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FLASH GENE
Symbol MAML2 contributors: mct/npt/pgu - updated : 08-01-2018
HGNC name mastermind-like 2 (Drosophila)
HGNC id 16259
Location 11q21      Physical location : 95.711.439 - 96.076.344
Synonym name mastermind-like 2
Synonym symbol(s) MAM2, MAM3, MAML3, KIAA1819, MLL-MAML2, DKFZp686N0150, MGC176701
DNA
TYPE functioning gene
STRUCTURE 364.90 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 5428 - 1156 - 2007 17551948
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon  
 mouthtongue   
Lymphoid/Immunespleen    
Reproductivefemale systembreastmammary gland  
 female systemovary   
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one RRM (RNA recognition motif) domain
  • two consensus sites for SUMOylation at Lysine217 and Lysine299
  • conjugated FlavoP
    HOMOLOGY
    interspecies homolog to drosophila Maml2
    Homologene
    FAMILY
  • splicing factor sr family
  • mastermind family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • functioning as a CSL (CBF1, suppressor of hairless and Lag1)-dependent transcriptional coactivator for ligand-stimulated Notch
  • transcriptional regulators in Notch signaling
  • engagement of Mastermind (Mam) is essential for Notch signaling, and MAML1, MAML2, MAML3 have distinct roles
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MECT1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with CRTC1 in t(11;19) (q21;p13) in mucoepidermoid salivary gland carcinoma with a significantly lower risk of local recurrence, metastases, or tumor-related death compared to fusion-negative patients
    tumoral fusion      
    with CRTC1 in clear cell variants of cutaneous hidradenomas
    tumoral fusion      
    fusion genes CRTC1-MAML2 and CRTC3-MAML2 may play a similar role in the development of mucoepidermoid carcinomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • CRTC1/3-MAML2 fusion gene analysis can be a useful method for diagnosing hidradenoma
  • detection of the CRTC1/MAML2 fusion transcript provides useful information for mucoepidermoid carcinoma (MEC) diagnosis but is not associated with differences in survival outcomes
  • molecular detection of MAML2 rearrangement combined with FLT1 may be of important clinical value for Primary pulmonary mucoepidermoid carcinoma (PMEC)
  • Therapy target
    ANIMAL & CELL MODELS