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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TXNRD2
thioredoxin reductase 2
Chromosome 22 · 22q11.21
NCBI Gene: 10587Ensembl: ENSG00000184470.21HGNC: HGNC:18155UniProt: A0A096LPD9
90PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell redox homeostasisprotein bindingmitochondrionthioredoxin-disulfide reductase (NADPH) activityresponse to tramadolfamilial glucocorticoid deficiencyfamilial isolated dilated cardiomyopathyopen-angle glaucoma
✦AI Summary

TXNRD2 encodes thioredoxin reductase 2, a mitochondrial selenoprotein essential for redox homeostasis and cellular protection against oxidative stress 1. The enzyme maintains thioredoxin in a reduced state and controls reactive oxygen species levels within mitochondria 2. TXNRD2 functions through post-translational modifications, including CoAlation at Cys-483, which regulates its enzymatic activity and protects against ferroptosis by preventing mitochondrial lipid peroxidation 3. The protein is expressed in retinal ganglion cells and the optic nerve head 4. Genetic variants in TXNRD2 are significantly associated with primary open-angle glaucoma susceptibility, with risk alleles correlating with higher gene expression levels and more severe disease phenotypes including elevated intraocular pressure and paracentral visual field loss 45. Additionally, elevated TXNRD2 serum levels serve as predictive biomarkers for castration-resistant prostate cancer development 6. The gene has also been implicated in glucocorticoid deficiency disorders, with likely deleterious homozygous variants identified in patients with compatible phenotypes 7. These findings establish TXNRD2 as a critical regulator of mitochondrial redox balance with significant clinical implications across multiple diseases.

Sources cited
1
TXNRD2 encodes a mitochondrial selenoprotein involved in redox homeostasis
PMID: 27645994
2
TXNRD2 maintains thioredoxin in reduced state and controls reactive oxygen species levels
PMID: 34449246
3
TXNRD2 undergoes CoAlation at Cys-483 and protects against ferroptosis through mitochondrial lipid peroxidation prevention
PMID: 40694424
4
TXNRD2 is expressed in retinal ganglion cells and associated with primary open-angle glaucoma
PMID: 26752265
5
TXNRD2 genetic variants correlate with higher gene expression and severe glaucoma phenotypes
PMID: 36813040
6
Elevated TXNRD2 serum levels predict castration-resistant prostate cancer development
PMID: 39900986
7
Homozygous deleterious TXNRD2 variants identified in glucocorticoid deficiency patients
PMID: 30237576
Disease Associationsⓘ21
response to tramadolOpen Targets
0.50Moderate
familial glucocorticoid deficiencyOpen Targets
0.49Moderate
familial isolated dilated cardiomyopathyOpen Targets
0.37Weak
open-angle glaucomaOpen Targets
0.29Weak
glaucomaOpen Targets
0.25Weak
dilated cardiomyopathyOpen Targets
0.22Weak
Abnormality of the cardiovascular systemOpen Targets
0.19Weak
heart diseaseOpen Targets
0.18Weak
familial hypertrophic cardiomyopathyOpen Targets
0.18Weak
cardiomyopathyOpen Targets
0.12Weak
ependymomaOpen Targets
0.11Weak
cancerOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
preeclampsiaOpen Targets
0.08Suggestive
cardiac hypertrophyOpen Targets
0.08Suggestive
chondrocalcinosisOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
cervical cancerOpen Targets
0.05Suggestive
left ventricular noncompactionOpen Targets
0.05Suggestive
Glucocorticoid deficiency 5UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DBTProtein interaction100%DLATProtein interaction100%SCLYProtein interaction98%GLRXProtein interaction97%TXNProtein interaction97%TXN2Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Ovary
44%
Heart
36%
Lung
35%
Bone Marrow
28%
Brain
14%
Gene Interaction Network
Click a node to explore
TXNRD2DBTDLATSCLYGLRXTXNTXN2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NNW7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.79–1.18]
RankingsWhere TXNRD2 stands among ~20K protein-coding genes
  • #5,345of 20,598
    Most Researched90
  • #12,370of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedTXNRD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med · 2019
1.00
2
Thioredoxin Reductase Inhibition for Cancer Therapy.
PMID: 34449246
Annu Rev Pharmacol Toxicol · 2022
0.90
3
Genetics of glaucoma.
PMID: 28505344
Hum Mol Genet · 2017
0.80
4
Selenoprotein Gene Nomenclature.
PMID: 27645994
J Biol Chem · 2016
0.70
5
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.
PMID: 26752265
Nat Genet · 2016
0.60