The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for OPA3. 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 = OPA3 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 OPA3, 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 |
|---|---|---|---|---|
| chr19:45,340,431–45,341,201 | 244.0 kb | Distal (>10kb) Multiome | 363 | |
| chr19:45,370,064–45,371,122 | 214.1 kb | Distal (>10kb) Multiome | 592 | |
| chr19:45,402,280–45,402,828 | 182.3 kb | Distal (>10kb) Multiome | 332 | |
| chr19:45,403,781–45,404,684 | 180.8 kb | Distal (>10kb) Multiome | 494 | |
| chr19:45,404,818–45,406,887 | 178.3 kb | Distal (>10kb) Multiome | 964 | |
| chr19:45,423,326–45,424,545 | 161.1 kb | Distal (>10kb) Multiome | 996 | |
| chr19:45,439,539–45,440,189 | 145.0 kb | Distal (>10kb) Multiome | 718 | |
| chr19:45,443,052–45,444,768 | 141.3 kb | Distal (>10kb) Multiome | 857 | |
| chr19:45,450,695–45,451,265 | 133.9 kb | Distal (>10kb) Multiome | 515 | |
| chr19:45,455,706–45,456,201 | 128.8 kb | Distal (>10kb) Multiome | 776 | |
| chr19:45,467,169–45,468,696 | 117.1 kb | Distal (>10kb) Multiome | 686 | |
| chr19:45,468,843–45,470,312 | 115.4 kb | Distal (>10kb) Multiome | 769 | |
| chr19:45,478,416–45,479,276 | 106.0 kb | Distal (>10kb) Multiome | 809 | |
| chr19:45,485,144–45,486,070 | 99.3 kb | Distal (>10kb) Multiome | 659 | |
| chr19:45,492,647–45,493,344 | 91.9 kb | Distal (>10kb) Multiome | 522 | |
| chr19:45,496,247–45,497,677 | 87.8 kb | Distal (>10kb) Multiome | 742 | |
| chr19:45,498,270–45,499,916 | 85.2 kb | Distal (>10kb) Multiome | 464 | |
| chr19:45,506,243–45,507,963 | 78.1 kb | Distal (>10kb) Multiome | 969 | |
| chr19:45,508,291–45,509,751 | 76.2 kb | Distal (>10kb) Multiome | 670 | |
| chr19:45,528,315–45,529,353 | 55.9 kb | Distal (>10kb) Multiome | 425 | |
| chr19:45,584,026–45,585,251 | 149 bp | At TSS Multiome | 907 | |
| chr19:45,590,997–45,591,229 | 6.2 kb | Proximal (<10kb) | 563 | |
| chr19:45,607,096–45,607,695 | 22.6 kb | Distal (>10kb) Multiome | 526 | |
| chr19:45,615,654–45,616,944 | 31.3 kb | Distal (>10kb) Multiome | 480 | |
| chr19:45,632,406–45,633,148 | 47.9 kb | Distal (>10kb) Multiome | 358 | |
| chr19:45,638,965–45,639,696 | 54.5 kb | Distal (>10kb) Multiome | 477 | |
| chr19:45,640,813–45,642,557 | 57.5 kb | Distal (>10kb) Multiome | 865 | |
| chr19:45,643,187–45,644,012 | 58.8 kb | Distal (>10kb) Multiome | 542 | |
| chr19:45,645,389–45,646,343 | 61.1 kb | Distal (>10kb) Multiome | 566 | |
| chr19:45,667,856–45,668,417 | 83.2 kb | Distal (>10kb) Multiome | 386 | |
| chr19:45,668,914–45,669,719 | 84.6 kb | Distal (>10kb) Multiome | 611 | |
| chr19:45,670,481–45,671,446 | 86.2 kb | Distal (>10kb) Multiome | 361 | |
| chr19:45,676,875–45,678,209 | 92.7 kb | Distal (>10kb) Multiome | 418 | |
| chr19:45,681,530–45,682,004 | 96.9 kb | Distal (>10kb) Multiome | 648 | |
| chr19:45,691,622–45,693,062 | 107.6 kb | Distal (>10kb) Multiome | 943 | |
| chr19:45,716,851–45,718,343 | 132.7 kb | Distal (>10kb) Multiome | 895 | |
| chr19:45,730,200–45,731,219 | 146.2 kb | Distal (>10kb) Multiome | 740 | |
| chr19:45,767,223–45,771,892 | 184.6 kb | Distal (>10kb) Multiome | 1161 | |
| chr19:45,779,258–45,780,150 | 194.8 kb | Distal (>10kb) Multiome | 445 | |
| chr19:45,792,338–45,793,273 | 208.1 kb | Distal (>10kb) Multiome | 609 | |
| chr19:45,815,484–45,818,073 | 231.1 kb | Distal (>10kb) Multiome | 623 | |
| chr19:45,862,559–45,864,765 | 279.6 kb | Distal (>10kb) Multiome | 976 | |
| chr19:45,881,480–45,883,645 | 297.3 kb | Distal (>10kb) Multiome | 990 |
Genomic view of the OPA3 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.