GeneID: 479
Names
Common Name: | ERF | Type: | Gene |
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Chromosome: | 19 (NC_000019.10) | Locus: | NG_042802.1 (ERF) |
HUGO Symbol: | ERF | Full Name: | ETS2 repressor factor |
Exons: | 4 | Introns: | 3 |
Description:
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.
CRISPR-Cas9-targeted depletion of the ETS2 repressor factor (ERF) displayed marked HbF induction in primary CD34+ HSPCs and HUDEP-2 cells, and edited HSPCs demonstrated engraftment in immunocompromised mice. The depletion of ERF did not lead to observable changes in either erythroid differentiation or enucleation rate of cells. 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. In addition, DNMT3A [GeneID: 500]-mediated hypermethylation of the ERF promoter showed that epigenetic silencing of ERF associates with elevated haemoglobin F (HbF) in β-thalassaemia erythroid cells. 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
Comments:
N/A
Number of entries/variants: 0
Publications / Origin
- 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
A/A | Date | Curator(s) | Comments |
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1 | 2022-03-23 11:53:46 | The IthaGenes Curation Team | Created |
2 | 2022-12-06 11:45:03 | The IthaGenes Curation Team | Reviewed. Text edits. |