Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | FGFR2 |
| Gene Name: | FGFR2 |
| Protein Full Name: | Fibroblast growth factor receptor 2 |
| Alias: | BEK; BFR1; BFR-1; CD332; CEK3; CFD1; Crouzon syndrome; EC 2.7.10.1; ECT1; FGFR-2; Fibroblast growth factor receptor 2; JWS; Keratinocyte growth factor receptor; KGFR; Kinase FGFR2; K-SAM; KSAM-1; Pfeiffer syndrome; TK14; TK25 |
| Mass (Da): | 92025 |
| Number AA: | 821 |
| UniProt ID: | P21802; Q16888; Q7KZ14 |
| Locus ID: | 2263 |
| COSMIC ID: | FGFR2 |
| Gene location on chromosome: | 10q26 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 26057 |
| Percent of cancer specimens with mutations: | 1.58 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations and 2 insertions, but no complex mutations and deletions, across entire protein. |
| Commonly recorded point mutations: | S252W (48); |
| Found in amplified chromosomal regions in human cancers: | endometrial cancer, lung cancer, breast cancer, gastric cancer, ovarian cancer |
| Normal role description: | Functions as a transmembrane receptor tyrosine kinase for members of the FGF family. Plays an important role in regulation of cell differentiation, proliferation, migration and apoptosis. Involved in differentiation and proliferation of osteoblasts and keratinocytes. Activates several signalling cascades, such as the MAPK and AKT1 pathway. Missense mutations are associated with ligand independent activation of TK25 (FGFR2) or an activating autocrine signalling loop. Overexpressed TK25 activates STAT1. Mutations and gene amplifications are involved in various human cancers. Overexpression has been associated with tumorigenesis. Certain missense mutations have been associated with breast, ovarian, endometrial, prostate, bladder, gastric and lung cancers. |
| Commentary on involvement of protein in cancer: | S252 is locatedin the extracellular region of FGFR2.S252W in APRS and PS; common mutation. N549 is located in the kinase catalytic domain close to subdomain III. N549H in CS; constitutive kinase activity. |