The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]
Transcription factors with Perturb-seq knockdown data for AHNAK. 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 = AHNAK 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 AHNAK, 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 |
|---|---|---|---|---|
| chr11:62,337,140–62,338,142 | 209.3 kb | Distal (>10kb) Multiome | 611 | |
| chr11:62,382,190–62,383,008 | 164.2 kb | Distal (>10kb) Multiome HiCAR | 36 | |
| chr11:62,460,403–62,461,004 | 86.1 kb | Distal (>10kb) Multiome | 20 | |
| chr11:62,508,289–62,508,878 | 38.3 kb | Distal (>10kb) Multiome HiCAR | 499 | |
| chr11:62,542,658–62,543,488 | 3.9 kb | Proximal (<10kb) Multiome | 537 | |
| chr11:62,545,051–62,547,562 | 206 bp | At TSS Multiome | 889 | |
| chr11:62,553,213–62,553,741 | 6.6 kb | Proximal (<10kb) Multiome | 489 | |
| chr11:62,555,905–62,556,742 | 9.5 kb | Proximal (<10kb) Multiome | 545 | |
| chr11:62,560,588–62,561,104 | 13.9 kb | Distal (>10kb) Multiome | 541 | |
| chr11:62,561,760–62,562,358 | 15.2 kb | Distal (>10kb) Multiome | 43 | |
| chr11:62,573,347–62,574,645 | 27.2 kb | Distal (>10kb) Multiome | 845 | |
| chr11:62,591,246–62,592,462 | 44.9 kb | Distal (>10kb) Multiome | 976 | |
| chr11:62,600,988–62,603,291 | 55.1 kb | Distal (>10kb) Multiome | 872 | |
| chr11:62,611,665–62,613,544 | 66.1 kb | Distal (>10kb) Multiome | 737 | |
| chr11:62,621,550–62,622,445 | 75.2 kb | Distal (>10kb) Multiome | 964 | |
| chr11:62,646,025–62,647,031 | 99.8 kb | Distal (>10kb) Multiome | 815 | |
| chr11:62,652,836–62,653,744 | 106.5 kb | Distal (>10kb) Multiome | 921 | |
| chr11:62,664,567–62,666,291 | 118.4 kb | Distal (>10kb) Multiome | 1020 | |
| chr11:62,671,328–62,672,522 | 124.9 kb | Distal (>10kb) Multiome | 882 | |
| chr11:62,705,543–62,707,930 | 159.5 kb | Distal (>10kb) Multiome | 760 | |
| chr11:62,708,691–62,710,293 | 162.8 kb | Distal (>10kb) Multiome | 531 | |
| chr11:62,726,557–62,728,947 | 180.8 kb | Distal (>10kb) Multiome | 1088 | |
| chr11:62,753,347–62,754,665 | 207.3 kb | Distal (>10kb) Multiome | 696 | |
| chr11:62,761,085–62,762,045 | 214.7 kb | Distal (>10kb) Multiome | 649 | |
| chr11:62,770,753–62,772,068 | 224.6 kb | Distal (>10kb) Multiome | 885 | |
| chr11:62,786,365–62,787,860 | 239.7 kb | Distal (>10kb) Multiome | 1073 | |
| chr11:62,791,569–62,792,385 | 245.2 kb | Distal (>10kb) Multiome | 805 | |
| chr11:62,804,451–62,807,080 | 258.7 kb | Distal (>10kb) Multiome | 994 | |
| chr11:62,831,037–62,832,904 | 285.2 kb | Distal (>10kb) Multiome | 870 | |
| chr11:62,839,042–62,842,743 | 294.6 kb | Distal (>10kb) Multiome | 1403 |
Genomic view of the AHNAK 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.