PRR5
proline rich 5
Summary
This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1924103181 | 22:45,075,719 | T/C | — | uncertain significance |
| rs765335057 | 22:45,075,720 | C/T | — | uncertain significance |
| rs749207913 | 22:45,075,739 | G/A | — | uncertain significance |
| rs949114235 | 22:45,075,755 | G/T | — | uncertain significance |
| rs5764972 | 22:45,114,177 | C/T | intron variant | — |
| rs6006852 | 22:45,115,497 | G/T | — | — |
| rs28450358 | 22:45,122,513 | G/T | — | uncertain significance |
| rs371769405 | 22:45,127,648 | T/G | — | uncertain significance |
| rs202247021 | 22:45,127,649 | T/A | — | uncertain significance |
| rs267606269 | 22:45,127,672 | A/G | — | uncertain significance |
| rs142457314 | 22:45,128,158 | G/A | — | uncertain significance |
| rs1180390847 | 22:45,128,191 | A/G | — | uncertain significance |
| rs2518245646 | 22:45,128,192 | G/A | — | uncertain significance |
| rs572406576 | 22:45,128,210 | C/T | — | uncertain significance |
| rs757385339 | 22:45,128,219 | G/A | — | uncertain significance |
| rs760293496 | 22:45,128,230 | C/T | — | uncertain significance |
| rs758503843 | 22:45,128,239 | C/G | — | uncertain significance |
| rs774339869 | 22:45,128,264 | T/C | — | uncertain significance |
| rs377481820 | 22:45,130,928 | G/A | — | uncertain significance |
| rs763464271 | 22:45,132,669 | C/T | — | uncertain significance |
| rs753229319 | 22:45,132,712 | G/A | — | uncertain significance |
| rs780229778 | 22:45,132,743 | C/G | — | uncertain significance |
| rs771175008 | 22:45,132,762 | G/C | — | uncertain significance |
| rs373328428 | 22:45,132,783 | G/A | — | uncertain significance |
| rs56299305 | 22:45,132,831 | G/A | — | likely benign |
| rs770454822 | 22:45,132,864 | G/T | — | uncertain significance |
| rs765310412 | 22:45,132,895 | C/T | — | uncertain significance |
| rs770807880 | 22:45,132,919 | G/C | — | uncertain significance |
| rs753581449 | 22:45,132,969 | C/T | — | uncertain significance |
| rs141096517 | 22:45,132,985 | G/A | — | likely benign |
| rs1339138408 | 22:45,132,988 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.