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

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: mouse all
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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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Constitutional BRCA1 and MGMT Methylation Are Significant Risk Factors for Triple-Negative Breast Cancer and High-Grade Serous Ovarian Cancer in Saudi Women.
Title: Constitutional BRCA1 and MGMT Methylation Are Significant Risk Factors for Triple-Negative Breast Cancer and High-Grade Serous Ovarian Cancer in Saudi Women.
Proteomic and metabolomic analyses illustrate the mechanisms of expression of the O[6] -methylguanine-DNA methyltransferase gene in glioblastoma.
Title: Proteomic and metabolomic analyses illustrate the mechanisms of expression of the O(6) -methylguanine-DNA methyltransferase gene in glioblastoma.
Glioblastoma with high O6-methyl-guanine DNA methyltransferase expression are more immunologically active than tumors with low MGMT expression.
Title: Glioblastoma with high O6-methyl-guanine DNA methyltransferase expression are more immunologically active than tumors with low MGMT expression.
Circadian regulation of MGMT expression and promoter methylation underlies daily rhythms in TMZ sensitivity in glioblastoma.
Title: Circadian regulation of MGMT expression and promoter methylation underlies daily rhythms in TMZ sensitivity in glioblastoma.
Pyrosequencing Analysis of O-6-Methylguanine-DNA Methyltransferase Methylation at Different Cut-Offs of Positivity Associated with Treatment Response and Disease-Specific Survival in Isocitrate Dehydrogenase-Wildtype Grade 4 Glioblastoma.
Title: Pyrosequencing Analysis of O-6-Methylguanine-DNA Methyltransferase Methylation at Different Cut-Offs of Positivity Associated with Treatment Response and Disease-Specific Survival in Isocitrate Dehydrogenase-Wildtype Grade 4 Glioblastoma.
IDH1-mutated Crohn's disease-associated small bowel adenocarcinomas: Distinctive pathological features and association with MGMT methylation and serrated-type dysplasia.
Title: IDH1-mutated Crohn's disease-associated small bowel adenocarcinomas: Distinctive pathological features and association with MGMT methylation and serrated-type dysplasia.
Cognitive functioning is prognostic in patients with IDH1-wild type and MGMT-unmethylated high-grade gliomas.
Title: Cognitive functioning is prognostic in patients with IDH1-wild type and MGMT-unmethylated high-grade gliomas.
Mass Spectrometric Analysis of the Active Site Tryptic Peptide of Recombinant O[6]-Methylguanine-DNA Methyltransferase Following Incubation with Human Colorectal DNA Reveals the Presence of an O[6]-Alkylguanine Adductome.
Title: Mass Spectrometric Analysis of the Active Site Tryptic Peptide of Recombinant O(6)-Methylguanine-DNA Methyltransferase Following Incubation with Human Colorectal DNA Reveals the Presence of an O(6)-Alkylguanine Adductome.
Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
Title: Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
Total DNA methylation profile in assessing the MGMT gene promoter status in malignant gliomas.
Title: Total DNA methylation profile in assessing the MGMT gene promoter status in malignant gliomas.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-148919 (e-PCR)
- UniSTS:173074

MGMT_7829 (e-PCR)
- UniSTS:467774

G67483 (e-PCR)
- UniSTS:186719

G67484 (e-PCR)
- UniSTS:186720

csnpmgmt-pcr3-1 (e-PCR)
- UniSTS:243053

csnpmgmt-pcr4-1 (e-PCR)
- UniSTS:243054

PMC140684P9 (e-PCR)
- UniSTS:270968

G38294 (e-PCR)
- UniSTS:74473

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 more info	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

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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

EC 2.1.1.63

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

NG_052673.1 RefSeqGene

Range

5058..308800

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002412.5 → NP_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:7 → 173

AdaB; O6-methylguanine-DNA--protein-cysteine methyltransferase [Replication, recombination and repair]

TIGR00589
Location:93 → 172

ogt; O-6-methylguanine DNA methyltransferase