SPHK2
sphingosine kinase 2
Summary
This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs574803046 | 19:49,123,781 | C/A | — | uncertain significance |
| rs1974359103 | 19:49,123,785 | T/C | — | uncertain significance |
| rs386243 | 19:49,127,490 | C/T | regulatory region variant | — |
| rs3760811 | 19:49,128,670 | G/C | downstream gene variant | — |
| rs532584390 | 19:49,129,168 | C/T | — | likely benign |
| rs530218838 | 19:49,129,185 | G/C | — | uncertain significance |
| rs761395432 | 19:49,129,233 | C/T | — | uncertain significance |
| rs45457791 | 19:49,129,254 | C/T | — | uncertain significance |
| rs752828820 | 19:49,129,292 | G/A | — | uncertain significance |
| rs1461755986 | 19:49,129,298 | C/T | — | uncertain significance |
| rs201012558 | 19:49,129,317 | C/T | — | uncertain significance |
| rs764301338 | 19:49,129,320 | C/T | — | uncertain significance |
| rs144465202 | 19:49,129,334 | A/C | — | uncertain significance |
| rs148710464 | 19:49,129,341 | G/A | — | uncertain significance |
| rs151257086 | 19:49,129,357 | T/G | — | likely benign |
| rs538214471 | 19:49,129,370 | C/T | — | uncertain significance |
| rs770765456 | 19:49,129,371 | G/A | — | uncertain significance |
| rs772114663 | 19:49,129,385 | C/G | — | uncertain significance |
| rs998107683 | 19:49,129,400 | T/A | — | uncertain significance |
| rs770201930 | 19:49,129,419 | G/A | — | uncertain significance |
| rs1342238256 | 19:49,129,425 | G/A | — | uncertain significance |
| rs201032744 | 19:49,129,494 | G/A | — | uncertain significance |
| rs778430152 | 19:49,129,529 | G/T | — | uncertain significance |
| rs758285481 | 19:49,129,538 | G/A | — | uncertain significance |
| rs149396607 | 19:49,129,553 | G/A | — | benign |
| rs2513881665 | 19:49,129,560 | A/C | — | uncertain significance |
| rs758081327 | 19:49,129,610 | G/A | — | uncertain significance |
| rs754716201 | 19:49,130,973 | G/A | — | uncertain significance |
| rs756031602 | 19:49,130,982 | G/A | — | uncertain significance |
| rs758687505 | 19:49,130,995 | G/T | — | uncertain significance |
| rs747199390 | 19:49,131,015 | G/A | — | uncertain significance |
| rs771682478 | 19:49,131,298 | C/T | — | uncertain significance |
| rs746600744 | 19:49,131,305 | G/C | — | likely benign |
| rs116785119 | 19:49,131,317 | G/T | — | benign |
| rs1207217908 | 19:49,131,318 | C/T | — | uncertain significance |
| rs767665089 | 19:49,131,428 | G/A | — | uncertain significance |
| rs375999606 | 19:49,131,473 | G/A | — | uncertain significance |
| rs376253681 | 19:49,131,526 | G/C | — | uncertain significance |
| rs1185013887 | 19:49,131,949 | C/T | — | uncertain significance |
| rs2513889583 | 19:49,132,042 | G/T | — | uncertain significance |
| rs747521041 | 19:49,132,045 | C/T | — | uncertain significance |
| rs566050189 | 19:49,132,048 | G/A | — | uncertain significance |
| rs369266194 | 19:49,132,164 | G/A | — | uncertain significance |
| rs137907646 | 19:49,132,205 | C/T | — | benign |
| rs2513890161 | 19:49,132,284 | C/T | — | uncertain significance |
| rs768047205 | 19:49,132,291 | C/T | — | uncertain significance |
| rs370772383 | 19:49,132,310 | C/T | — | likely benign |
| rs745582389 | 19:49,132,315 | A/T | — | uncertain significance |
| rs114581332 | 19:49,132,376 | G/A | — | likely benign |
| rs1288026761 | 19:49,132,401 | C/G | — | uncertain significance |
| rs11544356 | 19:49,132,465 | C/G | — | uncertain significance |
| rs561900945 | 19:49,132,531 | G/C | — | uncertain significance |
| rs529112771 | 19:49,132,534 | C/T | — | uncertain significance |
| rs369764720 | 19:49,132,549 | C/T | — | uncertain significance |
| rs1399792753 | 19:49,132,573 | C/T | — | uncertain significance |
| rs139877170 | 19:49,132,575 | C/T | — | likely benign |
| rs145253804 | 19:49,132,581 | G/T | — | benign |
| rs766986693 | 19:49,132,590 | G/C | — | uncertain significance |
| rs201378907 | 19:49,132,605 | G/T | — | uncertain significance |
| rs151205532 | 19:49,132,655 | C/G | — | likely benign |
| rs753481798 | 19:49,132,699 | C/T | — | uncertain significance |
| rs758329786 | 19:49,132,725 | G/C | — | uncertain significance |
| rs2513891891 | 19:49,132,748 | C/T | — | likely benign |
| rs137862001 | 19:49,132,776 | G/C | — | uncertain significance |
| rs2513892622 | 19:49,132,914 | G/A | — | uncertain significance |
| rs2513892785 | 19:49,132,962 | G/A | — | uncertain significance |
| rs1041593491 | 19:49,132,969 | T/C | — | uncertain significance |
| rs76913135 | 19:49,133,026 | C/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.