GeneID: 243


Common Name: NRF2 Type: Gene
Chromosome: 2 (NC_000002.12) Locus: N/A
HUGO Symbol: NFE2L2 Full Name: nuclear factor, erythroid 2 like 2
Exons: 5 Introns: 4

This gene encodes a transcription factor (TF) which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded TF regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. It was associated with erythroid differentiation and shown to play a direct role in globin gene regulation through modulation of the chromatin structure in the β-globin locus. NRF2 can regulate γ-globin expression through binding at the HS2 site of the locus control region (βLCR). Specifically, NRF2 forms heterodimers with small MAF proteins to mediate looping between the βLCR and γ-globin promoters to activate transcription. The miR-144 represses NRF2 gene expression and decreases binding in the γ-globin ARE, leading to repression of γ-globin gene transcription and low fetal haemoglobin (HbF) in normal and sickle erythroid cells. NRF2-ablation studies in a humanized SCD mouse model have shown reduction in HbF expression during gestational erythropoiesis and severity of the SCD phenotype. NRF2 is a candidate regulator of HbF expression.

Synonyms: HEBP1 , IMDDHH


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Publications / Origin

  1. Zhu X, Li B, Pace BS, NRF2 mediates γ-globin gene regulation and fetal hemoglobin induction in human erythroid progenitors., Haematologica , 102(8), e285-e288, 2017 PubMed
  2. Zhu X, Xi C, Thomas B, Pace BS, Loss of NRF2 function exacerbates the pathophysiology of sickle cell disease in a transgenic mouse model., Blood , 131(5), 558-562, 2018 PubMed
  3. Li B, Zhu X, Ward CM, Starlard-Davenport A, Takezaki M, Berry A, Ward A, Wilder C, Neunert C, Kutlar A, Pace BS, MIR-144-mediated NRF2 gene silencing inhibits fetal hemoglobin expression in sickle cell disease., Exp. Hematol., 70(0), 85-96.e5, 2019 PubMed
Created on 2018-02-27 19:46:02, Last reviewed on 2020-01-09 17:15:22 (Show full history)

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