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Aliases for TXNRD2 Gene

Aliases for TXNRD2 Gene

  • Thioredoxin Reductase 2 2 3 5
  • Selenoprotein Z 2 3 4
  • Thioredoxin Reductase Beta 2 3
  • Thioredoxin Reductase TR3 3 4
  • EC 1.8.1.9 4 58
  • TR-BETA 3 4
  • TRXR2 3 4
  • SELZ 3 4
  • Thioredoxin Reductase 2, Mitochondrial 3
  • Thioredoxin Reductase 3 3
  • KIAA1652 4
  • EC 1.8.1 58
  • TR3 3
  • TR 3

External Ids for TXNRD2 Gene

Previous GeneCards Identifiers for TXNRD2 Gene

  • GC22M016803
  • GC22M018237
  • GC22M003482

Summaries for TXNRD2 Gene

Entrez Gene Summary for TXNRD2 Gene

  • 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]

GeneCards Summary for TXNRD2 Gene

TXNRD2 (Thioredoxin Reductase 2) is a Protein Coding gene. Diseases associated with TXNRD2 include Familial Glucocorticoid Deficiency and Familial Isolated Dilated Cardiomyopathy. Among its related pathways are Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) and Cellular Senescence (REACTOME). GO annotations related to this gene include oxidoreductase activity and NADP binding. An important paralog of this gene is TXNRD1.

UniProtKB/Swiss-Prot for TXNRD2 Gene

  • Maintains thioredoxin in a reduced state. Implicated in the defenses against oxidative stress. May play a role in redox-regulated cell signaling.

Additional gene information for TXNRD2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TXNRD2 Gene

Genomics for TXNRD2 Gene

Regulatory Elements for TXNRD2 Gene

Enhancers for TXNRD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H019874 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.5 +63.1 63075 9 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 FOS SP5 RPL8P5 LOC100420177 LINC01311 TXNRD2 ZNF74 DGCR8 ENSG00000273343 TRMT2A KLHL22 GNB1L
GH22H019884 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.2 +55.3 55343 5 PKNOX1 ATF1 ZNF766 ATF7 EGR2 ZBTB2 CEBPB HDAC8 HMBOX1 MYC TXNRD2 RPL8P5 GNB1L RTL10 COMT TRMT2A GC22M019875
GH22H019947 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12 -8.7 -8732 7 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 ZNF2 CBX5 DGCR8 TRMT2A LOC100420177 LINC01311 RPL8P5 ENSG00000273300 MED15 DGCR11 RPL7AP70 ZDHHC8
GH22H019940 1.7 FANTOM5 ENCODE dbSUPER 13.3 -0.7 -721 4 HNRNPUL1 PKNOX1 ARID4B FEZF1 DMAP1 ZNF2 YY1 ZNF143 ZHX2 ZC3H11A DGCR8 LINC01311 TRMT2A LOC100420177 MED15 COMT TXNRD2 RPL7AP70 DGCR11 UFD1
GH22H019852 1.4 ENCODE dbSUPER 15.2 +86.9 86944 4 HDGF MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 TRMT2A LINC01311 TXNRD2 RTL10 DGCR8 GNB1L RPL8P5 RANBP1 ESS2 LOC100420177
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TXNRD2 on UCSC Golden Path with GeneCards custom track

Promoters for TXNRD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000143819 -8 1601 HNRNPUL1 ARID4B DMAP1 YY1 GLIS2 ELK1 ZNF143 YY2 ZHX2 ZC3H11A

Genomic Location for TXNRD2 Gene

Chromosome:
22
Start:
19,875,517 bp from pter
End:
19,941,992 bp from pter
Size:
66,476 bases
Orientation:
Minus strand

Genomic View for TXNRD2 Gene

Genes around TXNRD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TXNRD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TXNRD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TXNRD2 Gene

