MAPK9
mitogen-activated protein kinase 9
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 targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200458599 | 5:179,663,388 | C/G | — | uncertain significance |
| rs149127216 | 5:179,663,409 | G/A | — | uncertain significance |
| rs747278411 | 5:179,663,448 | G/A | — | uncertain significance |
| rs1258675846 | 5:179,663,460 | G/C | — | uncertain significance |
| rs531472225 | 5:179,663,478 | T/C | — | uncertain significance |
| rs1757353147 | 5:179,665,338 | G/T | — | likely benign |
| rs1157931756 | 5:179,669,583 | G/C | — | uncertain significance |
| rs758384332 | 5:179,674,909 | C/T | — | uncertain significance |
| rs775293436 | 5:179,676,033 | C/T | — | uncertain significance |
| rs4147385 | 5:179,677,517 | G/A | intron variant | — |
| rs778557326 | 5:179,688,707 | G/A | — | uncertain significance |
| rs113747850 | 5:179,710,663 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.