Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Transcription factors with Perturb-seq knockdown data for CACNA2D2. 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 = CACNA2D2 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 CACNA2D2, 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 |
|---|---|---|---|---|
| chr3:50,204,913–50,205,545 | 298.4 kb | Distal (>10kb) Multiome | 367 | |
| chr3:50,205,645–50,206,357 | 297.4 kb | Distal (>10kb) Multiome | 347 | |
| chr3:50,226,120–50,228,328 | 277.4 kb | Distal (>10kb) Multiome | 915 | |
| chr3:50,235,551–50,236,824 | 267.6 kb | Distal (>10kb) Multiome | 632 | |
| chr3:50,240,985–50,241,805 | 262.4 kb | Distal (>10kb) Multiome | 137 | |
| chr3:50,245,721–50,247,161 | 257.3 kb | Distal (>10kb) Multiome | 671 | |
| chr3:50,259,568–50,260,922 | 243.4 kb | Distal (>10kb) Multiome | 869 | |
| chr3:50,264,309–50,265,446 | 238.8 kb | Distal (>10kb) Multiome | 568 | |
| chr3:50,275,163–50,276,639 | 227.2 kb | Distal (>10kb) Multiome | 151 | |
| chr3:50,291,628–50,292,796 | 211.1 kb | Distal (>10kb) Multiome | 855 | |
| chr3:50,298,495–50,300,110 | 204.1 kb | Distal (>10kb) Multiome | 872 | |
| chr3:50,303,363–50,303,840 | 200.0 kb | Distal (>10kb) Multiome | 484 | |
| chr3:50,320,603–50,322,739 | 182.1 kb | Distal (>10kb) Multiome | 816 | |
| chr3:50,324,456–50,325,020 | 178.9 kb | Distal (>10kb) Multiome | 392 | |
| chr3:50,327,933–50,328,581 | 175.4 kb | Distal (>10kb) Multiome | 697 | |
| chr3:50,336,856–50,338,227 | 166.1 kb | Distal (>10kb) Multiome | 952 | |
| chr3:50,340,624–50,341,322 | 162.7 kb | Distal (>10kb) Multiome | 345 | |
| chr3:50,345,443–50,346,042 | 157.9 kb | Distal (>10kb) Multiome | 209 | |
| chr3:50,350,496–50,351,298 | 152.7 kb | Distal (>10kb) Multiome | 902 | |
| chr3:50,358,889–50,360,012 | 144.0 kb | Distal (>10kb) Multiome | 796 | |
| chr3:50,364,552–50,365,867 | 138.3 kb | Distal (>10kb) Multiome | 331 | |
| chr3:50,435,932–50,436,533 | 67.4 kb | Distal (>10kb) Multiome HiCAR | 248 | |
| chr3:50,502,505–50,504,160 | 49 bp | At TSS Multiome | 312 | |
| chr3:50,567,311–50,568,123 | 64.1 kb | Distal (>10kb) Multiome | 376 | |
| chr3:50,568,824–50,569,934 | 65.7 kb | Distal (>10kb) Multiome | 901 | |
| chr3:50,611,315–50,612,530 | 108.3 kb | Distal (>10kb) Multiome | 904 | |
| chr3:50,615,997–50,617,867 | 113.5 kb | Distal (>10kb) Multiome | 754 | |
| chr3:50,674,463–50,675,603 | 171.5 kb | Distal (>10kb) Multiome | 344 | |
| chr3:51,390,699–51,392,749 | 887.5 kb | Distal (>10kb) Multiome HiCAR | 824 |
Genomic view of the CACNA2D2 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.