Involved in negative regulation of BMP signaling pathway; negative regulation of ossification; and regulation of nucleocytoplasmic transport. Located in nuclear membrane. Implicated in craniotubular dysplasia Ikegawa type. [provided by Alliance of Genome Resources, Jul 2025]
Transcription factors with Perturb-seq knockdown data for TMEM53. 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 = TMEM53 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 TMEM53, 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 |
|---|---|---|---|---|
| chr1:44,213,251–44,213,777 | 461.0 kb | Distal (>10kb) Multiome HiCAR | 1062 | |
| chr1:44,404,952–44,406,390 | 269.2 kb | Distal (>10kb) Multiome | 647 | |
| chr1:44,417,400–44,418,123 | 256.8 kb | Distal (>10kb) Multiome | 272 | |
| chr1:44,500,703–44,501,235 | 173.4 kb | Distal (>10kb) Multiome | 128 | |
| chr1:44,512,396–44,512,984 | 161.8 kb | Distal (>10kb) Multiome | 68 | |
| chr1:44,523,679–44,524,641 | 150.2 kb | Distal (>10kb) Multiome | 302 | |
| chr1:44,542,481–44,544,064 | 131.2 kb | Distal (>10kb) Multiome | 277 | |
| chr1:44,631,466–44,632,956 | 42.4 kb | Distal (>10kb) Multiome | 928 | |
| chr1:44,673,636–44,675,002 | 29 bp | At TSS Multiome | 750 | |
| chr1:44,720,791–44,722,329 | 47.2 kb | Distal (>10kb) Multiome | 1059 | |
| chr1:44,730,465–44,731,848 | 56.6 kb | Distal (>10kb) Multiome | 1164 | |
| chr1:44,739,368–44,740,265 | 65.3 kb | Distal (>10kb) Multiome | 828 | |
| chr1:44,775,008–44,776,007 | 101.1 kb | Distal (>10kb) Multiome | 1041 | |
| chr1:44,783,907–44,784,940 | 109.9 kb | Distal (>10kb) Multiome | 497 | |
| chr1:44,786,163–44,786,815 | 111.9 kb | Distal (>10kb) Multiome | 616 | |
| chr1:44,799,477–44,801,039 | 125.6 kb | Distal (>10kb) Multiome | 1017 | |
| chr1:44,807,115–44,808,920 | 134.1 kb | Distal (>10kb) Multiome | 987 | |
| chr1:44,812,965–44,814,105 | 139.3 kb | Distal (>10kb) Multiome | 349 | |
| chr1:44,818,937–44,820,693 | 145.5 kb | Distal (>10kb) Multiome | 1101 | |
| chr1:44,842,822–44,843,695 | 168.9 kb | Distal (>10kb) Multiome | 539 |
Genomic view of the TMEM53 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.