Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]
Transcription factors with Perturb-seq knockdown data for SCNN1A. 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 = SCNN1A 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 SCNN1A, 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 |
|---|---|---|---|---|
| chr12:6,124,068–6,125,228 | 250.7 kb | Distal (>10kb) Multiome | 240 | |
| chr12:6,199,391–6,201,130 | 175.2 kb | Distal (>10kb) Multiome | 481 | |
| chr12:6,214,773–6,215,509 | 160.2 kb | Distal (>10kb) Multiome | 158 | |
| chr12:6,278,466–6,279,375 | 96.6 kb | Distal (>10kb) Multiome | 655 | |
| chr12:6,310,091–6,311,512 | 64.8 kb | Distal (>10kb) Multiome | 645 | |
| chr12:6,322,926–6,323,961 | 52.0 kb | Distal (>10kb) Multiome HiCAR | 536 | |
| chr12:6,329,238–6,330,028 | 45.9 kb | Distal (>10kb) Multiome | 135 | |
| chr12:6,335,766–6,337,493 | 38.8 kb | Distal (>10kb) Multiome | 962 | |
| chr12:6,341,619–6,342,234 | 33.2 kb | Distal (>10kb) Multiome | 657 | |
| chr12:6,363,292–6,364,138 | 11.9 kb | Distal (>10kb) Multiome | 718 | |
| chr12:6,370,899–6,371,535 | 4.2 kb | Proximal (<10kb) Multiome | 572 | |
| chr12:6,375,204–6,377,302 | 40 bp | At TSS Multiome | 601 | |
| chr12:6,383,790–6,384,442 | 8.6 kb | Proximal (<10kb) Multiome HiCAR | 812 | |
| chr12:6,451,305–6,451,838 | 76.0 kb | Distal (>10kb) Multiome | 535 | |
| chr12:6,469,922–6,471,399 | 95.4 kb | Distal (>10kb) Multiome | 930 | |
| chr12:6,492,998–6,494,331 | 117.9 kb | Distal (>10kb) Multiome | 936 | |
| chr12:6,533,253–6,535,726 | 158.9 kb | Distal (>10kb) Multiome | 1131 | |
| chr12:6,539,914–6,540,883 | 165.2 kb | Distal (>10kb) Multiome | 427 | |
| chr12:6,554,111–6,554,621 | 178.9 kb | Distal (>10kb) Multiome | 407 | |
| chr12:6,555,532–6,556,318 | 180.7 kb | Distal (>10kb) Multiome | 551 | |
| chr12:6,567,822–6,568,719 | 192.9 kb | Distal (>10kb) Multiome | 837 | |
| chr12:6,605,947–6,607,790 | 232.0 kb | Distal (>10kb) Multiome | 774 | |
| chr12:6,613,155–6,614,551 | 238.7 kb | Distal (>10kb) Multiome | 810 | |
| chr12:6,620,128–6,620,868 | 245.1 kb | Distal (>10kb) Multiome | 239 | |
| chr12:6,662,802–6,663,663 | 287.8 kb | Distal (>10kb) Multiome | 868 |
Genomic view of the SCNN1A 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.