Human Gene TXNRD2 (ENST00000400521.7_10) from GENCODE V47lift37
  Description: thioredoxin reductase 2, transcript variant 1 (from RefSeq NM_006440.5)
Gencode Transcript: ENST00000400521.7_10
Gencode Gene: ENSG00000184470.21_16
Transcript (Including UTRs)
   Position: hg19 chr22:19,863,045-19,929,341 Size: 66,297 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr22:19,864,628-19,929,326 Size: 64,699 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:19,863,045-19,929,341)mRNA (may differ from genome)Protein (524 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TRXR2_HUMAN
DESCRIPTION: RecName: Full=Thioredoxin reductase 2, mitochondrial; EC=1.8.1.9; AltName: Full=Selenoprotein Z; Short=SelZ; AltName: Full=TR-beta; AltName: Full=Thioredoxin reductase TR3; Flags: Precursor;
FUNCTION: Maintains thioredoxin in a reduced state. Implicated in the defenses against oxidative stress. May play a role in redox- regulated cell signaling.
CATALYTIC ACTIVITY: Thioredoxin + NADP(+) = thioredoxin disulfide + NADPH.
COFACTOR: FAD (By similarity).
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Mitochondrion.
TISSUE SPECIFICITY: Highly expressed in the prostate, ovary, liver, testis, uterus, colon and small intestine. Intermediate levels in brain, skeletal muscle, heart and spleen. Low levels in placenta, pancreas, thymus and peripheral blood leukocytes. According to PubMed:10608886, high levels in kidney, whereas according to PubMed:9923614, levels are low.
MISCELLANEOUS: The active site is a redox-active disulfide bond. The selenocysteine residue is essential for enzymatic activity (By similarity).
SIMILARITY: Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
SEQUENCE CAUTION: Sequence=AAD25167.1; Type=Erroneous initiation; Sequence=AAG47635.1; Type=Erroneous termination; Positions=523; Note=Translated as Sec;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TXNRD2
Diseases sorted by gene-association score: familial glucocorticoid deficiency* (184), familial isolated dilated cardiomyopathy* (97), thyroid hormone resistance (27), generalized resistance to thyroid hormone (13), kashin-beck disease (8), primary angle-closure glaucoma (8), neonatal thyrotoxicosis (7), graves disease 1 (7), goiter (7), thyroiditis (6), thyroid gland disease (6), image syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.50 RPKM in Adrenal Gland
Total median expression: 316.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -153.40351-0.437 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016156 - FAD/NAD-linked_Rdtase_dimer
IPR013027 - FAD_pyr_nucl-diS_OxRdtase
IPR004099 - Pyr_nucl-diS_OxRdtase_dimer
IPR023753 - Pyr_nucl-diS_OxRdtase_FAD/NAD
IPR012999 - Pyr_OxRdtase_I_AS
IPR001327 - Pyr_OxRdtase_NAD-bd_dom
IPR006338 - Thioredoxin/glutathione_Rdtase

Pfam Domains:
PF00070 - Pyridine nucleotide-disulphide oxidoreductase
PF00890 - FAD binding domain
PF02852 - Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
PF07992 - Pyridine nucleotide-disulphide oxidoreductase

SCOP Domains:
51294 - Hedgehog/intein (Hint) domain
51735 - NAD(P)-binding Rossmann-fold domains
51905 - FAD/NAD(P)-binding domain
52440 - PreATP-grasp domain
51971 - Nucleotide-binding domain
51984 - MurCD N-terminal domain
55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1W1E - Model


ModBase Predicted Comparative 3D Structure on Q9NNW7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004791 thioredoxin-disulfide reductase activity
GO:0005515 protein binding
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0016668 oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor
GO:0050660 flavin adenine dinucleotide binding

Biological Process:
GO:0000305 response to oxygen radical
GO:0022900 electron transport chain
GO:0034599 cellular response to oxidative stress
GO:0045454 cell redox homeostasis
GO:0055114 oxidation-reduction process
GO:0098869 cellular oxidant detoxification

