Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for SCN4A. 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 = SCN4A 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 SCN4A, 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 |
|---|---|---|---|---|
| chr17:63,698,705–63,701,428 | 261.6 kb | Distal (>10kb) Multiome | 663 | |
| chr17:63,741,119–63,742,935 | 219.8 kb | Distal (>10kb) Multiome | 1057 | |
| chr17:63,773,179–63,774,727 | 187.9 kb | Distal (>10kb) Multiome | 1169 | |
| chr17:63,826,794–63,828,024 | 134.3 kb | Distal (>10kb) Multiome | 1008 | |
| chr17:63,841,547–63,843,442 | 118.7 kb | Distal (>10kb) Multiome | 1203 | |
| chr17:63,848,836–63,849,566 | 112.5 kb | Distal (>10kb) Multiome | 658 | |
| chr17:63,960,119–63,962,604 | 169 bp | At TSS Multiome | 445 | |
| chr17:63,998,051–63,998,826 | 36.7 kb | Distal (>10kb) Multiome | 408 | |
| chr17:64,129,318–64,130,921 | 168.6 kb | Distal (>10kb) Multiome | 978 | |
| chr17:64,145,473–64,147,600 | 184.2 kb | Distal (>10kb) Multiome | 1196 |
Genomic view of the SCN4A 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.