MAP3K6
Mitogen-Activated Protein Kinase Kinase Kinase 6
Gene Information Card
| Symbol | MAP3K6 |
|---|---|
| Full Name | Mitogen-Activated Protein Kinase Kinase Kinase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 9064 ncbi.nlm.nih.gov/gene/9064 |
| Ensembl ID | ENSG00000142733 |
| UniProt ID | O95382 |
| OMIM ID | 602006 |
| HGNC ID | 6859 |
| Aliases | MEKK6, ASK2, MAPKKK6 |
Description
MAP3K6 (Mitogen-Activated Protein Kinase Kinase Kinase 6) encodes a member of the serine/threonine protein kinase family. This protein is a MAP3K that activates the JNK and p38 signaling pathways in response to cellular stress and cytokines. It plays a role in apoptosis, inflammation, and cell survival. Mutations in MAP3K6 have been implicated in various cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss-of-function mutations impair stress signaling, promoting tumorigenesis | COSMIC, ClinVar |
| Gastric cancer | Somatic mutations and reduced expression linked to poor prognosis | COSMIC, NCBI |
| Inflammatory bowel disease | Altered MAP3K6 signaling may contribute to chronic inflammation | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Esophagus | 9.3 | Medium |
| Skin | 8.1 | Medium |
| Lung | 6.5 | Low |
| Colon | 5.2 | Low |
| Breast | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 7.2 | Moderate expression |
| HCT116 (colon) | 6.1 | Moderate expression |
| MCF7 (breast) | 4.5 | Low expression |
| HEK293 (embryonic kidney) | 3.9 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.211C>T (p.Arg71*) | Nonsense | 0.02% | Loss of function |
| c.1045G>A (p.Gly349Arg) | Missense | 0.01% | Unknown significance |
| c.1687_1688insA (p.Thr563Asnfs*2) | Frameshift | 0.005% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations truncate the kinase domain, abolishing activity.
Gain of Function (GOF)
Not reported in MAP3K6.
Dominant Negative (DN)
Not established for MAP3K6.
View complete mutation data:
Gene Ontology (GO)
| • MAP kinase kinase kinase activity | • protein serine/threonine kinase activity |
| • ATP binding | • signal transduction |
| • JNK cascade | • p38 MAPK cascade |
| • apoptotic process | • inflammatory response |
Pathways
• MAPK signaling pathway (KEGG: hsa04010)
• JNK signaling (Reactome: R-HSA-450294)
• p38 signaling (Reactome: R-HSA-450302)
Protein Summary
MAP3K6 is a 1,247-amino-acid protein containing an N-terminal regulatory domain and a C-terminal kinase domain. It functions as a MAP3K that phosphorylates and activates MKK3/MKK6, leading to p38 activation, and MKK4/MKK7, leading to JNK activation. The protein is widely expressed in epithelial tissues and is involved in stress responses, differentiation, and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP3K6 Knockout HEK293 Cell Line | EDJ-KQ694 | Human | 9064 | Details Get a Quote |
| MAP3K6 Knockout A-549 Cell Line | EDJ-KQ18141 | Human | 9064 | Details Get a Quote |
| MAP3K6 Knockout HCT 116 Cell Line | EDJ-KQ19263 | Human | 9064 | Details Get a Quote |
| MAP3K6 Knockout HeLa Cell Line | EDJ-KQ19264 | Human | 9064 | Details Get a Quote |
| MAP3K6 Knockout HAP1 Cell Line | EDC07808 | Human | 9064 | Details Get a Quote |
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