This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for COL6A2. 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 = COL6A2 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 COL6A2, 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 |
|---|---|---|---|---|
| chr21:45,970,520–45,971,289 | 127.3 kb | Distal (>10kb) Multiome | 325 | |
| chr21:45,973,174–45,975,630 | 124.1 kb | Distal (>10kb) Multiome | 597 | |
| chr21:45,981,076–45,982,605 | 116.5 kb | Distal (>10kb) Multiome HiCAR | 580 | |
| chr21:46,097,574–46,098,972 | 21 bp | At TSS Multiome | 294 | |
| chr21:46,153,138–46,153,696 | 55.3 kb | Distal (>10kb) Multiome | 515 | |
| chr21:46,184,645–46,185,202 | 86.6 kb | Distal (>10kb) Multiome | 334 | |
| chr21:46,228,249–46,230,022 | 130.9 kb | Distal (>10kb) Multiome | 833 | |
| chr21:46,285,753–46,286,753 | 188.3 kb | Distal (>10kb) Multiome | 983 | |
| chr21:46,323,408–46,325,506 | 225.9 kb | Distal (>10kb) Multiome | 952 |
Genomic view of the COL6A2 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.