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 nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ACTN4. 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 = ACTN4 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 ACTN4, 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 |
|---|---|---|---|---|
| chr19:38,361,454–38,362,809 | 285.5 kb | Distal (>10kb) Multiome | 604 | |
| chr19:38,374,176–38,375,269 | 273.0 kb | Distal (>10kb) Multiome | 1041 | |
| chr19:38,385,485–38,386,937 | 261.7 kb | Distal (>10kb) Multiome | 156 | |
| chr19:38,387,065–38,389,471 | 259.5 kb | Distal (>10kb) Multiome | 591 | |
| chr19:38,394,369–38,395,035 | 253.0 kb | Distal (>10kb) Multiome | 191 | |
| chr19:38,402,504–38,403,738 | 244.6 kb | Distal (>10kb) Multiome | 940 | |
| chr19:38,417,766–38,418,568 | 229.5 kb | Distal (>10kb) Multiome | 407 | |
| chr19:38,434,539–38,435,128 | 212.8 kb | Distal (>10kb) Multiome | 238 | |
| chr19:38,452,620–38,453,510 | 194.5 kb | Distal (>10kb) Multiome | 355 | |
| chr19:38,506,710–38,507,745 | 140.4 kb | Distal (>10kb) Multiome | 369 | |
| chr19:38,514,956–38,515,568 | 132.4 kb | Distal (>10kb) Multiome | 404 | |
| chr19:38,565,090–38,565,701 | 82.3 kb | Distal (>10kb) Multiome | 164 | |
| chr19:38,595,857–38,597,322 | 51.2 kb | Distal (>10kb) Multiome | 478 | |
| chr19:38,617,752–38,619,569 | 28.6 kb | Distal (>10kb) Multiome | 835 | |
| chr19:38,647,137–38,648,653 | 105 bp | At TSS Multiome | 856 | |
| chr19:38,650,099–38,650,253 | 2.5 kb | Proximal (<10kb) | 167 | |
| chr19:38,655,243–38,655,613 | 7.6 kb | Proximal (<10kb) | 135 | |
| chr19:38,666,103–38,666,668 | 18.6 kb | Distal (>10kb) Multiome | 317 | |
| chr19:38,683,677–38,684,144 | 36.0 kb | Distal (>10kb) Multiome | 678 | |
| chr19:38,734,491–38,735,702 | 87.7 kb | Distal (>10kb) Multiome | 338 | |
| chr19:38,735,981–38,737,634 | 89.4 kb | Distal (>10kb) Multiome | 493 | |
| chr19:38,754,913–38,755,455 | 107.6 kb | Distal (>10kb) Multiome | 12 | |
| chr19:38,831,191–38,832,119 | 184.2 kb | Distal (>10kb) Multiome | 931 | |
| chr19:38,849,166–38,852,789 | 204.4 kb | Distal (>10kb) Multiome | 1139 | |
| chr19:38,869,729–38,870,536 | 222.4 kb | Distal (>10kb) Multiome | 350 | |
| chr19:38,899,267–38,900,530 | 252.2 kb | Distal (>10kb) Multiome | 886 | |
| chr19:38,930,044–38,931,363 | 283.1 kb | Distal (>10kb) Multiome | 889 |
Genomic view of the ACTN4 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.