GSTM2 (glutathione S-transferase mu 2) - Rat Genome Database

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Gene: GSTM2 (glutathione S-transferase mu 2) Homo sapiens
Analyze
Symbol: GSTM2
Name: glutathione S-transferase mu 2
RGD ID: 735264
HGNC Page HGNC:4634
Description: Enables several functions, including anion binding activity; glutathione peroxidase activity; and glutathione transferase activity. Involved in several processes, including cellular detoxification of nitrogen compound; cellular response to caffeine; and long-chain fatty acid metabolic process. Located in cytosol; intercellular bridge; and sarcoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 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); glutathione s-transferase, mu 2; GST class-mu 2; GST, muscle; GST4; GSTM; GSTM2-2; GTHMUS; MGC117303; S-(hydroxyalkyl)glutathione lyase M2
RGD Orthologs
Mouse
Rat
Bonobo
Alliance Genes
More Info more info ...
Related Pseudogenes: GSTM2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381109,668,057 - 109,683,997 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1109,668,022 - 109,709,551 (+)EnsemblGRCh38hg38GRCh38
GRCh371110,210,679 - 110,226,619 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361110,012,214 - 110,019,431 (+)NCBINCBI36Build 36hg18NCBI36
Build 341109,922,732 - 109,929,949NCBI
Celera1108,475,704 - 108,491,676 (+)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1108,098,937 - 108,114,955 (+)NCBIHuRef
CHM1_11110,325,465 - 110,359,901 (+)NCBICHM1_1
T2T-CHM13v2.01109,696,172 - 109,703,776 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-dioxane  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP,ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-allylphenol  (ISO)
2-methyl-2-[4-(1,2,3,4-tetrahydronaphthalen-1-yl)phenoxy]propanoic acid  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-Chloronitrobenzene  (ISO)
4-hydroxynon-2-enal  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
4-Propylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
8'-apo-beta,psi-caroten-8'-al  (EXP)
8-Br-cAMP  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
ampicillin  (ISO)
andrographolide  (ISO)
antimycin A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
astaxanthin  (EXP)
atrazine  (EXP,ISO)
bacitracin  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzothiazole  (ISO)
benzylideneacetone  (ISO)
beta-carotene  (EXP)
beta-naphthoflavone  (ISO)
bifenthrin  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bromobenzene  (ISO)
bromosulfophthalein  (ISO)
butanal  (EXP)
butylated hydroxyanisole  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
captan  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP,ISO)
chlordecone  (ISO)
chlorohydrocarbon  (ISO)
chlorpyrifos  (ISO)
cholic acid  (ISO)
ciglitazone  (ISO)
cis-caffeic acid  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clotrimazole  (ISO)
clozapine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
cyproconazole  (ISO)
deguelin  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
Diallyl sulfide  (ISO)
diazinon  (ISO)
dibenzofurans  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diclofenac  (EXP)
dimethyl sulfoxide  (ISO)
diquat  (ISO)
doramapimod  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ebselen  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethoxyquin  (ISO)
eugenol  (ISO)
felbamate  (ISO)
fenofibrate  (ISO)
Fenoprop  (ISO)
fenpyroximate  (EXP)
fipronil  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
Geniposide  (ISO)
gentamycin  (ISO)
gliotoxin  (ISO)
glutathione  (EXP,ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
griseofulvin  (ISO)
haloperidol  (ISO)
hexachlorobenzene  (ISO)
hydrazine  (ISO)
hydrogen peroxide  (ISO)
indole-3-methanol  (ISO)
indometacin  (ISO)
inulin  (ISO)
isomethyleugenol  (ISO)
ivermectin  (EXP)
kaempferol  (EXP)
ketoconazole  (ISO)
kojic acid  (ISO)
L-ascorbic acid  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
lithocholic acid  (ISO)
lithocholic acid sulfate  (ISO)
mercury dibromide  (EXP)
metformin  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP,ISO)
metronidazole  (ISO)
microcystin  (ISO)
microcystin-LR  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
nafenopin  (ISO)
naphthalene  (ISO)
nefazodone  (EXP,ISO)
neomycin  (ISO)
nickel atom  (EXP,ISO)
nickel dichloride  (ISO)
nicotine  (ISO)
nitric oxide  (ISO)
nitroglycerin  (ISO)
O-methyleugenol  (ISO)
ochratoxin A  (EXP,ISO)
okadaic acid  (ISO)
oltipraz  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraoxon  (EXP)
paraquat  (ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
PhIP  (ISO)
phlorizin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
prostaglandin E2  (EXP)
prostaglandin H2  (EXP)
prostaglandins E  (EXP)
pyrazinecarboxamide  (ISO)
pyrimidifen  (EXP)
quercetin  (EXP)
Reactive blue 2  (ISO)
Rebamipide  (ISO)
riddelliine  (ISO)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-adenosyl-L-methioninate  (ISO)
S-adenosyl-L-methionine  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
S-hexylglutathione  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
spironolactone  (ISO)
streptozocin  (ISO)
styrene oxide  (ISO)
sulfadimethoxine  (ISO)
sulfasalazine  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
tacrine  (ISO)
tebuconazole  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
theophylline  (EXP)
thiazoles  (ISO)
thifluzamide  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP)
toluene  (ISO)
topotecan  (ISO)
trans-caffeic acid  (ISO)
trichostatin A  (EXP)
valproic acid  (ISO)
vanadyl sulfate  (ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
zearalenone  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Diet-relevant phytochemical intake affects the cardiac AhR and nrf2 transcriptome and reduces heart failure in hypertensive rats. Seymour EM, etal., J Nutr Biochem. 2013 Sep;24(9):1580-6. doi: 10.1016/j.jnutbio.2013.01.008. Epub 2013 Mar 22.
