This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ATPAF2. 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 = ATPAF2 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 ATPAF2, 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 |
|---|---|---|---|---|
| chr17:17,751,962–17,752,874 | 286.8 kb | Distal (>10kb) Multiome | 640 | |
| chr17:17,780,889–17,783,985 | 258.0 kb | Distal (>10kb) Multiome | 655 | |
| chr17:17,792,432–17,793,087 | 246.3 kb | Distal (>10kb) Multiome | 135 | |
| chr17:17,809,458–17,811,066 | 229.1 kb | Distal (>10kb) Multiome | 371 | |
| chr17:17,811,471–17,812,921 | 226.7 kb | Distal (>10kb) Multiome | 664 | |
| chr17:17,823,156–17,824,542 | 215.4 kb | Distal (>10kb) Multiome | 743 | |
| chr17:17,835,765–17,838,695 | 202.8 kb | Distal (>10kb) Multiome | 1030 | |
| chr17:17,839,788–17,841,046 | 198.9 kb | Distal (>10kb) Multiome | 927 | |
| chr17:17,921,363–17,921,988 | 117.5 kb | Distal (>10kb) Multiome | 341 | |
| chr17:17,943,271–17,943,954 | 95.6 kb | Distal (>10kb) Multiome | 143 | |
| chr17:17,971,984–17,973,164 | 66.5 kb | Distal (>10kb) Multiome | 716 | |
| chr17:18,033,570–18,033,778 | 5.4 kb | Proximal (<10kb) | 291 | |
| chr17:18,035,659–18,036,594 | 3.1 kb | Proximal (<10kb) Multiome | 186 | |
| chr17:18,038,656–18,040,279 | 150 bp | At TSS Multiome | 839 | |
| chr17:18,153,365–18,154,352 | 114.8 kb | Distal (>10kb) Multiome | 244 | |
| chr17:18,157,790–18,158,725 | 119.0 kb | Distal (>10kb) Multiome | 292 | |
| chr17:18,182,585–18,185,065 | 144.3 kb | Distal (>10kb) Multiome | 1051 | |
| chr17:18,224,148–18,226,173 | 185.5 kb | Distal (>10kb) Multiome | 680 | |
| chr17:18,246,777–18,247,912 | 208.1 kb | Distal (>10kb) Multiome | 314 | |
| chr17:18,257,865–18,259,083 | 219.5 kb | Distal (>10kb) Multiome | 684 | |
| chr17:18,260,145–18,261,582 | 221.5 kb | Distal (>10kb) Multiome | 778 | |
| chr17:18,314,513–18,315,715 | 276.0 kb | Distal (>10kb) Multiome | 865 |
Genomic view of the ATPAF2 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.