This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Transcription factors with Perturb-seq knockdown data for PRRT2. 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 = PRRT2 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 PRRT2, 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 |
|---|---|---|---|---|
| chr16:29,594,581–29,595,807 | 216.8 kb | Distal (>10kb) Multiome | 486 | |
| chr16:29,613,063–29,614,058 | 198.5 kb | Distal (>10kb) Multiome | 302 | |
| chr16:29,614,664–29,615,288 | 197.2 kb | Distal (>10kb) Multiome | 247 | |
| chr16:29,666,524–29,667,045 | 145.4 kb | Distal (>10kb) Multiome | 338 | |
| chr16:29,678,867–29,679,831 | 132.9 kb | Distal (>10kb) Multiome | 783 | |
| chr16:29,708,839–29,709,431 | 103.1 kb | Distal (>10kb) Multiome | 96 | |
| chr16:29,709,743–29,710,091 | 102.2 kb | Distal (>10kb) Multiome | 21 | |
| chr16:29,784,957–29,785,426 | 26.9 kb | Distal (>10kb) Multiome | 452 | |
| chr16:29,790,073–29,791,192 | 21.6 kb | Distal (>10kb) Multiome | 1003 | |
| chr16:29,804,592–29,808,172 | 6.4 kb | Proximal (<10kb) Multiome | 1275 | |
| chr16:29,810,746–29,812,649 | 197 bp | At TSS Multiome | 826 | |
| chr16:29,815,828–29,817,186 | 4.0 kb | Proximal (<10kb) Multiome | 1006 | |
| chr16:29,862,597–29,863,901 | 51.3 kb | Distal (>10kb) Multiome | 953 | |
| chr16:29,876,281–29,878,282 | 65.5 kb | Distal (>10kb) Multiome | 319 | |
| chr16:29,899,174–29,900,833 | 87.3 kb | Distal (>10kb) Multiome | 1019 | |
| chr16:29,925,692–29,926,784 | 114.1 kb | Distal (>10kb) Multiome | 912 | |
| chr16:29,961,477–29,962,530 | 149.8 kb | Distal (>10kb) Multiome | 848 | |
| chr16:29,973,238–29,974,906 | 161.5 kb | Distal (>10kb) Multiome | 935 | |
| chr16:29,994,888–29,996,728 | 184.0 kb | Distal (>10kb) Multiome | 1080 | |
| chr16:30,021,215–30,021,860 | 209.4 kb | Distal (>10kb) Multiome HiCAR | 764 | |
| chr16:30,052,803–30,053,364 | 240.9 kb | Distal (>10kb) Multiome | 989 | |
| chr16:30,063,722–30,066,296 | 251.9 kb | Distal (>10kb) Multiome | 1209 | |
| chr16:30,075,490–30,076,439 | 263.8 kb | Distal (>10kb) Multiome | 828 | |
| chr16:30,090,881–30,092,910 | 280.7 kb | Distal (>10kb) Multiome | 1101 | |
| chr16:30,095,557–30,096,839 | 284.2 kb | Distal (>10kb) Multiome | 824 |
Genomic view of the PRRT2 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.