MAP2K6
mitogen-activated protein kinase kinase 6
Summary
This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs707247 | 17:67,426,612 | A/T | regulatory region variant | — |
| rs817565 | 17:67,432,385 | T/G | intron variant | — |
| rs864200 | 17:67,432,974 | A/G | — | — |
| rs534250307 | 17:67,482,441 | A/G | — | — |
| rs2715819 | 17:67,493,694 | C/T | intron variant | — |
| rs2716213 | 17:67,497,563 | T/C | — | — |
| rs529602401 | 17:67,501,986 | A/G | — | uncertain significance |
| rs2521349 | 17:67,503,501 | G/A | intron variant | — |
| rs200064105 | 17:67,513,674 | A/G | — | uncertain significance |
| rs373776681 | 17:67,516,474 | A/G | — | uncertain significance |
| rs769915246 | 17:67,519,675 | C/G | — | uncertain significance |
| rs763219277 | 17:67,519,687 | C/A | — | uncertain significance |
| rs146595343 | 17:67,522,730 | G/A | — | uncertain significance |
| rs772746071 | 17:67,522,789 | C/T | — | uncertain significance |
| rs2716192 | 17:67,532,016 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.