This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for TMEM43. 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 = TMEM43 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 TMEM43, 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 |
|---|---|---|---|---|
| chr3:13,655,106–13,655,809 | 469.6 kb | Distal (>10kb) Multiome HiCAR | 273 | |
| chr3:13,879,719–13,881,081 | 244.4 kb | Distal (>10kb) Multiome | 324 | |
| chr3:13,894,956–13,896,282 | 229.6 kb | Distal (>10kb) Multiome HiCAR | 410 | |
| chr3:13,896,386–13,897,098 | 228.2 kb | Distal (>10kb) Multiome HiCAR | 240 | |
| chr3:13,947,416–13,948,575 | 177.2 kb | Distal (>10kb) Multiome HiCAR | 105 | |
| chr3:13,950,690–13,951,954 | 173.7 kb | Distal (>10kb) Multiome HiCAR | 157 | |
| chr3:14,121,816–14,122,532 | 3.0 kb | Proximal (<10kb) Multiome | 97 | |
| chr3:14,124,108–14,126,323 | 162 bp | At TSS Multiome | 1032 | |
| chr3:14,178,020–14,179,126 | 53.6 kb | Distal (>10kb) Multiome | 960 | |
| chr3:14,216,206–14,216,677 | 91.4 kb | Distal (>10kb) Multiome | 226 | |
| chr3:14,232,409–14,233,221 | 107.7 kb | Distal (>10kb) Multiome | 527 | |
| chr3:14,272,392–14,272,931 | 147.7 kb | Distal (>10kb) Multiome | 132 | |
| chr3:14,319,426–14,320,088 | 194.7 kb | Distal (>10kb) Multiome | 332 | |
| chr3:14,401,899–14,403,672 | 277.5 kb | Distal (>10kb) Multiome | 895 | |
| chr3:14,412,856–14,413,790 | 288.4 kb | Distal (>10kb) Multiome | 270 |
Genomic view of the TMEM43 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.