Selected-GenAtlas references SOURCE GeneCards NCBI Gene Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol KMT2C contributors: mct/npt - updated : 23-01-2018
HGNC name myeloid/lymphoid or mixed-lineage leukemia 3
HGNC id 13726
Corresponding disease
KLEFS2 Kleefstra syndrome 2
Location 7q36.1      Physical location : -
Synonym name
  • ALR-like protein
  • histone-lysine N-methyltransferase, H3 lysine-4 specific
  • lysine N-methyltransferase 2C
  • homologous to ALR protein
    • Synonym symbol(s) KIAA1506, HALR, DKFZp686C08112, FLJ12625, FLJ38309, MGC119851, MGC119853, MGC119852, MLL3, KLEFS2
    EC.number 2.1.1.43
    DNA
    TYPE functioning gene
    STRUCTURE 301.10 kb     59 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    59 - 16872 - 4911 - 2003 12482968
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Reproductivemale systemtestis   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • a SUVAR3-9, enhancer of zeste, trithorax (SET) domain,
  • two plant homeodomain (PHD)-type zinc fingers, a high motility group (HMG)-1 box,
  • two FY (phenylalanine tyrosine-rich) domains
  • a leucine-zipper-like pattern, two potential transactivating domains, several nuclear localization signals
  • conserved WDR5 interaction (Win) motif
  • C-terminal SET domain directly interacts with SMARC8B1, an integral subunit of Swi/Snf (Lee 2009), and is a catalytic suppressor of variegation, enhancer of zeste, trithorax domain
    • HOMOLOGY
    interspecies homolog to fugu Mll2
    intraspecies homolog to MLL2
    Homologene
    FAMILY
  • TRX/MLL subfamily
  • SET1 family of histone H3 lysine 4 methyltransferases
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • may be involved in leukemogenesis and developmental disorders
  • contribution of MLL3 to the DNA damage response pathway through TP53 (Lee 2009)
  • plays crucial roles in adipogenesis (Lee 2008)
  • with NCOA6, MLL3, and MLL4 are recruited to FXR target genes in a ligand-dependent manner (Kim 2009)
  • is a clock-controlled factor that is able to directly and indirectly modulate over a hundred epigenetically targeted circadian "output" genes in the liver
  • KMT2C/KMT2D and H3K27 acetyltransferases CREBBP/EP300 are major enhancer epigenomic writers
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of COMPASS-like complex (Wu 2008)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • 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
  • ESR1, ESR2 coordinate with MLL and MLL3 in E2-mediated transcriptional regulation of HOXB9
  • KMT2C, KMT2D are broadly required for controlling MAFA and MAFB transactivation during development and postnatally
  • MAFB, which is important to beta-cell formation and coproduced with MAFA in adult pancreatic islet beta-cells, bound KMT2D and KMT2C complexes
  • WDR5 inhibits the monomethylation activity of the KMT2C core complex, which is dependent on the Win motif
  • FOXA1 recruits KMT2C to chromatin
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) KLEFS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    ID via EHMT1-associated chromatin modification module
    tumoral     --low  
    very important in the progression of esophageal squamous cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS