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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MGMT
O-6-methylguanine-DNA methyltransferase
Chromosome 10 · 10q26.3
NCBI Gene: 4255Ensembl: ENSG00000170430.10HGNC: HGNC:7059UniProt: B4DEE8
800PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
RESEARCH IMPACT
Highly Studied
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of apoptotic processpositive regulation of double-strand break repairnucleoplasmmembraneAbnormality of the skeletal systemalcohol drinkingdiabetic neuropathyrestless legs syndrome
✦AI Summary

MGMT (O-6-methylguanine-DNA methyltransferase) is a DNA repair enzyme that removes alkyl adducts from the O6 position of guanine, protecting cells from mutagenic DNA damage induced by alkylating agents 1. The enzyme catalyzes a stoichiometric transfer of methyl groups to a cysteine residue, resulting in irreversible enzyme inactivation [UniProt]. MGMT expression is regulated at multiple levels: promoter/enhancer haplotypes alter transcription factor binding to modulate gene expression 2, while transcriptional co-activators like DDX5 interact with SP1, β-catenin, and RelA to enhance MGMT promoter activity 3. Gene body methylation additionally influences MGMT expression independently of promoter methylation status 4. MGMT has significant clinical relevance in cancer therapy: promoter hypermethylation correlates with improved chemosensitivity to alkylating agents like temozolomide (TMZ) in glioblastomas and pancreatic neuroendocrine tumors 56. Conversely, high MGMT expression confers chemoresistance to TMZ and correlates with poor progression-free survival 6. MGMT promoter methylation frequencies vary by cancer type (30-56% across gastrointestinal, lung, and brain tumors) 78, making MGMT methylation status a prognostic and predictive biomarker for treatment response and clinical outcomes.

Sources cited
1
MGMT reverses alkylating-agent-induced methylation by BCNU at O6 position of guanine; P140K variant is O6BG-resistant
PMID: 40398419
2
MGMT promoter/enhancer haplotypes alter transcription factor binding and modulate MGMT promoter activity
PMID: 27306526
3
MGMT promoter methylation frequency is 49.2% in glioblastomas and associates with IDH1 mutation and ATRX loss
PMID: 30038102
4
DDX5 acts as transcriptional co-activator of MGMT via interactions with SP1, β-catenin, and RelA at MGMT promoter
PMID: 37793472
5
High MGMT expression confers TMZ resistance in pancreatic neuroendocrine tumors; MGMT elevation negatively associates with progression-free survival
PMID: 39041891
6
MGMT gene body methylation positively correlates with mRNA expression and counteracts promoter methylation effects on chemosensitivity
PMID: 40464417
7
MGMT promoter methylation frequencies are 41.4%-44.2% in gastrointestinal cancers versus 13.3%-16.6% in controls
PMID: 28135856
8
MGMT promoter methylation occurs in 30% of non-small cell lung cancer cases and associates with TTF1-negative status
PMID: 35489124
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.49Moderate
alcohol drinkingOpen Targets
0.46Moderate
diabetic neuropathyOpen Targets
0.32Weak
restless legs syndromeOpen Targets
0.31Weak
movement disorderOpen Targets
0.30Weak
response to temozolomideOpen Targets
0.29Weak
lymphatic system diseaseOpen Targets
0.29Weak
response to bronchodilatorOpen Targets
0.28Weak
Alzheimer diseaseOpen Targets
0.28Weak
subarachnoid hemorrhageOpen Targets
0.27Weak
Nausea and vomitingOpen Targets
0.27Weak
nephrotic syndromeOpen Targets
0.26Weak
Abnormality of the integumentOpen Targets
0.25Weak
tineaOpen Targets
0.22Weak
chondrocalcinosisOpen Targets
0.22Weak
gastrointestinal stromal tumorOpen Targets
0.21Weak
hepatocellular carcinomaOpen Targets
0.21Weak
melanomaOpen Targets
0.21Weak
head and neck squamous cell carcinomaOpen Targets
0.20Weak
esophageal squamous cell carcinomaOpen Targets
0.20Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EXO1Protein interaction100%MSH2Protein interaction100%PMS2Protein interaction100%MSH6Protein interaction100%CDKN1AProtein interaction100%ATRXProtein interaction98%
Tissue Expression6 tissues
Liver
100%
Ovary
21%
Heart
20%
Bone Marrow
16%
Lung
15%
Brain
5%
Gene Interaction Network
Click a node to explore
MGMTEXO1MSH2PMS2MSH6CDKN1AATRX
PROTEIN STRUCTURE
Preparing viewer…
PDB1QNT · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.41LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.61–1.41]
RankingsWhere MGMT stands among ~20K protein-coding genes
  • #244of 20,598
    Most Researched800 · top 5%
  • #14,597of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedMGMT
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Identifying active and inhibitor-resistant MGMT variants for gene therapy.
PMID: 40398419
Am J Hum Genet · 2025
1.00
2
DNA-Targeted Inhibition of MGMT.
PMID: 28177192
Chembiochem · 2017
0.92
3
MGMT DNA repair gene promoter/enhancer haplotypes alter transcription factor binding and gene expression.
PMID: 27306526
Cell Oncol (Dordr) · 2016
0.90
4
Genomic Space of
PMID: 33801310
Int J Mol Sci · 2021
0.86
5
PARP1-MGMT complex underpins pathway crosstalk in O
PMID: 36242092
J Hematol Oncol · 2022
0.84