MAP3K20
Mitogen-Activated Protein Kinase Kinase Kinase 20
Gene Information Card
| Symbol | MAP3K20 |
|---|---|
| Full Name | Mitogen-Activated Protein Kinase Kinase Kinase 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 51776 ncbi.nlm.nih.gov/gene/51776 |
| Ensembl ID | ENSG00000115966 |
| UniProt ID | Q9NYL2 |
| OMIM ID | 609487 |
| HGNC ID | 17795 |
| Aliases | MLTK, ZAK, MLK7, MLK-like mitogen-activated protein triple kinase |
Description
MAP3K20 encodes a serine/threonine kinase that functions as a mitogen-activated protein kinase kinase kinase (MAP3K). It activates the JNK and p38 MAPK pathways in response to cellular stress and growth factors. The protein contains a kinase domain and a leucine zipper motif, and is involved in cell proliferation, differentiation, and apoptosis. Alternative splicing produces multiple isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated | Loss-of-function mutations impair MAPK signaling in cardiac myocytes | ClinVar |
| Cancer (various types) | Overexpression or gain-of-function mutations promote tumorigenesis via JNK/p38 activation | COSMIC |
| Neurodevelopmental disorders | Missense variants disrupt kinase activity and neuronal signaling | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 15.2 | Medium |
| Skeletal muscle | 12.8 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.1 | Low |
| Testis | 20.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 12.3 | Medium expression |
| K562 | 9.7 | Low expression |
| HepG2 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Loss of kinase activity |
| c.567_568insA (p.Glu190fs) | Frameshift | 0.005% | Loss of function |
| c.2101G>A (p.Glu701Lys) | Missense | 0.02% | Gain of function (cancer) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the kinase domain, reducing MAPK signaling.
Gain of Function (GOF)
Missense mutations in the kinase domain that increase JNK/p38 activation, linked to cancer.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004709 (GO:0004709) | • GO:0007254 (GO:0007254) |
| • GO:0038066 (GO:0038066) | • GO:0005515 (GO:0005515) |
| • GO:0006468 (GO:0006468) |
Pathways
• MAPK signaling pathway (KEGG: hsa04010)
• JNK cascade (Reactome: R-HSA-450294)
• p38 MAPK cascade (Reactome: R-HSA-450302)
Protein Summary
MAP3K20 is a 703-amino-acid serine/threonine kinase with a central kinase domain and a C-terminal leucine zipper. It phosphorylates and activates MAP2K4/MAP2K7 (JNK pathway) and MAP2K3/MAP2K6 (p38 pathway). The protein is expressed in heart, skeletal muscle, and testis, and its dysregulation contributes to cardiomyopathy and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP3K20 Knockout HEK293 Cell Line | EDJ-KQ690 | Human | 51776 | Details Get a Quote |
| MAP3K20 Knockout A-549 Cell Line | EDJ-KQ19250 | Human | 51776 | Details Get a Quote |
| MAP3K20 Knockout HCT 116 Cell Line | EDJ-KQ19251 | Human | 51776 | Details Get a Quote |
| MAP3K20 Knockout HeLa Cell Line | EDJ-KQ19252 | Human | 51776 | Details Get a Quote |
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