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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
mastermind like transcriptional coactivator 2MIM:607537Ensembl:ENSG00000184384HGNC:HGNC:16259PA13494632711q21

GO terms in MAML2


Term TypeEvidence TypeGO Term IDGO Des.
BPTASGO:0006367transcription initiation from RNA polymerase II promoter
BPIDAGO:0007219Notch signaling pathway
BPTASGO:0007219Notch signaling pathway
BPIBAGO:0007221positive regulation of transcription of Notch receptor target
BPTASGO:0007221positive regulation of transcription of Notch receptor target
BPTASGO:0045747positive regulation of Notch signaling pathway
BPIDAGO:0045944positive regulation of transcription by RNA polymerase II
CCIDAGO:0005634nucleus
CCIBAGO:0005654nucleoplasm
CCTASGO:0005654nucleoplasm
CCIEAGO:0016607nuclear speck
MFIBAGO:0003713transcription coactivator activity
MFIDAGO:0003713transcription coactivator activity

Gene expression in normal tissue: MAML2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in MAML2


DatabasePathway IDPathway Des.
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-157118Signaling by NOTCH
reactomeR-HSA-157118Signaling by NOTCH
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1643685Disease
reactomeR-HSA-186712Regulation of beta-cell development
reactomeR-HSA-1912408Pre-NOTCH Transcription and Translation
reactomeR-HSA-1912408Pre-NOTCH Transcription and Translation
reactomeR-HSA-1912422Pre-NOTCH Expression and Processing
reactomeR-HSA-1912422Pre-NOTCH Expression and Processing
reactomeR-HSA-1980143Signaling by NOTCH1
reactomeR-HSA-1980143Signaling by NOTCH1
reactomeR-HSA-1980145Signaling by NOTCH2
reactomeR-HSA-1980145Signaling by NOTCH2
reactomeR-HSA-210744Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
reactomeR-HSA-2122947NOTCH1 Intracellular Domain Regulates Transcription
reactomeR-HSA-2122947NOTCH1 Intracellular Domain Regulates Transcription
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-2197563NOTCH2 intracellular domain regulates transcription
reactomeR-HSA-2197563NOTCH2 intracellular domain regulates transcription
reactomeR-HSA-2644602Signaling by NOTCH1 PEST Domain Mutants in Cancer
reactomeR-HSA-2644603Signaling by NOTCH1 in Cancer
reactomeR-HSA-2644606Constitutive Signaling by NOTCH1 PEST Domain Mutants
reactomeR-HSA-2894858Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
reactomeR-HSA-2894862Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
reactomeR-HSA-350054Notch-HLH transcription pathway
reactomeR-HSA-5663202Diseases of signal transduction
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-8878159Transcriptional regulation by RUNX3
reactomeR-HSA-8878159Transcriptional regulation by RUNX3
reactomeR-HSA-8941856RUNX3 regulates NOTCH signaling
reactomeR-HSA-8941856RUNX3 regulates NOTCH signaling
reactomeR-HSA-9012852Signaling by NOTCH3
reactomeR-HSA-9012852Signaling by NOTCH3
reactomeR-HSA-9013508NOTCH3 Intracellular Domain Regulates Transcription
reactomeR-HSA-9013508NOTCH3 Intracellular Domain Regulates Transcription
reactomeR-HSA-9013694Signaling by NOTCH4
reactomeR-HSA-9013694Signaling by NOTCH4
reactomeR-HSA-9013695NOTCH4 Intracellular Domain Regulates Transcription
reactomeR-HSA-9013695NOTCH4 Intracellular Domain Regulates Transcription
kegghsa04330Notch signaling pathway - Homo sapiens (human)
kegghsa04658Th1 and Th2 cell differentiation - Homo sapiens (human)
kegghsa05165Human papillomavirus infection - Homo sapiens (human)
pidhes_heypathwayNotch-mediated HES/HEY network
pidnotch_pathwayNotch signaling pathway
netpathPathway_NotchNotch
wikipathwaysWP3845Canonical and Non-canonical Notch signaling
wikipathwaysWP61Notch Signaling Pathway

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD60Quinoclamine3
iGMDRD64Parbendazole3
iGMDRD356PNU-746542
iGMDRD74Idarubicin3
iGMDRD399Selumetinib3
iGMDRD188Piperlongumine3
iGMDRD871BRD63683
iGMDRD100Zebularine6
iGMDRD366PI-1033
iGMDRD398Sepantronium2
iGMDRD506Fedratinib3
iGMDRD577BIX012943
iGMDRD434BMS-5369246
iGMDRD137Indisulam2
iGMDRD474Avrainvillamide2
iGMDRD255SB2250024
iGMDRD123Isoevodiamine3
iGMDRD280CYTOCHALASIN B6
iGMDRD435BI-25363
iGMDRD446LY 21832401
iGMDRD237ABT-7511
iGMDRD61Kinetin riboside3
iGMDRD193Fqi13
iGMDRD351GW843682X3
iGMDRD345Compound 10b [PMID: 11504634]3
iGMDRD427ABT7373
iGMDRD116CD4375
iGMDRD150RITA3
iGMDRD151CHM-13
iGMDRD126Tipifarnib1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in MAML2

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