This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for SEZ6L2. 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 = SEZ6L2 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 SEZ6L2, 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 |
|---|---|---|---|---|
| chr16:29,613,063–29,614,058 | 285.8 kb | Distal (>10kb) Multiome | 302 | |
| chr16:29,614,664–29,615,288 | 284.5 kb | Distal (>10kb) Multiome | 247 | |
| chr16:29,666,524–29,667,045 | 232.8 kb | Distal (>10kb) Multiome | 338 | |
| chr16:29,678,867–29,679,831 | 220.3 kb | Distal (>10kb) Multiome | 783 | |
| chr16:29,708,839–29,709,431 | 190.5 kb | Distal (>10kb) Multiome | 96 | |
| chr16:29,709,743–29,710,091 | 189.5 kb | Distal (>10kb) Multiome | 21 | |
| chr16:29,784,957–29,785,426 | 114.3 kb | Distal (>10kb) Multiome | 452 | |
| chr16:29,790,073–29,791,192 | 108.9 kb | Distal (>10kb) Multiome | 1003 | |
| chr16:29,804,592–29,808,172 | 93.7 kb | Distal (>10kb) Multiome | 1275 | |
| chr16:29,810,746–29,812,649 | 87.2 kb | Distal (>10kb) Multiome | 826 | |
| chr16:29,815,828–29,817,186 | 83.4 kb | Distal (>10kb) Multiome | 1006 | |
| chr16:29,862,597–29,863,901 | 36.1 kb | Distal (>10kb) Multiome | 953 | |
| chr16:29,876,281–29,878,282 | 21.9 kb | Distal (>10kb) Multiome | 319 | |
| chr16:29,899,174–29,900,833 | 49 bp | At TSS Multiome | 1019 | |
| chr16:29,925,692–29,926,784 | 26.7 kb | Distal (>10kb) Multiome | 912 | |
| chr16:29,961,477–29,962,530 | 62.4 kb | Distal (>10kb) Multiome | 848 | |
| chr16:29,973,238–29,974,906 | 74.2 kb | Distal (>10kb) Multiome | 935 | |
| chr16:29,994,888–29,996,728 | 96.6 kb | Distal (>10kb) Multiome | 1080 | |
| chr16:30,021,215–30,021,860 | 122.0 kb | Distal (>10kb) Multiome | 764 | |
| chr16:30,052,803–30,053,364 | 153.6 kb | Distal (>10kb) Multiome | 989 | |
| chr16:30,063,722–30,066,296 | 164.5 kb | Distal (>10kb) Multiome | 1209 | |
| chr16:30,075,490–30,076,439 | 176.4 kb | Distal (>10kb) Multiome | 828 | |
| chr16:30,090,881–30,092,910 | 193.3 kb | Distal (>10kb) Multiome | 1101 | |
| chr16:30,095,557–30,096,839 | 196.8 kb | Distal (>10kb) Multiome | 824 | |
| chr16:30,122,728–30,123,578 | 223.7 kb | Distal (>10kb) Multiome | 718 | |
| chr16:30,182,759–30,183,865 | 283.9 kb | Distal (>10kb) Multiome | 547 |
Genomic view of the SEZ6L2 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.