MAPKAPK5
MAPK activated protein kinase 5
Summary
The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2068752791 | 12:112,280,547 | G/A | — | uncertain significance |
| rs2542390741 | 12:112,280,554 | A/G | — | uncertain significance |
| rs377746987 | 12:112,280,568 | A/G | — | uncertain significance |
| rs60661425 | 12:112,288,827 | C/T | intron variant | — |
| rs769623925 | 12:112,293,572 | A/G | — | — |
| rs79192011 | 12:112,296,212 | C/T | intron variant | — |
| rs201672082 | 12:112,303,988 | C/T | — | uncertain significance |
| rs2069606109 | 12:112,304,021 | A/C | — | uncertain significance |
| rs1012399660 | 12:112,306,592 | G/T | — | pathogenic |
| rs761251796 | 12:112,308,091 | G/A | — | likely benign |
| rs1282723240 | 12:112,308,126 | C/T | — | uncertain significance |
| rs371243208 | 12:112,308,906 | G/C | — | uncertain significance |
| rs35662477 | 12:112,313,208 | A/T | downstream gene variant | — |
| rs947286159 | 12:112,318,261 | C/T | — | uncertain significance |
| rs1049589744 | 12:112,318,288 | C/A | — | uncertain significance |
| rs751526420 | 12:112,318,309 | C/T | — | uncertain significance |
| rs1372322864 | 12:112,318,312 | C/T | — | uncertain significance |
| rs754609169 | 12:112,323,833 | T/C | — | uncertain significance |
| rs16941717 | 12:112,325,766 | A/T | — | — |
| rs1259860566 | 12:112,326,327 | A/C | — | uncertain significance |
| rs374501499 | 12:112,326,339 | C/G | — | uncertain significance |
| rs1328444434 | 12:112,326,738 | G/A | — | uncertain significance |
| rs751979756 | 12:112,326,768 | C/T | — | pathogenic |
| rs2542533195 | 12:112,327,930 | C/T | — | pathogenic |
| rs11066065 | 12:112,329,287 | C/G | intron variant | — |
| rs199636436 | 12:112,330,773 | C/T | — | uncertain significance |
| rs773696015 | 12:112,330,854 | G/A | — | uncertain significance |
| rs12231873 | 12:112,331,915 | C/T | downstream gene variant | — |
| rs146730870 | 12:112,332,996 | G/A | downstream gene variant | — |
| rs78069066 | 12:112,337,924 | G/A | coding sequence variant | — |
| rs11066074 | 12:112,340,283 | G/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.