MAFK Gene - MAF bZIP Transcription Factor K
A comprehensive guide to MAFK, a member of the small MAF family of basic leucine zipper transcription factors involved in cellular stress response and differentiation.
Gene Information Card
| Symbol | MAFK |
|---|---|
| Full Name | MAF bZIP transcription factor K |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 7975 ncbi.nlm.nih.gov/gene/7975 |
| Ensembl ID | ENSG00000198517 |
| UniProt ID | O60675 |
| OMIM ID | 600197 |
| HGNC ID | 6782 |
| Aliases | NFE2U, p18, MGC111024 |
Description
MAFK encodes a member of the small MAF family of basic leucine zipper (bZIP) transcription factors. The protein forms homodimers or heterodimers with other bZIP factors, such as NFE2 and NRF2, to regulate gene expression in response to oxidative stress and during erythroid differentiation. It binds to the NF-E2 and ARE (antioxidant response element) DNA sequences.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | MAFK heterodimerizes with NRF2; altered expression may dysregulate antioxidant response, promoting tumorigenesis. | COSMIC; literature |
| Chronic obstructive pulmonary disease (COPD) | Oxidative stress pathway involvement; MAFK/NRF2 axis modulates lung inflammation. | NCBI Gene; literature |
| Neurodegenerative disorders | Impaired antioxidant response due to MAFK dysregulation may contribute to neuronal damage. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.9 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| A549 | 11.5 | Lung adenocarcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
| K562 | 7.2 | Chronic myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94C>T (p.Arg32Trp) | Missense | <0.01% | Unknown; may affect DNA binding |
| c.205G>A (p.Glu69Lys) | Missense | <0.01% | Unknown; potential structural impact |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair dimerization or DNA binding, reducing transcriptional activation of target genes.
Gain of Function (GOF)
Not well documented; no known gain-of-function mutations reported in major databases.
Dominant Negative (DN)
Theoretical; a mutant MAFK could sequester NRF2 or other partners, inhibiting normal function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nrf2-mediated oxidative stress response (Reactome R-HSA-9759194)
• Erythroid differentiation (KEGG hsa04630)
Protein Summary
MAFK is a 156-amino acid protein (18 kDa) containing a bZIP domain. It lacks a transactivation domain and functions primarily as a small MAF protein that forms heterodimers with cap'n'collar (CNC) family members like NRF2. These complexes bind to antioxidant response elements (AREs) to regulate genes involved in detoxification and antioxidant defense. MAFK also participates in erythroid gene regulation via NF-E2 sites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAFK Knockout HEK293 Cell Line | EDJ-KQ3807 | Human | 7975 | Details Get a Quote |
| MAFK Knockout A-549 Cell Line | EDJ-KQ25931 | Human | 7975 | Details Get a Quote |
| MAFK Knockout HCT 116 Cell Line | EDJ-KQ25932 | Human | 7975 | Details Get a Quote |
| MAFK Knockout HeLa Cell Line | EDJ-KQ25933 | Human | 7975 | Details Get a Quote |
