GSTT2B

Chr 22

glutathione S-transferase theta 2B

Also known as: GSTT2P

Glutathione S-transferase theta 2B catalyzes the conjugation of reduced glutathione to electrophilic and hydrophobic compounds and has sulfatase activity as part of cellular detoxification pathways. This gene is a pseudogene in some populations and no definitive disease associations have been established from the provided data. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.708).

ResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 0.71
Clinical SummaryGSTT2B
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.72) — some intolerance to loss-of-function variants.
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ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 14 VUS of 27 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.71LOEUF
pLI 0.722
Z-score 1.90
OE 0.00 (0.000.71)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
0.72Z-score
OE missense 0.70 (0.530.94)
33 obs / 46.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.000.71)
00.351.4
Missense OE0.70 (0.530.94)
00.61.4
Synonymous OE0.85
01.21.6
LoF obs/exp: 0 / 4.2Missense obs/exp: 33 / 46.9Syn Z: 0.51
DN
0.6937th %ile
GOF
0.79top 10%
LOF
0.2385th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

27 submitted variants in ClinVar

Classification Summary

Pathogenic11
VUS14
Conflicting2
11
Pathogenic
14
VUS
2
Conflicting

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
11
Likely Pathogenic
0
VUS
14
Likely Benign
0
Benign
0
Conflicting
2
Total27

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GSTT2B · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
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