The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Transcription factors with Perturb-seq knockdown data for CYB5A. 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 = CYB5A 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 CYB5A, 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 |
|---|---|---|---|---|
| chr18:72,692,057–72,692,906 | 1599.6 kb | Distal (>10kb) Multiome HiCAR | 173 | |
| chr18:74,147,321–74,148,959 | 143.6 kb | Distal (>10kb) Multiome | 990 | |
| chr18:74,281,103–74,282,795 | 9.3 kb | Proximal (<10kb) Multiome | 450 | |
| chr18:74,283,722–74,284,025 | 7.9 kb | Proximal (<10kb) | 20 | |
| chr18:74,290,874–74,292,549 | 114 bp | At TSS Multiome | 848 | |
| chr18:74,292,951–74,293,306 | 978 bp | At TSS | 47 | |
| chr18:74,294,938–74,295,533 | 3.0 kb | Proximal (<10kb) | 7 | |
| chr18:74,298,665–74,298,903 | 6.7 kb | Proximal (<10kb) | 14 | |
| chr18:74,495,562–74,497,259 | 204.2 kb | Distal (>10kb) Multiome | 913 | |
| chr18:74,507,531–74,509,605 | 217.0 kb | Distal (>10kb) Multiome | 369 | |
| chr18:74,562,032–74,563,296 | 270.5 kb | Distal (>10kb) Multiome | 144 |
Genomic view of the CYB5A 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.