MAP2K2

MAP2K2

A gene on chromosome 19p13.3 that encodes mitogen-activated protein kinase kinase 2, which catalyses the simultaneous phosphorylation of a threonine and a tyrosine residue in MAP kinases; it also activates the ERK1 and ERK2 MAP kinases.

Molecular pathology
Defects of MAP2K2 cause cardiofaciocutaneous syndrome.
References in periodicals archive ?
the commonly mutated PTPN11, SOS1, RAF1, KRAS, BRAF, NRAS, HRAS, MAP2K1, MAP2K2, SHOC2, CBL, SPRED1 genes and less common ones such as LZTR1 (more details about the complete list of genes are provided under request).
Recurring false-positive variants in HRAS and MAP2K2 were identified (Supplemental Table 4).
Eight percent of melanomas showed gain-of-function mutations in the MAP2K1 (encoding MEK1) and MAP2K2 (encoding MEK2) genes, (476) resulting in constitutive activation of downstream ERK MAPK.