MAPKAPK3
MAPK activated protein kinase 3
Summary
This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
Known Variants222 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs368742045 | 3:50,655,003 | G/A | — | uncertain significance |
| rs766895982 | 3:50,655,006 | G/C | — | uncertain significance |
| rs1378637606 | 3:50,655,020 | G/A | — | likely benign |
| rs149349769 | 3:50,655,025 | G/A | — | uncertain significance |
| rs147044454 | 3:50,655,027 | G/T | — | uncertain significance |
| rs757165001 | 3:50,655,029 | C/T | — | likely benign |
| rs2032501970 | 3:50,655,030 | C/A | — | uncertain significance |
| rs1484098868 | 3:50,655,032 | T/C | — | likely benign |
| rs745672353 | 3:50,655,049 | C/T | — | uncertain significance |
| rs779772290 | 3:50,655,051 | C/A | — | uncertain significance |
| rs376982083 | 3:50,655,053 | C/G | — | likely benign |
| rs1286539544 | 3:50,655,054 | G/A | — | uncertain significance |
| rs2032503701 | 3:50,655,056 | C/G | — | likely benign |
| rs776254646 | 3:50,655,058 | G/A | — | uncertain significance |
| rs2032504182 | 3:50,655,064 | G/A | — | uncertain significance |
| rs2032504265 | 3:50,655,065 | C/T | — | likely benign |
| rs201487546 | 3:50,655,071 | C/T | — | benign |
| rs375412266 | 3:50,655,078 | C/G | — | conflicting classifications of pathogenicity |
| rs759957245 | 3:50,655,079 | C/G | — | uncertain significance |
| rs373642329 | 3:50,655,081 | G/T | — | uncertain significance |
| rs764208748 | 3:50,655,082 | G/C | — | uncertain significance |
| rs1027886642 | 3:50,655,085 | G/C | — | uncertain significance |
| rs757254886 | 3:50,655,086 | G/A | — | likely benign |
| rs2032506009 | 3:50,655,087 | C/T | — | uncertain significance |
| rs1456669605 | 3:50,655,090 | C/G | — | uncertain significance |
| rs2471665533 | 3:50,655,098 | C/G | — | likely benign |
| rs2471665536 | 3:50,655,099 | A/C | — | uncertain significance |
| rs368714447 | 3:50,655,100 | A/T | — | uncertain significance |
| rs1391053347 | 3:50,655,108 | G/T | — | uncertain significance |
| rs758219473 | 3:50,655,110 | A/G | — | likely benign |
| rs1229284740 | 3:50,655,119 | C/A | — | uncertain significance |
| rs1338275124 | 3:50,655,121 | A/C | — | uncertain significance |
| rs1202657189 | 3:50,655,134 | C/A | — | likely benign |
| rs2471665946 | 3:50,655,136 | A/C | — | uncertain significance |
| rs2107570186 | 3:50,655,137 | G/C | — | uncertain significance |
| rs1239435558 | 3:50,655,140 | G/A | — | likely benign |
| rs1485734849 | 3:50,655,148 | G/A | — | uncertain significance |
| rs1172916445 | 3:50,655,161 | C/A | — | uncertain significance |
| rs2032508951 | 3:50,655,169 | T/C | — | uncertain significance |
| rs35362731 | 3:50,655,190 | G/T | — | likely benign |
| rs750410127 | 3:50,655,192 | A/T | — | uncertain significance |
| rs1296010021 | 3:50,655,199 | A/G | — | uncertain significance |
| rs2471666131 | 3:50,655,215 | G/A | — | uncertain significance |
| rs779935731 | 3:50,655,223 | A/G | — | likely benign |
| rs751303152 | 3:50,655,225 | C/A | — | likely benign |
| rs3792323 | 3:50,660,331 | A/T | intron variant | — |
| rs185827463 | 3:50,670,825 | C/T | intron variant | — |
| rs751453467 | 3:50,677,786 | C/G | — | uncertain significance |
| rs1261780420 | 3:50,677,788 | C/A | — | likely benign |
