This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2024]
Transcription factors with Perturb-seq knockdown data for ACTN3. 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 = ACTN3 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 ACTN3, 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 |
|---|---|---|---|---|
| chr11:66,256,991–66,258,893 | 289.0 kb | Distal (>10kb) Multiome | 844 | |
| chr11:66,266,650–66,269,501 | 278.3 kb | Distal (>10kb) Multiome | 869 | |
| chr11:66,277,646–66,278,447 | 268.8 kb | Distal (>10kb) Multiome | 363 | |
| chr11:66,282,288–66,283,017 | 264.3 kb | Distal (>10kb) Multiome | 618 | |
| chr11:66,288,772–66,289,992 | 257.6 kb | Distal (>10kb) Multiome | 944 | |
| chr11:66,311,658–66,313,958 | 234.0 kb | Distal (>10kb) Multiome | 1005 | |
| chr11:66,316,861–66,317,347 | 229.9 kb | Distal (>10kb) Multiome | 164 | |
| chr11:66,328,223–66,328,781 | 218.4 kb | Distal (>10kb) Multiome | 662 | |
| chr11:66,344,804–66,345,488 | 201.8 kb | Distal (>10kb) Multiome | 731 | |
| chr11:66,347,078–66,348,463 | 199.1 kb | Distal (>10kb) Multiome | 866 | |
| chr11:66,370,733–66,372,576 | 175.1 kb | Distal (>10kb) Multiome | 800 | |
| chr11:66,408,467–66,409,206 | 138.1 kb | Distal (>10kb) Multiome | 569 | |
| chr11:66,421,258–66,422,129 | 125.1 kb | Distal (>10kb) Multiome | 1190 | |
| chr11:66,438,544–66,439,241 | 107.9 kb | Distal (>10kb) Multiome | 756 | |
| chr11:66,466,155–66,467,634 | 80.2 kb | Distal (>10kb) Multiome | 579 | |
| chr11:66,479,578–66,480,947 | 66.5 kb | Distal (>10kb) Multiome | 937 | |
| chr11:66,510,277–66,510,954 | 36.3 kb | Distal (>10kb) Multiome | 787 | |
| chr11:66,545,631–66,547,072 | 667 bp | At TSS Multiome | 753 | |
| chr11:66,568,061–66,568,910 | 21.6 kb | Distal (>10kb) Multiome | 392 | |
| chr11:66,592,561–66,593,452 | 46.1 kb | Distal (>10kb) Multiome | 857 | |
| chr11:66,616,078–66,617,408 | 69.6 kb | Distal (>10kb) Multiome | 1011 | |
| chr11:66,637,919–66,639,003 | 91.6 kb | Distal (>10kb) Multiome | 872 | |
| chr11:66,677,182–66,678,796 | 131.0 kb | Distal (>10kb) Multiome HiCAR | 926 | |
| chr11:66,728,259–66,728,943 | 181.6 kb | Distal (>10kb) Multiome | 275 | |
| chr11:66,744,354–66,745,291 | 197.9 kb | Distal (>10kb) Multiome | 747 | |
| chr11:66,842,896–66,843,952 | 296.5 kb | Distal (>10kb) Multiome | 843 |
Genomic view of the ACTN3 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.