MAPK7
mitogen-activated protein kinase 7
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 specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3866958 | 17:19,281,006 | A/C | regulatory region variant | benign |
| rs546912846 | 17:19,282,305 | C/T | — | uncertain significance |
| rs371649354 | 17:19,283,152 | A/G | — | uncertain significance |
| rs2544125056 | 17:19,283,224 | T/C | — | uncertain significance |
| rs369748158 | 17:19,283,235 | G/A | — | uncertain significance |
| rs748679283 | 17:19,284,000 | C/T | — | uncertain significance |
| rs2544131919 | 17:19,284,172 | T/C | — | uncertain significance |
| rs375465225 | 17:19,284,262 | C/G | — | uncertain significance |
| rs2544133158 | 17:19,284,316 | A/G | — | uncertain significance |
| rs745908158 | 17:19,284,375 | G/A | — | uncertain significance |
| rs368401668 | 17:19,284,384 | G/T | — | uncertain significance |
| rs762099766 | 17:19,284,406 | G/A | — | uncertain significance |
| rs147296805 | 17:19,284,408 | G/A | — | pathogenic |
| rs775129236 | 17:19,284,499 | G/A | — | uncertain significance |
| rs368014787 | 17:19,284,508 | G/A | — | uncertain significance |
| rs564709382 | 17:19,284,522 | G/A | — | uncertain significance |
| rs2544135855 | 17:19,284,594 | G/C | — | uncertain significance |
| rs767214222 | 17:19,284,601 | C/T | — | uncertain significance |
| rs752892599 | 17:19,284,627 | C/T | — | uncertain significance |
| rs371955456 | 17:19,284,628 | G/A | — | uncertain significance |
| rs994526389 | 17:19,284,727 | A/G | — | uncertain significance |
| rs140404849 | 17:19,284,735 | C/T | synonymous variant | — |
| rs2544136815 | 17:19,284,741 | C/T | — | uncertain significance |
| rs201185415 | 17:19,284,751 | G/A | — | uncertain significance |
| rs2544137148 | 17:19,284,783 | A/G | — | uncertain significance |
| rs1912662243 | 17:19,284,823 | C/T | — | uncertain significance |
| rs1434635741 | 17:19,284,873 | C/G | — | uncertain significance |
| rs137998051 | 17:19,284,899 | C/T | — | likely benign |
| rs1428384185 | 17:19,284,963 | G/T | — | uncertain significance |
| rs192160574 | 17:19,285,106 | C/T | — | uncertain significance |
| rs748090158 | 17:19,285,118 | C/T | — | uncertain significance |
| rs1346827418 | 17:19,285,148 | A/G | — | uncertain significance |
| rs1234097307 | 17:19,285,154 | G/A | — | uncertain significance |
| rs754719194 | 17:19,285,220 | G/A | — | uncertain significance |
| rs1370617055 | 17:19,285,243 | C/T | — | uncertain significance |
| rs144954037 | 17:19,285,267 | C/T | — | likely benign |
| rs377634607 | 17:19,285,351 | G/A | — | uncertain significance |
| rs971260506 | 17:19,285,361 | C/G | — | uncertain significance |
| rs758163506 | 17:19,285,376 | C/T | — | pathogenic |
| rs149245489 | 17:19,285,463 | C/T | — | uncertain significance |
| rs1484759429 | 17:19,285,471 | C/A | — | uncertain significance |
| rs201095735 | 17:19,285,508 | C/T | — | uncertain significance |
| rs1555613564 | 17:19,285,559 | C/T | — | pathogenic |
| rs144078337 | 17:19,285,573 | G/A | — | uncertain significance |
| rs1473634693 | 17:19,285,592 | C/T | — | uncertain significance |
| rs200536560 | 17:19,285,598 | C/T | — | uncertain significance |
| rs201426673 | 17:19,285,621 | C/T | — | uncertain significance |
| rs372317367 | 17:19,285,649 | C/T | — | uncertain significance |
| rs201210264 | 17:19,285,715 | C/T | — | uncertain significance |
| rs1212849334 | 17:19,286,151 | T/A | — | uncertain significance |
| rs2544151082 | 17:19,286,243 | G/A | — | uncertain significance |
| rs541783142 | 17:19,286,483 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.