The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
Transcription factors with Perturb-seq knockdown data for DMTN. 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 = DMTN 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 DMTN, 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 |
|---|---|---|---|---|
| chr8:21,782,177–21,783,108 | 266.5 kb | Distal (>10kb) Multiome | 145 | |
| chr8:21,784,384–21,784,867 | 264.6 kb | Distal (>10kb) Multiome | 246 | |
| chr8:21,788,264–21,790,181 | 260.1 kb | Distal (>10kb) Multiome | 307 | |
| chr8:21,918,240–21,920,671 | 129.5 kb | Distal (>10kb) Multiome | 727 | |
| chr8:22,009,978–22,010,924 | 38.7 kb | Distal (>10kb) Multiome | 885 | |
| chr8:22,036,665–22,037,480 | 12.2 kb | Distal (>10kb) Multiome | 457 | |
| chr8:22,039,647–22,043,111 | 9.1 kb | Proximal (<10kb) Multiome | 407 | |
| chr8:22,043,945–22,044,848 | 4.3 kb | Proximal (<10kb) | 106 | |
| chr8:22,047,856–22,051,849 | 75 bp | At TSS Multiome | 566 | |
| chr8:22,052,043–22,052,610 | 2.9 kb | Proximal (<10kb) | 39 | |
| chr8:22,052,727–22,057,283 | 4.8 kb | Proximal (<10kb) Multiome | 541 | |
| chr8:22,057,388–22,058,042 | 8.2 kb | Proximal (<10kb) | 62 | |
| chr8:22,059,860–22,060,109 | 6.3 kb | Proximal (<10kb) | 361 | |
| chr8:22,066,266–22,067,293 | 17.7 kb | Distal (>10kb) Multiome | 612 | |
| chr8:22,069,764–22,070,311 | 3.2 kb | Proximal (<10kb) | 85 | |
| chr8:22,089,006–22,089,746 | 40.0 kb | Distal (>10kb) Multiome | 562 | |
| chr8:22,095,301–22,095,802 | 46.4 kb | Distal (>10kb) Multiome | 199 | |
| chr8:22,108,625–22,110,515 | 60.4 kb | Distal (>10kb) Multiome | 907 | |
| chr8:22,129,779–22,131,071 | 81.4 kb | Distal (>10kb) Multiome HiCAR | 440 | |
| chr8:22,137,231–22,137,850 | 88.4 kb | Distal (>10kb) Multiome HiCAR | 531 | |
| chr8:22,140,995–22,142,545 | 92.8 kb | Distal (>10kb) Multiome | 753 | |
| chr8:22,156,517–22,157,091 | 107.7 kb | Distal (>10kb) Multiome | 215 | |
| chr8:22,164,354–22,165,830 | 115.9 kb | Distal (>10kb) Multiome | 672 | |
| chr8:22,188,487–22,189,031 | 139.7 kb | Distal (>10kb) Multiome | 334 | |
| chr8:22,244,388–22,245,751 | 196.0 kb | Distal (>10kb) Multiome | 1013 | |
| chr8:22,275,120–22,276,011 | 226.2 kb | Distal (>10kb) Multiome | 195 |
Genomic view of the DMTN 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.