This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for NSD2. 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 = NSD2 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 NSD2, 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 |
|---|---|---|---|---|
| chr4:1,578,390–1,579,916 | 292.2 kb | Distal (>10kb) Multiome | 472 | |
| chr4:1,580,022–1,580,836 | 290.8 kb | Distal (>10kb) Multiome | 412 | |
| chr4:1,683,721–1,685,162 | 187.0 kb | Distal (>10kb) Multiome | 624 | |
| chr4:1,711,443–1,713,255 | 158.9 kb | Distal (>10kb) Multiome | 1043 | |
| chr4:1,720,066–1,721,937 | 150.1 kb | Distal (>10kb) Multiome | 817 | |
| chr4:1,746,068–1,746,713 | 125.1 kb | Distal (>10kb) Multiome | 499 | |
| chr4:1,748,435–1,748,986 | 122.6 kb | Distal (>10kb) Multiome | 420 | |
| chr4:1,766,230–1,768,653 | 104.1 kb | Distal (>10kb) Multiome | 781 | |
| chr4:1,792,302–1,795,939 | 78.2 kb | Distal (>10kb) Multiome | 784 | |
| chr4:1,809,836–1,810,515 | 61.3 kb | Distal (>10kb) Multiome | 554 | |
| chr4:1,855,368–1,857,225 | 15.1 kb | Distal (>10kb) Multiome | 849 | |
| chr4:1,870,118–1,872,300 | 312 bp | At TSS Multiome HiCAR | 962 | |
| chr4:2,008,507–2,010,125 | 137.8 kb | Distal (>10kb) Multiome | 1040 | |
| chr4:2,041,030–2,042,663 | 170.6 kb | Distal (>10kb) Multiome | 554 | |
| chr4:2,058,181–2,059,492 | 187.8 kb | Distal (>10kb) Multiome | 367 | |
| chr4:2,060,701–2,061,398 | 189.6 kb | Distal (>10kb) Multiome | 197 |
Genomic view of the NSD2 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.