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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NFE2L2
NFE2 like bZIP transcription factor 2
Chromosome 2 Β· 2q31.2
NCBI Gene: 4780Ensembl: ENSG00000116044.17HGNC: HGNC:7782UniProt: A0A8V8TN14
1,912PubMed Papers
21Diseases
2Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
response to oxidative stressDNA-binding transcription activator activity, RNA polymerase II-specificDNA bindingDNA-binding transcription factor activityimmunodeficiency, developmental delay, and hypohomocysteinemiahepatocellular carcinomasquamous cell lung carcinomaFriedreich ataxia
✦AI Summary

NFE2L2 (NRF2) is a master transcription factor that regulates cellular responses to oxidative stress and maintains cellular homeostasis. Under normal conditions, NFE2L2 is regulated by KEAP1-mediated ubiquitination and proteasomal degradation in the cytoplasm 1. Upon oxidative stress, NFE2L2 translocates to the nucleus where it binds to antioxidant response elements (AREs) and activates expression of cytoprotective genes including antioxidant enzymes and detoxification proteins 2. NFE2L2 plays a central role in preventing ferroptosis by upregulating glutathione synthesis enzymes GCLM and GCLC, with glutathione subsequently transported into mitochondria via SLC25A39 to chelate copper and prevent cuproptosis 34. The transcription factor exhibits dual roles in disease: it provides cellular protection against environmental insults in normal cells, but constitutively elevated levels in certain cancers promote tumor survival, progression, and therapy resistance 2. In esophageal squamous cell carcinoma, NFE2L2 mutations are associated with worse prognosis, suggesting it may function as a tumor suppressor in this context 5. Therapeutic targeting of the NFE2L2-KEAP1 pathway shows promise for treating chr2 diseases, with one NRF2 activator already clinically approved 1.

Sources cited
1
NFE2L2 is regulated by KEAP1-mediated degradation and one NRF2 activator has clinical approval
PMID: 30610225
2
NFE2L2 is a master regulator that binds AREs and exhibits dual roles in normal vs cancer cells
PMID: 40038406
3
NFE2L2 upregulates GCLM and GCLC for glutathione synthesis and cuproptosis resistance
PMID: 39609608
4
NFE2L2 plays central role in anti-ferroptotic defense
PMID: 33268902
5
NFE2L2 mutations associated with worse prognosis in esophageal squamous cell carcinoma
PMID: 32398863
Disease Associationsβ“˜21
immunodeficiency, developmental delay, and hypohomocysteinemiaOpen Targets
0.77Strong
hepatocellular carcinomaOpen Targets
0.60Moderate
squamous cell lung carcinomaOpen Targets
0.59Moderate
Friedreich ataxiaOpen Targets
0.54Moderate
head and neck squamous cell carcinomaOpen Targets
0.51Moderate
Abnormality of the skeletal systemOpen Targets
0.47Moderate
urinary bladder cancerOpen Targets
0.44Moderate
esophageal squamous cell carcinomaOpen Targets
0.40Weak
esophageal adenocarcinomaOpen Targets
0.39Weak
esophageal cancerOpen Targets
0.38Weak
endometrial cancerOpen Targets
0.38Weak
lymphoid neoplasmOpen Targets
0.38Weak
lung carcinomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
skin carcinomaOpen Targets
0.37Weak
Immunodeficiency, developmental delay, and hypohomocysteinemiaUniProt
Pathogenic Variants5
NM_006164.5(NFE2L2):c.239C>A (p.Thr80Lys)Pathogenic
Immunodeficiency, developmental delay, and hypohomocysteinemia|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 80
NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys)Pathogenic
Immunodeficiency, developmental delay, and hypohomocysteinemia
β˜†β˜†β˜†β˜†2018β†’ Residue 79
NM_006164.5(NFE2L2):c.91G>A (p.Gly31Arg)Pathogenic
Colorectal cancer|Immunodeficiency, developmental delay, and hypohomocysteinemia
β˜†β˜†β˜†β˜†2018β†’ Residue 31
NM_006164.5(NFE2L2):c.241G>A (p.Gly81Ser)Pathogenic
Immunodeficiency, developmental delay, and hypohomocysteinemia
β˜†β˜†β˜†β˜†2017β†’ Residue 81
NM_006164.5(NFE2L2):c.246A>T (p.Glu82Asp)Likely pathogenic
Lung cancer
β˜†β˜†β˜†β˜†β†’ Residue 82
View on ClinVar β†—
Drug Targets2
BARDOXOLONE METHYLPhase III
Peroxisome proliferator-activated receptor gamma antagonist
mixed connective tissue disease
OMAVELOXOLONEApproved
Nuclear factor erythroid 2-related factor 2 activator
Friedreich ataxia
Related Genes
BTRCProtein interaction100%CUL3Protein interaction100%EP300Protein interaction100%PGAM5Protein interaction100%CRYZProtein interaction99%NQO1Protein interaction99%
Tissue Expression6 tissues
Ovary
100%
Lung
64%
Heart
59%
Liver
51%
Brain
41%
Bone Marrow
39%
Gene Interaction Network
Click a node to explore
NFE2L2BTRCCUL3EP300PGAM5CRYZNQO1
PROTEIN STRUCTURE
Preparing viewer…
PDB2FLU Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.57Moderately Constrained
pLIβ“˜
0.50Intermediate
Observed/Expected LoF0.40 [0.28–0.57]
RankingsWhere NFE2L2 stands among ~20K protein-coding genes
  • #60of 20,598
    Most Researched1,912 Β· top 1%
  • #710of 1,025
    FDA-Approved Drug Targets1
  • #3,453of 5,498
    Most Pathogenic Variants5
  • #3,800of 17,882
    Most Constrained (LOEUF)0.57 Β· top quartile
Genes detectedNFE2L2
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Ferroptosis: molecular mechanisms and health implications.
PMID: 33268902
Cell Res Β· 2021
1.00
2
Thirty years of NRF2: advances and therapeutic challenges.
PMID: 40038406
Nat Rev Drug Discov Β· 2025
0.90
3
USP13 facilitates a ferroptosis-to-autophagy switch by activation of the NFE2L2/NRF2-SQSTM1/p62-KEAP1 axis dependent on the KRAS signaling pathway.
PMID: 39360581
Autophagy Β· 2025
0.82
4
Sirt6 overexpression relieves ferroptosis and delays the progression of diabetic nephropathy via Nrf2/GPX4 pathway.
PMID: 39082470
Ren Fail Β· 2024
0.80
5
Proteasomal and Autophagic Degradation Systems.
PMID: 28460188
Annu Rev Biochem Β· 2017
0.80