3676
Application*: F, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBXF-3718
Application*: F, IF, P, WB
Target: FGFR2
Host: Rat
Antibody Isotype: IgG2
Specificity: Mouse
Clone: CBXF-2167
Application*: IH, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-2166
Application*: IH, N, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 4D6
Application*: F, IF, WB
Target: FGFR2
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: CBXF-0620
Application*: WB, IP, P, IF, F
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBXF-3711
Application*: E, WB, P
Target: FGFR2
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: CBXF-1210
Application*: WB, IP
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Rat, Human
Clone: CBXF-0619
Application*: WB, P, F, IF
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBXF-3777
Application*: WB, P, F, IF
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 1D3
Application*: F, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: CBXF-0618
Application*: WB, IH, IF
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-2632
Application*: WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-2629
Application*: F
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXF-2631
Application*: WB
Target: FGFR2
Host: Rat
Antibody Isotype: IgG2a
Specificity: Mouse
Clone: CBXF-3316
Application*: WB, N
Target: FGFR2
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: BA0282
Application*: IP, WB
Target: FGFR2
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human, Rat
Clone: BA0400
Application*: F, IF, P, WB
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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