This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]
Transcription factors with Perturb-seq knockdown data for TPCN2. 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 = TPCN2 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 TPCN2, 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 |
|---|---|---|---|---|
| chr11:68,749,819–68,752,106 | 297.4 kb | Distal (>10kb) Multiome | 601 | |
| chr11:68,839,165–68,839,925 | 209.5 kb | Distal (>10kb) Multiome | 821 | |
| chr11:68,840,765–68,842,245 | 207.0 kb | Distal (>10kb) Multiome | 567 | |
| chr11:68,843,712–68,844,382 | 204.9 kb | Distal (>10kb) Multiome | 675 | |
| chr11:68,855,267–68,855,945 | 193.4 kb | Distal (>10kb) Multiome | 230 | |
| chr11:68,879,344–68,879,843 | 169.4 kb | Distal (>10kb) Multiome | 69 | |
| chr11:68,903,762–68,904,282 | 145.0 kb | Distal (>10kb) Multiome | 1004 | |
| chr11:69,010,998–69,011,634 | 37.7 kb | Distal (>10kb) Multiome | 255 | |
| chr11:69,013,121–69,013,629 | 35.4 kb | Distal (>10kb) Multiome | 143 | |
| chr11:69,048,479–69,049,470 | 61 bp | At TSS Multiome | 583 | |
| chr11:69,122,768–69,123,396 | 74.1 kb | Distal (>10kb) Multiome | 565 | |
| chr11:70,202,749–70,203,803 | 1154.3 kb | Distal (>10kb) Multiome HiCAR | 782 |
Genomic view of the TPCN2 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.