MAP2K4

mitogen-activated protein kinase kinase 4

Summary

This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Known Variants20 total

rsidPosition (GRCh37)AllelesClassClinVar
rs382639217:11,922,904G/C——
rs380972817:11,923,164A/C——
rs116147182417:11,924,217G/T—uncertain significance
rs97989963617:11,924,219C/G—uncertain significance
rs95991195517:11,924,228G/A—uncertain significance
rs74907040817:11,924,246G/A—uncertain significance
rs97866816217:11,924,262C/T—uncertain significance
rs54878841517:11,924,270C/A—uncertain significance
rs215150095117:11,924,273G/A—uncertain significance
rs7281925817:11,930,784A/Tintron variant—
rs75020893117:11,958,278C/A—uncertain significance
rs250817552017:11,984,719A/C—uncertain significance
rs250817619517:11,984,811G/T—uncertain significance
rs155555001817:12,011,131C/G—other
rs15090525917:12,011,165A/G—uncertain significance
rs215158783017:12,028,665G/A—uncertain significance
rs250839467317:12,032,511A/T—uncertain significance
rs215159970017:12,044,463G/C—uncertain significance
rs215159974917:12,044,518G/A—uncertain significance
rs187058417:12,047,544A/Gdownstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.