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TXNRD2 thioredoxin reductase 2 [ Homo sapiens (human) ]

Gene ID: 10587, updated on 13-Jul-2019

Summary

Official Symbol
TXNRD2provided by HGNC
Official Full Name
thioredoxin reductase 2provided by HGNC
Primary source
HGNC:HGNC:18155
See related
Ensembl:ENSG00000184470 MIM:606448
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TR; TR3; SELZ; GCCD5; TRXR2; TR-BETA
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]
Expression
Ubiquitous expression in adrenal (RPKM 8.7), prostate (RPKM 8.7) and 25 other tissues See more
Orthologs

Genomic context

See TXNRD2 in Genome Data Viewer
Location:
22q11.21
Exon count:
22
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19875518..19941992, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19863040..19929359, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene G protein subunit beta 1 like Neighboring gene ribosomal protein L7a pseudogene 70 Neighboring gene retrotransposon Gag like 10 Neighboring gene ribosomal protein L8 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 10527 Neighboring gene Sharpr-MPRA regulatory region 2516 Neighboring gene catechol-O-methyltransferase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
GLUCOCORTICOID DEFICIENCY 5
MedGen: C4540522 OMIM: 617825 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections.
NHGRI GWA Catalog
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
matrix gag HIV-1 MA upregulates TXNRD2 (TR3) gene expression in HepG2 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
electron transfer activity IEA
Inferred from Electronic Annotation
more info
 
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thioredoxin-disulfide reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thioredoxin-disulfide reductase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cell redox homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell redox homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxidative stress TAS
Traceable Author Statement
more info
 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
response to oxygen radical TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
thioredoxin reductase 2, mitochondrial
Names
selenoprotein Z
thioredoxin reductase 3
thioredoxin reductase TR3
thioredoxin reductase beta
NP_001269441.1
NP_001339229.1
NP_001339230.1
NP_001339231.1
NP_001339232.1
NP_006431.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011835.1 RefSeqGene

    Range
    4845..71320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_417

mRNA and Protein(s)

  1. NM_001282512.3NP_001269441.1  thioredoxin reductase 2, mitochondrial isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks several exons in the 3' coding region, and contains an alternate 3' terminal exon compared to variant 1. The resulting isoform (5) is shorter, with a distinct C-terminus (lacking selenocysteine) compared to isoform 1.
    Source sequence(s)
    AC000078, AF044212, AF106697, BM678200, BX109590, CD742908
    Consensus CDS
    CCDS63402.1
    UniProtKB/TrEMBL
    E7EWK1
    Related
    ENSP00000334451.9, ENST00000334363.14
    Conserved Domains (2) summary
    pfam00070
    Location:220295
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    cl14785
    Location:124190
    FMT_C_like; Carboxy-terminal domain of Formyltransferase and similar domains
  2. NM_001352300.2NP_001339229.1  thioredoxin reductase 2, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as TrxR2A) uses an alternate in-frame acceptor splice site at an internal coding exon, and contains an unspliced 3' UTR compared to variant 1. The resulting isoform (2) is 1 aa shorter than isoform 1. It is localized to the mitochondria, and its overexpression results in increased apoptosis (PMID:16298692).
    Source sequence(s)
    AF044212, AF106697, AF166126, AF201385
    Consensus CDS
    CCDS87001.1
    Related
    ENSP00000383363.1, ENST00000400519.6
    Conserved Domains (1) summary
    cl27343
    Location:38523
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
  3. NM_001352301.1NP_001339230.1  thioredoxin reductase 2, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and uses an alternate in-frame translation initiation codon compared to variant 1. The resulting isoform (3) has a distinct and shorter N-terminus lacking the N-terminal mitochondrial targeting signal, compared to isoform 1, so it is likely localized in the cytosol.
    Source sequence(s)
    AB019695, AF044212, AF166126
    Consensus CDS
    CCDS86999.1
    Related
    ENSP00000383362.1, ENST00000400518.5
    Conserved Domains (1) summary
    cl27343
    Location:9494
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
  4. NM_001352302.1NP_001339231.1  thioredoxin reductase 2, mitochondrial isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The encoded isoform (4, also known as hTR3c) has a shorter N-terminus compared to isoform 1. It is localized in the cytosol (PMID:16774913).
    Source sequence(s)
    AF044212, AF166126, AF166127
    Consensus CDS
    CCDS86998.1
    Related
    ENSP00000485128.2, ENST00000542719.6
    Conserved Domains (1) summary
    cl27343
    Location:1428
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
  5. NM_001352303.1NP_001339232.1  thioredoxin reductase 2, mitochondrial isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains alternate 5' and 3' terminal exons compared to variant 1. The resulting shorter isoform (6, also known as hTR3b) has distinct N- and C- termini compared to isoform 1, and lacks selenocysteine. It is localized in the cytosol (PMID:16774913).
    Source sequence(s)
    AC000090, AF044212, BM678200, BX109590, BX957216, CD742908
    Consensus CDS
    CCDS87000.1
    Related
    ENSP00000485543.1, ENST00000491939.6
    Conserved Domains (1) summary
    cl27343
    Location:7288
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
  6. NM_006440.5NP_006431.2  thioredoxin reductase 2, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_006431.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longest isoform (1, also known as hTR3a). This isoform is localized to the mitochondria (PMID:16774913).
    Source sequence(s)
    AF044212, AF106697, R46611
    Consensus CDS
    CCDS42981.1
    UniProtKB/Swiss-Prot
    Q9NNW7
    Related
    ENSP00000383365.1, ENST00000400521.7
    Conserved Domains (4) summary
    TIGR01438
    Location:39524
    TGR; thioredoxin and glutathione reductase selenoprotein
    pfam00070
    Location:220295
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam02852
    Location:396505
    Pyr_redox_dim; Pyridine nucleotide-disulphide oxidoreductase, dimerization domain
    cl14785
    Location:124190
    FMT_C_like; Carboxy-terminal domain of Formyltransferase and similar domains

RNA

  1. NR_147957.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate acceptor splice site at the penultimate exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translation start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF044212, AF106697, AF166126, AK097708
    Related
    ENST00000474308.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    19875518..19941992 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_145747.1: Suppressed sequence

    Description
    NM_145747.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_145748.1: Suppressed sequence

    Description
    NM_145748.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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