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FLASH GENE

Symbol

MGMT

contributors: mct/npt - updated : 15-12-2009

HGNC name	O-6-methylguanine-DNA methyltransferase
HGNC id	7059

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10q26.3      Physical location : 131.265.453 - 131.565.783
Synonym name	methylguanine-DNA methyltransferase
EC.number	2.1.1.63

DNA

TYPE	functioning gene
STRUCTURE	300.33 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002412 5 - 1265 NP_002403 - 238 - Zhong (2009)

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine         stomach         Reproductive female system uterus cervix   highly   female system ovary         male system prostate       Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

conjugated

PhosphoP

HOMOLOGY

Homologene

FAMILY

MGMT family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) in DNA
	repairing alkylated guanine in DNA by stoichiometrically transferring the alkyl group at the O-6 position to a cysteine residue in the enzyme
	DNA repair protein that restores mutagenic O(6)-methylguanine to guanine (Hawkins 2009)

CELLULAR PROCESS

nucleotide, repair

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

cell & other

REGULATION

inhibited by

oligodeoxyribonucleotides (ODNs) containing O6-(4-bromothenyl)guanine

repressed by

methylation of CpG sequences in both promoter and neighboring regions of the gene, resulting in inactive, condensed chromatin state of the gene

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   expression in the tumors inversely linked to hypermethylation of the CpG island in the promoter region tumoral       loss of function by hypermethylation in non seminoma germ cell tumor tumoral     --low   by methylation frequently observed in sporadic colorectal cancer and recently correlated with the C>T allele at SNP rs16906252, within the transcriptional enhancer element of the promoter (Hawkins 2009)

Susceptibility

to esophageal adenocarcinoma (EAC)

Variant & Polymorphism SNP	SNPs are associated with increased risks of EAC and exposure to acid reflux, and possibly smoking, confer markedly higher risks among homozygous variant genotype carriers (Doecke 2008)

Candidate gene	detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection
Marker
Therapy target

ANIMAL & CELL MODELS