| rs1283225219 | 3:50,677,801 | T/C | — | uncertain significance |
| rs767380329 | 3:50,677,802 | G/A | — | likely benign |
| rs141282634 | 3:50,677,804 | A/G | — | uncertain significance |
| rs1422921375 | 3:50,677,805 | T/A | — | uncertain significance |
| rs755805527 | 3:50,677,821 | C/T | — | uncertain significance |
| rs777383707 | 3:50,677,822 | G/A | — | uncertain significance |
| rs2033150698 | 3:50,677,833 | G/T | — | uncertain significance |
| rs1387729630 | 3:50,677,836 | C/T | — | uncertain significance |
| rs2033151576 | 3:50,677,855 | G/A | — | uncertain significance |
| rs539709580 | 3:50,677,856 | C/T | — | likely benign |
| rs143980632 | 3:50,677,857 | G/A | — | uncertain significance |
| rs776935311 | 3:50,677,877 | C/T | — | likely benign |
| rs2471697544 | 3:50,677,883 | T/G | — | uncertain significance |
| rs748422112 | 3:50,677,886 | G/A | — | likely benign |
| rs2107596227 | 3:50,677,889 | T/A | — | uncertain significance |
| rs769899324 | 3:50,677,896 | A/G | — | uncertain significance |
| rs867974734 | 3:50,677,898 | G/T | — | uncertain significance |
| rs773395153 | 3:50,677,902 | C/T | — | uncertain significance |
| rs2471697601 | 3:50,677,907 | C/T | — | uncertain significance |
| rs558117363 | 3:50,677,910 | G/T | — | uncertain significance |
| rs200955406 | 3:50,677,911 | C/T | — | uncertain significance |
| rs759497061 | 3:50,677,912 | G/A | — | uncertain significance |
| rs2471697630 | 3:50,677,915 | G/A | — | uncertain significance |
| rs1032039030 | 3:50,677,927 | T/C | — | uncertain significance |
| rs767468360 | 3:50,677,934 | A/G | — | likely benign |
| rs2471699274 | 3:50,679,121 | A/C | — | uncertain significance |
| rs376480526 | 3:50,679,153 | G/A | — | likely benign |
| rs770936440 | 3:50,679,154 | T/C | — | likely benign |
| rs1214442364 | 3:50,679,162 | C/T | — | uncertain significance |
| rs1290636677 | 3:50,679,168 | T/G | — | uncertain significance |
| rs775483656 | 3:50,679,172 | G/A | — | uncertain significance |
| rs763883941 | 3:50,679,176 | G/A | — | uncertain significance |
| rs753466591 | 3:50,679,180 | C/T | — | likely benign |
| rs761480203 | 3:50,679,181 | G/A | — | uncertain significance |
| rs2033181020 | 3:50,679,196 | G/A | — | uncertain significance |
| rs753132398 | 3:50,679,211 | A/G | — | likely benign |
| rs1033731175 | 3:50,679,212 | T/C | — | likely benign |
| rs2107598029 | 3:50,679,664 | C/T | — | likely benign |
| rs764869178 | 3:50,679,666 | C/T | — | likely benign |
| rs2107598036 | 3:50,679,670 | C/T | — | likely benign |
| rs2033191881 | 3:50,679,689 | G/A | — | uncertain significance |
| rs376020826 | 3:50,679,691 | A/T | — | likely benign |
| rs2471700352 | 3:50,679,695 | A/G | — | uncertain significance |
| rs765824190 | 3:50,679,701 | C/T | — | uncertain significance |
| rs754225374 | 3:50,679,702 | G/A | — | uncertain significance |
| rs757611175 | 3:50,679,708 | T/C | — | uncertain significance |
| rs75235403 | 3:50,679,730 | G/A | — | benign |
| rs2033194043 | 3:50,679,740 | A/G | — | uncertain significance |
| rs201931706 | 3:50,679,742 | C/T | — | likely benign |
| rs747984036 | 3:50,679,749 | C/T | — | uncertain significance |
| rs2107598203 | 3:50,679,751 | C/T | — | likely benign |
Showing 100 of 222 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.