Background information
G3BP2 (GTPase activating protein (SH3 domain) binding protein 2) is a 482 amino acid protein that localizes to the cytoplasm and contains one NTF2 domain and one RRM domain. Existing as two alternatively spliced isoforms, G3BP2 acts as a scaffold protein that is thought to be involved in mRNA transport and is subject to post-translational methylation on select arginine residues. The gene encoding G3BP2 maps to human chromosome 4, which encodes nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes. Defects in some of the genes located on chromosome 4 are associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