6. Glutathione S-transferase: genetics and role in toxicology. Strange RC, etal., Toxicol Lett 2000 Mar 15;112-113:357-63.
7. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
8. Reduced expression of GSTM2 and increased oxidative stress in spontaneously hypertensive rat. Zhou SG, etal., Mol Cell Biochem. 2008 Feb;309(1-2):99-107. Epub 2007 Nov 16.
Additional References at PubMed
PMID:1530570   PMID:1602151   PMID:2006920   PMID:2034681   PMID:2345169   PMID:6500576   PMID:8182750   PMID:8242618   PMID:8317488   PMID:8373352   PMID:9164836   PMID:9452477  
PMID:9761928   PMID:10676639   PMID:12192076   PMID:12477932   PMID:12486119   PMID:12871945   PMID:14634838   PMID:15489334   PMID:15725629   PMID:16002077   PMID:16344560   PMID:16549767  
PMID:16624487   PMID:17023043   PMID:17197702   PMID:18007994   PMID:18065725   PMID:18308613   PMID:18510611   PMID:18551009   PMID:19056867   PMID:19151192   PMID:19168034   PMID:19343046  
PMID:19696791   PMID:19856098   PMID:19859803   PMID:19913121   PMID:20200426   PMID:20417188   PMID:20485444   PMID:20628086   PMID:21046276   PMID:21246532   PMID:21268265   PMID:21323602  
PMID:21454564   PMID:21455499   PMID:21873635   PMID:22406107   PMID:23376485   PMID:23533145   PMID:23675469   PMID:24048194   PMID:24399650   PMID:24852519   PMID:24965446   PMID:26186194  
PMID:26561776   PMID:27566576   PMID:28514442   PMID:29229926   PMID:29665387   PMID:29845934   PMID:30274258   PMID:32296183   PMID:32513696   PMID:32574561   PMID:33555546   PMID:33838681  
PMID:33961781   PMID:34373451   PMID:35256949   PMID:35546148   PMID:36038661   PMID:36180891   PMID:36215168   PMID:36526897   PMID:36634849  


Genomics

Comparative Map Data
GSTM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381109,668,057 - 109,683,997 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1109,668,022 - 109,709,551 (+)EnsemblGRCh38hg38GRCh38
GRCh371110,210,679 - 110,226,619 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361110,012,214 - 110,019,431 (+)NCBINCBI36Build 36hg18NCBI36
Build 341109,922,732 - 109,929,949NCBI
Celera1108,475,704 - 108,491,676 (+)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1108,098,937 - 108,114,955 (+)NCBIHuRef
CHM1_11110,325,465 - 110,359,901 (+)NCBICHM1_1
T2T-CHM13v2.01109,696,172 - 109,703,776 (+)NCBIT2T-CHM13v2.0
Gstm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393107,889,018 - 107,893,736 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3107,889,018 - 107,893,769 (-)EnsemblGRCm39 Ensembl
GRCm383107,981,702 - 107,986,420 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3107,981,702 - 107,986,453 (-)EnsemblGRCm38mm10GRCm38
MGSCv373107,784,620 - 107,789,354 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363108,109,758 - 108,114,495 (-)NCBIMGSCv36mm8
Celera3110,314,778 - 110,319,512 (-)NCBICelera
Cytogenetic Map3F2.3NCBI
cM Map346.83NCBI
Gstm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82198,312,179 - 198,316,962 (-)NCBIGRCr8
mRatBN7.22195,624,015 - 195,628,774 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2195,544,426 - 195,628,961 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2203,266,686 - 203,271,044 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02201,148,808 - 201,153,166 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02195,965,761 - 195,970,119 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02210,778,041 - 210,782,807 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2210,720,704 - 210,782,856 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02230,247,260 - 230,251,618 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42203,549,022 - 203,553,380NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2188,270,799 - 188,275,157 (-)NCBICelera
Cytogenetic Map2q34NCBI
GSTM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v01112,043,201 - 112,050,810 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11111,272,713 - 111,278,829 (+)NCBIpanpan1.1PanPan1.1panPan2

Variants

.
