The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for KCNQ4. 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 = KCNQ4 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 KCNQ4, 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 |
|---|---|---|---|---|
| chr1:40,508,401–40,509,160 | 275.0 kb | Distal (>10kb) Multiome | 805 | |
| chr1:40,531,425–40,532,089 | 252.2 kb | Distal (>10kb) Multiome | 724 | |
| chr1:40,665,223–40,666,079 | 118.1 kb | Distal (>10kb) Multiome | 465 | |
| chr1:40,691,236–40,692,758 | 92.0 kb | Distal (>10kb) Multiome | 1088 | |
| chr1:40,708,827–40,709,450 | 74.6 kb | Distal (>10kb) Multiome | 526 | |
| chr1:40,774,238–40,774,448 | 9.3 kb | Proximal (<10kb) | 275 | |
| chr1:40,782,482–40,782,864 | 921 bp | At TSS | 143 | |
| chr1:40,783,386–40,784,649 | 91 bp | At TSS Multiome | 448 | |
| chr1:40,802,183–40,803,007 | 18.7 kb | Distal (>10kb) Multiome | 455 | |
| chr1:40,818,171–40,819,026 | 35.0 kb | Distal (>10kb) Multiome | 236 | |
| chr1:40,861,144–40,862,924 | 78.7 kb | Distal (>10kb) Multiome | 724 | |
| chr1:40,952,369–40,952,943 | 168.9 kb | Distal (>10kb) Multiome | 442 | |
| chr1:40,978,861–40,980,635 | 195.9 kb | Distal (>10kb) Multiome | 809 | |
| chr1:41,021,596–41,022,211 | 238.1 kb | Distal (>10kb) Multiome | 181 |
Genomic view of the KCNQ4 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.