This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017]
Transcription factors with Perturb-seq knockdown data for NSMCE2. 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 = NSMCE2 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 NSMCE2, 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 |
|---|---|---|---|---|
| chr8:124,830,627–124,831,574 | 260.8 kb | Distal (>10kb) Multiome | 135 | |
| chr8:124,908,848–124,909,459 | 182.7 kb | Distal (>10kb) Multiome | 23 | |
| chr8:124,963,890–124,964,452 | 127.8 kb | Distal (>10kb) Multiome | 165 | |
| chr8:124,973,135–124,973,609 | 118.6 kb | Distal (>10kb) Multiome | 684 | |
| chr8:124,997,595–124,999,115 | 93.5 kb | Distal (>10kb) Multiome | 836 | |
| chr8:125,091,367–125,092,149 | 133 bp | At TSS Multiome | 874 | |
| chr8:125,333,917–125,334,658 | 242.5 kb | Distal (>10kb) Multiome | 599 | |
| chr8:125,386,297–125,387,506 | 295.1 kb | Distal (>10kb) Multiome | 453 | |
| chr8:125,388,382–125,388,991 | 296.8 kb | Distal (>10kb) Multiome | 153 | |
| chr8:125,429,082–125,432,504 | 338.2 kb | Distal (>10kb) Multiome HiCAR | 1185 | |
| chr8:125,540,867–125,541,751 | 449.4 kb | Distal (>10kb) Multiome HiCAR | 267 | |
| chr8:125,548,995–125,549,682 | 457.4 kb | Distal (>10kb) Multiome HiCAR | 19 |
Genomic view of the NSMCE2 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.