This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for SCN8A. 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 = SCN8A 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 SCN8A, 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 |
|---|---|---|---|---|
| chr12:51,320,220–51,321,248 | 270.3 kb | Distal (>10kb) Multiome | 315 | |
| chr12:51,371,336–51,371,863 | 219.6 kb | Distal (>10kb) Multiome | 431 | |
| chr12:51,390,937–51,392,088 | 199.7 kb | Distal (>10kb) Multiome | 504 | |
| chr12:51,395,449–51,396,000 | 195.5 kb | Distal (>10kb) Multiome | 274 | |
| chr12:51,424,595–51,425,524 | 166.3 kb | Distal (>10kb) Multiome HiCAR | 499 | |
| chr12:51,590,353–51,591,928 | 182 bp | At TSS Multiome | 596 | |
| chr12:51,777,271–51,777,860 | 186.4 kb | Distal (>10kb) Multiome | 91 | |
| chr12:51,813,977–51,815,076 | 223.2 kb | Distal (>10kb) Multiome | 486 | |
| chr12:51,820,355–51,822,541 | 229.8 kb | Distal (>10kb) Multiome | 412 | |
| chr12:51,846,754–51,849,656 | 255.9 kb | Distal (>10kb) Multiome | 440 | |
| chr12:51,863,484–51,864,666 | 273.0 kb | Distal (>10kb) Multiome | 326 | |
| chr12:51,887,921–51,888,408 | 296.9 kb | Distal (>10kb) Multiome | 151 |
Genomic view of the SCN8A 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.