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GeneE
50 sources retrieved ยท Most recent: April 2026 ยท Index updated 14 days ago
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MAP2K1
mitogen-activated protein kinase kinase 1
Chromosome 15 ยท 15q22.31
NCBI Gene: 5604Ensembl: ENSG00000169032.11HGNC: HGNC:6840UniProt: A0A8I5KYS7
523PubMed Papers
22Diseases
19Drugs
57Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
โœ“ Experimental GO Evidenceโœ“ Swiss-Prot Reviewed
positive regulation of DNA-templated transcriptionpositive regulation of ERK1 and ERK2 cascadeMAP kinase kinase activityciliary basal bodycardiofaciocutaneous syndromecardiofaciocutaneous syndrome 3melanomamelorheostosis
โœฆAI Summary

MAP2K1 (mitogen-activated protein kinase kinase 1) is a dual-specificity protein kinase that serves as a critical node in the MAPK/ERK signaling cascade. Upon activation by upstream RAF proteins following growth factor stimulation, MAP2K1 phosphorylates both threonine and tyrosine residues on ERK1/ERK2, propagating signals that regulate cell growth, differentiation, survival, and adhesion 1. MAP2K1 mutations drive multiple human malignancies and inflammatory diseases. Activating MAP2K1 mutations occur in approximately 20% of Erdheim-Chester disease cases and are found across histiocytic neoplasms, demonstrating remarkable sensitivity to MEK inhibitors with 89% response rates regardless of additional mutations 21. In melanoma, MAP2K1 mutations (found in ~8% of cases) are associated with distinct histopathologic features including spitzoid cytomorphology and in-frame deletions, and predict superior responses to anti-CTLA-4 immunotherapy but not anti-PD-1 monotherapy 34. The functional consequences of MAP2K1 variants vary significantly by mutation type and RAF-dependency, with differential sensitivities to BRAF and MEK inhibitor combinations, necessitating individualized therapeutic assessment 5. MEK1/2 inhibitors like selumetinib provide clinical benefit in neurofibromatosis type 1-associated tumors 6, establishing MAP2K1 inhibition as a broadly effective therapeutic strategy across diverse MAPK-driven diseases.

Sources cited
1
MEK inhibition via cobimetinib achieves 89% overall response rate in histiocytic neoplasms regardless of genotype, including MAP2K1 mutations
PMID: 30867592
2
MAP2K1 mutations found in ~20% of Erdheim-Chester disease patients; MAPK pathway mutations present in >80% of ECD cases
PMID: 32107533
3
MAP2K1 variants exhibit differential sensitivity to BRAF and MEK inhibitors based on RAF dependency; 67 variants of unknown significance evaluated for transforming potential
PMID: 36442478
4
MAP2K1 in-frame deletions in melanocytic tumors show spitzoid cytomorphology and share genotypic-phenotypic correlations with BRAF V600E tumors
PMID: 37565534
5
MAP2K1/2 mutations in melanoma (~8% of cases) predict better response to anti-CTLA-4 therapy but not anti-PD-1 monotherapy
PMID: 35069558
6
Selumetinib (MEK1/2 inhibitor) approved for pediatric neurofibromatosis type 1 patients with symptomatic, inoperable plexiform neurofibromas
PMID: 32504375
7
MAP2K1 in-frame deletions associated with Spitz morphology and diverse melanocytic tumor diagnoses with favorable clinical outcomes
PMID: 33289976
Disease Associationsโ“˜22
cardiofaciocutaneous syndromeOpen Targets
0.83Strong
cardiofaciocutaneous syndrome 3Open Targets
0.81Strong
melanomaOpen Targets
0.73Strong
melorheostosisOpen Targets
0.72Strong
cancerOpen Targets
0.67Moderate
Noonan syndromeOpen Targets
0.66Moderate
neoplasmOpen Targets
0.61Moderate
rasopathyOpen Targets
0.59Moderate
neurofibromatosis type 1Open Targets
0.56Moderate
metastatic melanomaOpen Targets
0.55Moderate
Noonan syndrome with multiple lentiginesOpen Targets
0.54Moderate
cutaneous melanomaOpen Targets
0.51Moderate
Costello syndromeOpen Targets
0.51Moderate
hypertrophic cardiomyopathyOpen Targets
0.51Moderate
