NFE2L3 Gene - Nuclear Factor, Erythroid 2 Like 3
Comprehensive genomic and functional overview of NFE2L3, a bZIP transcription factor involved in oxidative stress response and cellular differentiation.
Gene Information Card
| Symbol | NFE2L3 |
|---|---|
| Full Name | Nuclear Factor, Erythroid 2 Like 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 9603 ncbi.nlm.nih.gov/gene/9603 |
| Ensembl ID | ENSG00000106565 |
| UniProt ID | Q9Y4A8 |
| OMIM ID | 604135 |
| HGNC ID | 7782 |
| Aliases | NRF3, NFE2-related factor 3 |
Description
NFE2L3 (Nuclear Factor, Erythroid 2 Like 3), also known as NRF3, is a member of the Cap'n'Collar (CNC) basic leucine zipper (bZIP) transcription factor family. It plays a role in the cellular response to oxidative stress, differentiation, and proliferation. NFE2L3 is widely expressed in human tissues and has been implicated in cancer, particularly in promoting tumor growth and resistance to therapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of NFE2L3 promotes cell proliferation and migration; may activate antioxidant response genes | PMID: 30872563 |
| Colorectal Cancer | NFE2L3 upregulation correlates with poor prognosis; enhances Wnt/β-catenin signaling | PMID: 31525674 |
| Hepatocellular Carcinoma | NFE2L3 is overexpressed and associated with tumor progression and metastasis | PMID: 29719226 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Liver | 6.1 | Medium |
| Lung | 5.4 | Low |
| Breast | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HepG2 | 9.8 | Moderate expression in liver cancer cells |
| MCF7 | 6.3 | Moderate expression in breast cancer cells |
| A549 | 4.7 | Low expression in lung cancer cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect; rare variant |
| c.1282G>A (p.Glu428Lys) | Missense | <0.01% | Unknown functional effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in NFE2L3.
Gain of Function (GOF)
Overexpression in multiple cancers suggests potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations described for NFE2L3.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Oxidative stress response (NRF2-ARE pathway related)
• Wnt/β-catenin signaling (in colorectal cancer)
Protein Summary
The NFE2L3 protein (NRF3) is a 694-amino acid transcription factor containing a CNC-bZIP domain. It heterodimerizes with small Maf proteins to bind antioxidant response elements (AREs) in the promoters of target genes. NRF3 is involved in regulating genes that protect cells from oxidative damage, and its dysregulation is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NFE2L3 Knockout HEK293 Cell Line | EDJ-KQ6652 | Human | 9603 | Details Get a Quote |
| NFE2L3 Knockout A-549 Cell Line | EDJ-KQ30940 | Human | 9603 | Details Get a Quote |
| NFE2L3 Knockout HCT 116 Cell Line | EDJ-KQ30941 | Human | 9603 | Details Get a Quote |
| NFE2L3 Knockout HeLa Cell Line | EDJ-KQ30942 | Human | 9603 | Details Get a Quote |