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB019694 - Homo sapiens mRNA for thioredoxin reductase II alpha, partial cds.
AF166127 - Homo sapiens selenoprotein Zf2 mRNA, complete cds.
AK097708 - Homo sapiens cDNA FLJ40389 fis, clone TESTI2036691, highly similar to Thioredoxin reductase 2, mitochondrial precursor (EC 1.8.1.9).
BC038708 - Homo sapiens cDNA clone IMAGE:3850537, containing frame-shift errors.
AF171054 - Homo sapiens thioredoxin reductase TR3 mRNA, complete cds.
AF106697 - Homo sapiens thioredoxin reductase mRNA, complete cds.
AB209724 - Homo sapiens mRNA for thioredoxin reductase 2 isoform 1 precursor variant protein.
AF044212 - Homo sapiens thioredoxin reductase mRNA, nuclear gene encoding mitochondrial protein, complete cds.
AF201385 - Homo sapiens mitochondrial thioredoxin reductase (TRXR2A) mRNA, complete cds, alternatively spliced; nuclear gene for mitochondrial product.
BC099923 - Homo sapiens thioredoxin reductase 2, mRNA (cDNA clone MGC:105047 IMAGE:5213425), complete cds.
AB019695 - Homo sapiens mRNA for thioredoxin reductase II beta, complete cds.
AF166126 - Homo sapiens selenoprotein Zf1 mRNA, complete cds.
BC032029 - Homo sapiens thioredoxin reductase 2, mRNA (cDNA clone IMAGE:4823296).
BC007489 - Homo sapiens thioredoxin reductase 2, mRNA (cDNA clone IMAGE:3833751), partial cds.
AK094698 - Homo sapiens cDNA FLJ37379 fis, clone BRAMY2025272, highly similar to Homo sapiens mRNA for thioredoxin reductase II alpha.
JD482951 - Sequence 463975 from Patent EP1572962.
BC117354 - Homo sapiens thioredoxin reductase 2, mRNA (cDNA clone MGC:150963 IMAGE:40125905), complete cds.
JD534597 - Sequence 515621 from Patent EP1572962.
JD161179 - Sequence 142203 from Patent EP1572962.
JD213560 - Sequence 194584 from Patent EP1572962.
JD485578 - Sequence 466602 from Patent EP1572962.
JD209549 - Sequence 190573 from Patent EP1572962.
JD405424 - Sequence 386448 from Patent EP1572962.
HQ258445 - Synthetic construct Homo sapiens clone IMAGE:100072874 Unknown protein gene, encodes complete protein.
KJ902132 - Synthetic construct Homo sapiens clone ccsbBroadEn_11526 TXNRD2 gene, encodes complete protein.
BX957216 - Homo sapiens mRNA; cDNA DKFZp781E0833 (from clone DKFZp781E0833); complete cds.
CR749428 - Homo sapiens mRNA; cDNA DKFZp781E0833 (from clone DKFZp781E0833).
JD256052 - Sequence 237076 from Patent EP1572962.
JD215321 - Sequence 196345 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
THIOREDOX-PWY - thioredoxin pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9NNW7 (Reactome details) participates in the following event(s):

R-HSA-3323050 TXNRD2 catalyzes the reduction of TXN2 by NADPH
R-HSA-3299685 Detoxification of Reactive Oxygen Species
R-HSA-2262752 Cellular responses to stress
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000400521.1, ENST00000400521.2, ENST00000400521.3, ENST00000400521.4, ENST00000400521.5, ENST00000400521.6, KIAA1652, NM_006440, O95840, Q96IJ2, Q9H2Z5, Q9NNW7, Q9NZV3, Q9NZV4, Q9P2Y0, Q9P2Y1, Q9UQU8, TRXR2, TRXR2_HUMAN, TXNRD2 , uc319axt.1, uc319axt.2
UCSC ID: ENST00000400521.7_10
RefSeq Accession: NM_006440.5
Protein: Q9NNW7 (aka TRXR2_HUMAN or TXN2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.