This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]
Transcription factors with Perturb-seq knockdown data for CBX2. 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 = CBX2 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 CBX2, 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 |
|---|---|---|---|---|
| chr17:79,728,494–79,729,035 | 49.5 kb | Distal (>10kb) Multiome | 187 | |
| chr17:79,741,617–79,742,395 | 36.1 kb | Distal (>10kb) Multiome | 631 | |
| chr17:79,777,217–79,777,351 | 795 bp | At TSS | 217 | |
| chr17:79,777,458–79,779,299 | 158 bp | At TSS Multiome | 754 | |
| chr17:79,789,372–79,790,442 | 11.6 kb | Distal (>10kb) Multiome | 464 | |
| chr17:79,796,576–79,798,566 | 19.1 kb | Distal (>10kb) Multiome | 897 | |
| chr17:79,800,514–79,801,509 | 22.7 kb | Distal (>10kb) Multiome | 650 | |
| chr17:79,810,019–79,810,463 | 32.1 kb | Distal (>10kb) Multiome | 392 | |
| chr17:79,813,160–79,813,861 | 35.4 kb | Distal (>10kb) Multiome | 350 | |
| chr17:79,834,107–79,837,863 | 58.1 kb | Distal (>10kb) Multiome | 885 | |
| chr17:79,838,651–79,840,856 | 61.4 kb | Distal (>10kb) Multiome | 954 | |
| chr17:79,924,070–79,924,677 | 146.3 kb | Distal (>10kb) Multiome | 279 | |
| chr17:79,926,061–79,926,673 | 148.2 kb | Distal (>10kb) Multiome | 366 | |
| chr17:79,991,451–79,992,302 | 213.7 kb | Distal (>10kb) Multiome | 655 | |
| chr17:80,008,356–80,008,965 | 230.5 kb | Distal (>10kb) Multiome | 554 | |
| chr17:80,035,332–80,037,314 | 258.8 kb | Distal (>10kb) Multiome | 852 |
Genomic view of the CBX2 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.