MAML2
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| mastermind like transcriptional coactivator 2 | MIM:607537 | Ensembl:ENSG00000184384 | HGNC:HGNC:16259 | PA134946327 | 11q21 |
GO terms in MAML2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0006367 | transcription initiation from RNA polymerase II promoter |
| BP | IDA | GO:0007219 | Notch signaling pathway |
| BP | TAS | GO:0007219 | Notch signaling pathway |
| BP | IBA | GO:0007221 | positive regulation of transcription of Notch receptor target |
| BP | TAS | GO:0007221 | positive regulation of transcription of Notch receptor target |
| BP | TAS | GO:0045747 | positive regulation of Notch signaling pathway |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| CC | IDA | GO:0005634 | nucleus |
| CC | IBA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0016607 | nuclear speck |
| MF | IBA | GO:0003713 | transcription coactivator activity |
| MF | IDA | GO:0003713 | transcription coactivator activity |
Gene expression in normal tissue: MAML2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MAML2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-186712 | Regulation of beta-cell development |
| reactome | R-HSA-1912408 | Pre-NOTCH Transcription and Translation |
| reactome | R-HSA-1912408 | Pre-NOTCH Transcription and Translation |
| reactome | R-HSA-1912422 | Pre-NOTCH Expression and Processing |
| reactome | R-HSA-1912422 | Pre-NOTCH Expression and Processing |
| reactome | R-HSA-1980143 | Signaling by NOTCH1 |
| reactome | R-HSA-1980143 | Signaling by NOTCH1 |
| reactome | R-HSA-1980145 | Signaling by NOTCH2 |
| reactome | R-HSA-1980145 | Signaling by NOTCH2 |
| reactome | R-HSA-210744 | Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells |
| reactome | R-HSA-2122947 | NOTCH1 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-2122947 | NOTCH1 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2197563 | NOTCH2 intracellular domain regulates transcription |
| reactome | R-HSA-2197563 | NOTCH2 intracellular domain regulates transcription |
| reactome | R-HSA-2644602 | Signaling by NOTCH1 PEST Domain Mutants in Cancer |
| reactome | R-HSA-2644603 | Signaling by NOTCH1 in Cancer |
| reactome | R-HSA-2644606 | Constitutive Signaling by NOTCH1 PEST Domain Mutants |
| reactome | R-HSA-2894858 | Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
| reactome | R-HSA-2894862 | Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
| reactome | R-HSA-350054 | Notch-HLH transcription pathway |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878159 | Transcriptional regulation by RUNX3 |
| reactome | R-HSA-8878159 | Transcriptional regulation by RUNX3 |
| reactome | R-HSA-8941856 | RUNX3 regulates NOTCH signaling |
| reactome | R-HSA-8941856 | RUNX3 regulates NOTCH signaling |
| reactome | R-HSA-9012852 | Signaling by NOTCH3 |
| reactome | R-HSA-9012852 | Signaling by NOTCH3 |
| reactome | R-HSA-9013508 | NOTCH3 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-9013508 | NOTCH3 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-9013694 | Signaling by NOTCH4 |
| reactome | R-HSA-9013694 | Signaling by NOTCH4 |
| reactome | R-HSA-9013695 | NOTCH4 Intracellular Domain Regulates Transcription |
| reactome | R-HSA-9013695 | NOTCH4 Intracellular Domain Regulates Transcription |
| kegg | hsa04330 | Notch signaling pathway - Homo sapiens (human) |
| kegg | hsa04658 | Th1 and Th2 cell differentiation - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| pid | hes_heypathway | Notch-mediated HES/HEY network |
| pid | notch_pathway | Notch signaling pathway |
| netpath | Pathway_Notch | Notch |
| wikipathways | WP3845 | Canonical and Non-canonical Notch signaling |
| wikipathways | WP61 | Notch Signaling Pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD60 | Quinoclamine | 3 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD356 | PNU-74654 | 2 |
| iGMDRD74 | Idarubicin | 3 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD100 | Zebularine | 6 |
| iGMDRD366 | PI-103 | 3 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD506 | Fedratinib | 3 |
| iGMDRD577 | BIX01294 | 3 |
| iGMDRD434 | BMS-536924 | 6 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD474 | Avrainvillamide | 2 |
| iGMDRD255 | SB225002 | 4 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD280 | CYTOCHALASIN B | 6 |
| iGMDRD435 | BI-2536 | 3 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD237 | ABT-751 | 1 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD193 | Fqi1 | 3 |
| iGMDRD351 | GW843682X | 3 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 3 |
| iGMDRD427 | ABT737 | 3 |
| iGMDRD116 | CD437 | 5 |
| iGMDRD150 | RITA | 3 |
| iGMDRD151 | CHM-1 | 3 |
| iGMDRD126 | Tipifarnib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MAML2
CLASSFICATION
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