PLD2
phospholipase D2
Summary
The protein encoded by this gene catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. The activity of the encoded enzyme is enhanced by phosphatidylinositol 4,5-bisphosphate and ADP-ribosylation factor-1. This protein localizes to the peripheral membrane and may be involved in cytoskeletal organization, cell cycle control, transcriptional regulation, and/or regulated secretion. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
Known Variants76 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1254286946 | 17:4,711,088 | C/G | — | uncertain significance |
| rs2507541388 | 17:4,711,090 | T/C | — | uncertain significance |
| rs1425146413 | 17:4,711,116 | T/G | — | uncertain significance |
| rs1404278136 | 17:4,711,138 | C/T | — | uncertain significance |
| rs145402498 | 17:4,711,308 | T/A | — | uncertain significance |
| rs369688232 | 17:4,711,579 | G/A | — | uncertain significance |
| rs540125550 | 17:4,711,596 | C/T | — | uncertain significance |
| rs751900808 | 17:4,712,429 | G/T | — | uncertain significance |
| rs781597197 | 17:4,712,433 | A/G | — | uncertain significance |
| rs748674984 | 17:4,712,435 | A/G | — | uncertain significance |
| rs141836960 | 17:4,712,456 | C/T | — | uncertain significance |
| rs2286672 | 17:4,712,617 | C/T | missense variant | — |
| rs138074240 | 17:4,712,641 | C/T | — | uncertain significance |
| rs775338108 | 17:4,712,794 | T/C | — | uncertain significance |
| rs368249657 | 17:4,712,837 | G/T | — | uncertain significance |
| rs201828401 | 17:4,712,870 | C/T | upstream gene variant | — |
| rs139869509 | 17:4,713,048 | G/A | — | uncertain significance |
| rs370830303 | 17:4,713,285 | C/T | — | uncertain significance |
| rs139166795 | 17:4,713,296 | C/T | — | benign |
| rs200094300 | 17:4,713,311 | G/A | — | uncertain significance |
| rs2507551680 | 17:4,713,314 | A/G | — | uncertain significance |
| rs554386438 | 17:4,714,134 | C/T | — | uncertain significance |
| rs760033223 | 17:4,714,170 | G/T | — | uncertain significance |
| rs752760973 | 17:4,714,224 | C/T | — | uncertain significance |
| rs147737574 | 17:4,714,225 | G/A | missense variant | benign |
| rs147917834 | 17:4,714,244 | G/A | — | likely benign |
| rs760975506 | 17:4,717,941 | G/A | — | likely benign |
| rs372533526 | 17:4,718,792 | A/C | — | uncertain significance |
| rs201836893 | 17:4,719,114 | T/C | — | uncertain significance |
| rs756122541 | 17:4,719,165 | G/A | — | uncertain significance |
| rs779836681 | 17:4,719,215 | T/A | — | uncertain significance |
| rs1906924928 | 17:4,719,222 | C/T | — | uncertain significance |
| rs200699572 | 17:4,719,925 | C/G | — | uncertain significance |
| rs115426183 | 17:4,719,927 | C/T | — | likely benign |
| rs775854559 | 17:4,719,946 | C/T | — | uncertain significance |
| rs769157537 | 17:4,719,948 | C/T | — | uncertain significance |
| rs750641014 | 17:4,719,966 | C/G | — | uncertain significance |
| rs774226127 | 17:4,720,287 | C/T | — | likely benign |
| rs138719274 | 17:4,720,288 | G/A | — | uncertain significance |
| rs386352350 | 17:4,720,306 | C/T | — | uncertain significance |
| rs146224113 | 17:4,720,307 | G/A | — | benign |
| rs376037007 | 17:4,720,333 | C/T | — | uncertain significance |
| rs141994397 | 17:4,720,435 | C/T | — | benign |
| rs137971062 | 17:4,720,444 | A/G | — | likely benign |
| rs750564597 | 17:4,720,448 | A/G | — | uncertain significance |
| rs763604161 | 17:4,720,502 | C/T | — | uncertain significance |
| rs777092300 | 17:4,720,528 | C/A | — | uncertain significance |
| rs750899742 | 17:4,720,532 | G/A | — | uncertain significance |
| rs371269918 | 17:4,720,549 | G/A | — | uncertain significance |
| rs369422714 | 17:4,721,367 | C/T | — | uncertain significance |
| rs147390677 | 17:4,721,780 | C/T | — | benign |
| rs199553650 | 17:4,721,806 | G/T | — | uncertain significance |
| rs749543174 | 17:4,721,845 | G/A | — | uncertain significance |
| rs747873909 | 17:4,722,079 | C/T | — | uncertain significance |
| rs527376457 | 17:4,722,394 | G/A | — | uncertain significance |
| rs760311006 | 17:4,722,398 | C/G | — | uncertain significance |
| rs201665984 | 17:4,722,420 | C/T | — | uncertain significance |
| rs776900946 | 17:4,722,454 | C/T | — | uncertain significance |
| rs145678364 | 17:4,722,468 | A/G | — | uncertain significance |
| rs781767395 | 17:4,722,745 | G/A | — | uncertain significance |
| rs767163752 | 17:4,722,763 | G/A | — | uncertain significance |
| rs752219225 | 17:4,722,765 | G/T | — | uncertain significance |
| rs376639390 | 17:4,722,780 | G/A | — | uncertain significance |
| rs759554907 | 17:4,722,811 | C/G | — | uncertain significance |
| rs781198740 | 17:4,722,844 | G/C | — | uncertain significance |
| rs774247595 | 17:4,722,862 | G/A | — | uncertain significance |
| rs3764897 | 17:4,722,876 | G/A | missense variant | — |
| rs1907708382 | 17:4,725,167 | G/C | — | uncertain significance |
| rs114652175 | 17:4,725,937 | C/T | — | benign |
| rs547370593 | 17:4,725,975 | G/A | — | uncertain significance |
| rs764977005 | 17:4,725,998 | G/A | — | uncertain significance |
| rs201213709 | 17:4,726,014 | C/T | — | uncertain significance |
| rs2507598163 | 17:4,726,020 | G/C | — | uncertain significance |
| rs201183579 | 17:4,726,026 | C/G | — | uncertain significance |
| rs2507598577 | 17:4,726,119 | G/A | — | uncertain significance |
| rs764878216 | 17:4,726,139 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.