This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]
Transcription factors with Perturb-seq knockdown data for CYB5R3. 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 = CYB5R3 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 CYB5R3, 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 |
|---|---|---|---|---|
| chr22:42,365,301–42,366,142 | 283.8 kb | Distal (>10kb) Multiome | 197 | |
| chr22:42,368,263–42,369,908 | 280.1 kb | Distal (>10kb) Multiome | 592 | |
| chr22:42,437,555–42,438,618 | 211.6 kb | Distal (>10kb) Multiome | 501 | |
| chr22:42,444,134–42,444,723 | 205.0 kb | Distal (>10kb) Multiome | 574 | |
| chr22:42,499,840–42,501,072 | 148.9 kb | Distal (>10kb) Multiome | 356 | |
| chr22:42,519,544–42,520,134 | 129.6 kb | Distal (>10kb) Multiome | 330 | |
| chr22:42,553,476–42,554,267 | 95.5 kb | Distal (>10kb) Multiome | 514 | |
| chr22:42,581,750–42,582,381 | 67.3 kb | Distal (>10kb) Multiome | 290 | |
| chr22:42,614,291–42,616,423 | 34.0 kb | Distal (>10kb) Multiome | 1280 | |
| chr22:42,648,972–42,649,906 | 51 bp | At TSS Multiome | 625 | |
| chr22:42,662,035–42,662,743 | 12.8 kb | Distal (>10kb) Multiome | 468 | |
| chr22:42,717,276–42,717,600 | 3.3 kb | Proximal (<10kb) | 160 | |
| chr22:42,720,289–42,721,050 | 71.4 kb | Distal (>10kb) Multiome | 297 | |
| chr22:42,800,630–42,801,305 | 151.6 kb | Distal (>10kb) Multiome | 559 | |
| chr22:42,856,601–42,857,716 | 207.9 kb | Distal (>10kb) Multiome | 938 |
Genomic view of the CYB5R3 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.