This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
Transcription factors with Perturb-seq knockdown data for MBNL2. 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 = MBNL2 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 MBNL2, 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 |
|---|---|---|---|---|
| chr13:97,109,602–97,110,401 | 112.2 kb | Distal (>10kb) Multiome HiCAR | 639 | |
| chr13:97,222,009–97,222,637 | at TSS | At TSS | 491 | |
| chr13:97,223,785–97,224,402 | 1.5 kb | Proximal (<10kb) | 403 | |
| chr13:97,226,862–97,227,846 | 5.0 kb | Proximal (<10kb) Multiome | 390 | |
| chr13:97,432,559–97,435,046 | 210.9 kb | Distal (>10kb) Multiome | 900 |
Genomic view of the MBNL2 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.