This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Transcription factors with Perturb-seq knockdown data for ADAMTS2. 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 = ADAMTS2 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 ADAMTS2, 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 |
|---|---|---|---|---|
| chr5:179,060,130–179,060,668 | 285.1 kb | Distal (>10kb) Multiome | 376 | |
| chr5:179,343,699–179,345,989 | 1.3 kb | Proximal (<10kb) Multiome | 321 | |
| chr5:179,530,398–179,530,934 | 185.2 kb | Distal (>10kb) Multiome | 322 | |
| chr5:179,549,624–179,551,424 | 205.4 kb | Distal (>10kb) Multiome | 799 | |
| chr5:179,559,012–179,560,188 | 214.2 kb | Distal (>10kb) Multiome | 624 | |
| chr5:179,622,406–179,625,135 | 278.4 kb | Distal (>10kb) Multiome | 1217 |
Genomic view of the ADAMTS2 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.