DISEASES

Disease-gene associations mined from literature

Literature associating MAP2K2 and cardiofaciocutaneous syndrome

MAP2K2 [ENSP00000262948]

Dual specificity mitogen-activated protein kinase kinase 2; Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity). Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation .

Synonyms:  MAP2K2,  MAP2K2p,  hMAP2K2,  G5E9C7,  M0R1B6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM