MAP2K1 Chromosome 15
Mitogen-activated protein kinase kinase 1
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What This Gene Does
The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitogen-activated protein kinase kinases
Locus Type
gene with protein product
Location
15q22.31
Ensembl
ENSG00000169032
Associated Conditions (25)
RASopathy
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome
Cardiofaciocutaneous syndrome 3
Noonan syndrome 1
Melorheostosis
MAP2K1-related disorder
Cardio-facio-cutaneous syndrome
Obesity
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Noonan syndrome
Metastatic melanoma
Spitz Melanocytoma
Vascular malformation
Non-small cell lung carcinoma
Neoplasm
Extracranial arteriovenous malformation
Inborn genetic diseases
Cardiofaciocutaneous syndrome 1
Autism spectrum disorder
+5 more conditions
Key Variants
RS1013906172
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS1054274808
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS1336147749
Conflicting classifications of pathogenicity
Cardiovascular phenotype, RASopathy, Cardiovascular phenotype
Health Risk
RS1428775799
Conflicting classifications of pathogenicity
Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome
Health Risk
RS1462240441
Conflicting classifications of pathogenicity
Cardiofaciocutaneous syndrome 3, RASopathy, Cardiofaciocutaneous syndrome 3
Health Risk
RS1471931068
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS151207265
Conflicting classifications of pathogenicity
RASopathy, Cardiovascular phenotype, Noonan syndrome 1
Health Risk
RS184151283
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS200442489
Conflicting classifications of pathogenicity
RASopathy, Melorheostosis, Cardiofaciocutaneous syndrome 3
Health Risk
RS2140578834
Conflicting classifications of pathogenicity
RASopathy, RASopathy
Health Risk
RS2140668239
Conflicting classifications of pathogenicity
MAP2K1-related disorder, RASopathy, MAP2K1-related disorder
Health Risk
RS2140682882
Conflicting classifications of pathogenicity
RASopathy, Melorheostosis, Cardiofaciocutaneous syndrome 3
Health Risk
All Variants (58)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS727503996 | Health Risk | Pathogenic | Noonan syndrome, RASopathy, Noonan syndrome |
| RS727504317 | Health Risk | Pathogenic | Cardiofaciocutaneous syndrome 3, RASopathy, Cardio-facio-cutaneous syndrome |
| RS730880508 | Health Risk | Pathogenic | RASopathy, RASopathy |
| RS869025608 | Health Risk | Pathogenic | Cardio-facio-cutaneous syndrome, Melorheostosis, Vascular malformation |
| RS876657651 | Health Risk | Pathogenic | RASopathy, Cardiofaciocutaneous syndrome 3, Noonan syndrome 1 |
| RS2140579005 | Health Risk | Pathogenic/Likely pathogenic | Parkes Weber syndrome, Vascular malformation, Parkes Weber syndrome |
| RS2140583383 | Health Risk | Pathogenic/Likely pathogenic | Vascular malformation, Vascular malformation |
| RS730880503 | Health Risk | Pathogenic/Likely pathogenic | MAP2K1-related disorder, RASopathy, MAP2K1-related rasopathy-like syndrome |