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FLASH GENE
Symbol KMT2B contributors: mct/npt - updated : 02-01-2017
HGNC name lysine methyltransferase 2B
HGNC id 15840
Corresponding disease
DYT28 dystonia 22
Location 19q13.11      Physical location : -
Genatlas name myeloid/lymphoid or mixed-lineage leukemia 4
Synonym name
  • protein involved in chromatin revolving remodeling Drosophila trithorax (TRX) homolog 2
  • mixed lineage leukemia gene homolog 2
  • trithorax homologue 2
  • WW domain binding protein 7
  • histone-lysine N-methyltransferase MLL4
  • lysine (K)-specific methyltransferase 2B
  • Synonym symbol(s) KIAA0304, MLL2, HRX2, TRX2, WBP7, MLL4, MLL1B, WBP-7, CXXC10
    EC.number 2.1.1.43
    DNA
    TYPE functioning gene
    STRUCTURE 20.86 kb     37 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - UPK1A - TYMSL - ZNF145L - MLL4 - U2AF1L4 - CRYABL - CHN1L - PRODH2 - NPHS1 NPHS1 - APLP1 - qter
    Authors Fitzgerald (99)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 splicing 8469 293.5 2715 - FitzGerald, Lee (2009)
    - splicing - - - - Fitz Gerald
    truncated isoform
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinelarge intestinecolon  
    Endocrineneuroendocrinepituitary  highly
    Lymphoid/Immunelymph node   highly
    Nervousbrainhindbraincerebellum predominantly Homo sapiens
    Reproductivefemale systemovary   
     male systemtestis  highly
    Respiratoryrespiratory tractlarynx  highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumcardiac  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a bromodomain
  • two FY-rich domains
  • three PHD-type zinc fingers and a CXXC-type zinc finger
  • C-terminal SET domain directly interacts with SMARC8B1, an integral subunit of Swi/Snf (Lee 2009)
  • HOMOLOGY
    interspecies homolog to Drosophila trithorax hrx
    intraspecies homolog to MLL gene chromosome 11
    Homologene
    FAMILY
  • transcription factor trithorax family
  • TRX/MLL family
  • MLL subfamily of H3K4-specific histone lysine methyltransferases
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • acting as a transcriptional regulatory factor
  • with NCOA6, MLL3, and MLL4 are recruited to FXR target genes in a ligand-dependent manner (Kim 2009)
  • crucial component for establishing and maintaining the transcriptionally active and unmethylated state of CpG island promoters
  • mediates hippocampal histone 3 lysine 4 di- and trimethylation and is a critical player for memory formation
  • regulation of transcription by the KMT2B complex and MLL complex-associated AKAP8
  • crucial role of KMT2B in the physiological control of voluntary movement
  • histone lysine methyltransferase involved in methylation of histone H3 at lysine 4 (H3K4), an important epigenetic modification associated with active gene transcription
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of COMPASS-like complex (Wu 2008)
  • with NCOA6, forms a steady-state complex, named ASCOM (for ASC2 COMplex), that contains the histone H3-lysine-4 (H3K4)-methyltransferase MLL3 or its paralogue MLL4 (Lee 2009)
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • important role for KMT2B in the epigenetic transcriptional regulation of cytokine IL20, and other ESR1-responsive genes, in breast cancer cells
  • in the presence of KMT2B, neither transcription elongation nor RNA polymerase II binding is required to maintain H3K4 trimethylation at the MAGOHB promoter and protect it from DNA methylation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DYT28
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       protein chimeric
    pancreatic carcinoma
    tumoral   translocation    
  • fused with EPS15 t(1;11); MLLT2 t(4;11); MLLT4 t(6;11); MLLT3 t(9;11); CALM t(10;11); AF10 t(10;11); CREBBP t(11;16); MLLT6 t(11;17); FOXO4 t(X;11); CDCREL1 t(11;22); EEN t(11;19) or MLLT1 t(11;19) in mixed lineage leukemia
  • tumoral   amplification    
    in pancreatic carcinoma
    tumoral fusion      
    fusion gene MLL4-GPS2 in undifferentiated spindle cell sarcoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    inhibition of IL20 and KMT2B may have therapeutic benefits in ESR1-positive breast cancer
    ANIMAL & CELL MODELS