This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ERBB2. 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 = ERBB2 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 ERBB2, 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 |
|---|---|---|---|---|
| chr17:39,400,997–39,402,766 | 297.4 kb | Distal (>10kb) Multiome | 898 | |
| chr17:39,450,919–39,451,504 | 248.7 kb | Distal (>10kb) Multiome | 722 | |
| chr17:39,461,043–39,462,217 | 238.5 kb | Distal (>10kb) Multiome | 1026 | |
| chr17:39,573,453–39,574,243 | 126.2 kb | Distal (>10kb) Multiome | 520 | |
| chr17:39,636,769–39,637,600 | 62.9 kb | Distal (>10kb) Multiome | 853 | |
| chr17:39,652,588–39,653,348 | 47.0 kb | Distal (>10kb) Multiome | 263 | |
| chr17:39,668,234–39,668,690 | 31.5 kb | Distal (>10kb) Multiome | 706 | |
| chr17:39,687,710–39,688,437 | 12.0 kb | Distal (>10kb) Multiome | 800 | |
| chr17:39,695,905–39,696,636 | 3.7 kb | Proximal (<10kb) Multiome | 499 | |
| chr17:39,699,516–39,700,527 | 90 bp | At TSS Multiome | 528 | |
| chr17:39,730,039–39,730,906 | 30.5 kb | Distal (>10kb) Multiome | 886 | |
| chr17:39,739,067–39,739,915 | 39.5 kb | Distal (>10kb) Multiome | 648 | |
| chr17:39,740,384–39,740,910 | 40.7 kb | Distal (>10kb) Multiome | 513 | |
| chr17:39,753,811–39,754,996 | 54.4 kb | Distal (>10kb) Multiome | 1000 | |
| chr17:39,926,716–39,928,343 | 227.7 kb | Distal (>10kb) Multiome | 942 | |
| chr17:39,952,356–39,953,923 | 253.1 kb | Distal (>10kb) Multiome | 598 | |
| chr17:39,979,964–39,981,234 | 280.6 kb | Distal (>10kb) Multiome | 1148 |
Genomic view of the ERBB2 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.