THE AFFECTED GENE
FIBROBLAST GROWTH FACTOR RECEPTOR 2 (FGFR2)
Fibroblast growth factor receptor 2 (FGFR2) is a protein that in humans is encoded by the FGFR2 gene
It resides on Chromosome 10, on the long arm at 10q26.13, the location base pairs begins at 123237844bp and ends at 123357972bp. [1] The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2. This protein is one of four FGFR (1-4), which are related proteins that are involved in important processes such as cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and embryonic development.[2] The FGFR2 gene is comprised of approximately 21 exons:
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The FGFR2 protein itself is composed of multiple parts that spans both inside and outside the cell membrane, allowing the protein to interact with specific growth factors outside the cell and to receive signals that help the cell respond to its environment. [6]
The FGFR2 protein plays an important role in bone growth, particularly during embryonic development as it signals certain immature cells to develop into bone at the hands, feet and skull. Subsequent activation of the receptor stimulates intracellular pathways inside the cell, which mediate mitogenesis.[13] This signal cascade is down‐regulated by the ubiquitination of FGFR2, followed by internalization and degradation by either lysosomes or by the proteasome The FGFR2 consist of [13]
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Furthermore, FGFR undergoes alternate splicing resulting in isoforms of FGFR. These isoforms vary in their ligand-binding properties and kinase domains, however all share the common extracellular region.
FGFR2 has two naturally occurring isoforms FGFR2IIIb and FGFR2IIIc, created by splicing of the third immunoglobulin-like domain. [6]
The three immunoglobin(Ig)-like domains - D1, D2, and D3 - present a stretch of acidic amino acids that participate in the regulation of FGF binding to the FGFR. [22] |