This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for MTMR2. 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 = MTMR2 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 MTMR2, 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 |
|---|---|---|---|---|
| chr11:95,788,868–95,791,310 | 134.3 kb | Distal (>10kb) Multiome | 1058 | |
| chr11:95,903,947–95,905,232 | 19.6 kb | Distal (>10kb) Multiome | 145 | |
| chr11:95,918,148–95,918,329 | 5.5 kb | Proximal (<10kb) | 12 | |
| chr11:95,923,511–95,924,679 | 28 bp | At TSS Multiome | 950 | |
| chr11:95,933,625–95,933,889 | 9.8 kb | Proximal (<10kb) | 24 | |
| chr11:96,167,040–96,167,627 | 243.3 kb | Distal (>10kb) Multiome | 97 | |
| chr11:96,180,222–96,181,389 | 256.9 kb | Distal (>10kb) Multiome | 133 | |
| chr11:96,211,587–96,212,750 | 288.3 kb | Distal (>10kb) Multiome | 391 | |
| chr11:96,342,718–96,343,737 | 419.2 kb | Distal (>10kb) Multiome HiCAR | 568 | |
| chr11:96,389,261–96,390,676 | 465.8 kb | Distal (>10kb) Multiome HiCAR | 898 |
Genomic view of the MTMR2 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.