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FLASH GENE
Symbol MGMT contributors: mct/npt - updated : 15-12-2009
HGNC name O-6-methylguanine-DNA methyltransferase
HGNC id 7059
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
conjugated PhosphoP
HOMOLOGY
Homologene
FAMILY
  • MGMT family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) in DNA
  • repairing alkylated guanine in DNA by stoichiometrically transferring the alkyl group at the O-6 position to a cysteine residue in the enzyme
  • DNA repair protein that restores mutagenic O(6)-methylguanine to guanine (Hawkins 2009)
    • CELLULAR PROCESS nucleotide, repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by oligodeoxyribonucleotides (ODNs) containing O6-(4-bromothenyl)guanine
    repressed by methylation of CpG sequences in both promoter and neighboring regions of the gene, resulting in inactive, condensed chromatin state of the gene
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    expression in the tumors inversely linked to hypermethylation of the CpG island in the promoter region
    tumoral       loss of function
    by hypermethylation in non seminoma germ cell tumor
    tumoral     --low  
    by methylation frequently observed in sporadic colorectal cancer and recently correlated with the C>T allele at SNP rs16906252, within the transcriptional enhancer element of the promoter (Hawkins 2009)
    Susceptibility to esophageal adenocarcinoma (EAC)
    Variant & Polymorphism SNP SNPs are associated with increased risks of EAC and exposure to acid reflux, and possibly smoking, confer markedly higher risks among homozygous variant genotype carriers (Doecke 2008)
    Candidate gene detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection
    Marker
    Therapy target
    ANIMAL & CELL MODELS