GSTT2

Chr 22

glutathione S-transferase theta 2 (gene/pseudogene)

NCBI Gene: 2953ENSG00000099984UniProt: P0CG30

The protein encoded by this gene, glutathione S-transferase (GST) theta 2 (GSTT2), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2 gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015]

127
ClinVar variants
59
Pathogenic / LP
0.01
pLI score
0
Active trials
Clinical Summary— GSTT2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
59 Pathogenic / Likely Pathogenic· 58 VUS of 127 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.61LOEUF
pLI 0.015
Z-score 0.65
OE 0.67 (0.30–1.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.89Z-score
OE missense 0.63 (0.47–0.86)
30 obs / 47.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.67 (0.30–1.61)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.63 (0.47–0.86)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.92
0≤1.21.6
LoF obs/exp: 3 / 4.5Missense obs/exp: 30 / 47.3Syn Z: 0.27

ClinVar Variant Classifications

127 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic47
Likely Pathogenic12
VUS58
Likely Benign1
Benign1
Conflicting2
47
Pathogenic
12
Likely Pathogenic
58
VUS
1
Likely Benign
1
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————47
Likely Pathogenic
————12
VUS
————58
Likely Benign
————1
Benign
————1
Conflicting
—2
Total—121

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GSTT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Mammalian class theta GST and differential susceptibility to carcinogens: a review.
Landi S·Mutat Res
2000Review
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.
Fledrich R et al.·J Neurol Neurosurg Psychiatry
2017
Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.
Shi H et al.·Medicine (Baltimore)
2018Review
Copy number variations in Saudi family with intellectual disability and epilepsy.
Naseer MI et al.·BMC Genomics
2016
Inter-individual Variability in Activity of the Major Drug Metabolizing Enzymes in Liver Homogenates of 20 Individuals.
den Braver-Sewradj SP et al.·Curr Drug Metab
2018
A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of non-small cell lung cancer in smokers.
Zienolddiny S et al.·Carcinogenesis
2008
Functional analysis of polymorphisms in the promoter regions of genes on 22q11.
Hoogendoorn B et al.·Hum Mutat
2004Functional
A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.
Landi S et al.·Pharmacogenet Genomics
2005
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia.
Rodríguez-Santiago B et al.·Mol Psychiatry
2010
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Loss of Glutathione-S-Transferase Theta 2 (GSTT2) Modulates the Tumor Microenvironment and Response to BCG Immunotherapy in a Murine Orthotopic Model of Bladder Cancer.
Patwardhan MV et al.·Int J Mol Sci
2024🔓 Open AccessFunctional
Glutathione-S-Transferase Theta 2 (GSTT2) Modulates the Response to Bacillus Calmette-Guérin Immunotherapy in Bladder Cancer Patients.
Rahmat JN et al.·Int J Mol Sci
2024🔓 Open AccessCohort
Proanthocyanidins mitigate bile acid-induced changes in GSTT2 levels in a panel of racially diverse patient-derived primary esophageal cell cultures.
Weh KM et al.·Mol Carcinog
2022
Constitutively Higher Level of GSTT2 in Esophageal Tissues From African Americans Protects Cells Against DNA Damage.
Ferrer-Torres D et al.·Gastroenterology
2019
Genetic Variants of Glutathione S-Transferase GSTT1 and GSTT2 in Cynomolgus Macaques: Identification of GSTT Substrates and Functionally Relevant Alleles.
Uno Y et al.·Chem Res Toxicol
2018Functional
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools