This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
Transcription factors with Perturb-seq knockdown data for ATP13A2. 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 = ATP13A2 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 ATP13A2, 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 |
|---|---|---|---|---|
| chr1:16,644,020–16,645,162 | 367.2 kb | Distal (>10kb) Multiome HiCAR | 979 | |
| chr1:16,727,237–16,727,897 | 284.5 kb | Distal (>10kb) Multiome | 430 | |
| chr1:16,872,473–16,872,975 | 139.3 kb | Distal (>10kb) Multiome | 52 | |
| chr1:16,888,814–16,889,966 | 122.4 kb | Distal (>10kb) Multiome | 224 | |
| chr1:16,895,953–16,897,630 | 115.6 kb | Distal (>10kb) Multiome | 749 | |
| chr1:16,903,833–16,905,921 | 106.8 kb | Distal (>10kb) Multiome | 1065 | |
| chr1:16,913,177–16,914,707 | 97.9 kb | Distal (>10kb) Multiome | 712 | |
| chr1:16,921,360–16,922,846 | 90.1 kb | Distal (>10kb) Multiome | 315 | |
| chr1:16,938,744–16,939,855 | 72.6 kb | Distal (>10kb) Multiome | 81 | |
| chr1:16,960,652–16,961,242 | 51.0 kb | Distal (>10kb) Multiome | 417 | |
| chr1:16,980,463–16,980,871 | 31.3 kb | Distal (>10kb) Multiome | 187 | |
| chr1:17,011,200–17,012,363 | 41 bp | At TSS Multiome | 573 | |
| chr1:17,053,525–17,054,572 | 42.2 kb | Distal (>10kb) Multiome | 770 | |
| chr1:17,119,233–17,119,812 | 107.6 kb | Distal (>10kb) Multiome | 289 |
Genomic view of the ATP13A2 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.