MAPKAPK2
MAPK activated protein kinase 2
Summary
This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1402681700 | 1:206,858,625 | G/C | — | likely benign |
| rs1553425341 | 1:206,858,637 | G/C | — | likely benign |
| rs1672247473 | 1:206,858,665 | C/A | — | uncertain significance |
| rs573218643 | 1:206,858,672 | C/G | — | uncertain significance |
| rs140022471 | 1:206,858,772 | C/T | — | benign |
| rs4129024 | 1:206,868,245 | G/A | regulatory region variant | — |
| rs4548444 | 1:206,890,138 | A/T | — | — |
| rs11119390 | 1:206,901,382 | C/G | intron variant | — |
| rs375800332 | 1:206,902,103 | C/T | — | uncertain significance |
| rs782185154 | 1:206,902,107 | C/T | — | uncertain significance |
| rs1673811124 | 1:206,902,405 | C/T | — | uncertain significance |
| rs1376132455 | 1:206,902,415 | A/G | — | uncertain significance |
| rs45514798 | 1:206,902,471 | G/A | intron variant | — |
| rs531894220 | 1:206,903,335 | A/G | — | uncertain significance |
| rs140901506 | 1:206,903,357 | T/C | — | uncertain significance |
| rs368050217 | 1:206,903,368 | A/G | — | uncertain significance |
| rs375137265 | 1:206,904,095 | A/G | — | uncertain significance |
| rs782008886 | 1:206,904,512 | A/G | — | uncertain significance |
| rs141422074 | 1:206,904,516 | C/T | — | likely benign |
| rs782072138 | 1:206,904,554 | G/A | — | uncertain significance |
| rs142063401 | 1:206,904,578 | A/G | — | uncertain significance |
| rs782597489 | 1:206,905,024 | C/A | — | uncertain significance |
| rs782279440 | 1:206,905,050 | A/T | — | uncertain significance |
| rs142025224 | 1:206,905,223 | C/T | — | uncertain significance |
| rs55894011 | 1:206,905,941 | G/T | — | likely benign |
| rs2529682627 | 1:206,905,993 | C/G | — | uncertain significance |
| rs782678368 | 1:206,906,028 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.