• Gene id: 4255

Gene Summary

• Gene Symbol: MGMT   Gene   UCSC   Ensembl
• Gene name: O-6-methylguanine-DNA methyltransferase
• Alternate names: methylated-DNA--protein-cysteine methyltransferase, 6-O-methylguanine-DNA methyltransferase, O-6-methylguanine-DNA-alkyltransferase, O6-methylguanine-DNA methyltransferase, methylguanine-DNA methyltransferase,
• Gene location: 10q26.3 (129467183: 129770982)     Exons: 6     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 156569

Protein Summary

• Protein general information: P16455  
  • Name: Methylated DNA protein cysteine methyltransferase (EC 2.1.1.63) (6 O methylguanine DNA methyltransferase) (MGMT) (O 6 methylguanine DNA alkyltransferase)
  • Length: 207  
  • Mass: 21,646
• Sequence:

  MDKDCEMKRTTLDSPLGKLELSGCEQGLHEIKLLGKGTSAADAVEVPAPAAVLGGPEPLMQCTAWLNAYFHQPEA
  IEEFPVPALHHPVFQQESFTRQVLWKLLKVVKFGEVISYQQLAALAGNPKAARAVGGAMRGNPVPILIPCHRVVC
  SSGAVGNYSGGLAVKEWLLAHEGHRLGKPGLGGSSGLAGAWLKGAGATSGSPPAGRN

• Structural information:
  • Interpro: IPR001497  IPR014048  IPR036217  IPR008332  IPR036631   IPR036388  
  • Prosite: PS00374
  • CDD: cd06445
  • PDB: 1EH6 1EH7 1EH8 1QNT 1T38 1T39 1YFH
  • PDBsum: 1EH6 1EH7 1EH8 1QNT 1T38 1T39 1YFH
  • STRING: ENSP00000302111
• Other Databases: GeneCards:  MGMT  Malacards:  MGMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	TAS	molecular function
GO:0003684	damaged DNA binding	IBA	molecular function
GO:0003908	methylated-DNA-[protein]-cysteine S-methyltransferase activity	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006266	DNA ligation	TAS	biological process
GO:0006306	DNA methylation	IEA	biological process
GO:0006307	DNA dealkylation involved in DNA repair	IBA	biological process
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0009008	DNA-methyltransferase activity	TAS	molecular function
GO:0009636	response to toxic substance	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043281	regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0051593	response to folic acid	IEA	biological process
GO:0060644	mammary gland epithelial cell differentiation	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071479	cellular response to ionizing radiation	IEA	biological process
GO:2000781	positive regulation of double-strand break repair	IDA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003684	damaged DNA binding	IBA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0003908	methylated-DNA-[protein]-cysteine S-methyltransferase activity	IEA	molecular function
GO:0003908	methylated-DNA-[protein]-cysteine S-methyltransferase activity	IEA	molecular function
GO:0003908	methylated-DNA-[protein]-cysteine S-methyltransferase activity	IEA	molecular function
GO:0003908	methylated-DNA-[protein]-cysteine S-methyltransferase activity	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006266	DNA ligation	TAS	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006306	DNA methylation	IEA	biological process
GO:0006307	DNA dealkylation involved in DNA repair	IEA	biological process
GO:0006307	DNA dealkylation involved in DNA repair	IBA	biological process
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0009008	DNA-methyltransferase activity	TAS	molecular function
GO:0009636	response to toxic substance	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043281	regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0045739	positive regulation of DNA repair	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051593	response to folic acid	IEA	biological process
GO:0060548	negative regulation of cell death	IEA	biological process
GO:0060644	mammary gland epithelial cell differentiation	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0071479	cellular response to ionizing radiation	IEA	biological process
GO:2000781	positive regulation of double-strand break repair	IDA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0003684	damaged DNA binding	IBA	molecular function
GO:0003908	methylated-DNA-[protein]-cysteine S-methyltransferase activity	IBA	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006266	DNA ligation	TAS	biological process
GO:0006307	DNA dealkylation involved in DNA repair	IBA	biological process
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0008168	methyltransferase activity	TAS	molecular function
GO:0009008	DNA-methyltransferase activity	TAS	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:2000781	positive regulation of double-strand break repair	IDA	biological process

Diseases

Associated diseases	References
Cancer (head and neck)	GAD: 20206583
Cancer (pancreatic)	GAD: 16844323
Cancer (Biliary tract neoplasms)	GAD: 18708406
Cancer (Adenocarcinoma)	GAD: 18386788
Cancer (stomach)	GAD: 15802298
Cancer (Aerodigestive tract)	GAD: 17040931
Cancer (prostate)	GAD: 16030105
Cancer (glioblastoma)	GAD: 19100509
Cancer	GAD: 20061190
Cancer (lung)	GAD: 16195237
Cancer (esophageal)	GAD: 15327835
Cancer (oral)	GAD: 16369171
Cancer (colorectal)	GAD: 16284370
Cancer (brain)	GAD: 16030116
Cancer (bladder)	GAD: 15885889
Cancer (leukemia)	GAD: 19052983
Cancer	GAD: 19116388
Cancer (melanoma)	GAD: 12402349
Cancer (endometrial)	GAD: 16777993
Cancer (cervical)	GAD: 17234722
Cancer (Squamous cell)	GAD: 20128036
Cancer (Chronic B-Cell Leukemias)	GAD: 21121903
Cancer (lymphoma)	GAD: 19954624
Cancer (breast)	GAD: 16014702
Spinal dysraphism	GAD: 19161160
Spinal dysraphism	GAD: 19161160
Alzheimer's disease	GAD: 16385451
Alzheimer's disease	GAD: 16385451
Globozoospermia	MIK: 25762640
Globozoospermia	MIK: 25762640
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Chronic renal failure	GAD: 21085059
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Globozoospermia	MIK: 25762640
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25762640	Globozoospermia				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray