This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
Transcription factors with Perturb-seq knockdown data for SGCE. 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 = SGCE 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 SGCE, 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 |
|---|---|---|---|---|
| chr7:94,374,301–94,375,925 | 280.7 kb | Distal (>10kb) Multiome | 250 | |
| chr7:94,393,359–94,395,729 | 261.5 kb | Distal (>10kb) Multiome | 479 | |
| chr7:94,509,249–94,510,982 | 146.1 kb | Distal (>10kb) Multiome | 908 | |
| chr7:94,517,104–94,518,155 | 138.3 kb | Distal (>10kb) Multiome | 58 | |
| chr7:94,647,408–94,647,584 | 8.6 kb | Proximal (<10kb) | 10 | |
| chr7:94,655,105–94,659,080 | 2.1 kb | Proximal (<10kb) Multiome | 828 | |
| chr7:94,907,116–94,909,189 | 251.6 kb | Distal (>10kb) Multiome | 825 | |
| chr7:94,933,384–94,934,161 | 277.6 kb | Distal (>10kb) Multiome | 199 |
Genomic view of the SGCE 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.