MAP2K2 Chromosome 19
Mitogen-activated protein kinase kinase 2
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What This Gene Does
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]
Gene Info
Gene Group
Mitogen-activated protein kinase kinases
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000126934
Associated Conditions (13)
Noonan syndrome and Noonan-related syndrome
RASopathy
Cardiovascular phenotype
Cardiofaciocutaneous syndrome 4
Noonan syndrome
Neurofibromatosis-Noonan syndrome
MAP2K2-related disorder
Noonan syndrome with multiple lentigines
Noonan syndrome 1
Cardio-facio-cutaneous syndrome
Smith-Magenis Syndrome-like
Castleman-Kojima disease
Cardiofaciocutaneous syndrome 1
Key Variants
RS1041035741
Conflicting classifications of pathogenicity
Noonan syndrome and Noonan-related syndrome, RASopathy, Cardiovascular phenotype
Health Risk
RS1057523493
Conflicting classifications of pathogenicity
Health Risk
RS1064794489
Conflicting classifications of pathogenicity
Health Risk
RS1064797064
Conflicting classifications of pathogenicity
Cardiovascular phenotype, RASopathy, Cardiovascular phenotype
Health Risk
RS1205517548
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiofaciocutaneous syndrome 4, Cardiovascular phenotype
Health Risk
RS1323923681
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS140111079
Conflicting classifications of pathogenicity
RASopathy, Cardiofaciocutaneous syndrome 4, RASopathy
Health Risk
RS147276536
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS150369301
Conflicting classifications of pathogenicity
Noonan syndrome, RASopathy, Noonan syndrome
Health Risk
RS151133017
Conflicting classifications of pathogenicity
Noonan syndrome, RASopathy, Noonan syndrome and Noonan-related syndrome
Health Risk
RS1555696933
Conflicting classifications of pathogenicity
Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome
Health Risk
RS185999703
Conflicting classifications of pathogenicity
RASopathy, Cardiofaciocutaneous syndrome 4, RASopathy
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1135401787 | Health Risk | Likely pathogenic | Cardiofaciocutaneous syndrome 4, Cardiofaciocutaneous syndrome 4 |
| RS1599307313 | Health Risk | Likely pathogenic | Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome |
| RS201129499 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS2145080530 | Health Risk | Likely pathogenic | Cardiofaciocutaneous syndrome 4, Cardiofaciocutaneous syndrome 4 |
| RS727504370 | Health Risk | Likely pathogenic | RASopathy, Cardio-facio-cutaneous syndrome, Noonan syndrome |
| RS727504382 | Health Risk | Likely pathogenic | RASopathy, Cardio-facio-cutaneous syndrome, Noonan syndrome |
| RS730880518 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS1057519910 | Health Risk | Pathogenic | RASopathy, RASopathy |
| RS1114167351 | Health Risk | Pathogenic | Smith-Magenis Syndrome-like, Smith-Magenis Syndrome-like |
| RS121434497 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 4, Cardio-facio-cutaneous syndrome, RASopathy |
| RS121434499 | Health Risk | Pathogenic | Cardio-facio-cutaneous syndrome, Cardiofaciocutaneous syndrome 4, RASopathy |
| RS387906800 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 4, RASopathy, Cardiovascular phenotype |
| RS1057519806 | Health Risk | Pathogenic/Likely pathogenic | Cardiofaciocutaneous syndrome 4, Cardio-facio-cutaneous syndrome, RASopathy |
| RS121434498 | Health Risk | Pathogenic/Likely pathogenic | Cardiofaciocutaneous syndrome 4, Cardio-facio-cutaneous syndrome, RASopathy |
| RS267607230 | Health Risk | Pathogenic/Likely pathogenic | Cardiofaciocutaneous syndrome 4, Cardio-facio-cutaneous syndrome, RASopathy |
| RS730880517 | Health Risk | Pathogenic/Likely pathogenic | Cardiofaciocutaneous syndrome 1, RASopathy, Cardiofaciocutaneous syndrome 4 |