This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]
Transcription factors with Perturb-seq knockdown data for ATP2A2. 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 = ATP2A2 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 ATP2A2, 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 |
|---|---|---|---|---|
| chr12:109,995,726–109,996,660 | 285.0 kb | Distal (>10kb) Multiome | 811 | |
| chr12:109,998,999–109,999,838 | 282.0 kb | Distal (>10kb) Multiome | 883 | |
| chr12:110,048,083–110,048,797 | 232.7 kb | Distal (>10kb) Multiome | 921 | |
| chr12:110,107,883–110,108,523 | 173.1 kb | Distal (>10kb) Multiome HiCAR | 171 | |
| chr12:110,123,690–110,124,996 | 156.9 kb | Distal (>10kb) Multiome | 704 | |
| chr12:110,223,831–110,224,526 | 57.2 kb | Distal (>10kb) Multiome HiCAR | 199 | |
| chr12:110,280,425–110,282,158 | 53 bp | At TSS Multiome | 888 | |
| chr12:110,288,867–110,289,237 | 7.6 kb | Proximal (<10kb) | 72 | |
| chr12:110,403,190–110,403,822 | 122.5 kb | Distal (>10kb) Multiome | 779 | |
| chr12:110,431,453–110,431,925 | 150.4 kb | Distal (>10kb) Multiome | 461 | |
| chr12:110,449,732–110,450,544 | 169.0 kb | Distal (>10kb) Multiome | 883 | |
| chr12:110,468,018–110,469,597 | 188.1 kb | Distal (>10kb) Multiome | 1093 | |
| chr12:110,501,642–110,502,585 | 220.9 kb | Distal (>10kb) Multiome | 1115 |
Genomic view of the ATP2A2 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.