Proteins for TXNRD2 Gene

  • Protein details for TXNRD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NNW7-TRXR2_HUMAN
    Recommended name:
    Thioredoxin reductase 2, mitochondrial
    Protein Accession:
    Q9NNW7
    Secondary Accessions:
    • O95840
    • Q96IJ2
    • Q9H2Z5
    • Q9NZV3
    • Q9NZV4
    • Q9P2Y0
    • Q9P2Y1
    • Q9UQU8

    Protein attributes for TXNRD2 Gene

    Size:
    524 amino acids
    Molecular mass:
    56507 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • The active site is a redox-active disulfide bond. The selenocysteine residue is essential for enzymatic activity (By similarity).
    SequenceCaution:
    • Sequence=AAD25167.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAG47635.1; Type=Erroneous termination; Positions=523; Note=Translated as Sec.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TXNRD2 Gene

    Alternative splice isoforms for TXNRD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TXNRD2 Gene

Selected DME Specific Peptides for TXNRD2 Gene

Q9NNW7:
  • NVPTTVFTPLEYG
  • LGPNAGE
  • VPTTVFTPLEYGCVGLSEE
  • VGLSEEEAV
  • PGKTLVVGA
  • KRSGLDPT
  • GGGSGGLA
  • TLVVGASYV
  • CIPKKLMHQAALLG
  • AVQNHVKSLNWGHR
  • YKPLEFTV
  • TTVFTPLE
  • QLQDRKVKYFN

Post-translational modifications for TXNRD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TXNRD2 (TXNRD2)

Domains & Families for TXNRD2 Gene

Gene Families for TXNRD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for TXNRD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NNW7

UniProtKB/Swiss-Prot:

TRXR2_HUMAN :
  • Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
Family:
  • Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
genes like me logo Genes that share domains with TXNRD2: view

Function for TXNRD2 Gene

Molecular function for TXNRD2 Gene

GENATLAS Biochemistry:
thioredoxin reductase 2,localized in the mitochondria,expressed in prostate,testis,liver
UniProtKB/Swiss-Prot CatalyticActivity:
Thioredoxin + NADP(+) = thioredoxin disulfide + NADPH.
UniProtKB/Swiss-Prot Function:
Maintains thioredoxin in a reduced state. Implicated in the defenses against oxidative stress. May play a role in redox-regulated cell signaling.

Enzyme Numbers (IUBMB) for TXNRD2 Gene

Phenotypes From GWAS Catalog for TXNRD2 Gene

Gene Ontology (GO) - Molecular Function for TXNRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004791 thioredoxin-disulfide reductase activity ISS,TAS --
GO:0005515 protein binding IPI 20413580
GO:0009055 electron carrier activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016668 oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor IEA --
genes like me logo Genes that share ontologies with TXNRD2: view
genes like me logo Genes that share phenotypes with TXNRD2: view

Human Phenotype Ontology for TXNRD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TXNRD2 Gene

MGI Knock Outs for TXNRD2:

Animal Model Products

  • Taconic Biosciences Mouse Models for TXNRD2

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TXNRD2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for TXNRD2 Gene

Localization for TXNRD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TXNRD2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TXNRD2 gene
Compartment Confidence
mitochondrion 5
cytosol 5
peroxisome 2
nucleus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TXNRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005739 mitochondrion IDA,IEA 10215850
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with TXNRD2: view

Pathways & Interactions for TXNRD2 Gene

genes like me logo Genes that share pathways with TXNRD2: view

Pathways by source for TXNRD2 Gene

1 Cell Signaling Technology pathway for TXNRD2 Gene
1 KEGG pathway for TXNRD2 Gene
1 GeneGo (Thomson Reuters) pathway for TXNRD2 Gene
1 Qiagen pathway for TXNRD2 Gene

Gene Ontology (GO) - Biological Process for TXNRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000305 response to oxygen radical TAS 10455115
GO:0034599 cellular response to oxidative stress TAS --
GO:0045454 cell redox homeostasis IEA,IBA --
GO:0055114 oxidation-reduction process IEA --
GO:0098869 cellular oxidant detoxification IEA --
genes like me logo Genes that share ontologies with TXNRD2: view

