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/Tuncertain significance
rs97989963617:11,924,219C/Guncertain significance
rs95991195517:11,924,228G/Auncertain significance
rs74907040817:11,924,246G/Auncertain significance
rs97866816217:11,924,262C/Tuncertain significance
rs54878841517:11,924,270C/Auncertain significance
rs215150095117:11,924,273G/Auncertain significance
rs7281925817:11,930,784A/Tintron variant
rs75020893117:11,958,278C/Auncertain significance
rs250817552017:11,984,719A/Cuncertain significance
rs250817619517:11,984,811G/Tuncertain significance
rs155555001817:12,011,131C/Gother
rs15090525917:12,011,165A/Guncertain significance
rs215158783017:12,028,665G/Auncertain significance
rs250839467317:12,032,511A/Tuncertain significance
rs215159970017:12,044,463G/Cuncertain significance
rs215159974917:12,044,518G/Auncertain significance
rs187058417:12,047,544A/Gdownstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.