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]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
1.15 (Driver)
Recurrently deleted in 3 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.06
Recurrently mutated in 1 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
5
Fusions detected in 3 cancer type(s)
Overall
Tissue specific
CRISPR: STRONGLY SELECTIVE
Functional class:
Kinase (protein kinase)
JensenLab PubMed score:
60.87 (Percentile rank: 65.55%)
PubTator score:
108.58 (Percentile rank: 78.85%)
Target development/druggability level:
TclinThese targets have activities in DrugCentral (ie. approved drugs) with known mechanism of action.
Tractability (small molecule):
Clinical PrecedenceTargets with drugs in phase II or above; Pre-clinical targets