Variants in GSTM2
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 copy number loss See cases [RCV000053879] Chr1:101618097..111703028 [GRCh38]
Chr1:102083653..112245650 [GRCh37]
Chr1:101856241..112047173 [NCBI36]
Chr1:1p21.2-13.2
pathogenic
GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1 copy number loss See cases [RCV000053881] Chr1:106074587..110144290 [GRCh38]
Chr1:106617209..110686912 [GRCh37]
Chr1:106418732..110488435 [NCBI36]
Chr1:1p21.1-13.3
pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3
pathogenic
NM_000848.3(GSTM2):c.393C>T (p.Leu131=) single nucleotide variant Malignant melanoma [RCV000064002] Chr1:109671319 [GRCh38]
Chr1:110213941 [GRCh37]
Chr1:110015464 [NCBI36]
Chr1:1p13.3
not provided
NM_000848.3(GSTM2):c.394C>T (p.Pro132Ser) single nucleotide variant Malignant melanoma [RCV000064003] Chr1:109671320 [GRCh38]
Chr1:110213942 [GRCh37]
Chr1:110015465 [NCBI36]
Chr1:1p13.3
not provided
NM_000848.3(GSTM2):c.489C>T (p.Val163=) single nucleotide variant Malignant melanoma [RCV000064004] Chr1:109671505 [GRCh38]
Chr1:110214127 [GRCh37]
Chr1:110015650 [NCBI36]
Chr1:1p13.3
not provided
GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3 copy number gain See cases [RCV000138606] Chr1:108970247..109794222 [GRCh38]
Chr1:109512869..110336844 [GRCh37]
Chr1:109314392..110138367 [NCBI36]
Chr1:1p13.3
uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000848.4(GSTM2):c.124G>A (p.Asp42Asn) single nucleotide variant Inborn genetic diseases [RCV003270991] Chr1:109668936 [GRCh38]
Chr1:110211558 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.11:g.(?_103175204)_(111410059_?)del deletion Autism [RCV000754122] Chr1:103175204..111410059 [GRCh38]
Chr1:1p21.1-13.2
likely pathogenic
GRCh37/hg19 1p13.3(chr1:110216972-110266754)x3 copy number gain not provided [RCV000736648] Chr1:110216972..110266754 [GRCh37]
Chr1:1p13.3
benign
GRCh37/hg19 1p13.3(chr1:110218277-110254641)x3 copy number gain not provided [RCV000736649] Chr1:110218277..110254641 [GRCh37]
Chr1:1p13.3
benign
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3
pathogenic
Single allele deletion 1p13.3 deletion syndrome [RCV000786772] Chr1:107779092..111199205 [GRCh37]
Chr1:1p13.3
likely pathogenic
Single allele deletion not provided [RCV000844956] Chr1:108926313..111266497 [GRCh37]
Chr1:1p13.3
not provided
NC_000001.10:g.(?_108679275)_(111674176_?)del deletion Hereditary spastic paraplegia 63 [RCV003105726] Chr1:108679275..111674176 [GRCh37]
Chr1:1p13.3
pathogenic
NM_000848.4(GSTM2):c.234G>C (p.Arg78=) single nucleotide variant not provided [RCV000908937] Chr1:109669346 [GRCh38]
Chr1:110211968 [GRCh37]
Chr1:1p13.3
benign
NM_000848.4(GSTM2):c.259+3G>A single nucleotide variant not provided [RCV000955742] Chr1:109669374 [GRCh38]
Chr1:110211996 [GRCh37]
Chr1:1p13.3
benign
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12
pathogenic
GRCh37/hg19 1p13.3(chr1:110178180-110278171)x1 copy number loss not provided [RCV001827965] Chr1:110178180..110278171 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2
pathogenic
NM_000848.4(GSTM2):c.587C>A (p.Ala196Asp) single nucleotide variant Inborn genetic diseases [RCV002882984] Chr1:109674766 [GRCh38]
Chr1:110217388 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_000848.4(GSTM2):c.413A>G (p.Tyr138Cys) single nucleotide variant Inborn genetic diseases [RCV002870145] Chr1:109671339 [GRCh38]
Chr1:110213961 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_000848.4(GSTM2):c.28A>T (p.Ile10Phe) single nucleotide variant Inborn genetic diseases [RCV002924304] Chr1:109668143 [GRCh38]
Chr1:110210765 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_000848.4(GSTM2):c.151T>C (p.Phe51Leu) single nucleotide variant Inborn genetic diseases [RCV003190094] Chr1:109668963 [GRCh38]
