This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Transcription factors with Perturb-seq knockdown data for COX20. 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 = COX20 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 COX20, 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 |
|---|---|---|---|---|
| chr1:244,651,947–244,654,106 | 182.7 kb | Distal (>10kb) Multiome HiCAR | 921 | |
| chr1:244,730,143–244,731,325 | 104.9 kb | Distal (>10kb) Multiome | 295 | |
| chr1:244,815,498–244,816,101 | 19.9 kb | Distal (>10kb) Multiome | 177 | |
| chr1:244,833,808–244,836,513 | 294 bp | At TSS Multiome | 1226 | |
| chr1:244,862,633–244,865,438 | 29.0 kb | Distal (>10kb) Multiome | 1124 | |
| chr1:244,969,529–244,971,459 | 135.0 kb | Distal (>10kb) Multiome | 1136 | |
| chr1:245,051,083–245,052,207 | 216.1 kb | Distal (>10kb) Multiome | 353 | |
| chr1:245,093,040–245,095,301 | 258.7 kb | Distal (>10kb) Multiome | 322 |
Genomic view of the COX20 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.