This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for MFN2. 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 = MFN2 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 MFN2, 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 |
|---|---|---|---|---|
| chr1:11,680,428–11,681,928 | 299.1 kb | Distal (>10kb) Multiome | 820 | |
| chr1:11,682,348–11,682,757 | 297.6 kb | Distal (>10kb) Multiome | 94 | |
| chr1:11,690,815–11,692,563 | 288.6 kb | Distal (>10kb) Multiome | 361 | |
| chr1:11,735,752–11,736,686 | 244.1 kb | Distal (>10kb) Multiome | 714 | |
| chr1:11,784,926–11,785,439 | 195.0 kb | Distal (>10kb) Multiome | 531 | |
| chr1:11,802,827–11,804,002 | 176.6 kb | Distal (>10kb) Multiome | 507 | |
| chr1:11,805,133–11,806,702 | 174.2 kb | Distal (>10kb) Multiome | 1034 | |
| chr1:11,876,145–11,876,721 | 103.8 kb | Distal (>10kb) Multiome | 56 | |
| chr1:11,907,175–11,910,389 | 71.8 kb | Distal (>10kb) Multiome | 1299 | |
| chr1:11,925,969–11,926,788 | 53.8 kb | Distal (>10kb) Multiome | 632 | |
| chr1:11,934,261–11,935,008 | 45.6 kb | Distal (>10kb) Multiome | 809 | |
| chr1:11,979,601–11,980,894 | 49 bp | At TSS Multiome | 932 | |
| chr1:12,019,010–12,020,110 | 39.1 kb | Distal (>10kb) Multiome | 841 | |
| chr1:12,049,082–12,050,305 | 69.7 kb | Distal (>10kb) Multiome | 142 | |
| chr1:12,067,600–12,068,080 | 87.6 kb | Distal (>10kb) Multiome | 128 | |
| chr1:12,078,792–12,079,863 | 99.4 kb | Distal (>10kb) Multiome | 281 | |
| chr1:12,166,812–12,167,546 | 186.7 kb | Distal (>10kb) Multiome | 414 | |
| chr1:12,208,729–12,209,345 | 228.8 kb | Distal (>10kb) Multiome | 331 | |
| chr1:12,229,625–12,230,345 | 249.7 kb | Distal (>10kb) Multiome | 666 |
Genomic view of the MFN2 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.