MAML2
mastermind like transcriptional coactivator 2
Summary
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]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2497024113 | 11:95,712,289 | T/G | — | uncertain significance |
| rs552131622 | 11:95,712,311 | T/G | — | uncertain significance |
| rs372556150 | 11:95,712,362 | G/A | — | uncertain significance |
| rs772579652 | 11:95,712,368 | G/C | — | uncertain significance |
| rs201034217 | 11:95,712,409 | A/C | — | uncertain significance |
| rs2497024964 | 11:95,712,456 | G/T | — | uncertain significance |
| rs779222217 | 11:95,712,465 | T/C | — | uncertain significance |
| rs182630516 | 11:95,712,558 | A/C | — | uncertain significance |
| rs367748029 | 11:95,712,629 | C/T | — | uncertain significance |
| rs748451751 | 11:95,712,636 | C/G | — | uncertain significance |
| rs2497026284 | 11:95,712,659 | T/C | — | uncertain significance |
| rs758559064 | 11:95,712,692 | G/T | — | uncertain significance |
| rs199713911 | 11:95,712,720 | C/T | — | uncertain significance |
| rs768525100 | 11:95,712,752 | A/G | — | uncertain significance |
| rs1290766962 | 11:95,712,831 | T/C | — | uncertain significance |
| rs768395086 | 11:95,712,841 | T/A | — | uncertain significance |
| rs1857708754 | 11:95,712,998 | G/A | — | uncertain significance |
| rs374991058 | 11:95,713,023 | C/G | — | uncertain significance |
| rs775514618 | 11:95,713,085 | G/A | — | uncertain significance |
| rs2497040214 | 11:95,718,755 | G/A | — | uncertain significance |
| rs763344223 | 11:95,718,775 | C/T | — | uncertain significance |
| rs78042302 | 11:95,724,719 | G/C | — | uncertain significance |
| rs747532912 | 11:95,724,758 | T/C | — | uncertain significance |
| rs371373178 | 11:95,724,808 | C/G | — | uncertain significance |
| rs1857914775 | 11:95,724,832 | C/G | — | uncertain significance |
| rs648086 | 11:95,738,350 | A/G | intron variant | — |
| rs10831476 | 11:95,796,910 | A/C | intron variant | — |
| rs2497235892 | 11:95,825,138 | A/G | — | uncertain significance |
| rs746679328 | 11:95,825,163 | G/C | — | uncertain significance |
| rs766552339 | 11:95,825,184 | C/A | — | uncertain significance |
| rs564983573 | 11:95,825,401 | C/T | — | likely benign |
| rs2497239131 | 11:95,825,489 | T/C | — | uncertain significance |
| rs1204779995 | 11:95,825,523 | G/T | — | uncertain significance |
| rs77608011 | 11:95,825,703 | G/A | — | benign |
| rs180770600 | 11:95,825,709 | G/A | — | uncertain significance |
| rs2497240740 | 11:95,825,730 | T/A | — | uncertain significance |
| rs755102519 | 11:95,825,749 | G/T | — | uncertain significance |
| rs771918587 | 11:95,825,768 | C/A | — | uncertain significance |
| rs185002555 | 11:95,825,802 | G/A | — | uncertain significance |
| rs746418006 | 11:95,825,850 | T/C | — | uncertain significance |
| rs1859745811 | 11:95,825,859 | G/A | — | uncertain significance |
| rs2497241963 | 11:95,825,936 | G/A | — | uncertain significance |
| rs539363650 | 11:95,825,940 | C/T | — | uncertain significance |
| rs560002555 | 11:95,825,949 | T/A | — | uncertain significance |
| rs370348086 | 11:95,826,006 | C/A | — | uncertain significance |
| rs748811004 | 11:95,826,011 | T/C | — | uncertain significance |
| rs200175200 | 11:95,826,041 | G/A | — | uncertain significance |
| rs201509772 | 11:95,826,052 | C/A | — | uncertain significance |
| rs768348712 | 11:95,826,302 | C/T | — | uncertain significance |
| rs183208807 | 11:95,826,362 | T/C | — | uncertain significance |
| rs201372993 | 11:95,826,389 | G/A | — | uncertain significance |
| rs1306006914 | 11:95,826,474 | G/C | — | uncertain significance |
| rs201529416 | 11:95,826,554 | G/A | — | uncertain significance |
| rs1004962884 | 11:95,826,573 | C/T | — | uncertain significance |
| rs553578983 | 11:95,826,599 | G/A | — | uncertain significance |
| rs747285514 | 11:95,826,617 | T/C | — | uncertain significance |
| rs76032516 | 11:95,830,714 | A/T | — | — |
| rs12799722 | 11:95,834,689 | G/T | — | — |
| rs11021432 | 11:95,837,674 | T/A | intron variant | — |
| rs10765792 | 11:95,866,700 | G/T | — | — |
| rs144383384 | 11:95,942,368 | C/A | intron variant | — |
| rs11021499 | 11:95,992,129 | G/T | — | — |
| rs11021504 | 11:95,995,448 | T/G | — | — |
| rs7115578 | 11:96,000,100 | G/C | — | — |
| rs485842 | 11:96,023,214 | C/T | intron variant | — |
| rs483905 | 11:96,023,427 | G/A | intron variant | — |
| rs367937959 | 11:96,074,603 | C/T | — | uncertain significance |
| rs1381312246 | 11:96,074,650 | T/C | — | uncertain significance |
| rs950510736 | 11:96,074,692 | G/C | — | uncertain significance |
| rs750224740 | 11:96,074,713 | G/A | — | uncertain significance |
| rs199840764 | 11:96,074,719 | G/A | — | uncertain significance |
| rs1400152705 | 11:96,074,734 | G/A | — | uncertain significance |
| rs537072178 | 11:96,074,915 | G/T | — | uncertain significance |
| rs760671780 | 11:96,075,016 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.