This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Transcription factors with Perturb-seq knockdown data for JPH4. 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 = JPH4 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 JPH4, 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 |
|---|---|---|---|---|
| chr14:23,285,641–23,286,830 | 292.6 kb | Distal (>10kb) Multiome | 962 | |
| chr14:23,300,944–23,303,002 | 277.0 kb | Distal (>10kb) Multiome | 1096 | |
| chr14:23,306,324–23,307,321 | 272.0 kb | Distal (>10kb) Multiome | 871 | |
| chr14:23,320,558–23,322,196 | 257.6 kb | Distal (>10kb) Multiome | 1090 | |
| chr14:23,351,817–23,353,063 | 226.0 kb | Distal (>10kb) Multiome | 403 | |
| chr14:23,364,202–23,367,105 | 212.3 kb | Distal (>10kb) Multiome | 353 | |
| chr14:23,468,966–23,469,987 | 109.3 kb | Distal (>10kb) Multiome | 955 | |
| chr14:23,537,253–23,538,372 | 41.2 kb | Distal (>10kb) Multiome | 160 | |
| chr14:23,544,507–23,545,444 | 34.0 kb | Distal (>10kb) Multiome | 308 | |
| chr14:23,550,782–23,552,258 | 27.1 kb | Distal (>10kb) Multiome | 826 | |
| chr14:23,555,640–23,556,485 | 22.8 kb | Distal (>10kb) Multiome | 983 | |
| chr14:23,567,065–23,567,976 | 11.1 kb | Distal (>10kb) Multiome | 855 | |
| chr14:23,568,814–23,569,020 | 9.8 kb | Proximal (<10kb) | 202 | |
| chr14:23,575,776–23,576,501 | 2.6 kb | Proximal (<10kb) Multiome | 163 | |
| chr14:23,589,018–23,589,481 | 10.4 kb | Distal (>10kb) Multiome | 770 |
Genomic view of the JPH4 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.