This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]
Transcription factors with Perturb-seq knockdown data for CACNB4. 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 = CACNB4 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 CACNB4, 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 |
|---|---|---|---|---|
| chr2:151,827,563–151,829,025 | 270.6 kb | Distal (>10kb) Multiome | 918 | |
| chr2:151,947,105–151,947,762 | 151.6 kb | Distal (>10kb) Multiome | 177 | |
| chr2:152,042,296–152,043,510 | 56.1 kb | Distal (>10kb) Multiome | 242 | |
| chr2:152,055,231–152,056,165 | 43.4 kb | Distal (>10kb) Multiome | 199 | |
| chr2:152,097,676–152,099,753 | 58 bp | At TSS Multiome | 496 | |
| chr2:152,175,135–152,176,549 | 76.8 kb | Distal (>10kb) Multiome | 1112 | |
| chr2:152,334,897–152,336,898 | 236.2 kb | Distal (>10kb) Multiome | 886 |
Genomic view of the CACNB4 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.