This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for CYP2R1. 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 = CYP2R1 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 CYP2R1, 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 |
|---|---|---|---|---|
| chr11:14,519,723–14,521,072 | 371.8 kb | Distal (>10kb) Multiome HiCAR | 1010 | |
| chr11:14,643,085–14,645,138 | 248.4 kb | Distal (>10kb) Multiome | 880 | |
| chr11:14,791,132–14,791,866 | 100.7 kb | Distal (>10kb) Multiome | 119 | |
| chr11:14,855,765–14,856,853 | 36.0 kb | Distal (>10kb) Multiome | 173 | |
| chr11:14,886,335–14,887,322 | 5.5 kb | Proximal (<10kb) Multiome | 149 | |
| chr11:14,890,942–14,892,679 | 13 bp | At TSS Multiome | 910 | |
| chr11:14,904,700–14,906,451 | 13.3 kb | Distal (>10kb) Multiome | 355 | |
| chr11:14,907,367–14,908,221 | 15.6 kb | Distal (>10kb) Multiome | 310 | |
| chr11:14,969,633–14,970,312 | 77.8 kb | Distal (>10kb) Multiome | 102 | |
| chr11:14,973,534–14,975,581 | 82.7 kb | Distal (>10kb) Multiome | 299 | |
| chr11:15,034,736–15,035,654 | 143.2 kb | Distal (>10kb) Multiome | 161 | |
| chr11:15,073,189–15,075,422 | 182.8 kb | Distal (>10kb) Multiome | 538 |
Genomic view of the CYP2R1 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.