Gene Gene information from NCBI Gene database.
Entrez ID 4255
Gene name O-6-methylguanine-DNA methyltransferase
Gene symbol MGMT
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10q26.3
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
miRNA miRNA information provided by mirtarbase database.
45
miRTarBase ID miRNA Experiments Reference
MIRT006937 hsa-miR-181d-5p Luciferase reporter assayqRT-PCRWestern blot 22570426
MIRT006937 hsa-miR-181d-5p Luciferase reporter assayqRT-PCRWestern blot 22570426
MIRT438835 hsa-miR-661 Luciferase reporter assay 23340988
MIRT438835 hsa-miR-661 Luciferase reporter assay 23340988
MIRT438833 hsa-miR-370-3p Luciferase reporter assay 23340988
Transcription factors Transcription factors information provided by TRRUST V2 database.
11
Transcription factor Regulation Reference
DNMT1 Unknown 18555750
EP300 Unknown 22675172
HDAC1 Unknown 18555750
JUN Unknown 9731508
MBD1 Repression 15657354
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS 2188979
GO:0003824 Function Catalytic activity IEA
GO:0003908 Function Methylated-DNA-[protein]-cysteine S-methyltransferase activity IBA
GO:0003908 Function Methylated-DNA-[protein]-cysteine S-methyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
156569 7059 ENSG00000170430
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16455
Protein name Methylated-DNA--protein-cysteine methyltransferase (EC 2.1.1.63) (6-O-methylguanine-DNA methyltransferase) (MGMT) (O-6-methylguanine-DNA-alkyltransferase)
Protein function Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transferring the methyl group to a cysteine residue
PDB 1EH6 , 1EH7 , 1EH8 , 1QNT , 1T38 , 1T39 , 1YFH , 8RGG , 8RGH , 8RTY , 8RU2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02870 Methyltransf_1N 6 90 6-O-methylguanine DNA methyltransferase, ribonuclease-like domain Domain
PF01035 DNA_binding_1 93 174 6-O-methylguanine DNA methyltransferase, DNA binding domain Domain
Sequence
Sequence length 207
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    MGMT-mediated DNA damage reversal
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 19052983
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 12899712
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11448914, 11719438, 11753949, 12455028, 12473584, 12920593, 12941804, 15785933, 15942649, 15943786, 17204027, 18059232, 18223333, 18712569, 19027227
View all (4 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15943786, 18386788
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of duodenum Adenocarcinoma Of Duodenum BEFREE 27643594
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 16477636, 18386788
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 25015560
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11856482, 12941804, 21355081, 30723053
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 31199091
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 21450028
★☆☆☆☆
Found in Text Mining only