MAP2K5
mitogen-activated protein kinase kinase 5
Summary
The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7172582 | 15:67,834,556 | T/C | coding sequence variant | — |
| rs3743353 | 15:67,835,370 | T/C | regulatory region variant | — |
| rs3743354 | 15:67,835,511 | T/C | regulatory region variant | — |
| rs144896265 | 15:67,835,693 | G/T | — | uncertain significance |
| rs146184165 | 15:67,842,427 | C/T | — | benign |
| rs750663318 | 15:67,855,634 | T/G | — | uncertain significance |
| rs552679065 | 15:67,873,134 | A/G | — | uncertain significance |
| rs772116049 | 15:67,879,193 | C/T | — | uncertain significance |
| rs368455000 | 15:67,885,301 | G/A | — | uncertain significance |
| rs35733169 | 15:67,890,453 | G/C | intron variant | — |
| rs11637027 | 15:67,937,755 | G/T | intron variant | — |
| rs28580436 | 15:67,938,561 | A/G | — | benign |
| rs201636416 | 15:67,938,741 | A/G | — | uncertain significance |
| rs763833942 | 15:67,938,769 | T/C | — | uncertain significance |
| rs2542974498 | 15:67,950,909 | A/G | — | uncertain significance |
| rs2542974694 | 15:67,950,951 | C/T | — | uncertain significance |
| rs58648944 | 15:67,965,102 | A/G | — | — |
| rs73425906 | 15:67,974,852 | C/T | intron variant | — |
| rs55966838 | 15:67,984,818 | T/C | — | benign |
| rs10153031 | 15:67,987,293 | T/G | intron variant | — |
| rs540623937 | 15:67,995,739 | T/C | — | uncertain significance |
| rs66818657 | 15:68,000,491 | A/G | intron variant | — |
| rs3784699 | 15:68,007,591 | T/C | regulatory region variant | — |
| rs11630417 | 15:68,012,609 | T/C | intron variant | — |
| rs12914773 | 15:68,019,958 | G/A | intron variant | — |
| rs2543121670 | 15:68,020,284 | G/A | — | uncertain significance |
| rs12593813 | 15:68,036,852 | A/G | intron variant | — |
| rs11635424 | 15:68,037,578 | A/C | — | — |
| rs8028313 | 15:68,043,057 | C/T | — | — |
| rs884202 | 15:68,054,388 | G/A | intron variant | — |
| rs868036 | 15:68,055,013 | T/A | intron variant | — |
| rs4489954 | 15:68,072,075 | T/G | regulatory region variant | — |
| rs3784709 | 15:68,072,275 | C/T | regulatory region variant | — |
| rs77148098 | 15:68,075,698 | G/A | regulatory region variant | — |
| rs8025790 | 15:68,076,399 | G/T | intron variant | — |
| rs8025526 | 15:68,076,483 | A/C | — | — |
| rs8030456 | 15:68,076,856 | C/T | regulatory region variant | — |
| rs4776970 | 15:68,080,886 | A/G | — | — |
| rs4776375 | 15:68,085,555 | G/A | intron variant | — |
| rs2241423 | 15:68,086,838 | G/A | intron variant | — |
| rs2127163 | 15:68,090,842 | C/T | intron variant | — |
| rs1026732 | 15:68,095,085 | G/A | intron variant | — |
| rs762647820 | 15:68,099,047 | C/T | — | uncertain significance |
| rs2090817891 | 15:68,099,072 | A/G | — | uncertain significance |
| rs41305272 | 15:68,099,443 | C/T | 3 prime UTR variant | — |
| rs2278076 | 15:68,099,600 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.