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

Gene ID: 4255, updated on 6-Dec-2023

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

See MGMT in Genome Data Viewer
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 dealkylation involved in DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA ligation TAS
Traceable Author Statement
more info
PubMed 
involved_in DNA methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA repair IBA
Inferred from Biological aspect of Ancestor
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)

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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)