TXNRD2 Chromosome 22
Thioredoxin reductase 2
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What This Gene Does
The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes a mitochondrial form important for scavenging reactive oxygen species in mitochondria. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms, including a few localized in the cytosol and some lacking the C-terminal Sec residue, have been found for this gene. [provided by RefSeq, Jun 2017]
Gene Info
Gene Group
"Selenoproteins|Flavoproteins"
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000184470
Associated Conditions (6)
Primary dilated cardiomyopathy
Cardiovascular phenotype
TXNRD2-related disorder
Glucocorticoid deficiency 5
Primary familial hypertrophic cardiomyopathy
Cardiomyopathy
Key Variants
RS138462062
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Cardiovascular phenotype, TXNRD2-related disorder
Health Risk
RS146133764
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy
Health Risk
RS183950022
Conflicting classifications of pathogenicity
Glucocorticoid deficiency 5, Primary dilated cardiomyopathy, Cardiovascular phenotype
Health Risk
RS199510610
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Cardiovascular phenotype, Glucocorticoid deficiency 5
Health Risk
RS200063300
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy
Health Risk
RS200162480
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Glucocorticoid deficiency 5
Health Risk
RS201349663
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Glucocorticoid deficiency 5, Cardiovascular phenotype
Health Risk
RS201503021
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Cardiovascular phenotype, TXNRD2-related disorder
Health Risk
RS201913959
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Cardiovascular phenotype, Glucocorticoid deficiency 5
Health Risk
RS201971987
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype
Health Risk
RS202059967
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Glucocorticoid deficiency 5, Primary dilated cardiomyopathy
Health Risk
RS2146120283
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Cardiovascular phenotype, Glucocorticoid deficiency 5
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138462062 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, TXNRD2-related disorder |
| RS146133764 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS183950022 | Health Risk | Conflicting classifications of pathogenicity | Glucocorticoid deficiency 5, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS199510610 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Glucocorticoid deficiency 5 |
| RS200063300 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS200162480 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Glucocorticoid deficiency 5 |
| RS201349663 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Glucocorticoid deficiency 5, Cardiovascular phenotype |
| RS201503021 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, TXNRD2-related disorder |
| RS201913959 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Glucocorticoid deficiency 5 |
| RS201971987 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS202059967 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Glucocorticoid deficiency 5, Primary dilated cardiomyopathy |
| RS2146120283 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Glucocorticoid deficiency 5 |
| RS368200536 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS368561764 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS369142382 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS370819229 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, TXNRD2-related disorder |
| RS371153395 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS373970291 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Glucocorticoid deficiency 5 |
| RS373979810 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS374364917 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS543290126 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS543644944 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS61736941 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Glucocorticoid deficiency 5, Cardiovascular phenotype |
| RS752213778 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS752947034 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS755751835 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS759613137 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS763888077 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS766288973 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS766934707 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS767236339 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS777384922 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS778309862 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS886038873 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS925920723 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Glucocorticoid deficiency 5 |
| RS939642675 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiovascular phenotype, Primary dilated cardiomyopathy |