MAPK10
mitogen-activated protein kinase 10
Summary
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system, and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1375872651 | 4:86,938,401 | G/A | — | uncertain significance |
| rs1578554988 | 4:86,938,455 | T/C | — | uncertain significance |
| rs181956061 | 4:86,938,483 | C/T | — | likely benign |
| rs193921096 | 4:86,938,505 | C/T | — | uncertain significance |
| rs778173279 | 4:86,950,346 | G/A | — | likely benign |
| rs200198724 | 4:86,950,379 | C/A | — | likely benign |
| rs13103861 | 4:86,952,590 | G/A | — | benign |
| rs3775182 | 4:86,979,583 | G/T | intron variant | — |
| rs2546377015 | 4:86,985,424 | C/T | — | uncertain significance |
| rs61747621 | 4:86,985,449 | G/A | — | benign |
| rs775333978 | 4:86,985,472 | C/T | — | uncertain significance |
| rs116053658 | 4:86,985,476 | G/A | — | benign |
| rs55663953 | 4:86,988,951 | C/T | — | benign |
| rs779714501 | 4:86,988,981 | G/C | — | likely benign |
| rs772285838 | 4:87,022,329 | T/C | — | likely benign |
| rs2546482716 | 4:87,023,105 | A/G | — | uncertain significance |
| rs1313496882 | 4:87,028,394 | C/T | — | likely benign |
| rs28760360 | 4:87,028,403 | G/A | — | likely benign |
| rs775995908 | 4:87,028,515 | T/C | — | likely benign |
| rs752986934 | 4:87,080,566 | T/G | — | uncertain significance |
| rs971142530 | 4:87,080,592 | T/A | — | uncertain significance |
| rs1582489589 | 4:87,115,531 | G/A | — | likely benign |
| rs141835386 | 4:87,115,534 | G/T | — | uncertain significance |
| rs1286031922 | 4:87,115,535 | T/C | — | uncertain significance |
| rs62305543 | 4:87,217,713 | T/C | intron variant | — |
| rs58538747 | 4:87,220,329 | C/T | — | — |
| rs17408832 | 4:87,222,696 | C/A | — | — |
| rs11726269 | 4:87,232,984 | A/G | intron variant | — |
| rs565838897 | 4:87,244,362 | A/T | — | — |
| rs2869430 | 4:87,256,993 | C/A | — | — |
| rs4693769 | 4:87,333,882 | G/A | intron variant | — |
| rs1012411239 | 4:87,378,636 | C/A | — | uncertain significance |
| rs561633325 | 4:87,424,745 | A/C | — | — |
| rs55660529 | 4:87,427,330 | A/T | intron variant | — |
| rs182928083 | 4:87,472,315 | G/C | intron variant | — |
| rs4478147 | 4:87,473,776 | G/C | — | — |
| rs12508626 | 4:87,514,712 | C/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.