This gene encodes the multi-pass transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024]
Transcription factors with Perturb-seq knockdown data for BSCL2. 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 = BSCL2 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 BSCL2, 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 |
|---|---|---|---|---|
| chr11:62,460,403–62,461,004 | 246.7 kb | Distal (>10kb) Multiome | 20 | |
| chr11:62,508,289–62,508,878 | 198.9 kb | Distal (>10kb) Multiome | 499 | |
| chr11:62,542,658–62,543,488 | 164.5 kb | Distal (>10kb) Multiome | 537 | |
| chr11:62,545,051–62,547,562 | 160.4 kb | Distal (>10kb) Multiome | 889 | |
| chr11:62,553,213–62,553,741 | 154.0 kb | Distal (>10kb) Multiome | 489 | |
| chr11:62,555,905–62,556,742 | 151.2 kb | Distal (>10kb) Multiome | 545 | |
| chr11:62,560,588–62,561,104 | 146.8 kb | Distal (>10kb) Multiome | 541 | |
| chr11:62,561,760–62,562,358 | 145.4 kb | Distal (>10kb) Multiome | 43 | |
| chr11:62,573,347–62,574,645 | 133.4 kb | Distal (>10kb) Multiome | 845 | |
| chr11:62,591,246–62,592,462 | 115.7 kb | Distal (>10kb) Multiome | 976 | |
| chr11:62,600,988–62,603,291 | 105.5 kb | Distal (>10kb) Multiome | 872 | |
| chr11:62,611,665–62,613,544 | 94.6 kb | Distal (>10kb) Multiome | 737 | |
| chr11:62,621,550–62,622,445 | 85.4 kb | Distal (>10kb) Multiome | 964 | |
| chr11:62,646,025–62,647,031 | 60.8 kb | Distal (>10kb) Multiome | 815 | |
| chr11:62,652,836–62,653,744 | 54.1 kb | Distal (>10kb) Multiome | 921 | |
| chr11:62,664,567–62,666,291 | 42.2 kb | Distal (>10kb) Multiome | 1020 | |
| chr11:62,671,328–62,672,522 | 35.7 kb | Distal (>10kb) Multiome | 882 | |
| chr11:62,705,543–62,707,930 | 1.1 kb | Proximal (<10kb) Multiome | 760 | |
| chr11:62,708,375–62,708,578 | 2.1 kb | Proximal (<10kb) | 29 | |
| chr11:62,708,691–62,710,293 | 2.2 kb | Proximal (<10kb) Multiome | 531 | |
| chr11:62,726,557–62,728,947 | 20.1 kb | Distal (>10kb) Multiome | 1088 | |
| chr11:62,753,347–62,754,665 | 46.7 kb | Distal (>10kb) Multiome | 696 | |
| chr11:62,761,085–62,762,045 | 54.0 kb | Distal (>10kb) Multiome | 649 | |
| chr11:62,770,753–62,772,068 | 64.0 kb | Distal (>10kb) Multiome | 885 | |
| chr11:62,786,365–62,787,860 | 79.1 kb | Distal (>10kb) Multiome | 1073 | |
| chr11:62,791,569–62,792,385 | 84.6 kb | Distal (>10kb) Multiome | 805 | |
| chr11:62,804,451–62,807,080 | 98.1 kb | Distal (>10kb) Multiome | 994 | |
| chr11:62,831,037–62,832,904 | 124.5 kb | Distal (>10kb) Multiome | 870 | |
| chr11:62,839,042–62,842,743 | 133.9 kb | Distal (>10kb) Multiome | 1403 | |
| chr11:62,851,028–62,851,955 | 144.0 kb | Distal (>10kb) Multiome | 421 | |
| chr11:62,855,209–62,856,560 | 148.5 kb | Distal (>10kb) Multiome | 1071 | |
| chr11:62,862,252–62,862,948 | 155.2 kb | Distal (>10kb) Multiome | 360 | |
| chr11:62,880,343–62,881,977 | 173.4 kb | Distal (>10kb) Multiome | 1080 | |
| chr11:62,909,033–62,909,985 | 201.9 kb | Distal (>10kb) Multiome | 366 |
Genomic view of the BSCL2 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.