GSTM2 glutathione S-transferase mu 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GSTM2provided by HGNC
Official Full Name: glutathione S-transferase mu 2provided by HGNC
Primary source: HGNC:HGNC:4634
See related: Ensembl:ENSG00000213366 MIM:138380; AllianceGenome:HGNC:4634
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
Also known as: GST4; GSTM; GTHMUS; GSTM2-2
Summary: Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 68.7), skin (RPKM 43.2) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 1p13.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (109668057..109683997)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (109696172..109703776)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (110210679..110226619)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

GSTM2 is a key molecular determinant of resistance to SG-ARIs.
Title: GSTM2 is a key molecular determinant of resistance to SG-ARIs.
Cellular Trafficking of Glutathione Transferase M2-2 Between U373MG and SHSY-S7 Cells is Mediated by Exosomes.
Title: Cellular Trafficking of Glutathione Transferase M2-2 Between U373MG and SHSY-S7 Cells is Mediated by Exosomes.
Small Extracellular Vesicles Have GST Activity and Ameliorate Senescence-Related Tissue Damage.
Title: Small Extracellular Vesicles Have GST Activity and Ameliorate Senescence-Related Tissue Damage.
the methylation status of CpG sites in GFRA1 and GSTM2 may have a role and could be used as potential biomarkers for the screening of rectal cancer
Title: Integrated analysis of genome-wide DNA methylation and gene expression profiles identifies potential novel biomarkers of rectal cancer.
The absence of GSTM1 and GSTT1 genes increases the risk of lung cancer because of radon exposure.
Title: Genetic susceptibility, residential radon, and lung cancer in a radon prone area.
the absence of GSTM1 activity can be compensated for by the overexpression of GSTM2.
Title: Functional compensation of glutathione S-transferase M1 (GSTM1) null by another GST superfamily member, GSTM2.
demonstrated that the GSTM1 and GSTT1 null genotype may be associated with an increased risk of Hepatocellular carcinoma (HCC) and that individuals having the combination of both defective GST genotypes may be more susceptible to developing HCC
Title: Quantitative assessment of the effect of glutathione S-transferase genes GSTM1 and GSTT1 on hepatocellular carcinoma risk.
High expression of GSTM1 and GSTM4, along with increased endogenous reduced glutathione levels, help to maintain a more reduced state of cytochrome c which decreases apoptosis thus contributing to methotrexate resistance in human MCF7 breast cancer cells.
Title: The redox state of cytochrome c modulates resistance to methotrexate in human MCF7 breast cancer cells.
GST-M2 exhibited high frequency of promoter hypermethylation in lung cancer cells, CpG hypermethylation abated Sp1 binding to the GST-M2 promoter in lung cancer
Title: Epigenetic mechanisms for silencing glutathione S-transferase m2 expression by hypermethylated specificity protein 1 binding in lung cancer.
it was noted that the alpha-6 helix of GST-C plays a stabilising role in the fold of this domain. By destabilising the conformation of GST-C, an increase in cell translocation efficiency of up to approximately 2-fold was observed.
Title: A structural basis for cellular uptake of GST-fold proteins.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:33073

SHGC-12332 (e-PCR)
- UniSTS:33074

RH65389 (e-PCR)
- UniSTS:69688

G67221 (e-PCR)
- UniSTS:186431

G67222 (e-PCR)
- UniSTS:186432

G62022 (e-PCR)
- UniSTS:139106

NoName (e-PCR)
- UniSTS:488048

D6S1881 (e-PCR)
- UniSTS:22704

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables fatty acid binding	IPI Inferred from Physical Interaction more info	PubMed
enables glutathione binding	IDA Inferred from Direct Assay more info	PubMed
enables glutathione peroxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables glutathione transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutathione transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular detoxification of nitrogen compound	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in cellular response to caffeine	IDA Inferred from Direct Assay more info	PubMed
involved_in glutathione metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glutathione metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in hepoxilin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in linoleic acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in nitrobenzene metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ryanodine-sensitive calcium-release channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IC Inferred by Curator more info	PubMed
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	IC Inferred by Curator more info	PubMed
involved_in relaxation of cardiac muscle	TAS Traceable Author Statement more info	PubMed
involved_in xenobiotic catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: glutathione S-transferase Mu 2

Names: GST class-mu 2; GST, muscle; S-(hydroxyalkyl)glutathione lyase M2; epididymis secretory sperm binding protein; glutathione S-alkyltransferase M2; glutathione S-aralkyltransferase M2; glutathione S-aryltransferase M2; glutathione S-transferase 4; glutathione S-transferase M1; glutathione S-transferase M2 (muscle); glutathione S-transferase mu 2 (muscle)

NP_000839.1

EC 2.5.1.18

NP_001135840.1

EC 2.5.1.18

XP_047299631.1

EC 2.5.1.18

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.

mRNA and Protein(s)

NM_000848.4 → NP_000839.1 glutathione S-transferase Mu 2 isoform 1

See identical proteins and their annotated locations for NP_000839.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).

Source sequence(s)

BC105038, BC110380, DA528798

Consensus CDS

CCDS808.1

UniProtKB/Swiss-Prot

B4DRY4, E9PEM9, P28161, Q2M318, Q5TZY5, Q8WWE1

UniProtKB/TrEMBL

A0A384P5E9, Q0D2I8

Related

ENSP00000241337.4, ENST00000241337.9

Conserved Domains (2) summary

cd03209
Location:92 → 212

GST_C_Mu; C-terminal, alpha helical domain of Class Mu Glutathione S-transferases

cd03075
Location:3 → 84

GST_N_Mu; GST_N family, Class Mu subfamily; GSTs are cytosolic dimeric proteins involved in cellular detoxification by catalyzing the conjugation of glutathione (GSH) with a wide range of endogenous and xenobiotic alkylating agents, including carcinogens, ...
NM_001142368.2 → NP_001135840.1 glutathione S-transferase Mu 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC000031, AK299482, BC110380, DA528798

Consensus CDS

CCDS44192.1

UniProtKB/TrEMBL

A8HT81

Related

ENSP00000416883.1, ENST00000442650.5

Conserved Domains (3) summary

COG0625
Location:3 → 189

GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]

cd03075
Location:3 → 84

GST_N_Mu; GST_N family, Class Mu subfamily; GSTs are cytosolic dimeric proteins involved in cellular detoxification by catalyzing the conjugation of glutathione (GSH) with a wide range of endogenous and xenobiotic alkylating agents, including carcinogens, ...

cl02776
Location:92 → 189

GST_C_family; C-terminal, alpha helical domain of the Glutathione S-transferase family