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Aliases for TXN2 Gene

Aliases for TXN2 Gene

  • Thioredoxin 2 2 3 5
  • MT-TRX 3 4
  • TRX2 3 4
  • MTRX 3 4
  • Thioredoxin, Mitochondrial 3
  • Mitochondrial Thioredoxin 3
  • Thioredoxin-2 4
  • COXPD29 3
  • TXN 3

External Ids for TXN2 Gene

Previous GeneCards Identifiers for TXN2 Gene

  • GC22M033477
  • GC22M035105
  • GC22M035106
  • GC22M035187
  • GC22M036863
  • GC22M019831

Summaries for TXN2 Gene

Entrez Gene Summary for TXN2 Gene

  • This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for TXN2 Gene

TXN2 (Thioredoxin 2) is a Protein Coding gene. Diseases associated with TXN2 include Combined Oxidative Phosphorylation Defect Type 29 and Ocular Hypertension. Among its related pathways are MAPK Signaling: Oxidative Stress Pathway and Cellular Senescence. GO annotations related to this gene include protein complex binding and oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor.

UniProtKB/Swiss-Prot for TXN2 Gene

  • Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Possesses a dithiol-reducing activity.

Gene Wiki entry for TXN2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TXN2 Gene

Genomics for TXN2 Gene

Regulatory Elements for TXN2 Gene

Enhancers for TXN2 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
GH22G036348 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +113.2 113210 40.9 MLX CREB3L1 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TXN2 ENSG00000252225 FOXRED2 MYH9 LOC105377199 APOL3 EIF3D ENSG00000228719 APOL2 NCF4
GH22G036321 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +148.4 148447 24.5 MLX CREB3L1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 NFYC TBX21 MEF2D TXN2 ENSG00000252225 EIF3D RPS15AP38 IFT27 APOL3 GC22M036334 GC22P036326
GH22G036457 2 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +16.7 16729 15.7 HDGF PKNOX1 ARNT AGO1 ARID4B SIN3A ZNF2 YY1 ZNF143 ZNF207 FOXRED2 ENSG00000252225 RPS15AP38 TXN2 ENSG00000228719 EIF3D MYH9 LOC105373018
GH22G036277 1.3 Ensembl ENCODE dbSUPER 11.6 +204.2 204195 1.1 ELF3 CTCF RAD21 GLIS2 POLR2A ADNP PATZ1 SCRT2 ZNF143 SMC3 TXN2 ENSG00000252225 APOL3 MIR6819 APOL1
GH22G036297 1.1 ENCODE dbSUPER 12 +180.0 179960 8.4 HDGF FOXA2 WRNIP1 ARID4B SIN3A ZNF2 ZNF48 RAD21 ZNF366 SCRT2 TXN2 ENSG00000252225 APOL3 GC22M036301 MIR6819
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TXN2 on UCSC Golden Path with GeneCards custom track

Promoters for TXN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145866 230 1601 PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for TXN2 Gene

Chromosome:
22
Start:
36,467,036 bp from pter
End:
36,482,030 bp from pter
Size:
14,995 bases
Orientation:
Minus strand

Genomic View for TXN2 Gene

Genes around TXN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TXN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TXN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TXN2 Gene

Proteins for TXN2 Gene

  • Protein details for TXN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99757-THIOM_HUMAN
    Recommended name:
    Thioredoxin, mitochondrial
    Protein Accession:
    Q99757
    Secondary Accessions:
    • Q5JZA0
    • Q6FH60
    • Q9UH29

    Protein attributes for TXN2 Gene

    Size:
    166 amino acids
    Molecular mass:
    18383 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for TXN2 Gene

neXtProt entry for TXN2 Gene

Post-translational modifications for TXN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TXN2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TXN2 (TXN2)

No data available for DME Specific Peptides for TXN2 Gene

Domains & Families for TXN2 Gene

Suggested Antigen Peptide Sequences for TXN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99757

UniProtKB/Swiss-Prot:

THIOM_HUMAN :
  • Belongs to the thioredoxin family.
Family:
  • Belongs to the thioredoxin family.
genes like me logo Genes that share domains with TXN2: view

No data available for Gene Families for TXN2 Gene

Function for TXN2 Gene

Molecular function for TXN2 Gene

UniProtKB/Swiss-Prot Function:
Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Possesses a dithiol-reducing activity.

Gene Ontology (GO) - Molecular Function for TXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21988832
GO:0008113 peptide-methionine (S)-S-oxide reductase activity IEA --
GO:0015035 protein disulfide oxidoreductase activity IEA --
GO:0032403 protein complex binding IEA --
GO:0033743 peptide-methionine (R)-S-oxide reductase activity IEA --
genes like me logo Genes that share ontologies with TXN2: view
genes like me logo Genes that share phenotypes with TXN2: view

Animal Models for TXN2 Gene

MGI Knock Outs for TXN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for TXN2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TXN2 Gene

Localization for TXN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TXN2 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 TXN2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA 12032145
GO:0005759 mitochondrial matrix TAS --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with TXN2: view

Pathways & Interactions for TXN2 Gene

genes like me logo Genes that share pathways with TXN2: view

Pathways by source for TXN2 Gene

1 Cell Signaling Technology pathway for TXN2 Gene
1 BioSystems pathway for TXN2 Gene

Gene Ontology (GO) - Biological Process for TXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006662 glycerol ether metabolic process IEA --
GO:0006979 response to oxidative stress IEA --
GO:0007584 response to nutrient IEA --
GO:0009725 response to hormone IEA --
genes like me logo Genes that share ontologies with TXN2: view

