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 encod... See more...

Aliases for TXNRD2 Gene

Aliases for TXNRD2 Gene

  • Thioredoxin Reductase 2 2 3 5
  • Selenoprotein Z 2 3 4
  • Thioredoxin Reductase 2, Mitochondrial 3 4
  • Thioredoxin Reductase Beta 2 3
  • Thioredoxin Reductase TR3 3 4
  • EC 1.8.1.9 4 52
  • TRXR2 3 4
  • Thioredoxin Reductase 3 3
  • KIAA1652 4
  • EC 1.8.1 52
  • TR-BETA 3
  • TR-Beta 4
  • GCCD5 3
  • SELZ 3
  • SelZ 4
  • 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 Glucocorticoid Deficiency 5 and Familial Glucocorticoid Deficiency. Among its related pathways are Pathways in cancer and Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF). Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NADP binding. An important paralog of this gene is TXNRD1.

UniProtKB/Swiss-Prot Summary for TXNRD2 Gene

  • Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis (PubMed:24601690). Maintains thioredoxin in a reduced state. 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 , Rfam classification and piRNA Summary for TXNRD2 Gene

Genomics for TXNRD2 Gene

GeneHancer (GH) Regulatory Elements for TXNRD2 Gene

Promoters and enhancers for TXNRD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TXNRD2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TXNRD2

Top Transcription factor binding sites by QIAGEN in the TXNRD2 gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for TXNRD2 Gene

Genomic Locations for TXNRD2 Gene
chr22:19,875,517-19,941,992
(GRCh38/hg38)
Size:
66,476 bases
Orientation:
Minus strand
chr22:19,863,040-19,929,359
(GRCh37/hg19)
Size:
66,320 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; Note=Truncated C-terminus.; 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

Domains & Families for TXNRD2 Gene

Gene Families for TXNRD2 Gene

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

Protein Domains for TXNRD2 Gene

Blocks:
  • Pyridine nucleotide-disulphide oxidoreductase, NAD-binding region
  • FAD-dependent pyridine nucleotide reductase signature
  • Pyridine nucleotide-disulphide oxidoreductase, class I
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TXNRD2 Gene

GenScript: Design optimal peptide antigens:
  • TXNRD2 protein (A4FTY4_HUMAN)
  • TXNRD2 protein (Q17RE6_HUMAN)
  • KIAA1652 protein (Q9BYA8_HUMAN)
  • Thioredoxin reductase TR3 (TRXR2_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis (PubMed:24601690). Maintains thioredoxin in a reduced state. May play a role in redox-regulated cell signaling.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[thioredoxin]-dithiol + NADP(+) = [thioredoxin]-disulfide + H(+) + NADPH; Xref=Rhea:RHEA:20345, Rhea:RHEA-COMP:10698, Rhea:RHEA-COMP:10700, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.8.1.9;.
GENATLAS Biochemistry:
thioredoxin reductase 2,localized in the mitochondria,expressed in prostate,testis,liver

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 transfer 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TXNRD2

Clone Products

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
plasma membrane 2
extracellular 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 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:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IBA,IDA 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 GeneGo (Thomson Reuters) pathway for TXNRD2 Gene
  • Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
1 Qiagen pathway for TXNRD2 Gene
  • Antioxidant Action of Vitamin-C
1 Cell Signaling Technology 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:0022900 electron transport chain IEA --
GO:0034599 cellular response to oxidative stress TAS --
GO:0045454 cell redox homeostasis IEA,IMP 24601690
GO:0055114 oxidation-reduction process 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Selenium Approved, Investigational, Vet_approved Pharma 226
FAD Approved Pharma 0
Water Approved Pharma 0
Selenocysteine Experimental Pharma 0
NADP Experimental Pharma 0

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

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
  • [seo(OH)2]
  • Selenige saeure
  • Selenious acid
  • Selenite
  • Acid, selenious
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
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
Hydrogen selenide
  • [SeH2]
  • H2Se
  • Hydroselenic acid
  • Hydroselenate
  • Dihydrogen monoselenide
genes like me logo Genes that share compounds with TXNRD2: view

Transcripts for TXNRD2 Gene

mRNA/cDNA for TXNRD2 Gene

8 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TXNRD2

Clone Products

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

Expression for TXNRD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TXNRD2 Gene



Protein tissue co-expression partners for TXNRD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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. High expression is observed in the adrenal cortex (PubMed:24601690).

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
Regions:
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

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 31 30
  • 99.31 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TXNRD2 31 30
  • 86.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TXNRD2 31 30
  • 83.33 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Txnrd2 17 31 30
  • 82.79 (n)
rat
(Rattus norvegicus)
Mammalia Txnrd2 30
  • 82.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TXNRD2 31
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TXNRD2 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves TXNRD2 31 30
  • 70.22 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia txnrd2 30
  • 68.24 (n)
African clawed frog
(Xenopus laevis)
Amphibia txnrd2-prov 30
zebrafish
(Danio rerio)
Actinopterygii txnrd2 31
  • 70 (a)
OneToMany
TXNRD2 (1 of 2) 31
  • 67 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta TRXR 30
  • 62.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta Trxr-1 31 32 30
  • 60.07 (n)
OneToMany
Trxr-2 31 32
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea trxr-2 31 30
  • 51.4 (n)
ManyToMany
ZK637.10 32
  • 48 (a)
C06G3.7 32
  • 48 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLR1 31
  • 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

(5) SIMAP similar genes for TXNRD2 Gene using alignment to 9 proteins:

  • TRXR2_HUMAN
  • A4FTY4_HUMAN
  • D3YTF8_HUMAN
  • D3YTF9_HUMAN
  • E7ENA2_HUMAN
  • E7EWK1_HUMAN
  • F5H1L4_HUMAN
  • F5H2V0_HUMAN
  • Q17RE6_HUMAN
genes like me logo Genes that share paralogs with TXNRD2: view

Variants for TXNRD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TXNRD2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
570724 Uncertain Significance: Primary dilated cardiomyopathy 19,919,558(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
571531 Uncertain Significance: Primary dilated cardiomyopathy 19,911,428(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
572761 Uncertain Significance: Primary dilated cardiomyopathy 19,880,713(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
573013 Uncertain Significance: Primary dilated cardiomyopathy 19,895,535(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
575087 Uncertain Significance: Primary dilated cardiomyopathy 19,895,522(-) G/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TXNRD2 Gene

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)

Additional Variant Information 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

(20) MalaCards diseases for TXNRD2 Gene - From: OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TRXR2_HUMAN
  • Glucocorticoid deficiency 5 (GCCD5) [MIM:617825]: A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. {ECO:0000269 PubMed:24601690}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TXNRD2

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

No data available for 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 23 41 54
  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 23 41 54
  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 23 54
  4. Cloning, sequencing and functional expression of a novel human thioredoxin reductase. (PMID: 9923614) Gasdaska PY … Powis G (FEBS letters 1999) 2 3 4 54
  5. 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 23 54

Products for TXNRD2 Gene

Sources for TXNRD2 Gene