The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for RP2. 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 = RP2 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 RP2, 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 |
|---|---|---|---|---|
| chrX:46,545,117–46,545,628 | 291.6 kb | Distal (>10kb) Multiome | 641 | |
| chrX:46,573,341–46,574,623 | 263.3 kb | Distal (>10kb) Multiome | 500 | |
| chrX:46,758,820–46,759,807 | 77.7 kb | Distal (>10kb) Multiome | 494 | |
| chrX:46,777,921–46,778,647 | 58.8 kb | Distal (>10kb) Multiome | 97 | |
| chrX:46,836,621–46,837,502 | 156 bp | At TSS Multiome | 606 | |
| chrX:46,903,672–46,904,257 | 66.9 kb | Distal (>10kb) Multiome | 417 | |
| chrX:46,912,095–46,913,434 | 75.5 kb | Distal (>10kb) Multiome | 558 | |
| chrX:47,129,095–47,129,667 | 292.3 kb | Distal (>10kb) Multiome | 538 |
Genomic view of the RP2 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.