Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
Transcription factors with Perturb-seq knockdown data for SPTBN2. 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 = SPTBN2 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 SPTBN2, 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 |
|---|---|---|---|---|
| chr11:66,438,544–66,439,241 | 290.0 kb | Distal (>10kb) Multiome | 756 | |
| chr11:66,466,155–66,467,634 | 262.2 kb | Distal (>10kb) Multiome | 579 | |
| chr11:66,479,578–66,480,947 | 248.6 kb | Distal (>10kb) Multiome | 937 | |
| chr11:66,510,277–66,510,954 | 218.3 kb | Distal (>10kb) Multiome | 787 | |
| chr11:66,545,631–66,547,072 | 182.8 kb | Distal (>10kb) Multiome | 753 | |
| chr11:66,568,061–66,568,910 | 160.5 kb | Distal (>10kb) Multiome | 392 | |
| chr11:66,592,561–66,593,452 | 135.9 kb | Distal (>10kb) Multiome | 857 | |
| chr11:66,616,078–66,617,408 | 112.5 kb | Distal (>10kb) Multiome | 1011 | |
| chr11:66,637,919–66,639,003 | 90.5 kb | Distal (>10kb) Multiome | 872 | |
| chr11:66,677,182–66,678,796 | 51.1 kb | Distal (>10kb) Multiome | 926 | |
| chr11:66,727,490–66,728,112 | 872 bp | At TSS | 471 | |
| chr11:66,728,259–66,728,943 | 532 bp | At TSS Multiome | 275 | |
| chr11:66,744,354–66,745,291 | 15.7 kb | Distal (>10kb) Multiome | 747 | |
| chr11:66,842,896–66,843,952 | 114.4 kb | Distal (>10kb) Multiome HiCAR | 843 | |
| chr11:66,855,758–66,857,980 | 127.4 kb | Distal (>10kb) Multiome | 795 | |
| chr11:66,882,995–66,883,462 | 154.3 kb | Distal (>10kb) Multiome | 277 | |
| chr11:66,957,708–66,959,038 | 229.5 kb | Distal (>10kb) Multiome | 957 | |
| chr11:67,023,002–67,023,688 | 294.4 kb | Distal (>10kb) Multiome | 243 |
Genomic view of the SPTBN2 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.