Chr1:110211585 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_000848.4(GSTM2):c.484G>T (p.Asp162Tyr) single nucleotide variant Inborn genetic diseases [RCV003309407] Chr1:109671500 [GRCh38]
Chr1:110214122 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1 copy number loss not provided [RCV003483272] Chr1:109483388..112293512 [GRCh37]
Chr1:1p13.3-13.2
pathogenic
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1
pathogenic
NM_000848.4(GSTM2):c.654G>A (p.Lys218=) single nucleotide variant not provided [RCV003406660] Chr1:109674833 [GRCh38]
Chr1:110217455 [GRCh37]
Chr1:1p13.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4670
Count of miRNA genes:1123
Interacting mature miRNAs:1383
Transcripts:ENST00000241337, ENST00000369827, ENST00000369829, ENST00000369831, ENST00000414179, ENST00000442650, ENST00000460717, ENST00000464206, ENST00000467579, ENST00000472225, ENST00000476040, ENST00000481656, ENST00000496578, ENST00000568786
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
G62022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,236,049 - 110,236,197UniSTSGRCh37
GRCh371110,217,590 - 110,217,738UniSTSGRCh37
Build 361110,019,113 - 110,019,261RGDNCBI36
Celera1108,482,649 - 108,482,797RGD
Cytogenetic Map1p13.3UniSTS
HuRef1108,105,927 - 108,106,075UniSTS
G67221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,211,823 - 110,212,094UniSTSGRCh37
Build 361110,013,346 - 110,013,617RGDNCBI36
Celera1108,476,883 - 108,477,154RGD
Cytogenetic Map1p13.3UniSTS
HuRef1108,100,116 - 108,100,387UniSTS
G67222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,235,703 - 110,236,449UniSTSGRCh37
GRCh371110,217,244 - 110,217,990UniSTSGRCh37
Build 361110,018,767 - 110,019,513RGDNCBI36
Celera1108,482,303 - 108,483,049RGD
Cytogenetic Map1p13.3UniSTS
HuRef1108,105,581 - 108,106,327UniSTS
UniSTS:33073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,236,011 - 110,236,297UniSTSGRCh37
GRCh371110,217,552 - 110,217,838UniSTSGRCh37
Build 361110,019,075 - 110,019,361RGDNCBI36
Celera1108,482,611 - 108,482,897RGD
HuRef1108,105,889 - 108,106,175UniSTS
SHGC-12332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,236,011 - 110,236,359UniSTSGRCh37
GRCh371110,217,552 - 110,217,900UniSTSGRCh37
Build 361110,019,075 - 110,019,423RGDNCBI36
Celera1108,482,611 - 108,482,959RGD
Cytogenetic Map1p13.3UniSTS
HuRef1108,105,889 - 108,106,237UniSTS
TNG Radiation Hybrid Map159814.0UniSTS
Stanford-G3 RH Map15141.0UniSTS
NCBI RH Map1830.6UniSTS
GeneMap99-G3 RH Map15097.0UniSTS
RH65389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,213,981 - 110,214,191UniSTSGRCh37
Build 361110,015,504 - 110,015,714RGDNCBI36
Celera1108,479,041 - 108,479,251RGD
Cytogenetic Map1p13.3UniSTS
HuRef1108,102,319 - 108,102,529UniSTS
GeneMap99-GB4 RH Map1338.96UniSTS
D6S1881  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p13.3UniSTS
Whitehead-YAC Contig Map6 UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1584 1040 1019 101 309 36 2707 916 1100 159 1053 943 68 1 683 1742 1 2
Low 818 1847 685 503 1510 409 1645 1277 2631 247 379 623 102 521 1046 5
Below cutoff 36 104 22 20 129 20 5 4 3 13 28 46 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007070521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007070522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC000031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM924181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA528798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU143668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X56838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000241337   ⟹   ENSP00000241337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,057 - 109,675,286 (+)Ensembl
RefSeq Acc Id: ENST00000369827   ⟹   ENSP00000358842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,036 - 109,675,283 (+)Ensembl