non-small cell lung carcinomaOpen Targets
0.48Moderate
cardiofaciocutaneous syndrome 1Open Targets
0.47Moderate
Langerhans Cell HistiocytosisOpen Targets
0.47Moderate
Abnormality of the cardiovascular systemOpen Targets
0.47Moderate
plexiform neurofibromaOpen Targets
0.46Moderate
vascular malformationOpen Targets
0.46Moderate
Cardiofaciocutaneous syndrome 3UniProt
Melorheostosis, isolatedUniProt
Pathogenic Variants57
NM_002755.4(MAP2K1):c.125T>G (p.Leu42Arg)Likely pathogenic
not provided|RASopathy
โ˜…โ˜…โ˜…โ˜†2026โ†’ Residue 42
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)Pathogenic
Cardio-facio-cutaneous syndrome|not specified|Cardiofaciocutaneous syndrome 3|RASopathy
โ˜…โ˜…โ˜…โ˜†2026โ†’ Residue 42
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly)Pathogenic
not provided|Noonan syndrome|RASopathy
โ˜…โ˜…โ˜…โ˜†2025โ†’ Residue 203
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)Likely pathogenic
not provided|Noonan syndrome 1;Cardiofaciocutaneous syndrome 3|Cardiofaciocutaneous syndrome 3|RASopathy
โ˜…โ˜…โ˜…โ˜†2025โ†’ Residue 108
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)Pathogenic
not provided|Cardiofaciocutaneous syndrome 3|Noonan syndrome|RASopathy|Spitz Melanocytoma|Metastatic melanoma
โ˜…โ˜…โ˜…โ˜†2025โ†’ Residue 124
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)Pathogenic
not provided|Cardio-facio-cutaneous syndrome|Noonan syndrome and Noonan-related syndrome|RASopathy
โ˜…โ˜…โ˜…โ˜†2024โ†’ Residue 92
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser)Likely pathogenic
Cardiofaciocutaneous syndrome 3|not provided|Cardio-facio-cutaneous syndrome|RASopathy
โ˜…โ˜…โ˜…โ˜†2024โ†’ Residue 53
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)Pathogenic
RASopathy|Cardiofaciocutaneous syndrome 3;Noonan syndrome 1|Noonan syndrome|Cardiofaciocutaneous syndrome 3
โ˜…โ˜…โ˜…โ˜†2020โ†’ Residue 122
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)Likely pathogenic
Cardio-facio-cutaneous syndrome|RASopathy
โ˜…โ˜…โ˜…โ˜†2017โ†’ Residue 57
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)Pathogenic
Cardiofaciocutaneous syndrome 3|not provided|Cardio-facio-cutaneous syndrome|RASopathy|Noonan syndrome 1;Cardiofaciocutaneous syndrome 3|Melorheostosis|Noonan syndrome 1|MAP2K1-related disorder|Cardiovascular phenotype|Neoplasm|Cardiofaciocutaneous syndrome 1
โ˜…โ˜…โ˜…โ˜†2017โ†’ Residue 130
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)Likely pathogenic
Cardio-facio-cutaneous syndrome|Inborn genetic diseases|not provided
โ˜…โ˜…โ˜…โ˜†2017โ†’ Residue 130
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)Pathogenic
RASopathy|Cardiofaciocutaneous syndrome 3|not provided|Cardio-facio-cutaneous syndrome|Autism spectrum disorder|Cardio-facio-cutaneous syndrome;Noonan syndrome|MAP2K1-related RASopathy|Cardiovascular phenotype|Melorheostosis;Cardiofaciocutaneous syndrome 3|Cardiofaciocutaneous syndrome 1|Embryonal rhabdomyosarcoma
โ˜…โ˜…โ˜…โ˜†2017โ†’ Residue 67
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr)Pathogenic
not provided|MAP2K1-related disorder|RASopathy|MAP2K1-related rasopathy-like syndrome|Cardiofaciocutaneous syndrome 3
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 119
NM_002755.4(MAP2K1):c.527G>T (p.Gly176Val)Pathogenic
Cardiofaciocutaneous syndrome 3|not provided
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 176
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)Pathogenic
Cardio-facio-cutaneous syndrome|Melorheostosis|not provided|Vascular malformation
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 57
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)Pathogenic
Cardiofaciocutaneous syndrome 3|not provided|Cardio-facio-cutaneous syndrome|RASopathy
โ˜…โ˜…โ˜†โ˜†2024โ†’ Residue 128
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)Pathogenic
Non-small cell lung carcinoma|Melorheostosis|not provided|Neoplasm|Extracranial arteriovenous malformation
โ˜…โ˜…โ˜†โ˜†2024โ†’ Residue 56
