MAP2K2

Name

mitogen-activated protein kinase kinase 2

Type

protein-coding

Position

4,090,316–4,124,238 (−)

Aliases

CFC4, MAPKK2, MEK2, MKK2, PRKMK2

Ensembl

ENSG00000126934

RefSeq RNA

NM_001440688.1, NM_001440689.1, NM_030662.4

RefSeq protein

NP_001427617.1, NP_001427618.1, NP_109587.1

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008].

via MyGene.info

Gene · Ensembl

mitogen-activated protein kinase kinase 2

Symbol

MAP2K2

Biotype

Protein coding

Organism

Homo sapiens

Location

19:4,090,316-4,124,238

Strand

Reverse (−)

Assembly

GRCh38