This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for KCNQ1. 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 = KCNQ1 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 KCNQ1, 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 |
|---|---|---|---|---|
| chr11:2,151,511–2,152,252 | 293.1 kb | Distal (>10kb) Multiome | 296 | |
| chr11:2,268,914–2,270,615 | 174.9 kb | Distal (>10kb) Multiome | 562 | |
| chr11:2,376,758–2,378,451 | 67.7 kb | Distal (>10kb) Multiome | 432 | |
| chr11:2,399,574–2,401,040 | 44.5 kb | Distal (>10kb) Multiome | 1060 | |
| chr11:2,420,598–2,421,164 | 24.1 kb | Distal (>10kb) Multiome | 385 | |
| chr11:2,444,173–2,445,584 | 147 bp | At TSS Multiome | 280 | |
| chr11:2,532,598–2,533,458 | 87.9 kb | Distal (>10kb) Multiome | 567 | |
| chr11:2,693,272–2,694,189 | 248.5 kb | Distal (>10kb) Multiome | 236 | |
| chr11:2,699,491–2,700,586 | 255.1 kb | Distal (>10kb) Multiome | 879 | |
| chr11:2,883,795–2,886,948 | 440.9 kb | Distal (>10kb) Multiome HiCAR | 639 | |
| chr11:2,891,828–2,893,111 | 447.5 kb | Distal (>10kb) Multiome HiCAR | 572 |
Genomic view of the KCNQ1 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.