Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
Transcription factors with Perturb-seq knockdown data for JPH3. 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 = JPH3 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 JPH3, 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 |
|---|---|---|---|---|
| chr16:87,305,529–87,306,047 | 296.7 kb | Distal (>10kb) Multiome | 282 | |
| chr16:87,316,905–87,317,759 | 285.1 kb | Distal (>10kb) Multiome | 945 | |
| chr16:87,382,568–87,384,888 | 218.6 kb | Distal (>10kb) Multiome | 1122 | |
| chr16:87,388,081–87,388,660 | 214.1 kb | Distal (>10kb) Multiome | 794 | |
| chr16:87,391,244–87,393,452 | 210.3 kb | Distal (>10kb) Multiome | 1038 | |
| chr16:87,492,670–87,493,484 | 109.4 kb | Distal (>10kb) Multiome | 652 | |
| chr16:87,601,726–87,602,537 | 214 bp | At TSS Multiome | 217 | |
| chr16:87,602,709–87,603,594 | 875 bp | At TSS | 188 | |
| chr16:87,765,695–87,766,281 | 163.5 kb | Distal (>10kb) Multiome | 846 | |
| chr16:87,777,440–87,778,323 | 175.4 kb | Distal (>10kb) Multiome | 751 | |
| chr16:87,778,885–87,779,577 | 176.8 kb | Distal (>10kb) Multiome | 990 | |
| chr16:87,868,765–87,870,102 | 267.0 kb | Distal (>10kb) Multiome | 674 | |
| chr16:87,870,439–87,871,185 | 268.4 kb | Distal (>10kb) Multiome | 528 |
Genomic view of the JPH3 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.