This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for EPOR. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = EPOR upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of EPOR, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr19:11,089,041–11,091,015 | 292.0 kb | Distal (>10kb) Multiome | 964 | |
| chr19:11,137,551–11,138,233 | 243.3 kb | Distal (>10kb) Multiome | 584 | |
| chr19:11,155,520–11,156,298 | 225.3 kb | Distal (>10kb) Multiome | 754 | |
| chr19:11,196,759–11,198,184 | 183.6 kb | Distal (>10kb) Multiome | 728 | |
| chr19:11,243,345–11,243,968 | 137.7 kb | Distal (>10kb) Multiome | 448 | |
| chr19:11,262,060–11,262,653 | 118.8 kb | Distal (>10kb) Multiome | 406 | |
| chr19:11,339,100–11,339,837 | 41.6 kb | Distal (>10kb) Multiome | 506 | |
| chr19:11,346,053–11,346,958 | 34.8 kb | Distal (>10kb) Multiome | 676 | |
| chr19:11,355,078–11,355,735 | 25.8 kb | Distal (>10kb) Multiome | 382 | |
| chr19:11,361,368–11,362,625 | 19.6 kb | Distal (>10kb) Multiome | 256 | |
| chr19:11,374,474–11,375,717 | 6.3 kb | Proximal (<10kb) Multiome | 866 | |
| chr19:11,378,362–11,378,545 | 2.7 kb | Proximal (<10kb) | 194 | |
| chr19:11,380,761–11,382,262 | 115 bp | At TSS Multiome | 798 | |
| chr19:11,382,830–11,384,509 | 3.1 kb | Proximal (<10kb) Multiome | 761 | |
| chr19:11,418,061–11,419,498 | 37.4 kb | Distal (>10kb) Multiome | 421 | |
| chr19:11,420,614–11,422,979 | 40.9 kb | Distal (>10kb) Multiome | 507 | |
| chr19:11,434,817–11,436,365 | 54.1 kb | Distal (>10kb) Multiome | 927 | |
| chr19:11,479,217–11,480,146 | 98.4 kb | Distal (>10kb) Multiome | 394 | |
| chr19:11,481,847–11,483,040 | 101.4 kb | Distal (>10kb) Multiome | 938 | |
| chr19:11,504,741–11,506,612 | 124.1 kb | Distal (>10kb) Multiome | 854 | |
| chr19:11,528,581–11,529,391 | 147.9 kb | Distal (>10kb) Multiome | 866 | |
| chr19:11,535,847–11,536,353 | 154.9 kb | Distal (>10kb) Multiome | 694 | |
| chr19:11,538,464–11,539,111 | 157.5 kb | Distal (>10kb) Multiome | 235 | |
| chr19:11,539,738–11,540,434 | 158.8 kb | Distal (>10kb) Multiome | 176 | |
| chr19:11,558,908–11,559,777 | 178.1 kb | Distal (>10kb) Multiome | 686 | |
| chr19:11,597,206–11,598,107 | 216.2 kb | Distal (>10kb) Multiome | 914 | |
| chr19:11,639,337–11,640,481 | 258.5 kb | Distal (>10kb) Multiome | 660 |
Genomic view of the EPOR locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.