RefSeq Acc Id: ENST00000369829   ⟹   ENSP00000358844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,092 - 109,673,525 (+)Ensembl
RefSeq Acc Id: ENST00000369831   ⟹   ENSP00000358846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,022 - 109,709,549 (+)Ensembl
RefSeq Acc Id: ENST00000414179   ⟹   ENSP00000404662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,088 - 109,683,584 (+)Ensembl
RefSeq Acc Id: ENST00000442650   ⟹   ENSP00000416883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,022 - 109,683,997 (+)Ensembl
RefSeq Acc Id: ENST00000460717   ⟹   ENSP00000435910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,051 - 109,702,442 (+)Ensembl
RefSeq Acc Id: ENST00000464206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,054 - 109,670,023 (+)Ensembl
RefSeq Acc Id: ENST00000467579   ⟹   ENSP00000435157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,083 - 109,671,486 (+)Ensembl
RefSeq Acc Id: ENST00000472225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,669,547 - 109,674,864 (+)Ensembl
RefSeq Acc Id: ENST00000476040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,061 - 109,670,099 (+)Ensembl
RefSeq Acc Id: ENST00000481656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,057 - 109,668,848 (+)Ensembl
RefSeq Acc Id: ENST00000496578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,670,659 - 109,675,079 (+)Ensembl
RefSeq Acc Id: ENST00000568786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,668,113 - 109,669,476 (+)Ensembl
RefSeq Acc Id: ENST00000624726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,705,231 - 109,709,551 (+)Ensembl
RefSeq Acc Id: NM_000848   ⟹   NP_000839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,668,057 - 109,675,286 (+)NCBI
GRCh371110,210,644 - 110,226,619 (+)ENTREZGENE
Build 361110,012,214 - 110,019,431 (+)NCBI Archive
HuRef1108,098,937 - 108,114,955 (+)ENTREZGENE
CHM1_11110,325,465 - 110,332,734 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001142368   ⟹   NP_001135840
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,668,057 - 109,683,997 (+)NCBI
GRCh371110,210,644 - 110,226,619 (+)ENTREZGENE
HuRef1108,098,937 - 108,114,955 (+)ENTREZGENE
CHM1_11110,325,465 - 110,359,901 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443675   ⟹   XP_047299631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01109,696,172 - 109,703,776 (+)NCBI
RefSeq Acc Id: XR_007059236
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,668,057 - 109,671,375 (+)NCBI
RefSeq Acc Id: XR_007059237
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,668,057 - 109,671,375 (+)NCBI
RefSeq Acc Id: XR_007070521
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01109,696,172 - 109,699,867 (+)NCBI
RefSeq Acc Id: XR_007070522
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01109,696,172 - 109,699,867 (+)NCBI
RefSeq Acc Id: NP_001135840   ⟸   NM_001142368
- Peptide Label: isoform 2
- UniProtKB: A8HT81 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000839   ⟸   NM_000848
- Peptide Label: isoform 1
- UniProtKB: Q5TZY5 (UniProtKB/Swiss-Prot),   Q2M318 (UniProtKB/Swiss-Prot),   E9PEM9 (UniProtKB/Swiss-Prot),   B4DRY4 (UniProtKB/Swiss-Prot),   Q8WWE1 (UniProtKB/Swiss-Prot),   P28161 (UniProtKB/Swiss-Prot),   Q0D2I8 (UniProtKB/TrEMBL),   A0A384P5E9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000241337   ⟸   ENST00000241337
RefSeq Acc Id: ENSP00000404662   ⟸   ENST00000414179
RefSeq Acc Id: ENSP00000435157   ⟸   ENST00000467579
RefSeq Acc Id: ENSP00000416883   ⟸   ENST00000442650
RefSeq Acc Id: ENSP00000358846   ⟸   ENST00000369831
RefSeq Acc Id: ENSP00000358844   ⟸   ENST00000369829
RefSeq Acc Id: ENSP00000358842   ⟸   ENST00000369827
RefSeq Acc Id: ENSP00000435910   ⟸   ENST00000460717
