MAPK14
mitogen-activated protein kinase 14
Summary
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs80028505 | 6:35,998,388 | C/T | intron variant | — |
| rs150335499 | 6:36,000,998 | G/A | intron variant | — |
| rs851023 | 6:36,006,220 | G/A | intron variant | — |
| rs200810274 | 6:36,027,118 | A/G | — | uncertain significance |
| rs536302572 | 6:36,034,279 | A/C | — | — |
| rs140445825 | 6:36,036,954 | C/G | intron variant | — |
| rs61212706 | 6:36,039,431 | G/T | intron variant | — |
| rs760536219 | 6:36,041,484 | A/G | — | uncertain significance |
| rs147950374 | 6:36,044,726 | A/G | intron variant | — |
| rs561682869 | 6:36,045,066 | G/A | — | — |
| rs146802157 | 6:36,064,713 | C/T | upstream gene variant | — |
| rs147479984 | 6:36,067,992 | G/A | — | uncertain significance |
| rs200280517 | 6:36,068,007 | C/G | — | uncertain significance |
| rs116144805 | 6:36,072,637 | A/C | intron variant | — |
| rs759715780 | 6:36,075,284 | A/G | — | likely benign |
| rs28763973 | 6:36,075,326 | C/T | — | benign |
| rs542518608 | 6:36,076,168 | G/A | — | uncertain significance |
| rs202086142 | 6:36,076,178 | T/G | — | uncertain significance |
| rs150111342 | 6:36,088,457 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.