This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]
Transcription factors with Perturb-seq knockdown data for ANK2. 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 = ANK2 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 ANK2, 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 |
|---|---|---|---|---|
| chr4:112,522,782–112,524,704 | 293.9 kb | Distal (>10kb) Multiome | 638 | |
| chr4:112,636,483–112,637,927 | 180.9 kb | Distal (>10kb) Multiome | 891 | |
| chr4:112,642,445–112,646,414 | 172.3 kb | Distal (>10kb) Multiome | 296 | |
| chr4:112,647,946–112,649,404 | 169.1 kb | Distal (>10kb) Multiome | 235 | |
| chr4:112,706,097–112,706,856 | 111.6 kb | Distal (>10kb) Multiome | 313 | |
| chr4:112,746,884–112,747,846 | 70.8 kb | Distal (>10kb) Multiome | 275 | |
| chr4:112,751,041–112,752,361 | 66.4 kb | Distal (>10kb) Multiome | 200 | |
| chr4:112,759,125–112,759,682 | 58.5 kb | Distal (>10kb) Multiome | 195 | |
| chr4:112,817,726–112,818,715 | 174 bp | At TSS Multiome | 463 | |
| chr4:112,854,045–112,854,900 | 36.5 kb | Distal (>10kb) Multiome | 101 | |
| chr4:112,860,814–112,861,553 | 43.1 kb | Distal (>10kb) Multiome | 167 | |
| chr4:112,979,338–112,980,523 | 161.9 kb | Distal (>10kb) Multiome | 216 | |
| chr4:113,049,294–113,049,716 | at TSS | At TSS | 124 | |
| chr4:113,060,795–113,061,325 | 243.0 kb | Distal (>10kb) Multiome | 153 | |
| chr4:113,064,101–113,064,667 | 246.4 kb | Distal (>10kb) Multiome | 209 | |
| chr4:113,292,210–113,293,671 | 474.7 kb | Distal (>10kb) Multiome | 265 |
Genomic view of the ANK2 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.