TXNRD2
Thioredoxin Reductase 2 Gene
Gene Information Card
| Symbol | TXNRD2 |
|---|---|
| Full Name | Thioredoxin Reductase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 10587 ncbi.nlm.nih.gov/gene/10587 |
| Ensembl ID | ENSG00000184470 |
| UniProt ID | Q9NNW7 |
| OMIM ID | 606448 |
| HGNC ID | 18155 |
| Aliases | TR3, TRXR2, SELZ, TR-BETA |
Description
TXNRD2 encodes thioredoxin reductase 2, a mitochondrial selenoprotein that reduces thioredoxin and other substrates, playing a key role in cellular redox homeostasis and protection against oxidative stress. The enzyme contains a selenocysteine (Sec) residue at its active site, essential for catalytic activity. Mutations in TXNRD2 are associated with familial glucocorticoid deficiency and dilated cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial glucocorticoid deficiency | Loss-of-function mutations impair mitochondrial redox balance, leading to adrenal cell apoptosis and cortisol deficiency. | OMIM #609197; ClinVar pathogenic variants |
| Dilated cardiomyopathy | Defective mitochondrial thioredoxin system increases oxidative damage in cardiac myocytes, contributing to heart failure. | OMIM #615539; case reports in ClinVar |
| Primary adrenal insufficiency | Similar mechanism to glucocorticoid deficiency; biallelic TXNRD2 mutations disrupt adrenal steroidogenesis. | OMIM #609197; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 10.1 | Medium |
| Adrenal gland | 15.6 | High |
| Skeletal muscle | 6.4 | Low |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cells |
| HepG2 | 11.2 | Hepatocellular carcinoma |
| K562 | 7.5 | Leukemia cell line |
| SH-SY5Y | 6.1 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1339C>T (p.Arg447*) | Nonsense | Rare | Loss of function; truncation of selenocysteine domain |
| c.587G>A (p.Arg196Gln) | Missense | Rare | Reduced catalytic activity; associated with glucocorticoid deficiency |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; likely null allele |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that abolish enzyme activity or protein expression.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • thioredoxin-disulfide reductase activity | • selenium binding |
| • mitochondrion | • response to oxidative stress |
| • cell redox homeostasis | • electron transfer activity |
Pathways
• Thioredoxin pathway
• Selenocysteine synthesis
• Mitochondrial redox regulation
Protein Summary
Thioredoxin reductase 2 (TXNRD2) is a 524-amino acid mitochondrial selenoprotein that catalyzes the NADPH-dependent reduction of oxidized thioredoxin. It contains a FAD-binding domain and a C-terminal selenocysteine residue critical for electron transfer. The enzyme protects mitochondria from oxidative damage and is essential for adrenal and cardiac function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TXNRD2 Knockout HEK293 Cell Line | EDJ-KQ7098 | Human | 10587 | Details Get a Quote |
| TXNRD2 Knockout A-549 Cell Line | EDJ-KQ31949 | Human | 10587 | Details Get a Quote |
| TXNRD2 Knockout HeLa Cell Line | EDJ-KQ31951 | Human | 10587 | Details Get a Quote |
| TXNRD2 Knockout HCT 116 Cell Line | EDJ-KQ30567 | Human | 10587 | Details Get a Quote |
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