RefSeq Acc Id: XP_047299631   ⟸   XM_047443675
- Peptide Label: isoform X1
- UniProtKB: Q2M318 (UniProtKB/Swiss-Prot),   P28161 (UniProtKB/Swiss-Prot),   E9PEM9 (UniProtKB/Swiss-Prot),   B4DRY4 (UniProtKB/Swiss-Prot),   Q5TZY5 (UniProtKB/Swiss-Prot),   Q8WWE1 (UniProtKB/Swiss-Prot),   A0A384P5E9 (UniProtKB/TrEMBL),   Q0D2I8 (UniProtKB/TrEMBL)
Protein Domains
GST C-terminal   GST N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28161-F1-model_v2 AlphaFold P28161 1-218 view protein structure

Promoters
RGD ID:6856512
Promoter ID:EPDNEW_H1421
Type:initiation region
Name:GSTM2_1
Description:glutathione S-transferase mu 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,668,057 - 109,668,117EPDNEW
RGD ID:6785476
Promoter ID:HG_KWN:4012
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000369827,   ENST00000369829,   ENST00000369830,   ENST00000369831,   NM_001142368,   OTTHUMT00000032167,   OTTHUMT00000032170,   OTTHUMT00000032171,   OTTHUMT00000032172,   OTTHUMT00000032173,   OTTHUMT00000032174,   OTTHUMT00000032176,   OTTHUMT00000032177,   OTTHUMT00000032179,   UC009WFK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361110,011,871 - 110,012,371 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4634 AgrOrtholog
COSMIC GSTM2 COSMIC
Ensembl Genes ENSG00000213366 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000241337 ENTREZGENE
  ENST00000241337.9 UniProtKB/Swiss-Prot
  ENST00000369827.7 UniProtKB/TrEMBL
  ENST00000369829.2 UniProtKB/TrEMBL
  ENST00000369831.6 UniProtKB/TrEMBL
  ENST00000414179.6 UniProtKB/TrEMBL
  ENST00000442650 ENTREZGENE
  ENST00000442650.5 UniProtKB/Swiss-Prot
  ENST00000460717.7 UniProtKB/Swiss-Prot
  ENST00000467579.7 UniProtKB/TrEMBL
  ENST00000476040 ENTREZGENE
Gene3D-CATH 1.20.1050.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.1050.130 UniProtKB/TrEMBL
  Glutaredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000213366 GTEx
HGNC ID HGNC:4634 ENTREZGENE
Human Proteome Map GSTM2 Human Proteome Map
InterPro Glutathione-S-Trfase_C-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione-S-Trfase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione_S-Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione_S-Trfase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GST_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GST_mu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2946 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2946 ENTREZGENE
OMIM 138380 OMIM
PANTHER GLUTATHIONE S-TRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLUTATHIONE S-TRANSFERASE MU 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GST_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GST_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29023 PharmGKB
PRINTS GSTRNSFRASEM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GST_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GST_NTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47616 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384P5E9 ENTREZGENE, UniProtKB/TrEMBL
  A8HT81 ENTREZGENE, UniProtKB/TrEMBL
  B4DRY4 ENTREZGENE
  E9PEM9 ENTREZGENE
  E9PGV1_HUMAN UniProtKB/TrEMBL
  E9PHN6_HUMAN UniProtKB/TrEMBL
  E9PHN7_HUMAN UniProtKB/TrEMBL
  E9PLF1_HUMAN UniProtKB/TrEMBL
  F6XZQ7_HUMAN UniProtKB/TrEMBL
  GSTM2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q0D2I8 ENTREZGENE, UniProtKB/TrEMBL
  Q2M318 ENTREZGENE
  Q5TZY5 ENTREZGENE
  Q8WWE1 ENTREZGENE
UniProt Secondary B4DRY4 UniProtKB/Swiss-Prot
  E9PEM9 UniProtKB/Swiss-Prot
  Q2M318 UniProtKB/Swiss-Prot
  Q5TZY5 UniProtKB/Swiss-Prot
  Q8WWE1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-09 GSTM2  glutathione S-transferase mu 2  GSTM2  glutathione S-transferase mu 2 (muscle)  Symbol and/or name change 5135510 APPROVED