This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for EXT2. 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 = EXT2 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 EXT2, 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 |
|---|---|---|---|---|
| chr11:43,880,452–43,881,136 | 214.9 kb | Distal (>10kb) Multiome | 939 | |
| chr11:43,942,022–43,943,596 | 153.2 kb | Distal (>10kb) Multiome | 499 | |
| chr11:44,065,829–44,066,798 | 29.4 kb | Distal (>10kb) Multiome | 696 | |
| chr11:44,078,830–44,079,335 | 16.6 kb | Distal (>10kb) Multiome | 60 | |
| chr11:44,094,344–44,094,558 | 1.1 kb | Proximal (<10kb) | 146 | |
| chr11:44,095,519–44,096,650 | 172 bp | At TSS Multiome | 621 | |
| chr11:44,286,077–44,286,642 | 190.8 kb | Distal (>10kb) Multiome | 241 | |
| chr11:44,309,006–44,310,350 | 214.3 kb | Distal (>10kb) Multiome | 349 | |
| chr11:44,319,584–44,320,311 | 224.2 kb | Distal (>10kb) Multiome | 164 |
Genomic view of the EXT2 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.