PREX2 (Entrez ID: 80243)

Entrez Gene ID 80243
Official Gene Symbol PREX2 (GeneCards)
Full name phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
Location 8q13.2
Other ids Vega : OTTHUMG00000164402
MIM : 612139
HGNC : HGNC:22950
Ensembl : ENSG00000046889
Other names DEP.2, DEPDC2, P-REX2, PPP1R129
Summary The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016]

Variants

Found 98 variants in this database.