This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Transcription factors with Perturb-seq knockdown data for STOM. 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 = STOM 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 STOM, 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 |
|---|---|---|---|---|
| chr9:121,074,349–121,075,511 | 295.2 kb | Distal (>10kb) Multiome | 1041 | |
| chr9:121,121,551–121,122,082 | 248.5 kb | Distal (>10kb) Multiome | 539 | |
| chr9:121,201,011–121,202,492 | 168.3 kb | Distal (>10kb) Multiome | 850 | |
| chr9:121,221,026–121,221,471 | 148.9 kb | Distal (>10kb) Multiome | 78 | |
| chr9:121,267,686–121,269,264 | 102.2 kb | Distal (>10kb) Multiome | 550 | |
| chr9:121,286,406–121,287,700 | 82.9 kb | Distal (>10kb) Multiome | 735 | |
| chr9:121,299,542–121,300,058 | 70.5 kb | Distal (>10kb) Multiome | 428 | |
| chr9:121,369,661–121,370,788 | 100 bp | At TSS Multiome | 849 | |
| chr9:121,499,468–121,500,318 | 129.7 kb | Distal (>10kb) Multiome | 361 | |
| chr9:121,545,736–121,546,521 | 175.9 kb | Distal (>10kb) Multiome | 559 | |
| chr9:121,550,534–121,551,203 | 180.5 kb | Distal (>10kb) Multiome | 479 | |
| chr9:121,573,659–121,574,394 | 203.7 kb | Distal (>10kb) Multiome | 41 | |
| chr9:121,597,811–121,598,880 | 228.0 kb | Distal (>10kb) Multiome | 345 | |
| chr9:121,598,949–121,600,205 | 229.3 kb | Distal (>10kb) Multiome | 448 | |
| chr9:121,650,102–121,650,775 | 280.1 kb | Distal (>10kb) Multiome | 435 | |
| chr9:121,651,183–121,652,085 | 281.3 kb | Distal (>10kb) Multiome | 493 |
Genomic view of the STOM 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.