MAP2K2 Gene

MAP2K2 gene: MAP2K2 gene (MAP2K2 stands for "Mitogen-Activated Protein Kinase Kinase 2") is a protein coding gene located on chromosome 19p13.3.

The protein encoded by the MAP2K2 gene belongs to the family of dual-specificity mitogen-activated protein kinase (MAP kinase) protein kinases. This kinase is known to play a critical role in mitogenic growth factor signal transduction. It phosphorylates and thereby activates MAPK1/ERK2 and MAPK2/ERK3. Activation of this kinase itself is dependent on Ser/Thr phosphorylation by MAP kinase kinases. Mutations in this gene cause cardio-facio-cutaneous syndrome (CFC syndrome), a disease characterized by cardiac defects, cognitive disabilities, and distinctive facial features similar to those of Noonan syndrome.

Inhibition or degradation of this kinase is also involved in the pathogenesis of Yersinia and anthrax.

Linden and Price (2011) reported the one family showing vertical transmission of CFC4. The proband was a 46-year-old man with mild developmental delay, childhood pulmonary stenosis, myopia, short stature, tightly curled short hair, absent eyebrows, hyperelastic skin, and multiple lentigines . His 40-year-old brother and 68-year-old mother had similar characteristics. Linden and Price (2011) highlighted the mild cognitive phenotype in these patients, suggesting greater reproductive success.

1. Linden HC et al (2011) Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. Clin Dysmorph 20: 86-88.
2. Rauen KA (2016) Cardiofaciocutaneous syndrome. In: Adam MP, Mirzaa GM et al. editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle 1993-2022.