PRKD2
protein kinase D2
Summary
The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs753177508 | 19:47,177,796 | C/T | — | uncertain significance |
| rs756527845 | 19:47,177,797 | G/A | — | uncertain significance |
| rs921682772 | 19:47,177,833 | G/A | — | uncertain significance |
| rs2513715237 | 19:47,177,923 | T/C | — | uncertain significance |
| rs1322375437 | 19:47,177,929 | G/A | — | uncertain significance |
| rs752652778 | 19:47,178,353 | C/T | — | likely benign |
| rs1555825242 | 19:47,178,360 | T/C | — | uncertain significance |
| rs2513717522 | 19:47,178,372 | A/G | — | uncertain significance |
| rs2053244633 | 19:47,181,658 | G/A | — | uncertain significance |
| rs1270405405 | 19:47,181,703 | T/C | — | uncertain significance |
| rs1208685921 | 19:47,181,800 | A/T | — | uncertain significance |
| rs926442685 | 19:47,181,888 | G/C | — | uncertain significance |
| rs200803465 | 19:47,191,696 | A/T | — | — |
| rs756439784 | 19:47,192,831 | C/T | — | uncertain significance |
| rs75185364 | 19:47,192,941 | G/C | — | benign |
| rs761081110 | 19:47,192,948 | C/T | — | uncertain significance |
| rs1381798248 | 19:47,195,230 | A/G | — | uncertain significance |
| rs772278023 | 19:47,195,236 | G/A | — | uncertain significance |
| rs757860622 | 19:47,197,215 | C/T | — | uncertain significance |
| rs140899472 | 19:47,197,228 | C/T | — | likely benign |
| rs80021620 | 19:47,197,230 | C/G | — | benign |
| rs902275668 | 19:47,197,290 | T/C | — | uncertain significance |
| rs1245519029 | 19:47,197,311 | C/A | — | uncertain significance |
| rs1172573215 | 19:47,197,320 | T/C | — | uncertain significance |
| rs187308910 | 19:47,197,329 | G/A | — | uncertain significance |
| rs768462170 | 19:47,197,365 | G/A | — | uncertain significance |
| rs114751214 | 19:47,197,399 | C/T | — | benign |
| rs2053583015 | 19:47,201,066 | A/G | — | uncertain significance |
| rs2053624723 | 19:47,204,081 | C/T | — | uncertain significance |
| rs10402397 | 19:47,204,162 | C/T | — | uncertain significance |
| rs773190037 | 19:47,204,331 | C/T | — | uncertain significance |
| rs74510632 | 19:47,204,341 | G/A | — | benign |
| rs11083846 | 19:47,207,654 | G/A | splice region variant | benign |
| rs2053683381 | 19:47,207,757 | C/T | — | uncertain significance |
| rs144404837 | 19:47,207,846 | G/A | — | likely benign |
| rs776989283 | 19:47,207,847 | C/T | — | uncertain significance |
| rs2513793502 | 19:47,207,901 | C/T | — | uncertain significance |
| rs425105 | 19:47,208,481 | T/C | downstream gene variant | — |
| rs1644350 | 19:47,214,996 | T/A | upstream gene variant | — |
| rs1405428090 | 19:47,217,239 | T/C | — | uncertain significance |
| rs2053878283 | 19:47,219,389 | T/C | — | uncertain significance |
| rs779561959 | 19:47,219,522 | G/A | — | uncertain significance |
| rs776148897 | 19:47,219,534 | G/A | — | uncertain significance |
| rs770253505 | 19:47,219,542 | T/G | — | uncertain significance |
| rs759742456 | 19:47,219,566 | G/A | — | uncertain significance |
| rs752789164 | 19:47,219,575 | C/A | — | uncertain significance |
| rs2053881145 | 19:47,219,582 | C/G | — | uncertain significance |
| rs758265254 | 19:47,219,587 | G/A | — | uncertain significance |
| rs313839 | 19:47,221,557 | C/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.