This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for RYR2. 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 = RYR2 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 RYR2, 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 |
|---|---|---|---|---|
| chr1:236,794,715–236,796,156 | 246.9 kb | Distal (>10kb) Multiome | 1141 | |
| chr1:237,031,435–237,032,652 | 10.0 kb | Distal (>10kb) Multiome | 236 | |
| chr1:237,041,385–237,043,717 | 81 bp | At TSS Multiome | 473 | |
| chr1:237,044,300–237,044,664 | 2.1 kb | Proximal (<10kb) | 44 | |
| chr1:237,239,166–237,239,880 | 197.3 kb | Distal (>10kb) Multiome | 136 | |
| chr1:237,799,767–237,800,288 | at TSS | At TSS | 203 | |
| chr1:237,806,860–237,807,247 | 6.8 kb | Proximal (<10kb) | 109 | |
| chr1:239,385,931–239,388,358 | 2344.5 kb | Distal (>10kb) Multiome HiCAR | 441 | |
| chr1:239,809,722–239,811,934 | 2767.9 kb | Distal (>10kb) Multiome HiCAR | 344 |
Genomic view of the RYR2 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.