- Catalog number
- PA2143-PE
- Size / count
- 100 µg
- Dry ice
- No
- Hazardous
- No
- Discontinued
- Yes
- Background
- Fibroblast growth factor receptor 3, also known as CD333, is a protein that in humans is encoded by the FGFR3 gene. 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. The FGFR3 gene is mapped to the HD region on chromosome 4p16.3. 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.
- Synonyms
- Fibroblast growth factor receptor 3;FGFR-3;2.7.10.1;CD333;FGFR3;JTK4;
- Gene Name
- Fibroblast growth factor receptor 3
- UniProt
- P22607
- Host
- Rabbit
- Reactivity
- Human,Rat
- Cross Reactivity
- No cross-reactivity with other proteins
- Immunogen
- A synthetic peptide corresponding to a sequence at the N-terminus of human FGFR3, different from the related rat sequence by two amino acids, and from the related mouse sequence by three amino acids.
- Clonality
- Polyclonal
- Tissue Specificity
- Expressed in brain, kidney and testis. Very low or no expression in spleen, heart, and muscle. In 20- to 22- week old fetuses it is expressed at high level in kidney, lung, small intestine and brain, and to a lower degree in spleen, liver, and muscle. Isoform 2 is detected in epithelial cells. Isoform 1 is not detected in epithelial cells. Isoform 1 and isoform 2 are detected in fibroblastic cells. .
- Applications
- IHC,ICC,WB
- Purification
- Immunogen affinity purified.
- Concentration
- Add 0.2ml of distilled water will yield a concentration of 500ug/ml.
- Form
- Lyophilized
- Reconstitution
- Add 0.2ml of distilled water will yield a concentration of 500ug/ml.
- 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 and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. 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. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B. Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling. .
- Components
- Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3.
- References & Citations
- 1. Almeida, M. R., Campos-Xavier, A. B., Medeira, A., Cordeiro, I., Sousa, A. B., Lima, M., Soares, G., Rocha, M., Saraiva, J., Ramos, L., Sousa, S., Marcelino, J. P., Correia, A., Santos, H. G. Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3) in Portugal. Clin. Genet. 75: 150-156, 2009.
2. Barroso, E., Perez-Carrizosa, V., Garcia-Recuero, I., Glucksman, M. J., Wilkie, A. O., Garcia-Minaur, S., Heath, K. E. Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. Am. J. Med. Genet. 155A: 3050-3053, 2011.
- Storage Conditions
- Store at -20℃ for one year from date of receipt. After reconstitution, at 4℃ for one month. It can also be aliquotted and stored frozen at -20℃ for six months. Avoid repeated freeze-thaw cycles.
- Calculated Molecular Weight
- 87710 MW
- Observed Molecular Weight
- 49 kDa
- Fragment
- Rabbit IgG
- Specificity
- No cross reactivity with other proteins.
- Applications Notes
- Immunocytochemistry , 0.5-1μg/ml, Human, Rat<br>Immunohistochemistry (Paraffin-embedded Section), 0.5-1μg/ml, Human, Rat, By Heat<br>Western blot, 0.1-0.5μg/ml, Human, Rat<br>
- Subcellular Location
- Isoform 1: Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle. Endoplasmic reticulum. The activated receptor is rapidly internalized and degraded. Detected in intracellular vesicles after internalization of the autophosphorylated receptor.
- Sequence Similarities
- Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily.
- Protein Name
- Fibroblast growth factor receptor 3
