This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for AFG3L2. 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 = AFG3L2 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 AFG3L2, 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 |
|---|---|---|---|---|
| chr18:12,253,776–12,254,799 | 122.9 kb | Distal (>10kb) Multiome | 162 | |
| chr18:12,271,329–12,272,193 | 105.4 kb | Distal (>10kb) Multiome | 601 | |
| chr18:12,287,265–12,288,653 | 89.7 kb | Distal (>10kb) Multiome | 353 | |
| chr18:12,288,796–12,289,337 | 88.2 kb | Distal (>10kb) Multiome | 159 | |
| chr18:12,307,278–12,309,118 | 69.0 kb | Distal (>10kb) Multiome | 646 | |
| chr18:12,376,065–12,378,406 | 239 bp | At TSS Multiome | 1012 | |
| chr18:12,407,513–12,408,521 | 30.7 kb | Distal (>10kb) Multiome | 637 | |
| chr18:12,419,774–12,420,625 | 42.9 kb | Distal (>10kb) Multiome | 579 | |
| chr18:12,420,869–12,421,324 | 43.9 kb | Distal (>10kb) Multiome | 417 | |
| chr18:12,657,070–12,658,817 | 280.9 kb | Distal (>10kb) Multiome HiCAR | 689 |
Genomic view of the AFG3L2 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.