The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
Transcription factors with Perturb-seq knockdown data for SERPINB6. 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 = SERPINB6 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 SERPINB6, 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 |
|---|---|---|---|---|
| chr6:2,764,624–2,766,543 | 206.0 kb | Distal (>10kb) Multiome | 1055 | |
| chr6:2,841,174–2,842,113 | 129.6 kb | Distal (>10kb) Multiome HiCAR | 959 | |
| chr6:2,875,264–2,877,978 | 95.7 kb | Distal (>10kb) Multiome | 812 | |
| chr6:2,902,554–2,903,750 | 68.0 kb | Distal (>10kb) Multiome | 774 | |
| chr6:2,913,547–2,914,632 | 57.4 kb | Distal (>10kb) Multiome | 67 | |
| chr6:2,925,788–2,926,597 | 45.1 kb | Distal (>10kb) Multiome | 244 | |
| chr6:2,927,704–2,929,196 | 43.1 kb | Distal (>10kb) Multiome | 154 | |
| chr6:2,931,916–2,932,749 | 38.9 kb | Distal (>10kb) Multiome | 652 | |
| chr6:2,942,573–2,943,965 | 28.2 kb | Distal (>10kb) Multiome | 222 | |
| chr6:2,952,443–2,953,210 | 18.5 kb | Distal (>10kb) Multiome | 649 | |
| chr6:2,962,117–2,962,262 | 9.1 kb | Proximal (<10kb) | 48 | |
| chr6:2,970,836–2,972,016 | 47 bp | At TSS Multiome | 817 | |
| chr6:2,980,019–2,980,493 | 8.7 kb | Proximal (<10kb) | 252 | |
| chr6:2,985,539–2,987,671 | 14.8 kb | Distal (>10kb) Multiome HiCAR | 402 | |
| chr6:2,987,802–2,990,098 | 18.5 kb | Distal (>10kb) Multiome HiCAR | 1173 | |
| chr6:2,990,284–2,991,348 | 19.7 kb | Distal (>10kb) Multiome | 509 | |
| chr6:2,999,131–3,000,475 | 28.5 kb | Distal (>10kb) Multiome | 930 | |
| chr6:3,041,670–3,042,232 | 70.7 kb | Distal (>10kb) Multiome | 84 | |
| chr6:3,052,936–3,054,463 | 82.5 kb | Distal (>10kb) Multiome | 864 | |
| chr6:3,063,662–3,064,609 | 92.6 kb | Distal (>10kb) Multiome | 752 | |
| chr6:3,068,179–3,069,296 | 97.5 kb | Distal (>10kb) Multiome | 1032 | |
| chr6:3,118,061–3,119,380 | 147.3 kb | Distal (>10kb) Multiome | 966 | |
| chr6:3,156,701–3,158,249 | 186.3 kb | Distal (>10kb) Multiome | 859 | |
| chr6:3,162,506–3,163,526 | 191.7 kb | Distal (>10kb) Multiome | 926 | |
| chr6:3,165,678–3,166,637 | 195.1 kb | Distal (>10kb) Multiome | 343 | |
| chr6:3,226,566–3,229,919 | 256.5 kb | Distal (>10kb) Multiome | 770 | |
| chr6:3,231,202–3,232,265 | 260.5 kb | Distal (>10kb) Multiome | 593 | |
| chr6:3,251,328–3,252,273 | 280.5 kb | Distal (>10kb) Multiome | 561 | |
| chr6:3,258,552–3,259,886 | 287.6 kb | Distal (>10kb) Multiome | 946 |
Genomic view of the SERPINB6 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.