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)Pathogenic
Cardio-facio-cutaneous syndrome|not provided|Cardiofaciocutaneous syndrome 3|Noonan syndrome and Noonan-related syndrome|RASopathy
โ˜…โ˜…โ˜†โ˜†2024โ†’ Residue 124
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del)Likely pathogenic
not provided|Cardiofaciocutaneous syndrome 3|RASopathy
โ˜…โ˜…โ˜†โ˜†2024โ†’ Residue 59
NM_002755.4(MAP2K1):c.306_311del (p.Ile103_Lys104del)Pathogenic
Vascular malformation|not provided
โ˜…โ˜…โ˜†โ˜†2023โ†’ Residue 103
View on ClinVar โ†—
Drug Targets19
AS-703988Phase I
Dual specificity mitogen-activated protein kinase kinase 1 inhibitor
AVUTOMETINIBPhase III
Dual specificity mitogen-activated protein kinase kinase 1 inhibitor
ovarian cancer
AZD-8330Phase I
Dual specificity mitogen-activated protein kinase kinase 1 inhibitor
BINIMETINIBApproved
Dual specificity mitogen-activated protein kinase kinase 2 inhibitor
melanoma
CI-1040Phase II
Dual specificity mitogen-activated protein kinase kinase 2 inhibitor
lung cancer
COBIMETINIBApproved
Dual specificity mitogen-activated protein kinase kinase 1 inhibitor
melanoma
COBIMETINIB FUMARATEApproved
Dual specificity mitogen-activated protein kinase kinase 1 inhibitor
metastatic melanoma
E-6201Phase II
Dual specificity mitogen-activated protein kinase kinase 1 inhibitor
psoriasis vulgaris
MIRDAMETINIBApproved
Dual specificity mitogen-activated protein kinase kinase 1 inhibitor
plexiform neurofibroma
PIMASERTIBPhase II
Dual specificity mitogen-activated protein kinase kinase 1 inhibitor
colorectal cancer
REFAMETINIBPhase III
Dual specificity mitogen-activated protein kinase kinase 1 inhibitor
RG-7167Phase I
Dual specificity mitogen-activated protein kinase kinase; MEK1/2 inhibitor
RO-4987655Phase I
Dual specificity mitogen-activated protein kinase kinase 2 inhibitor
SELUMETINIBApproved
Dual specificity mitogen-activated protein kinase kinase 2 inhibitor
neurofibromatosis type 1
SELUMETINIB SULFATEApproved
Dual specificity mitogen-activated protein kinase kinase; MEK1/2 inhibitor
neurofibromatosis
TAK-733Phase II
Dual specificity mitogen-activated protein kinase kinase 1 inhibitor
TRAMETINIBApproved
Dual specificity mitogen-activated protein kinase kinase 2 inhibitor
metastatic melanoma
TRAMETINIB DIMETHYL SULFOXIDEApproved
Dual specificity mitogen-activated protein kinase kinase 2 inhibitor
lung cancer
WX-554Phase I/II
Dual specificity mitogen-activated protein kinase kinase 2 inhibitor
Related Genes
ARRB2Protein interaction100%BADProtein interaction100%BRAFProtein interaction100%MAPK14Protein interaction100%KRASProtein interaction100%MAP3K1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
58%
Heart
45%
Lung
40%
Bone Marrow
38%
Ovary
25%
Gene Interaction Network
Click a node to explore
MAP2K1ARRB2BADBRAFMAPK14KRASMAP3K1
PROTEIN STRUCTURE
Preparing viewerโ€ฆ
PDB7B7R ยท 1.70 ร… ยท X-ray
View on RCSB โ†—
Constraintโ“˜
LOEUFโ“˜
0.52Moderately Constrained
pLIโ“˜
0.97Intolerant
Observed/Expected LoF0.32 [0.21โ€“0.52]
RankingsWhere MAP2K1 stands among ~20K protein-coding genes
  • #496of 20,598
    Most Researched523 ยท top 5%
  • #185of 1,025
    FDA-Approved Drug Targets8 ยท top quartile
  • #1,208of 5,498
    Most Pathogenic Variants57 ยท top quartile
  • #3,154of 17,882
    Most Constrained (LOEUF)0.52 ยท top quartile
Genes detectedMAP2K1
Sources retrieved50 papers
Response timeโ€”
๐Ÿ“„ Sources
50โ–ผ
1
Erdheim-Chester disease.
PMID: 32107533
Blood ยท 2020
1.00
2
High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer.
PMID: 36442478
Mol Cancer Ther ยท 2023
0.90
3
Clinical outcomes and genomic profiles of MAP2K1-mutated primary cutaneous melanocytic tumours.
PMID: 40107205
EBioMedicine ยท 2025
0.88
4
Somatic activating mutations in MAP2K1 cause melorheostosis.
PMID: 29643386
Nat Commun ยท 2018
0.82
5
Efficacy of MEK inhibition in patients with histiocytic neoplasms.
PMID: 30867592
Nature ยท 2019
0.80