This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene may regulate the signaling activity of beta-catenin and is required to maintain transcription of genes that control intracellular calcium cycling including ryanodine receptor 2, ankyrin-B, triadin, and calcium channel, voltage-dependent, L type, alpha 1C. Mutations in this gene are associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy, Brugada Syndrome, and Idiopathic Ventricular Fibrillation. A processed pseudogene with high similarity to this gene has been mapped to chromosome 12p13. [provided by RefSeq, May 2022]
Transcription factors with Perturb-seq knockdown data for PKP2. 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 = PKP2 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 PKP2, 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 |
|---|---|---|---|---|
| chr12:32,678,963–32,680,020 | 217.5 kb | Distal (>10kb) Multiome | 960 | |
| chr12:32,754,967–32,756,883 | 141.5 kb | Distal (>10kb) Multiome HiCAR | 978 | |
| chr12:32,893,054–32,894,062 | 3.5 kb | Proximal (<10kb) Multiome | 249 | |
| chr12:32,895,754–32,896,025 | 772 bp | At TSS | 230 | |
| chr12:32,896,168–32,897,592 | 139 bp | At TSS Multiome | 653 | |
| chr12:33,182,169–33,183,785 | 286.0 kb | Distal (>10kb) Multiome | 136 | |
| chr12:34,022,100–34,023,125 | 1125.6 kb | Distal (>10kb) Multiome HiCAR | 645 |
Genomic view of the PKP2 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.