The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Transcription factors with Perturb-seq knockdown data for TXNL4A. 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 = TXNL4A 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 TXNL4A, 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 |
|---|---|---|---|---|
| chr18:79,797,637–79,799,132 | 235.9 kb | Distal (>10kb) Multiome | 246 | |
| chr18:79,950,747–79,952,381 | 82.2 kb | Distal (>10kb) Multiome | 606 | |
| chr18:79,960,055–79,960,750 | 73.5 kb | Distal (>10kb) Multiome | 94 | |
| chr18:79,964,253–79,964,855 | 69.4 kb | Distal (>10kb) Multiome | 536 | |
| chr18:79,988,046–79,989,235 | 45.4 kb | Distal (>10kb) Multiome | 832 | |
| chr18:80,033,036–80,034,844 | 203 bp | At TSS Multiome | 863 | |
| chr18:80,108,658–80,110,068 | 75.1 kb | Distal (>10kb) Multiome | 673 | |
| chr18:80,119,162–80,119,666 | 85.4 kb | Distal (>10kb) Multiome | 42 | |
| chr18:80,147,532–80,148,374 | 113.9 kb | Distal (>10kb) Multiome | 357 | |
| chr18:80,245,958–80,247,961 | 212.6 kb | Distal (>10kb) Multiome | 405 |
Genomic view of the TXNL4A 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.