The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Transcription factors with Perturb-seq knockdown data for TGDS. 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 = TGDS 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 TGDS, 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 |
|---|---|---|---|---|
| chr13:94,300,090–94,301,125 | 295.7 kb | Distal (>10kb) Multiome | 177 | |
| chr13:94,302,944–94,304,409 | 292.9 kb | Distal (>10kb) Multiome | 284 | |
| chr13:94,416,490–94,416,986 | 179.5 kb | Distal (>10kb) Multiome | 200 | |
| chr13:94,548,604–94,550,382 | 46.7 kb | Distal (>10kb) Multiome | 899 | |
| chr13:94,595,700–94,596,749 | 10 bp | At TSS Multiome | 741 | |
| chr13:94,601,312–94,602,589 | 5.6 kb | Proximal (<10kb) Multiome | 663 | |
| chr13:94,707,389–94,708,611 | 112.0 kb | Distal (>10kb) Multiome | 257 | |
| chr13:94,710,520–94,714,056 | 117.1 kb | Distal (>10kb) Multiome | 498 | |
| chr13:94,825,487–94,826,097 | 229.5 kb | Distal (>10kb) Multiome | 148 |
Genomic view of the TGDS 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.