PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
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]
Known Variants118 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs367860419 | 8:68,864,626 | G/C | — | likely benign |
| rs976251027 | 8:68,864,645 | C/G | — | uncertain significance |
| rs867797514 | 8:68,864,646 | G/T | — | uncertain significance |
| rs114174763 | 8:68,864,725 | G/A | — | benign |
| rs61753697 | 8:68,864,728 | G/A | — | benign |
| rs2536368311 | 8:68,864,751 | C/T | — | uncertain significance |
| rs569286968 | 8:68,914,092 | C/T | — | — |
| rs7817000 | 8:68,919,463 | C/A | intron variant | — |
| rs13253358 | 8:68,920,135 | C/T | intron variant | — |
| rs4512367 | 8:68,927,592 | C/T | regulatory region variant | association |
| rs146009571 | 8:68,930,106 | G/A | — | uncertain significance |
| rs139905707 | 8:68,930,127 | A/G | — | uncertain significance |
| rs143185949 | 8:68,931,840 | C/T | — | likely benign |
| rs764373905 | 8:68,931,841 | G/A | — | uncertain significance |
| rs1807584458 | 8:68,934,291 | T/A | — | not provided |
| rs953865013 | 8:68,934,342 | C/T | — | likely benign |
| rs745857499 | 8:68,934,362 | G/A | — | uncertain significance |
| rs1807752891 | 8:68,939,524 | T/C | — | uncertain significance |
| rs148808450 | 8:68,942,824 | C/T | — | likely benign |
| rs147937702 | 8:68,942,876 | C/T | — | uncertain significance |
| rs111476269 | 8:68,942,901 | C/T | — | benign |
| rs199819614 | 8:68,956,772 | G/A | — | uncertain significance |
| rs765498262 | 8:68,956,790 | A/G | — | uncertain significance |
| rs11784582 | 8:68,956,816 | G/A | — | likely benign |
| rs140987715 | 8:68,965,342 | T/C | — | likely benign |
| rs7813577 | 8:68,968,058 | T/C | — | benign |
| rs764216584 | 8:68,968,073 | T/G | — | uncertain significance |
| rs1434774 | 8:68,968,166 | C/A | — | benign |
| rs1054156818 | 8:68,968,167 | G/A | — | uncertain significance |
| rs1434775 | 8:68,968,171 | A/G | — | benign |
| rs6472373 | 8:68,968,410 | C/T | intron variant | — |
| rs1369164 | 8:68,972,907 | C/G | — | benign |
| rs143741795 | 8:68,981,258 | A/G | — | likely benign |
| rs764224860 | 8:68,981,357 | G/A | — | uncertain significance |
| rs111417126 | 8:68,981,359 | C/T | — | benign |
| rs78059728 | 8:68,981,377 | G/A | — | benign |
| rs193920825 | 8:68,982,066 | G/A | — | uncertain significance |
| rs199776134 | 8:68,989,641 | C/A | — | uncertain significance |
| rs147538692 | 8:68,989,671 | G/A | — | conflicting classifications of pathogenicity |
| rs1218381361 | 8:68,992,751 | A/G | — | likely benign |
| rs1414727260 | 8:68,992,812 | T/A | — | uncertain significance |
| rs140494334 | 8:68,993,003 | A/G | — | uncertain significance |
| rs12682458 | 8:68,993,013 | A/G | — | benign |
| rs12680555 | 8:68,993,014 | T/C | — | benign |
| rs1809496838 | 8:68,993,029 | A/G | — | uncertain significance |
| rs1030752 | 8:68,995,468 | C/T | — | benign |
| rs1030753 | 8:68,995,633 | A/G | — | benign |
| rs61738008 | 8:69,002,816 | A/T | — | benign |
| rs1485236786 | 8:69,002,945 | A/G | — | uncertain significance |
| rs146486437 | 8:69,002,946 | C/T | — | likely benign |
| rs117440451 | 8:69,002,958 | G/A | — | benign |