No data available for SIGNOR curated interactions for TXN2 Gene

Drugs & Compounds for TXN2 Gene

(12) Drugs for TXN2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for TXN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TXN2: view

Transcripts for TXN2 Gene

Unigene Clusters for TXN2 Gene

Thioredoxin 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TXN2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: - -
SP2: - - -
SP3: - - - -
SP4: -
SP5:
SP6: - - -
SP7: - -

Relevant External Links for TXN2 Gene

GeneLoc Exon Structure for
TXN2
ECgene alternative splicing isoforms for
TXN2

Expression for TXN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TXN2 Gene

Protein differential expression in normal tissues from HIPED for TXN2 Gene

This gene is overexpressed in Testis (11.4) and Peripheral blood mononuclear cells (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TXN2 Gene



Protein tissue co-expression partners for TXN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TXN2 Gene:

TXN2

SOURCE GeneReport for Unigene cluster for TXN2 Gene:

Hs.211929

mRNA Expression by UniProt/SwissProt for TXN2 Gene:

Q99757-THIOM_HUMAN
Tissue specificity: Widely expressed in adult (at protein level) and fetal tissues.

Evidence on tissue expression from TISSUES for TXN2 Gene

  • Liver(4.5)
  • Eye(4.4)
  • Pancreas(4.3)
  • Muscle(3.2)
  • Nervous system(3.2)
  • Heart(2.9)
  • Kidney(2.5)
genes like me logo Genes that share expression patterns with TXN2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TXN2 Gene

Orthologs for TXN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TXN2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia TXN2 34 35
  • 89.37 (n)
cow
(Bos Taurus)
Mammalia TXN2 34 35
  • 88.55 (n)
mouse
(Mus musculus)
Mammalia Txn2 34 16 35
  • 85.94 (n)
rat
(Rattus norvegicus)
Mammalia Txn2 34
  • 85.14 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 77 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TXN2 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves TXN2 34 35
  • 71.89 (n)
lizard
(Anolis carolinensis)
Reptilia TXN2 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia txn2 34
  • 67.96 (n)
Str.6528 34
African clawed frog
(Xenopus laevis)
Amphibia txn2-prov 34
zebrafish
(Danio rerio)
Actinopterygii txn2 34 35
  • 63.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8993 34 35
  • 60.67 (n)
CG8517 35
  • 38 (a)
OneToMany
CG3719 35
  • 34 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta TRX2 34
  • 54.99 (n)
worm
(Caenorhabditis elegans)
Secernentea trx-2 34 35
  • 52.11 (n)
Species where no ortholog for TXN2 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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 TXN2 Gene

ENSEMBL:
Gene Tree for TXN2 (if available)
TreeFam:
Gene Tree for TXN2 (if available)

Paralogs for TXN2 Gene

(1) SIMAP similar genes for TXN2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for TXN2 Gene

genes like me logo Genes that share paralogs with TXN2: view

No data available for Paralogs for TXN2 Gene

Variants for TXN2 Gene

Sequence variations from dbSNP and Humsavar for TXN2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs754022333 Pathogenic 36,480,767(+) GTGGC(C/T)ACTGA reference, stop-gained
rs1000063530 -- 36,467,152(+) ACTTC(C/T)GGAGT utr-variant-3-prime
rs1000368438 -- 36,481,666(+) TCACT(A/T)CCGGG upstream-variant-2KB, utr-variant-5-prime
rs1000409885 -- 36,476,303(+) CTCTC(A/G)AAAAA intron-variant
rs1000422301 -- 36,481,856(+) CACCA(C/T)GCCCA upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TXN2 Gene

Variant ID Type Subtype PubMed ID
esv2663104 CNV deletion 23128226
esv2760722 CNV gain 21179565
esv3647686 CNV loss 21293372
nsv1060004 CNV gain 25217958
nsv520497 CNV gain 19592680
nsv834186 CNV loss 17160897

Variation tolerance for TXN2 Gene

Residual Variation Intolerance Score: 41.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.37; 8.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TXN2 Gene

Human Gene Mutation Database (HGMD)
TXN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TXN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TXN2 Gene

Disorders for TXN2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TXN2 Gene - From: ClinVar and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TXN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

THIOM_HUMAN
  • Combined oxidative phosphorylation deficiency 29 (COXPD29) [MIM:616811]: An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy. {ECO:0000269 PubMed:26626369}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TXN2

Genetic Association Database (GAD)
TXN2
Human Genome Epidemiology (HuGE) Navigator
TXN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TXN2
genes like me logo Genes that share disorders with TXN2: view

No data available for Genatlas for TXN2 Gene

Publications for TXN2 Gene

  1. Genetic polymorphisms in the thioredoxin 2 (TXN2) gene and risk for spina bifida. (PMID: 19165900) Wen S. … Finnell R.H. (Am. J. Med. Genet. A 2009) 3 22 46 64
  2. Thioredoxin 1 and thioredoxin 2 have opposed regulatory functions on hypoxia-inducible factor-1alpha. (PMID: 17220299) Zhou J. … BrA1ne B. (J. Biol. Chem. 2007) 2 3 22 64
  3. Overexpressed human mitochondrial thioredoxin confers resistance to oxidant-induced apoptosis in human osteosarcoma cells. (PMID: 12032145) Chen Y. … Jones D.P. (J. Biol. Chem. 2002) 3 4 22 64
  4. Human mitochondrial thioredoxin. Involvement in mitochondrial membrane potential and cell death. (PMID: 12080052) Damdimopoulos A.E. … Spyrou G. (J. Biol. Chem. 2002) 3 4 22 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for TXN2 Gene

Sources for TXN2 Gene

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