MAP2K7
mitogen-activated protein kinase kinase 7
Summary
The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1433064449 | 19:7,968,864 | G/T | — | uncertain significance |
| rs62126698 | 19:7,971,854 | C/T | downstream gene variant | — |
| rs748767169 | 19:7,974,670 | G/T | — | uncertain significance |
| rs745585391 | 19:7,974,679 | C/T | — | uncertain significance |
| rs1044083059 | 19:7,974,715 | C/T | — | uncertain significance |
| rs1599625307 | 19:7,974,766 | C/T | — | uncertain significance |
| rs766635456 | 19:7,974,768 | C/T | — | uncertain significance |
| rs28395773 | 19:7,975,204 | C/T | — | benign |
| rs749648216 | 19:7,975,229 | C/T | — | uncertain significance |
| rs771779482 | 19:7,975,238 | G/A | — | uncertain significance |
| rs199553372 | 19:7,975,456 | A/G | — | uncertain significance |
| rs35139435 | 19:7,975,619 | C/T | — | benign |
| rs751828868 | 19:7,975,639 | G/A | — | uncertain significance |
| rs117765980 | 19:7,975,658 | C/A | — | benign |
| rs745624779 | 19:7,975,662 | C/T | — | uncertain significance |
| rs868265912 | 19:7,975,663 | G/A | — | uncertain significance |
| rs1555701191 | 19:7,975,941 | T/C | — | other |
| rs913866951 | 19:7,975,950 | G/A | — | uncertain significance |
| rs372642511 | 19:7,975,984 | C/T | — | benign |
| rs77549726 | 19:7,976,020 | C/T | — | benign |
| rs200132456 | 19:7,976,054 | G/C | — | benign |
| rs10412007 | 19:7,976,116 | T/C | — | benign |
| rs200061322 | 19:7,976,126 | C/G | — | likely benign |
| rs56358830 | 19:7,976,127 | C/G | — | benign |
| rs2512356417 | 19:7,976,207 | A/G | — | uncertain significance |
| rs190911905 | 19:7,976,472 | C/T | — | benign |
| rs1171768843 | 19:7,977,030 | C/G | — | likely benign |
| rs2512358483 | 19:7,977,068 | A/G | — | uncertain significance |
| rs2512359163 | 19:7,977,258 | C/T | — | uncertain significance |
| rs201101315 | 19:7,977,268 | G/T | — | benign |
| rs556127943 | 19:7,977,270 | G/A | — | uncertain significance |
| rs760564022 | 19:7,977,288 | G/T | — | uncertain significance |
| rs11669203 | 19:7,979,801 | G/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.