| rs768316437 | 8:69,005,844 | A/T | — | uncertain significance |
| rs2536595773 | 8:69,005,911 | G/C | — | uncertain significance |
| rs143964156 | 8:69,009,262 | C/G | — | uncertain significance |
| rs3812458 | 8:69,009,268 | C/T | — | benign |
| rs190776975 | 8:69,009,347 | G/A | — | uncertain significance |
| rs1336147758 | 8:69,009,355 | G/C | — | uncertain significance |
| rs755479314 | 8:69,009,359 | G/A | — | uncertain significance |
| rs955096765 | 8:69,009,369 | C/T | — | uncertain significance |
| rs2536602358 | 8:69,009,399 | T/C | — | uncertain significance |
| rs2536607535 | 8:69,011,988 | A/G | — | likely benign |
| rs141715219 | 8:69,012,021 | T/C | — | likely benign |
| rs2536607737 | 8:69,012,056 | A/G | — | uncertain significance |
| rs35559159 | 8:69,017,584 | T/G | — | benign |
| rs746407799 | 8:69,020,344 | T/C | — | uncertain significance |
| rs1810458161 | 8:69,020,486 | C/T | — | uncertain significance |
| rs4260880 | 8:69,020,496 | T/C | — | benign |
| rs766760003 | 8:69,020,497 | G/A | — | uncertain significance |
| rs1810459312 | 8:69,020,510 | A/G | — | uncertain significance |
| rs2536623970 | 8:69,020,537 | A/T | — | uncertain significance |
| rs1478155605 | 8:69,020,549 | A/G | — | uncertain significance |
| rs769058397 | 8:69,020,550 | C/G | — | uncertain significance |
| rs61753700 | 8:69,020,558 | C/T | — | likely benign |
| rs1396223800 | 8:69,021,670 | G/T | — | likely benign |
| rs144239369 | 8:69,021,683 | A/G | — | uncertain significance |
| rs764084929 | 8:69,021,687 | T/A | — | uncertain significance |
| rs146544818 | 8:69,021,777 | C/T | — | uncertain significance |
| rs762274848 | 8:69,021,804 | G/A | — | uncertain significance |
| rs752339694 | 8:69,027,989 | C/T | — | uncertain significance |
| rs763654619 | 8:69,028,001 | A/G | — | uncertain significance |
| rs775893443 | 8:69,028,026 | G/A | — | uncertain significance |
| rs1810645223 | 8:69,028,062 | A/G | — | uncertain significance |
| rs184339505 | 8:69,028,162 | T/C | — | likely benign |
| rs778089198 | 8:69,030,813 | G/A | — | likely pathogenic |
| rs1810706351 | 8:69,030,846 | A/G | — | uncertain significance |
| rs1225693174 | 8:69,031,686 | T/A | — | uncertain significance |
| rs2536642242 | 8:69,032,476 | G/A | — | uncertain significance |
| rs2536642249 | 8:69,032,479 | T/A | — | uncertain significance |
| rs768758077 | 8:69,032,495 | A/G | — | uncertain significance |
| rs964579317 | 8:69,033,203 | C/T | — | uncertain significance |
| rs61753702 | 8:69,033,212 | A/G | — | benign |
| rs143386950 | 8:69,033,248 | C/T | — | uncertain significance |
| rs114811202 | 8:69,033,249 | G/A | — | benign |
| rs1389691066 | 8:69,033,258 | C/A | — | uncertain significance |
| rs565195590 | 8:69,046,296 | A/G | — | uncertain significance |
| rs1430480261 | 8:69,046,308 | C/T | — | uncertain significance |
| rs3793379 | 8:69,046,409 | G/A | — | benign |
| rs78101420 | 8:69,046,419 | A/T | — | likely benign |
| rs140035238 | 8:69,046,463 | G/A | — | likely benign |
| rs1227748963 | 8:69,050,695 | G/T | — | uncertain significance |
Showing 100 of 118 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.