Gene: TXNRD2

Alternate names for this Gene: GCCD5|SELZ|TR|TR-BETA|TR3|TRXR2

Gene 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21

Description of this Gene: thioredoxin reductase 2

Type of Gene: protein-coding

rs202059967 in TXNRD2 gene and GLUCOCORTICOID DEFICIENCY 5 PMID 24601690 2014 Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

rs3788317 in TXNRD2 gene and Glaucoma PMID 22922875 2012 Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

rs35934224 in TXNRD2 gene and Glaucoma, Open-Angle PMID 26752265 2016 Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

PMID 22922875 2012 Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.