This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
Transcription factors with Perturb-seq knockdown data for SLC29A3. 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 = SLC29A3 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 SLC29A3, 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 |
|---|---|---|---|---|
| chr10:71,212,161–71,213,632 | 106.7 kb | Distal (>10kb) Multiome | 581 | |
| chr10:71,314,377–71,314,723 | 4.6 kb | Proximal (<10kb) | 107 | |
| chr10:71,318,890–71,319,987 | 110 bp | At TSS Multiome | 790 | |
| chr10:71,377,217–71,377,664 | 58.2 kb | Distal (>10kb) Multiome | 744 | |
| chr10:71,396,097–71,397,631 | 77.3 kb | Distal (>10kb) Multiome | 349 | |
| chr10:71,638,710–71,639,451 | 319.8 kb | Distal (>10kb) Multiome HiCAR | 524 | |
| chr10:71,657,441–71,658,753 | 338.6 kb | Distal (>10kb) Multiome HiCAR | 216 | |
| chr10:71,708,123–71,708,597 | 389.1 kb | Distal (>10kb) Multiome HiCAR | 239 |
Genomic view of the SLC29A3 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.