This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
Transcription factors with Perturb-seq knockdown data for ENG. 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 = ENG 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 ENG, 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 |
|---|---|---|---|---|
| chr9:127,567,936–127,569,972 | 256.4 kb | Distal (>10kb) Multiome | 660 | |
| chr9:127,608,129–127,608,913 | 217.1 kb | Distal (>10kb) Multiome | 700 | |
| chr9:127,611,734–127,612,761 | 213.4 kb | Distal (>10kb) Multiome | 566 | |
| chr9:127,699,155–127,699,632 | 126.1 kb | Distal (>10kb) Multiome | 440 | |
| chr9:127,715,013–127,716,345 | 109.8 kb | Distal (>10kb) Multiome | 735 | |
| chr9:127,734,444–127,735,606 | 90.3 kb | Distal (>10kb) Multiome | 836 | |
| chr9:127,741,739–127,743,092 | 82.8 kb | Distal (>10kb) Multiome | 367 | |
| chr9:127,754,123–127,755,506 | 70.2 kb | Distal (>10kb) Multiome | 279 | |
| chr9:127,770,807–127,771,925 | 54.1 kb | Distal (>10kb) Multiome | 550 | |
| chr9:127,784,682–127,787,009 | 39.0 kb | Distal (>10kb) Multiome | 858 | |
| chr9:127,802,385–127,803,632 | 22.7 kb | Distal (>10kb) Multiome | 867 | |
| chr9:127,809,338–127,810,272 | 15.7 kb | Distal (>10kb) Multiome | 276 | |
| chr9:127,825,222–127,826,046 | 33 bp | At TSS Multiome | 451 | |
| chr9:127,828,234–127,829,024 | 3.0 kb | Proximal (<10kb) Multiome | 521 | |
| chr9:127,877,282–127,878,202 | 52.2 kb | Distal (>10kb) Multiome | 531 | |
| chr9:127,897,316–127,897,796 | 71.9 kb | Distal (>10kb) Multiome | 437 | |
| chr9:127,898,861–127,900,094 | 74.0 kb | Distal (>10kb) Multiome | 630 | |
| chr9:127,916,386–127,917,505 | 91.5 kb | Distal (>10kb) Multiome | 474 | |
| chr9:127,926,756–127,928,574 | 101.9 kb | Distal (>10kb) Multiome | 411 | |
| chr9:127,930,321–127,931,068 | 105.2 kb | Distal (>10kb) Multiome | 537 | |
| chr9:127,937,578–127,938,244 | 112.3 kb | Distal (>10kb) Multiome | 674 | |
| chr9:127,955,445–127,955,915 | 130.0 kb | Distal (>10kb) Multiome | 540 | |
| chr9:127,980,172–127,981,966 | 155.5 kb | Distal (>10kb) Multiome | 691 | |
| chr9:128,033,544–128,034,106 | 208.3 kb | Distal (>10kb) Multiome | 69 | |
| chr9:128,034,940–128,035,527 | 209.7 kb | Distal (>10kb) Multiome | 480 | |
| chr9:128,066,577–128,068,774 | 241.8 kb | Distal (>10kb) Multiome | 874 | |
| chr9:128,097,872–128,098,910 | 272.8 kb | Distal (>10kb) Multiome | 712 | |
| chr9:128,117,658–128,118,328 | 292.3 kb | Distal (>10kb) Multiome | 640 |
Genomic view of the ENG 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.