This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
Transcription factors with Perturb-seq knockdown data for TMX3. 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 = TMX3 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 TMX3, 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 |
|---|---|---|---|---|
| chr18:67,368,248–67,369,001 | 1346.4 kb | Distal (>10kb) Multiome HiCAR | 96 | |
| chr18:67,455,460–67,456,258 | 1259.1 kb | Distal (>10kb) Multiome HiCAR | 86 | |
| chr18:67,515,663–67,517,723 | 1199.2 kb | Distal (>10kb) Multiome HiCAR | 579 | |
| chr18:67,585,750–67,587,104 | 1128.7 kb | Distal (>10kb) Multiome HiCAR | 152 | |
| chr18:68,561,806–68,563,075 | 152.7 kb | Distal (>10kb) Multiome | 132 | |
| chr18:68,713,229–68,713,429 | 1.7 kb | Proximal (<10kb) | 43 | |
| chr18:68,714,344–68,715,550 | 37 bp | At TSS Multiome | 900 | |
| chr18:68,942,219–68,945,153 | 227.5 kb | Distal (>10kb) Multiome | 285 |
Genomic view of the TMX3 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.