MAP3K8

mitogen-activated protein kinase kinase kinase 8

Summary

This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

Known Variants172 total

rsidPosition (GRCh37)AllelesClassClinVar
rs253853784210:30,727,872A/C—uncertain significance
rs137377275710:30,727,876C/T—likely benign
rs101675384510:30,727,881G/T—uncertain significance
rs75727338110:30,727,882C/A—uncertain significance
rs78099598710:30,727,887G/A—uncertain significance
rs183600326910:30,727,893A/G—uncertain significance
rs37212077210:30,727,909T/C—likely benign
rs77896523610:30,727,931A/C—uncertain significance
rs77212387010:30,727,936G/A—likely benign
rs77601470710:30,727,938C/T—uncertain significance
rs15057993810:30,727,949G/A—uncertain significance
rs76593479210:30,727,960A/G—likely benign
rs76714481810:30,727,970G/T—uncertain significance
rs77905845510:30,728,005A/G—likely benign
rs74588205610:30,728,008G/A—uncertain significance
rs147643548910:30,728,013T/A—uncertain significance
rs183600844310:30,728,022A/G—uncertain significance
rs7718674610:30,728,026T/C—benign
rs103623797710:30,728,027A/G—uncertain significance
rs15000184810:30,728,036G/A—uncertain significance
rs183600938110:30,728,041G/A—likely benign
rs11739620110:30,728,042C/T—likely benign
rs14672821210:30,728,043G/A—uncertain significance
rs75896618110:30,728,063A/G—uncertain significance
rs76719802510:30,728,067G/A—uncertain significance
rs5596270510:30,728,089A/G—likely benign
rs253853863010:30,728,094T/C—uncertain significance
rs104205810:30,728,101T/Csynonymous variantbenign
rs253853868510:30,728,107T/C—likely benign
rs14569670110:30,728,110G/A—likely benign
rs143528687310:30,728,135C/T—uncertain significance
rs253853873210:30,728,136A/G—uncertain significance
rs213278270210:30,728,144A/G—uncertain significance
rs93885356910:30,728,171C/G—uncertain significance
rs124009165010:30,728,201A/G—uncertain significance
rs88672447810:30,728,207C/T—uncertain significance
rs148219789510:30,728,208G/A—uncertain significance
rs183601663210:30,728,210T/G—likely benign
rs76912918110:30,728,217C/T—likely benign
rs74543273210:30,728,218G/A—likely benign
rs14429993510:30,728,222A/T—benign
rs57544597710:30,728,223G/A—likely benign
rs290710:30,728,250A/G—benign
rs30344710:30,728,464T/C—benign
rs30344610:30,728,489C/T—benign
rs135880512310:30,736,705T/C—likely benign
rs253855488810:30,736,720C/A—uncertain significance
rs183639150710:30,736,722C/A—likely benign
rs133091727210:30,736,725A/G—likely benign
rs75288609810:30,736,734T/C—likely benign
rs75632230410:30,736,740A/G—likely benign
rs11244193310:30,736,749C/T—likely benign
rs146216124610:30,736,756C/T—uncertain significance
rs37567313910:30,736,758C/G—likely benign
rs20189281910:30,736,792G/T—uncertain significance
rs20084323410:30,736,815C/T—likely benign
rs375144910:30,736,816G/A—uncertain significance
rs213280785510:30,736,839A/G—likely benign
rs117754008710:30,736,847T/C—uncertain significance
rs75427177710:30,736,853C/T—uncertain significance
rs129077541810:30,736,854G/A—likely benign
rs14366279410:30,736,869G/A—likely benign
rs137672749310:30,736,884T/C—uncertain significance
rs30342810:30,739,058G/A—benign
rs36982892610:30,739,177T/C—likely benign
rs130361108010:30,739,181T/C—likely benign
rs76080840810:30,739,201A/G—likely benign
rs253856024010:30,739,207G/A—likely benign
rs253856025010:30,739,212C/G—uncertain significance
rs37305777410:30,739,239G/A—uncertain significance
rs75072973310:30,739,244G/A—uncertain significance
rs76338061010:30,739,252C/T—likely benign
rs20164948710:30,739,255A/G—likely benign
rs77736997110:30,739,267C/T—likely benign
rs14265005610:30,739,269C/T—uncertain significance
rs14674979110:30,739,277T/A—uncertain significance
rs77197301010:30,739,279G/C—uncertain significance
rs56401314810:30,739,297C/G—likely benign
rs37729776010:30,739,312C/T—uncertain significance
rs76202343010:30,739,342G/A—likely benign
rs253856066210:30,739,349G/A—uncertain significance
rs76994400510:30,739,351A/G—likely benign
rs253856071910:30,739,369A/T—uncertain significance
rs92374835410:30,739,454T/C—uncertain significance
rs30342610:30,740,379A/G—benign
rs253856368210:30,740,570G/A—uncertain significance
rs76484324310:30,740,577T/C—likely benign
rs253856372310:30,740,584A/C—uncertain significance
rs120496925210:30,740,607G/A—likely benign
rs95446187410:30,740,626C/G—uncertain significance
rs37397774110:30,740,631G/A—uncertain significance
rs76620390810:30,740,634C/T—likely benign
rs75129998210:30,740,635G/A—uncertain significance
rs75496850010:30,740,658C/T—likely benign
rs74826859410:30,740,682G/A—likely benign
rs86762951410:30,740,687C/T—likely benign
rs128535749010:30,740,688A/G—likely benign
rs817702510:30,746,824C/T—benign
rs76593660810:30,747,002T/A—likely benign
rs139300121410:30,747,004C/G—likely benign

Showing 100 of 172 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.