The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]
Transcription factors with Perturb-seq knockdown data for MAML2. 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 = MAML2 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 MAML2, 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 |
|---|---|---|---|---|
| chr11:95,144,387–95,145,222 | 1198.3 kb | Distal (>10kb) Multiome HiCAR | 127 | |
| chr11:95,149,652–95,152,295 | 1193.3 kb | Distal (>10kb) Multiome HiCAR | 685 | |
| chr11:95,923,511–95,924,679 | 419.1 kb | Distal (>10kb) Multiome HiCAR | 950 | |
| chr11:96,167,040–96,167,627 | 175.8 kb | Distal (>10kb) Multiome | 97 | |
| chr11:96,180,222–96,181,389 | 162.2 kb | Distal (>10kb) Multiome | 133 | |
| chr11:96,211,587–96,212,750 | 130.8 kb | Distal (>10kb) Multiome | 391 | |
| chr11:96,243,217–96,244,039 | 99.8 kb | Distal (>10kb) Multiome | 569 | |
| chr11:96,333,560–96,333,747 | 9.4 kb | Proximal (<10kb) | 22 | |
| chr11:96,341,416–96,342,036 | 1.2 kb | Proximal (<10kb) | 387 | |
| chr11:96,342,718–96,343,737 | 111 bp | At TSS Multiome | 568 | |
| chr11:96,389,261–96,390,676 | 46.7 kb | Distal (>10kb) Multiome | 898 | |
| chr11:96,586,158–96,587,250 | 243.4 kb | Distal (>10kb) Multiome | 210 |
Genomic view of the MAML2 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.