No data available for SIGNOR curated interactions for TXNRD2 Gene

Drugs & Compounds for TXNRD2 Gene

(33) Drugs for TXNRD2 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Selenium Approved, Vet_approved Pharma 185
FAD Approved Pharma 0
Water Approved Pharma 0
Selenocysteine Experimental Pharma 0
motexafin gadolinium Investigational Pharma inhibitor, Target 38

(25) Additional Compounds for TXNRD2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
selenite
  • Selenite (SeO32-)
  • Selenite ion (SeO32-)
  • Selenite ion(2-)
  • Selenite(2-)
14124-67-5
3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid
  • 2-KDN
  • 2-Keto-3-deoxy-D-glycero-D-galacto-nononate
  • 2-Keto-3-deoxy-D-glycero-D-galacto-nononic acid
  • 2-Oxo-3-deoxy-D-glycero-galactononulosonate
  • 2-Oxo-3-deoxy-D-glycero-galactononulosonic acid
22594-61-2
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Hydrogen selenide
  • Dihydrogen monoselenide
  • Dihydrogen selenide
  • Hydrogen selenide
  • Selane
  • Selenium dihydride
genes like me logo Genes that share compounds with TXNRD2: view

Transcripts for TXNRD2 Gene

Unigene Clusters for TXNRD2 Gene

Thioredoxin reductase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TXNRD2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TXNRD2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c
SP1: - - - -
SP2:
SP3: - - - - -
SP4: -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for TXNRD2 Gene

GeneLoc Exon Structure for
TXNRD2
ECgene alternative splicing isoforms for
TXNRD2

Expression for TXNRD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TXNRD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TXNRD2 Gene

This gene is overexpressed in Stomach (9.2), Lymph node (7.1), and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TXNRD2 Gene



Protein tissue co-expression partners for TXNRD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TXNRD2 Gene:

TXNRD2

SOURCE GeneReport for Unigene cluster for TXNRD2 Gene:

Hs.443430

mRNA Expression by UniProt/SwissProt for TXNRD2 Gene:

Q9NNW7-TRXR2_HUMAN
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.

Evidence on tissue expression from TISSUES for TXNRD2 Gene

  • Liver(4.5)
  • Heart(4.4)
  • Skin(4.3)
  • Adrenal gland(4.2)
  • Nervous system(3.8)
  • Thyroid gland(3.6)
  • Kidney(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TXNRD2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TXNRD2: view

Primer Products

No data available for mRNA differential expression in normal tissues for TXNRD2 Gene

Orthologs for TXNRD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TXNRD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TXNRD2 33 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia TXNRD2 33 34
  • 86.13 (n)
cow
(Bos Taurus)
Mammalia TXNRD2 33 34
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Txnrd2 33 16 34
  • 82.79 (n)
rat
(Rattus norvegicus)
Mammalia Txnrd2 33
  • 82.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TXNRD2 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TXNRD2 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves TXNRD2 33 34
  • 70.22 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia txnrd2 33
  • 68.24 (n)
African clawed frog
(Xenopus laevis)
Amphibia txnrd2-prov 33
zebrafish
(Danio rerio)
Actinopterygii txnrd2 34
  • 70 (a)
OneToMany
TXNRD2 (1 of 2) 34
  • 67 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta TRXR 33
  • 62.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta Trxr-1 35 33 34
  • 60.07 (n)
Trxr-2 35 34
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea trxr-2 33 34
  • 51.4 (n)
C06G3.7 35
  • 48 (a)
ZK637.10 35
  • 48 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLR1 34
  • 34 (a)
OneToMany
Species where no ortholog for TXNRD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TXNRD2 Gene

ENSEMBL:
Gene Tree for TXNRD2 (if available)
TreeFam:
Gene Tree for TXNRD2 (if available)

