The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
Transcription factors with Perturb-seq knockdown data for DYSF. 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 = DYSF 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 DYSF, 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 |
|---|---|---|---|---|
| chr2:71,226,288–71,227,849 | 226.2 kb | Distal (>10kb) Multiome | 657 | |
| chr2:71,276,206–71,277,158 | 177.0 kb | Distal (>10kb) Multiome | 790 | |
| chr2:71,331,200–71,332,517 | 121.7 kb | Distal (>10kb) Multiome | 920 | |
| chr2:71,453,379–71,454,558 | 242 bp | At TSS Multiome | 298 | |
| chr2:71,460,996–71,461,314 | 7.4 kb | Proximal (<10kb) | 82 | |
| chr2:71,466,113–71,467,114 | at TSS | At TSS | 334 |
Genomic view of the DYSF 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.