Free for academic non-profit institutions. Other users need a Commercial license

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 Deficiency 29 and Ocular Hypertension. Among its related pathways are Detoxification of Reactive Oxygen Species and Toll-like receptor signaling pathway. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for TXN2 Gene

Promoters and enhancers for TXN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I036478 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 557.4 +1.5 1494 4.6 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 TXN2 FOXRED2 RBFOX2 IFT27 EIF3D LOC105373018
GH22I036348 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.5 +113.2 113210 40.9 MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 MYH9 RBFOX2 FOXRED2 TXN2 ENSG00000252225 IFT27 LOC105377199 APOL3 EIF3D ENSG00000228719
GH22I036321 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +148.4 148447 24.5 HDGF PKNOX1 FOXA2 ARNT MLX ARID4B NEUROD1 SIN3A DMAP1 ZNF2 IFT27 TXN2 ENSG00000252225 EIF3D APOL3 GC22M036334 GC22P036326 GC22P036321 MYH9
GH22I036457 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +16.7 16729 15.7 HDGF PKNOX1 ARID4B NEUROD1 SIN3A YY1 ZNF207 ZNF143 ZNF548 FOS FOXRED2 ENSG00000252225 RPS15AP38 TXN2 ENSG00000228719 EIF3D MYH9 PIR55944 LOC105373018
GH22I036504 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 6.2 -24.2 -24243 3.2 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B ZNF213 FOXRED2 EIF3D IFT27 TXN2 LOC105373019
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TXN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TXN2 gene promoter:

Genomic Locations for TXN2 Gene

Genomic Locations for TXN2 Gene
chr22:36,467,036-36,482,030
(GRCh38/hg38)
Size:
14,995 bases
Orientation:
Minus strand
chr22:36,863,083-36,878,077
(GRCh37/hg19)

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

No data available for DME Specific Peptides for TXN2 Gene

Domains & Families for TXN2 Gene

Gene Families for TXN2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for TXN2 Gene

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

Human Phenotype Ontology for TXN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TXN2 Gene

MGI Knock Outs for TXN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for TXN2

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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

Subcellular locations from the

Human Protein Atlas (HPA)

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,IEA 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 BioSystems pathway for TXN2 Gene
1 Cell Signaling Technology 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:

CRISPR Products

Inhibitory RNA 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(3.3)
  • Nervous system(3.2)
  • Heart(2.9)
  • Kidney(2.5)
genes like me logo Genes that share expression patterns with TXN2: view

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 33 34
  • 89.37 (n)
cow
(Bos Taurus)
Mammalia TXN2 33 34
  • 88.55 (n)
mouse
(Mus musculus)
Mammalia Txn2 33 16 34
  • 85.94 (n)
rat
(Rattus norvegicus)
Mammalia Txn2 33
  • 85.14 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 77 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TXN2 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves TXN2 33 34
  • 71.89 (n)
lizard
(Anolis carolinensis)
Reptilia TXN2 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia txn2 33
  • 67.96 (n)
Str.6528 33
African clawed frog
(Xenopus laevis)
Amphibia txn2-prov 33
zebrafish
(Danio rerio)
Actinopterygii txn2 33 34
  • 63.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8993 33 34
  • 60.67 (n)
CG8517 34
  • 38 (a)
OneToMany
CG3719 34
  • 34 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta TRX2 33
  • 54.99 (n)
worm
(Caenorhabditis elegans)
Secernentea trx-2 33 34
  • 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 Variation AA Info Type
rs754022333 pathogenic, Combined oxidative phosphorylation deficiency 29 36,480,767(-) C/T coding_sequence_variant, stop_gained
rs534944987 uncertain-significance, not provided 36,480,803(-) G/A/C coding_sequence_variant, missense_variant
rs1000063530 -- 36,467,152(-) C/T 3_prime_UTR_variant
rs1000368438 -- 36,481,666(-) T/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000409885 -- 36,476,303(-) G/A intron_variant

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)

Additional Variant Information for TXN2 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, Orphanet, 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.

Additional Disease Information for TXN2

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 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 RH (American journal of medical genetics. Part A 2009) 3 22 44 58
  2. Thioredoxin 1 and thioredoxin 2 have opposed regulatory functions on hypoxia-inducible factor-1alpha. (PMID: 17220299) Zhou J … Brüne B (The Journal of biological chemistry 2007) 2 3 22 58
  3. Overexpressed human mitochondrial thioredoxin confers resistance to oxidant-induced apoptosis in human osteosarcoma cells. (PMID: 12032145) Chen Y … Jones DP (The Journal of biological chemistry 2002) 3 4 22 58
  4. Human mitochondrial thioredoxin. Involvement in mitochondrial membrane potential and cell death. (PMID: 12080052) Damdimopoulos AE … Spyrou G (The Journal of biological chemistry 2002) 3 4 22 58
  5. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 44 58

Products for TXN2 Gene

Sources for TXN2 Gene

Content
Loading form....