MAP4K2
Mitogen-Activated Protein Kinase Kinase Kinase Kinase 2
Gene Information Card
| Symbol | MAP4K2 |
|---|---|
| Full Name | Mitogen-Activated Protein Kinase Kinase Kinase Kinase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 5871 ncbi.nlm.nih.gov/gene/5871 |
| Ensembl ID | ENSG00000110367 |
| UniProt ID | Q9Y6S9 |
| OMIM ID | 603166 |
| HGNC ID | 6866 |
| Aliases | GCK, MEKKK2, BL44, RAB8IP |
Description
MAP4K2 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 2) encodes a serine/threonine kinase belonging to the STE20 family. It acts upstream of MAPK cascades, regulating cell proliferation, differentiation, and stress responses. The protein interacts with small GTPases and is involved in cytoskeletal organization and immune signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of MAPK signaling via overexpression or mutation | COSMIC, ClinVar |
| Immunodeficiency | Altered kinase activity affecting T-cell signaling | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 10.2 | Moderate expression |
| K562 | 7.8 | Low expression |
| A549 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Unknown functional impact |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair kinase activity.
Gain of Function (GOF)
Not well documented.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • MAPK cascade | • signal transduction |
| • protein phosphorylation | • cytoskeleton organization |
Pathways
• MAPK signaling pathway
• JNK cascade
• Fc epsilon RI signaling pathway
• T cell receptor signaling pathway
Protein Summary
MAP4K2 is a 911-amino acid serine/threonine kinase with an N-terminal kinase domain and a C-terminal regulatory region. It phosphorylates and activates downstream MAP2Ks, particularly in stress and immune responses. The protein localizes to the cytoplasm and membrane, and its activity is modulated by autophosphorylation and interaction with small GTPases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP4K2 Knockout HEK293 Cell Line | EDJ-KQ1878 | Human | 5871 | Details Get a Quote |
| MAP4K2 Knockout A-549 Cell Line | EDJ-KQ23123 | Human | 5871 | Details Get a Quote |
| MAP4K2 Knockout HCT 116 Cell Line | EDJ-KQ23125 | Human | 5871 | Details Get a Quote |
| MAP4K2 Knockout HeLa Cell Line | EDJ-KQ23126 | Human | 5871 | Details Get a Quote |
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