TXNRD2

thioredoxin reductase 2

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]

Known Variants629 total

rsidPosition (GRCh37)AllelesClassClinVar
rs104473222:19,863,142T/C—benign
rs728707322:19,864,335G/A—benign
rs55462734322:19,864,625C/T—likely benign
rs89033970822:19,864,628T/G—uncertain significance
rs118028854322:19,864,630A/G—uncertain significance
rs251726644022:19,864,631C/T—likely benign
rs76366630522:19,864,643T/G—likely benign
rs77470859822:19,864,644G/C—uncertain significance
rs14449709022:19,864,649C/T—likely benign
rs37244667322:19,864,650G/A—uncertain significance
rs75619621622:19,864,654G/A—uncertain significance
rs122199302522:19,864,657C/G—uncertain significance
rs124798474922:19,864,665G/C—uncertain significance
rs37570827922:19,864,668C/T—uncertain significance
rs20194341522:19,864,669G/A—uncertain significance
rs20139100022:19,864,680C/T—likely benign
rs36817690722:19,864,681G/A—uncertain significance
rs251726662922:19,864,682C/A—likely benign
rs103619165122:19,864,688G/A—likely benign
rs75961313722:19,864,689A/T—uncertain significance
rs76925840822:19,864,692A/G—uncertain significance
rs20061988922:19,864,694C/T—likely benign
rs116867907022:19,864,703G/A—likely benign
rs55406399522:19,864,704C/A—likely benign
rs37496734322:19,864,705A/G—uncertain significance
rs96958264622:19,864,706T/C—likely benign
rs251726672122:19,864,707G/A—uncertain significance
rs156906810522:19,864,711G/A—uncertain significance
rs77394948722:19,864,719C/T—uncertain significance
rs76220346522:19,864,723C/T—uncertain significance
rs76784440222:19,864,724G/A—likely benign
rs37533850322:19,864,725G/A—uncertain significance
rs36856176422:19,864,728C/T—conflicting classifications of pathogenicity
rs14613376422:19,864,729G/A—conflicting classifications of pathogenicity
rs131706461922:19,864,732T/C—uncertain significance
rs75965039122:19,864,738G/A—uncertain significance
rs37281698222:19,864,739C/T—likely benign
rs75294703422:19,864,740G/A—conflicting classifications of pathogenicity
rs75717980122:19,864,741C/A—uncertain significance
rs37636316222:19,864,742A/G—likely benign
rs36771138022:19,864,743T/C—uncertain significance
rs96096254222:19,864,750C/A—uncertain significance
rs140907464722:19,864,752C/T—uncertain significance
rs119474341022:19,864,754A/G—likely benign
rs37179759822:19,864,757C/A—uncertain significance
rs90757160422:19,864,764A/G—likely benign
rs74885866222:19,864,765T/C—likely benign
rs77858326422:19,864,771A/G—likely benign
rs74778377422:19,864,772T/C—likely benign
rs11658386822:19,864,827G/A—likely benign
rs7338189222:19,864,960C/T—benign
rs1698430022:19,865,359C/T—benign
rs4143114722:19,865,595G/C—likely benign
rs93802972522:19,865,600C/A—likely benign
rs77036130222:19,865,603C/T—likely benign
rs53378224722:19,865,604G/A—likely benign
rs99253652522:19,865,606G/T—uncertain significance
rs91802185422:19,865,608C/G—uncertain significance
rs76307297022:19,865,613T/G—uncertain significance
rs75655986022:19,865,622A/G—uncertain significance
rs214592711422:19,865,623G/A—likely benign
rs155590697222:19,865,626C/G—uncertain significance
rs251726895422:19,865,627A/T—uncertain significance
rs214592713122:19,865,636A/C—likely benign
rs55384442722:19,865,638T/C—uncertain significance
rs76057031422:19,865,641C/T—uncertain significance
rs76607602722:19,865,644C/T—uncertain significance
rs75384146922:19,865,645G/A—likely benign
rs75491602422:19,865,646C/T—uncertain significance
rs93147820922:19,865,650C/T—uncertain significance
rs20006330022:19,865,651G/C—uncertain significance
rs75770434422:19,865,652T/C—uncertain significance
rs88603887322:19,865,657G/A—conflicting classifications of pathogenicity
rs78169148322:19,865,660A/G—likely benign
rs251726911522:19,865,671G/A—likely benign
rs124270035422:19,865,675C/T—likely benign
rs214592725622:19,865,677G/A—likely benign
rs77044278822:19,865,680C/T—uncertain significance
rs77610476722:19,865,682A/G—uncertain significance
rs214592727722:19,865,683G/A—likely benign
rs251726919222:19,865,687T/C—likely benign
rs138805645322:19,865,690G/A—likely benign
rs131839696122:19,865,708C/A—uncertain significance
rs76860005722:19,865,712T/C—uncertain significance
rs77469496722:19,865,719C/T—uncertain significance
rs120479503422:19,865,723C/T—likely benign
rs11360528522:19,865,869T/C—benign
rs143396276222:19,865,876C/T—likely benign
rs95380598922:19,865,894C/A—uncertain significance
rs20205996722:19,865,895A/Cstop gainedpathogenic
rs193860614022:19,865,902T/C—uncertain significance
rs193860631222:19,865,904G/T—likely benign
rs74964397622:19,865,905G/C—uncertain significance
rs75937438922:19,865,914C/T—uncertain significance
rs20016248022:19,865,915G/A—conflicting classifications of pathogenicity
rs20031233422:19,865,925C/T—likely benign
rs141069771922:19,865,926G/A—uncertain significance
rs19030192722:19,865,928G/A—likely benign
rs91997176722:19,865,931C/T—likely benign
rs251726995722:19,865,934C/T—likely benign

Showing 100 of 629 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.