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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NFE2
nuclear factor, erythroid 2
Chromosome 12 · 12q13.13
NCBI Gene: 4778Ensembl: ENSG00000123405.15HGNC: HGNC:7780UniProt: A8K3E0
82PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingWW domain bindingprotein-DNA complexDNA bindingdeep vein thrombosisPhlebitisThromboembolismThrombophlebitis
✦AI Summary

NFE2 (nuclear factor, erythroid 2) is a transcription factor that forms heterodimers with small MAF proteins to regulate gene expression in hematopoietic cells 1. The NFE2-MAF complex binds to regulatory elements containing TCAT/C sequences in target gene promoters 1. While initially characterized as a regulator of globin gene expression, NFE2 knockout mice revealed that its primary function is controlling megakaryocyte biogenesis and platelet production, with only mild erythroid abnormalities observed 1. Beyond hematopoietic roles, recent evidence demonstrates that NFE2 functions in non-hematopoietic tissues including trophoblast and bone 1. Mechanistically, NFE2 activity is controlled through posttranslational modifications and operates within regulatory networks involving transcription factors such as GATA1 and RUNX1 1. Clinically, NFE2 dysregulation has been linked to hematological disorders including polycythemias 1. Emerging research reveals NFE2's role in pathological processes: it drives neutrophil polarization in pancreatic cancer liver metastasis through TGF-β-SMAD3 pathway activation, promoting neutrophil extracellular trap formation at invasive fronts 2. Additionally, NFE2L2 (an NFE2 family member) participates in retrograde mitochondrial-nuclear signaling affecting retinal pigment epithelial heterogeneity in age-related macular degeneration 3.

Sources cited
1
NFE2 forms heterodimers with small MAF proteins, primary role in megakaryocyte biogenesis and platelet production, expression in hematopoietic and non-hematopoietic tissues, involvement in regulatory networks with GATA1 and RUNX1, linkage to polycythemias
PMID: 25721735
2
NFE2 drives neutrophil polarization in pancreatic cancer liver metastasis through TGF-β-SMAD3 pathway activation and promotes neutrophil extracellular trap formation
PMID: 39827463
3
NFE2L2 participates in retrograde mitochondrial-nuclear signaling affecting retinal pigment epithelial heterogeneity in age-related macular degeneration
PMID: 35921555
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
deep vein thrombosisOpen Targets
0.29Weak
PhlebitisOpen Targets
0.14Weak
ThromboembolismOpen Targets
0.12Weak
ThrombophlebitisOpen Targets
0.10Weak
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
fetal growth restrictionOpen Targets
0.08Suggestive
emphysemaOpen Targets
0.07Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
Juvenile Myelomonocytic LeukemiaOpen Targets
0.06Suggestive
transient myeloproliferative syndromeOpen Targets
0.06Suggestive
Acute LeukemiaOpen Targets
0.06Suggestive
acute monocytic leukemiaOpen Targets
0.06Suggestive
chronic myeloproliferative disorderOpen Targets
0.06Suggestive
T-cell acute lymphoblastic leukemiaOpen Targets
0.06Suggestive
Li-Fraumeni syndromeOpen Targets
0.06Suggestive
leukemia, acute, X-linkedOpen Targets
0.06Suggestive
smoking initiationOpen Targets
0.06Suggestive
myofibromatosis, infantile, 1Open Targets
0.06Suggestive
chronic myelogenous leukemiaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MAFGProtein interaction99%MAFKProtein interaction99%MAFProtein interaction99%MAFFProtein interaction90%CBFBProtein interaction88%ZFPM1Protein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
33%
Liver
3%
Brain
1%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
NFE2MAFGMAFKMAFMAFFCBFBZFPM1
PROTEIN STRUCTURE
Preparing viewer…
PDB2KZ5 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.50 [0.33–0.80]
RankingsWhere NFE2 stands among ~20K protein-coding genes
  • #5,810of 20,598
    Most Researched82
  • #6,630of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedNFE2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Endoplasmic reticulum stress-triggered ferroptosis via the XBP1-Hrd1-Nrf2 pathway induces EMT progression in diabetic nephropathy.
PMID: 37224754
Biomed Pharmacother · 2023
1.00
2
Therapeutic targeting of the NRF2 and KEAP1 partnership in chronic diseases.
PMID: 30610225
Nat Rev Drug Discov · 2019
0.90
3
NFE2-driven neutrophil polarization promotes pancreatic cancer liver metastasis progression.
PMID: 39827463
Cell Rep · 2025
0.80
4
Mitophagy initiates retrograde mitochondrial-nuclear signaling to guide retinal pigment cell heterogeneity.
PMID: 35921555
Autophagy · 2023
0.70
5
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 · 2025
0.60