The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for EPB41. 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 = EPB41 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 EPB41, 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 |
|---|---|---|---|---|
| chr1:28,592,018–28,592,768 | 294.7 kb | Distal (>10kb) Multiome | 394 | |
| chr1:28,642,403–28,643,726 | 243.9 kb | Distal (>10kb) Multiome | 980 | |
| chr1:28,648,003–28,650,002 | 238.2 kb | Distal (>10kb) Multiome | 1377 | |
| chr1:28,667,742–28,669,783 | 218.7 kb | Distal (>10kb) Multiome | 804 | |
| chr1:28,736,098–28,738,080 | 150.4 kb | Distal (>10kb) Multiome | 1106 | |
| chr1:28,811,880–28,812,661 | 74.8 kb | Distal (>10kb) Multiome | 219 | |
| chr1:28,877,261–28,877,485 | 9.6 kb | Proximal (<10kb) | 345 | |
| chr1:28,881,894–28,882,433 | 4.8 kb | Proximal (<10kb) Multiome | 615 | |
| chr1:28,885,045–28,885,329 | 1.8 kb | Proximal (<10kb) | 697 | |
| chr1:28,886,723–28,888,425 | 1.1 kb | Proximal (<10kb) Multiome | 709 | |
| chr1:28,913,920–28,915,470 | 27.4 kb | Distal (>10kb) Multiome | 738 | |
| chr1:29,120,877–29,125,914 | 235.3 kb | Distal (>10kb) Multiome HiCAR | 782 | |
| chr1:29,181,113–29,182,382 | 294.9 kb | Distal (>10kb) Multiome | 1028 | |
| chr1:30,690,022–30,690,694 | 1803.2 kb | Distal (>10kb) Multiome HiCAR | 35 |
Genomic view of the EPB41 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.