PREX2 Chromosome 8

Phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
3 variants 3 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Dbl family Rho GEFs|PDZ domain containing|DEP domain containing"
Locus Type
gene with protein product
Location
8q13.2
Ensembl
ENSG00000046889
Associated Conditions (3)
Lip and oral cavity carcinoma
PREX2-related disorder
Cerebral arteriovenous malformation
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS4512367 Health Risk association Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS147538692 Health Risk Conflicting classifications of pathogenicity PREX2-related disorder, PREX2-related disorder
RS778089198 Health Risk Likely pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
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