FGFR2
GeneName
FGFR2
Summary
FGFR2, also known as fibroblast growth factor receptor 2 or FGFR-2, is a 92kDa transmembrane receptor that plays a pivotal role in various biological processes including angiogenesis, organ morphogenesis, and cell signalling. It is expressed in multiple tissues, particularly during embryonic development, and is localised to the plasma membrane and cytoplasmic vesicles. FGFR2 binds to fibroblast growth factors (FGFs) and is involved in receptor dimerization and activation of downstream signalling pathways, such as the MAPK cascade. Its diverse functions include promoting cell proliferation, differentiation, and survival, as well as regulating morphogenetic processes in various organs such as the lungs, kidneys, and bones.
Importance
FGFR2 is relevant to: - Developmental biology due to its critical role in organogenesis and tissue morphogenesis - Cancer research, as mutations in FGFR2 are implicated in various malignancies, including breast and gastric cancers - Regenerative medicine, given its involvement in tissue repair and regeneration processes - Understanding congenital disorders linked to aberrant FGFR2 signalling, which can lead to syndromes affecting bone and organ development
Top Products
For researchers investigating FGFR2, we recommend two excellent primary antibodies that cater to different experimental needs. The first is the well-cited Anti-FGFR2 antibody [1G3] (ab58201), a monoclonal antibody that has garnered 31 citations, demonstrating its reliability in immunohistochemistry (IHC). This antibody is a trusted choice for those focusing on tissue samples.In addition, we offer the recombinant antibody Anti-FGFR2 antibody [EPR24075-418] (ab289968), which has been validated in knockout models and is suitable for a broader range of applications, including Western blotting (WB), IHC, immunocytochemistry (ICC), flow cytometry (FC), and immunoprecipitation (IP). With 3 citations, this recombinant antibody provides the batch-to-batch consistency that many researchers seek, making it an excellent option for various experimental setups. The Recombinant Human FGFR2 protein (Active) ELISA Kit (ab287927) is an excellent option for researchers looking to study FGFR2 in their experiments.
Abcam Product Citation Summary
The data indicates that FGFR2 is being investigated in various contexts related to human gastric cancer and pulmonary conditions. The use of Abcam antibody ab58201 in both immunohistochemistry and western blotting highlights its relevance in studying FGFR2 as a prognostic biomarker and its role in tumor suppression and regulation of YAP1 expression.
Abcam Product Citation Table
Domain
The second and third Ig-like domains directly interact with fibroblast growth factors (FGF) and heparan sulfate proteoglycans. Alternative splicing events affecting the third Ig-like domain are crucial for ligand selectivity.
Function
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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).
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Lacrimo-auriculo-dento-digital syndrome 1
LADD1
A form of lacrimo-auriculo-dento-digital syndrome, an autosomal dominant disease 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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Bent bone dysplasia syndrome 1
BBDS1
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Saethre-Chotzen syndrome
SCS
A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
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.
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Golgi apparatus
- Cytoplasmic vesicle
- Detected on osteoblast plasma membrane lipid rafts. After ligand binding, the activated receptor is rapidly internalized and degraded.
- Isoform 1
- Cell membrane
- Single-pass type I membrane protein
- After ligand binding, the activated receptor is rapidly internalized and degraded.
- Isoform 3
- Cell membrane
- Single-pass type I membrane protein
- After ligand binding, the activated receptor is rapidly internalized and degraded.
- Isoform 8
- Secreted
- Isoform 13
- Secreted
Alternative names
CD332, BEK, KGFR, KSAM, FGFR2, Fibroblast growth factor receptor 2, FGFR-2, K-sam, Keratinocyte growth factor receptor