This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
Transcription factors with Perturb-seq knockdown data for KCNQ3. 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 = KCNQ3 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 KCNQ3, 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 |
|---|---|---|---|---|
| chr8:130,518,596–130,519,515 | 1962.1 kb | Distal (>10kb) Multiome HiCAR | 373 | |
| chr8:132,478,704–132,479,141 | 2.0 kb | Proximal (<10kb) | 128 | |
| chr8:132,479,879–132,481,822 | 61 bp | At TSS Multiome | 326 | |
| chr8:132,489,644–132,489,812 | 8.5 kb | Proximal (<10kb) | 115 | |
| chr8:132,589,830–132,590,792 | 109.2 kb | Distal (>10kb) Multiome | 70 | |
| chr8:132,625,357–132,625,870 | 144.6 kb | Distal (>10kb) Multiome | 24 | |
| chr8:132,674,976–132,676,125 | 194.4 kb | Distal (>10kb) Multiome | 678 | |
| chr8:132,774,781–132,775,966 | 294.3 kb | Distal (>10kb) Multiome | 755 |
Genomic view of the KCNQ3 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.