Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
Transcription factors with Perturb-seq knockdown data for ACTN2. 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 = ACTN2 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 ACTN2, 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 |
|---|---|---|---|---|
| chr1:236,394,885–236,396,208 | 291.0 kb | Distal (>10kb) Multiome | 588 | |
| chr1:236,603,983–236,605,319 | 81.9 kb | Distal (>10kb) Multiome | 928 | |
| chr1:236,685,236–236,685,470 | 1.0 kb | Proximal (<10kb) | 25 | |
| chr1:236,685,947–236,687,221 | 37 bp | At TSS Multiome | 483 | |
| chr1:236,692,062–236,692,503 | 5.6 kb | Proximal (<10kb) | 47 | |
| chr1:236,753,433–236,754,015 | 5.7 kb | Proximal (<10kb) | 158 | |
| chr1:236,794,715–236,796,156 | 108.7 kb | Distal (>10kb) Multiome | 1141 | |
| chr1:237,031,435–237,032,652 | 345.7 kb | Distal (>10kb) Multiome | 236 | |
| chr1:237,041,385–237,043,717 | 355.6 kb | Distal (>10kb) Multiome | 473 |
Genomic view of the ACTN2 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.