Paralogs for TXNRD2 Gene

Paralogs for TXNRD2 Gene

genes like me logo Genes that share paralogs with TXNRD2: view

Variants for TXNRD2 Gene

Sequence variations from dbSNP and Humsavar for TXNRD2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs148092370 Likely benign 19,931,092(+) CCCGC(A/T)GACCT reference, missense
rs182857388 Likely benign 19,915,831(+) TTAAA(A/G)TACTT reference, synonymous-codon
rs187065627 Likely benign 19,895,423(+) AGGAC(A/G/T)GTGTC reference, synonymous-codon
rs200076623 Likely benign 19,918,931(+) AGCAG(C/G/T)GCCGC reference, synonymous-codon
rs201391000 Likely benign 19,877,157(+) AGATG(C/T)GCAGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TXNRD2 Gene

Variant ID Type Subtype PubMed ID
dgv1289e212 CNV loss 25503493
dgv1290e212 CNV loss 25503493
dgv72n68 CNV loss 17160897
dgv7983n54 CNV gain 21841781
esv1088050 CNV deletion 17803354
esv1459761 CNV insertion 17803354
esv2670386 CNV deletion 23128226
esv3310499 CNV novel sequence insertion 20981092
esv3347530 CNV duplication 20981092
esv3418873 CNV duplication 20981092
esv3557937 CNV deletion 23714750
esv3568260 CNV loss 25503493
esv3568269 CNV loss 25503493
esv3575418 CNV gain 25503493
esv3647279 CNV gain 21293372
esv3647280 CNV gain 21293372
esv3647282 CNV loss 21293372
esv3893434 CNV gain 25118596
esv991750 CNV insertion 20482838
nsv1129685 CNV tandem duplication 24896259
nsv3559 CNV insertion 18451855
nsv469641 CNV loss 16826518
nsv513585 CNV insertion 21212237
nsv515664 CNV loss 19592680
nsv588238 CNV loss 21841781
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv834129 CNV loss 17160897
nsv834130 CNV loss 17160897
nsv953025 CNV deletion 24416366

Variation tolerance for TXNRD2 Gene

Residual Variation Intolerance Score: 70.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.05; 95.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TXNRD2 Gene

Human Gene Mutation Database (HGMD)
TXNRD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TXNRD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TXNRD2 Gene

Disorders for TXNRD2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for TXNRD2 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
familial glucocorticoid deficiency
  • acth resistance
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
thyroid hormone resistance
  • thyroid hormone resistance syndrome
generalized resistance to thyroid hormone
  • thyroid hormone resistance syndrome
kashin-beck disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TXNRD2

Genetic Association Database (GAD)
TXNRD2
Human Genome Epidemiology (HuGE) Navigator
TXNRD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TXNRD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TXNRD2
genes like me logo Genes that share disorders with TXNRD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TXNRD2 Gene

Publications for TXNRD2 Gene

  1. Genetic variants in selenoprotein genes increase risk of colorectal cancer. (PMID: 20378690) Méplan C … Hesketh JE (Carcinogenesis 2010) 3 22 45 60
  2. [Association of genetic polymorphisms in selenoprotein GPX1 and TXNRD2 with genetic susceptibility of gastric cancer]. (PMID: 19035188) Wang J … Xiao Y (Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] 2008) 3 22 45 60
  3. Heterogeneity within animal thioredoxin reductases. Evidence for alternative first exon splicing. (PMID: 11060283) Sun QA … Gladyshev VN (The Journal of biological chemistry 2001) 3 4 22 60
  4. Redox regulation of cell signaling by selenocysteine in mammalian thioredoxin reductases. (PMID: 10455115) Sun QA … Gladyshev VN (The Journal of biological chemistry 1999) 3 4 22 60
  5. Human mitochondrial thioredoxin reductase cDNA cloning, expression and genomic organization. (PMID: 10215850) Miranda-Vizuete A … Spyrou G (European journal of biochemistry 1999) 2 3 4 60

Products for TXNRD2 Gene

Sources for TXNRD2 Gene

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