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    MGMT O-6-methylguanine-DNA methyltransferase [ Homo sapiens (human) ]

    Gene ID: 4255, updated on 22-Apr-2024

    Summary

    Official Symbol
    MGMTprovided by HGNC
    Official Full Name
    O-6-methylguanine-DNA methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:7059
    See related
    Ensembl:ENSG00000170430 MIM:156569; AllianceGenome:HGNC:7059
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015]
    Expression
    Ubiquitous expression in liver (RPKM 6.2), kidney (RPKM 3.0) and 25 other tissues See more
    Orthologs
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    Genomic context

    Location:
    10q26.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (129467241..129770983)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (130392352..130697970)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (131265505..131569247)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378556 Neighboring gene uncharacterized LOC105378557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131196103-131196603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131195602-131196102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131217643-131218487 Neighboring gene NANOG hESC enhancer GRCh37_chr10:131244371-131244891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131265371-131266293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131271703-131272392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131273771-131274459 Neighboring gene MPRA-validated peak1129 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:131292750-131293391 Neighboring gene uncharacterized LOC124902531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131318758-131319273 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131320305-131320819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131329433-131330277 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131330278-131331122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131344545-131345044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4203 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131378975-131379951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131389051-131389616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131391090-131391764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4204 Neighboring gene VISTA enhancer hs656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2939 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:131474191-131474764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131483209-131483710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131483711-131484210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131489399-131490266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131491009-131491509 Neighboring gene uncharacterized LOC105378560 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:131509515-131510230 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:131516429-131517628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131542389-131542890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131542891-131543390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131560022-131560594 Neighboring gene uncharacterized LOC107984281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131571913-131572610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:131664970-131665634 Neighboring gene microRNA 4297 Neighboring gene EBF3 antisense RNA 1 Neighboring gene EBF transcription factor 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association analysis of temozolomide response using lymphoblastoid cell lines shows a clinically relevant association with MGMT.
    EBI GWAS Catalog
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-methyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables methylated-DNA-[protein]-cysteine S-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables methyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA alkylation repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA ligation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of double-strand break repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    methylated-DNA--protein-cysteine methyltransferase
    Names
    6-O-methylguanine-DNA methyltransferase
    O-6-methylguanine-DNA-alkyltransferase
    O6-methylguanine-DNA methyltransferase
    methylguanine-DNA methyltransferase
    NP_002403.3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052673.1 RefSeqGene

      Range
      5058..308800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002412.5NP_002403.3  methylated-DNA--protein-cysteine methyltransferase

      Status: REVIEWED

      Source sequence(s)
      AK293593, AL157832
      Consensus CDS
      CCDS7660.3
      UniProtKB/Swiss-Prot
      P16455, Q5VY78
      UniProtKB/TrEMBL
      B4DEE8
      Related
      ENSP00000498729.1, ENST00000651593.1
      Conserved Domains (2) summary
      COG0350
      Location:7173
      AdaB; O6-methylguanine-DNA--protein-cysteine methyltransferase [Replication, recombination and repair]
      TIGR00589
      Location:93172
      ogt; O-6-methylguanine DNA methyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      129467241..129770983
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      130392352..130697970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)