PLCD3
phospholipase C delta 3
Summary
This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17684944 | 17:43,187,141 | T/A | — | — |
| rs375345131 | 17:43,190,036 | G/A | — | uncertain significance |
| rs2509354547 | 17:43,190,279 | T/C | — | uncertain significance |
| rs2509354723 | 17:43,190,333 | G/A | — | uncertain significance |
| rs1213952984 | 17:43,190,534 | G/A | — | uncertain significance |
| rs376502191 | 17:43,190,545 | G/C | — | uncertain significance |
| rs1481837647 | 17:43,192,531 | T/C | — | uncertain significance |
| rs199969953 | 17:43,192,556 | C/T | — | uncertain significance |
| rs751894420 | 17:43,192,563 | C/T | — | uncertain significance |
| rs750708676 | 17:43,192,586 | G/A | — | uncertain significance |
| rs1034442739 | 17:43,192,716 | G/A | — | uncertain significance |
| rs755003328 | 17:43,192,779 | G/A | — | uncertain significance |
| rs370582024 | 17:43,192,794 | G/A | — | uncertain significance |
| rs201248922 | 17:43,192,808 | C/T | — | uncertain significance |
| rs766216648 | 17:43,194,082 | G/A | — | uncertain significance |
| rs1344405340 | 17:43,195,381 | C/T | — | uncertain significance |
| rs2509365738 | 17:43,195,406 | A/C | — | uncertain significance |
| rs754459321 | 17:43,195,485 | C/T | — | uncertain significance |
| rs905331149 | 17:43,195,682 | G/C | — | uncertain significance |
| rs376384500 | 17:43,195,689 | C/T | — | uncertain significance |
| rs763217999 | 17:43,195,761 | C/T | — | uncertain significance |
| rs770532464 | 17:43,195,810 | C/A | — | uncertain significance |
| rs3744760 | 17:43,195,981 | T/A | — | — |
| rs542022368 | 17:43,196,278 | G/A | — | uncertain significance |
| rs955877479 | 17:43,196,341 | T/C | — | uncertain significance |
| rs769937396 | 17:43,196,385 | C/T | — | uncertain significance |
| rs762317335 | 17:43,197,738 | A/G | — | uncertain significance |
| rs1476855994 | 17:43,198,320 | G/C | — | uncertain significance |
| rs2509373788 | 17:43,198,368 | A/T | — | uncertain significance |
| rs1234493300 | 17:43,198,428 | G/A | — | uncertain significance |
| rs765674814 | 17:43,198,471 | G/T | — | uncertain significance |
| rs369720808 | 17:43,198,623 | C/G | — | uncertain significance |
| rs1200174880 | 17:43,198,655 | C/T | — | uncertain significance |
| rs561069970 | 17:43,198,656 | G/C | — | uncertain significance |
| rs778883129 | 17:43,198,713 | C/T | — | uncertain significance |
| rs752349706 | 17:43,198,719 | C/A | — | uncertain significance |
| rs191650093 | 17:43,200,979 | G/A | regulatory region variant | — |
| rs117873694 | 17:43,205,263 | C/G | — | — |
| rs138291949 | 17:43,206,154 | A/C | upstream gene variant | — |
| rs2509400395 | 17:43,209,616 | C/T | — | uncertain significance |
| rs748538131 | 17:43,209,665 | G/T | — | uncertain significance |
| rs747234783 | 17:43,209,674 | G/A | — | uncertain significance |
| rs937017799 | 17:43,209,684 | G/C | — | uncertain significance |
| rs1438016332 | 17:43,209,722 | G/A | — | uncertain significance |
| rs2509402085 | 17:43,209,731 | G/A | — | uncertain significance |
| rs1454257043 | 17:43,209,747 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.