This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. 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 DNAAF2. 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 = DNAAF2 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 DNAAF2, 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 |
|---|---|---|---|---|
| chr14:49,366,267–49,367,349 | 268.5 kb | Distal (>10kb) Multiome | 117 | |
| chr14:49,585,877–49,587,282 | 48.7 kb | Distal (>10kb) Multiome | 966 | |
| chr14:49,598,179–49,599,418 | 36.4 kb | Distal (>10kb) Multiome | 967 | |
| chr14:49,620,144–49,621,897 | 14.5 kb | Distal (>10kb) Multiome | 930 | |
| chr14:49,633,485–49,635,896 | 865 bp | At TSS Multiome | 1040 | |
| chr14:49,641,716–49,642,083 | 6.5 kb | Proximal (<10kb) | 427 | |
| chr14:49,687,569–49,688,718 | 53.0 kb | Distal (>10kb) Multiome | 843 | |
| chr14:49,692,914–49,693,633 | 58.1 kb | Distal (>10kb) Multiome | 764 | |
| chr14:49,767,430–49,769,102 | 132.8 kb | Distal (>10kb) Multiome | 899 | |
| chr14:49,852,270–49,853,410 | 217.6 kb | Distal (>10kb) Multiome HiCAR | 813 | |
| chr14:49,853,662–49,854,089 | 218.8 kb | Distal (>10kb) Multiome HiCAR | 439 | |
| chr14:49,861,592–49,863,464 | 227.7 kb | Distal (>10kb) Multiome | 1038 | |
| chr14:49,867,745–49,868,682 | 233.0 kb | Distal (>10kb) Multiome | 699 | |
| chr14:49,892,363–49,894,019 | 257.7 kb | Distal (>10kb) Multiome | 981 |
Genomic view of the DNAAF2 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.