One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]
Transcription factors with Perturb-seq knockdown data for TOR1AIP2. 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 = TOR1AIP2 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 TOR1AIP2, 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 |
|---|---|---|---|---|
| chr1:179,586,188–179,586,937 | 291.3 kb | Distal (>10kb) Multiome | 413 | |
| chr1:179,591,348–179,592,445 | 285.9 kb | Distal (>10kb) Multiome | 401 | |
| chr1:179,702,681–179,703,716 | 174.6 kb | Distal (>10kb) Multiome | 163 | |
| chr1:179,742,680–179,744,798 | 134.6 kb | Distal (>10kb) Multiome | 322 | |
| chr1:179,788,146–179,788,608 | 89.3 kb | Distal (>10kb) Multiome | 55 | |
| chr1:179,814,386–179,815,656 | 62.8 kb | Distal (>10kb) Multiome | 543 | |
| chr1:179,867,828–179,868,027 | 9.8 kb | Proximal (<10kb) | 133 | |
| chr1:179,877,712–179,878,194 | 70 bp | At TSS Multiome | 604 | |
| chr1:179,881,882–179,883,626 | 4.9 kb | Proximal (<10kb) Multiome | 1162 | |
| chr1:179,883,888–179,884,046 | 6.1 kb | Proximal (<10kb) | 86 | |
| chr1:179,954,005–179,955,565 | 76.9 kb | Distal (>10kb) Multiome | 988 | |
| chr1:180,154,067–180,155,804 | 277.0 kb | Distal (>10kb) Multiome | 774 | |
| chr1:180,167,793–180,168,531 | 290.4 kb | Distal (>10kb) Multiome | 388 |
Genomic view of the TOR1AIP2 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.