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FLASH GENE
Symbol KMT2D contributors: mct/npt - updated : 28-04-2015
HGNC name lysine (K)-specific methyltransferase 2B
HGNC id 7133
Corresponding disease
KABUK1 Kabuki syndrome 1
Location 12q13.12      Physical location : -
Synonym name
  • ALL-1 (HRX) related gene
  • trinucleotide repeat containing 21
  • lysine N-methyltransferase 2B
  • myeloid/lymphoid or mixed-lineage leukemia 2
  • Synonym symbol(s) ALR, MLL4, CAGL114, AAD10, TNRC21, MLL2, WBP7, KIAA0304
    EC.number 2.1.1.43
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 36.35 kb     54 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 15789 564 5262 - 2012 23129768
    also called AF010404
    - splicing 14874 532 4957 - 2012 23129768
  • also called AF010404
  • lacking a N terminal zinc finger
  • 54 - 19432 - 5537 - 2012 23129768
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Digestiveliver    
    Endocrinepancreas    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage variety of hematopoietic cells
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SET domain multifunctional chromatin regulator (130AA)
  • five PHD (C4-H-C3) zinc finger motifs
  • a C terminal Drosophila trithorax motif
  • a homodomain, a long run of glutamines
  • two LXXLL motifs in a region near the C terminus, that appears to be a promising target for therapies aimed at MLL fusion proteins without affecting the general function of other MLL family members (Bach 2009)
  • HOMOLOGY
    interspecies homolog to Drosophila trithorax
    Homologene
    FAMILY
  • histone-lysine methyltransferase family
  • MLL family, which belongs to a larger SET1 family of histone methyltransferases
  • CATEGORY enzyme , signaling growth factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in acute leukemia
  • central role for the MLL2 complex in the growth of ESR1-positive cancer cells (Mo 2006)
  • transcriptional activator inducing the transcription of target genes by covalent histone modification and involved in the regulation of adhesion-related cytoskeletal events, which might affect cell growth and survival (Issaeva 2007)
  • controls most of the promoter-specific chromatin modification, H3K4me3, during oogenesis and early development
  • contributes to the epigenetic reprogramming that takes place before fertilization
  • specialized biological role in macrophage function and antimicrobial response
  • its reexpression was sufficient to reinstate an active MAGOHB promoter
  • mediates hippocampal histone 3 lysine 4 di- and trimethylation and is a critical player for memory formation
  • histone H3K4 methyltransferase that is a component of the genetic regulation necessary for glucose homeostasis, resulting in a specific disease pattern linking chromatin modification with causes and progression of type 2 diabetes
  • required for H3K4 trimethylation on bivalent promoters in embryonic stem cell
  • KMT2C, KMT2D are broadly required for controlling MAFA and MAFB transactivation during development and postnatally
  • KMT2C/KMT2D and H3K27 acetyltransferases CREBBP/EP300 are major enhancer epigenomic writers
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of COMPASS-like complex (Wu 2008)
  • present within a stable multiprotein complex containing a cohort of proteins shared with other SET1 family complexes and several unique components, such as PTIP and the jumonji family member UTX (Issaeva 2007)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CXXC1 (interacts with MLL1, MLL2 as well as SETD1A and plays critical roles in regulations of MLL target genes) (Ansari 2008)
  • binds ESR1 directly (binds to the MLL2 complex through two LXXLL motifs in a region of MLL2 near the C terminus in a ligand-dependent manner) (Mo 2006)
  • HOXC6 is an E2-responsive gene, and histone methylases KMT2D and KMT2C, in coordination with ESR1 and ESR2, transcriptionally regulate HOXC6 in an E2-dependent manner
  • required for the expression of PIGP, an essential component of the GPI-GlcNAc transferase, the enzyme catalyzing the first step of glycosylphosphatidylinositol (GPI) anchor synthesis
  • KMT2C, KMT2D are broadly required for controlling MAFA and MAFB transactivation during development and postnatally
  • molecular link between CHD7 and KMT2D function likely via their known interaction with members of the WAR complex (WDR5, ASH2L, RBBP5) which has been shown to be involved in histone methylation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) KABUK1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking mll2/kmt2b gene in adult forebrain excitatory neurons display impaired hippocampus-dependent memory function
  • mice heterozygous for two separate mutations in the SET domain of Mll2 or heterozygous Mll2 knockout mice were hyperglycaemic, hyperinsulinaemic and developed non-alcoholic fatty liver disease (PMIX: 23826075)