MAP2K3

mitogen-activated protein kinase kinase 3

Summary

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]

Known Variants44 total

rsidPosition (GRCh37)AllelesClassClinVar
rs807615417:21,201,719T/Cbenign
rs14843592317:21,201,750A/Cbenign
rs7706653817:21,201,791C/Tlikely benign
rs3391121817:21,202,191C/Abenign
rs18794678017:21,202,228T/Cbenign
rs3604703517:21,202,237G/Cbenign
rs3410530117:21,203,893T/Cbenign
rs7331153917:21,203,907T/Clikely benign
rs6205767217:21,203,934G/Alikely benign
rs230587317:21,203,941G/Abenign
rs53030295517:21,203,946G/Cuncertain significance
rs6205767317:21,203,949C/Tlikely benign
rs3607676617:21,203,961G/Abenign
rs6205772117:21,205,460C/Tlikely benign
rs77248500517:21,205,528A/Guncertain significance
rs52976818117:21,205,553T/Cbenign
rs14139063117:21,205,561T/Clikely benign
rs374422217:21,206,440C/T
rs73610317:21,206,556C/Tbenign
rs13891725317:21,207,792A/Tlikely benign
rs14283754817:21,207,796T/Cbenign
rs7457590417:21,207,813T/Guncertain significance
rs14357505717:21,207,829C/Tbenign
rs5860946617:21,207,834C/Tbenign
rs13959428917:21,207,838G/Clikely benign
rs223043617:21,207,844C/Tlikely benign
rs14861200517:21,208,397G/Tbenign
rs165769517:21,208,413C/Tlikely benign
rs15061394217:21,208,417G/Alikely benign
rs143303647917:21,208,439T/Cuncertain significance
rs165769417:21,208,449G/Tbenign
rs1165005317:21,212,820G/A
rs990936217:21,215,204C/T
rs6205536317:21,215,446C/Tbenign
rs5593575717:21,215,483C/Tlikely benign
rs15133866717:21,215,498C/Gbenign
rs5573647417:21,215,537C/Alikely benign
rs5636973217:21,215,552C/Tlikely benign
rs3520613417:21,215,557G/Abenign
rs76895136417:21,215,587C/Tuncertain significance
rs165768817:21,216,846G/Clikely benign
rs11671546817:21,217,476C/Abenign
rs3575574317:21,217,496C/Tuncertain significance
rs236319817:21,217,513G/Abenign

Gene information from NCBI Gene. Variant classifications from ClinVar.