GeneBe

GSTO2

glutathione S-transferase omega 2, the group of Soluble glutathione S-transferases

Basic information

Region (hg38): 10:104268873-104304950

Links

ENSG00000065621 ∙ NCBI:119391 ∙ OMIM:612314 ∙ HGNC:23064 ∙ Uniprot:Q9H4Y5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GSTO2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSTO2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
5
clinvar
1
clinvar
 6
nonsense
0
start loss
1
clinvar
 1
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 6 1 0

Variants in GSTO2

This is a list of pathogenic ClinVar variants found in the GSTO2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
10-104275256-G-A not specified Uncertain significance (Apr 24, 2024)3283030
10-104275276-A-G not specified Uncertain significance (Apr 13, 2023)2536691
10-104275312-G-A Likely benign (Jul 06, 2018)780890
10-104277896-A-T not specified Uncertain significance (Feb 07, 2023)2465826
10-104277956-T-C not specified Uncertain significance (Apr 09, 2024)3283029
10-104278085-G-A not specified Uncertain significance (Oct 06, 2021)2402522
10-104279397-G-T not specified Uncertain significance (Jun 30, 2022)2299331
10-104299210-A-G not specified Uncertain significance (Sep 29, 2022)2314725
10-104299241-A-G not specified Uncertain significance (Jun 09, 2022)2294410

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GSTO2protein_codingprotein_codingENST00000338595 636073
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.61e-90.083912557501731257480.000688
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3091261360.9250.000006911594
Missense in Polyphen3942.460.91852534
Synonymous1.044150.40.8140.00000237454
Loss of Function-0.08961312.71.036.32e-7154

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001150.00115
Ashkenazi Jewish0.0003980.000397
East Asian0.0002180.000217
Finnish0.00009240.0000924
European (Non-Finnish)0.0009020.000897
Middle Eastern0.0002180.000217
South Asian0.0007530.000752
Other0.0008180.000815

dbNSFP

Source: dbNSFP

Function
FUNCTION: Exhibits glutathione-dependent thiol transferase activity. Has high dehydroascorbate reductase activity and may contribute to the recycling of ascorbic acid. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA). {ECO:0000269|PubMed:15970797}.;
Pathway
Glutathione metabolism - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - other enzymes - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Gamma-glutamyl-transpeptidase deficiency;5-oxoprolinase deficiency;Gamma-Glutamyltransferase Deficiency;Glutathione Metabolism;Glutathione Synthetase Deficiency;5-Oxoprolinuria;Metapathway biotransformation Phase I and II;Glutathione conjugation;Phase II - Conjugation of compounds;Vitamin C (ascorbate) metabolism;glutathione-mediated detoxification;Biological oxidations;Metabolism;Metabolism of water-soluble vitamins and cofactors;Metabolism of vitamins and cofactors (Consensus)

Recessive Scores

pRec
0.259

Intolerance Scores

loftool
0.641
rvis_EVS
-0.01
rvis_percentile_EVS
53.51

Haploinsufficiency Scores

pHI
0.0802
hipred
N
hipred_score
0.131
ghis
0.531

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0434

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Gsto2
Phenotype
cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);

Gene ontology

Biological process
xenobiotic metabolic process;L-ascorbic acid metabolic process;oxidation-reduction process;cellular response to arsenic-containing substance;cellular oxidant detoxification;glutathione derivative biosynthetic process
Cellular component
cytosol;extracellular exosome
Molecular function
glutathione transferase activity;protein binding;oxidoreductase activity;identical protein binding;glutathione dehydrogenase (ascorbate) activity;methylarsonate reductase activity