MAP2K2
Mitogen-Activated Protein Kinase Kinase 2
Gene Information Card
| Symbol | MAP2K2 |
|---|---|
| Full Name | Mitogen-Activated Protein Kinase Kinase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 5605 ncbi.nlm.nih.gov/gene/5605 |
| Ensembl ID | ENSG00000126934 |
| UniProt ID | P36507 |
| OMIM ID | 601263 |
| HGNC ID | 6842 |
| Aliases | MEK2, MKK2, PRKMK2 |
Description
The MAP2K2 gene encodes dual specificity mitogen-activated protein kinase kinase 2 (MEK2), a serine/threonine/tyrosine kinase that phosphorylates and activates ERK1/2. MEK2 is a critical component of the RAS-RAF-MEK-ERK signaling cascade, regulating cell proliferation, differentiation, and survival. Germline mutations in MAP2K2 cause cardiofaciocutaneous syndrome (CFC) and Noonan syndrome, while somatic alterations are implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiofaciocutaneous syndrome (CFC) | Germline gain-of-function mutations in MAP2K2 lead to constitutive activation of MEK2, causing hyperactive RAS-MAPK signaling during development. | ClinVar, OMIM |
| Noonan syndrome | Rare MAP2K2 missense variants (e.g., p.Phe57Ser) result in increased MEK2 activity, contributing to the Noonan phenotype. | ClinVar, OMIM |
| Cancer (various) | Somatic mutations and overexpression of MAP2K2 drive aberrant ERK signaling, promoting tumor growth and resistance to targeted therapies. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 9.2 | Medium |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.2 | High expression |
| HeLa | 12.5 | Medium expression |
| A549 | 9.8 | Medium expression |
| MCF7 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.389A>G (p.Tyr130Cys) | Missense | <0.1% (germline) | Gain-of-function; associated with CFC syndrome |
| c.170T>C (p.Phe57Ser) | Missense | <0.1% (germline) | Gain-of-function; associated with Noonan syndrome |
| c.371C>T (p.Pro124Leu) | Missense | <0.1% (somatic) | Gain-of-function; reported in melanoma |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; loss-of-function variants are rare and may impair ERK activation.
Gain of Function (GOF)
Most pathogenic mutations (e.g., p.Tyr130Cys, p.Phe57Ser) increase MEK2 kinase activity, leading to constitutive ERK signaling.
Dominant Negative (DN)
Not described for MAP2K2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RAS-RAF-MEK-ERK signaling pathway (Reactome R-HSA-5673001)
• MAPK signaling pathway (KEGG hsa04010)
• Signaling by Receptor Tyrosine Kinases (Reactome R-HSA-9006925)
Protein Summary
MEK2 is a 400-amino-acid dual specificity kinase that phosphorylates ERK1/2 at Thr-Glu-Tyr motifs. It contains an N-terminal regulatory domain, a catalytic kinase domain, and a C-terminal tail. MEK2 is activated by RAF kinases and inactivated by phosphatases. Its structure includes a unique proline-rich region that mediates interactions with ERK and scaffold proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP2K2 Knockout HEK293 Cell Line | EDJ-KQ17833 | Human | 5605 | Details Get a Quote |
| MAP2K2 Knockout A-549 Cell Line | EDJ-KQ19224 | Human | 5605 | Details Get a Quote |
| MAP2K2 Knockout HCT 116 Cell Line | EDJ-KQ19226 | Human | 5605 | Details Get a Quote |
| MAP2K2 Knockout HeLa Cell Line | EDJ-KQ19227 | Human | 5605 | Details Get a Quote |
| MAP2K2 (p.I220=) Point Mutation in HAP1 Cell Line | EDC03535 | Human | 5605 | Details Get a Quote |
| MAP2K2 (p.D151=) Point Mutation in HAP1 Cell Line | EDC03536 | Human | 5605 | Details Get a Quote |
