TXNRD2 thioredoxin reductase 2
Gene ID: 10587, updated on 11-Apr-2024Gene type: protein coding
Also known as: TR; TR3; SELZ; GCCD5; TRXR2; TXNR2; TR-BETA
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- Go to complete Gene record for TXNRD2
- Go to Variation Viewer for TXNRD2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections. GeneReviews: Not available | |
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. GeneReviews: Not available | |
Glucocorticoid deficiency 5 | See labs |
Genomic context
- Location:
- 22q11.21
- Sequence:
- Chromosome: 22; NC_000022.11 (19875522..19941818, complement)
- Total number of exons:
- 22
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for TXNRD2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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