This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Transcription factors with Perturb-seq knockdown data for SLC19A2. 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 = SLC19A2 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 SLC19A2, 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 |
|---|---|---|---|---|
| chr1:168,178,414–168,179,583 | 1307.0 kb | Distal (>10kb) Multiome HiCAR | 940 | |
| chr1:169,367,501–169,368,697 | 118.0 kb | Distal (>10kb) Multiome | 746 | |
| chr1:169,427,069–169,427,659 | 58.5 kb | Distal (>10kb) Multiome | 258 | |
| chr1:169,485,050–169,486,633 | 61 bp | At TSS Multiome | 1015 | |
| chr1:169,687,392–169,688,201 | 201.9 kb | Distal (>10kb) Multiome | 176 |
Genomic view of the SLC19A2 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.