GeneID: 479


Common Name: ERF Type: Gene
Chromosome: 19 (NC_000019.10) Locus: NG_042802.1 (ERF)
HUGO Symbol: ERF Full Name: ETS2 repressor factor
Exons: 4 Introns: 3

ERF is a member of the ETS family of transcription factors that play key roles in the regulation of cell proliferation and differentiation. Members of this family share a highly conserved DNA-binding domain, the ETS domain, that recognizes the core consensus DNA sequence GGAA/T of target genes. ERF functions as a transcriptional repressor that binds to the H1 element of the ETS2 promoter. ETS2 is a transcription factor activating transcription. Functional studies showed that epigenetic silencing of ERF associates with elevated haemoglobin F (HbF) in β0-thalassaemia-affected individuals via DNA methyltransferase 3A (DNMT3A)-mediated hypermethylation of the ERF promoter. The depletion of ERF activates HbF in primary CD34+ HSPCs and HUDEP-2 cells; findings were validated in vivo with engraftment of edited human CD34+ HSPCs into immunodeficient mice. ERF acts as a transcriptional repressor of γ-globin genes through direct binding on their distant regulatory elements; 3.6 kb upstream of HBG2 and 1.5 kb downstream of HBG1. These regions are accessible for several known transcription factors and histone modification markers. Epigenetic inactivation of ERF reactivates γ-globin expression in β-thalassaemia without altering the terminal erythroid differentiation. ERF acts as a potential regulator of HbF expression and a candidate therapeutic option for patients with beta-haemoglobinopathies.

Synonyms: PE2 , CRS4 , PE-2 , CHYTS


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Publications / Origin

  1. Bao X, Zhang X, Wang L, Wang Z, Huang J, Zhang Q, Ye Y, Liu Y, Chen D, Zuo Y, Liu Q, Xu P, Huang B, Fang J, Lao J, Feng X, Li Y, Kurita R, Nakamura Y, Yu W, Ju C, Huang C, Mohandas N, Li D, Zhao C, Xu X, Epigenetic inactivation of ERF reactivates γ-globin expression in β-thalassemia., Am J Hum Genet, 108(4), 709-721, 2021 PubMed
Created on 2022-03-23 11:53:46, Last reviewed on (Show full history)

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