TXNRD2 (thioredoxin reductase 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10587
Gene name Gene Name - the full gene name approved by the HGNC.
Thioredoxin reductase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TXNRD2
Synonyms (NCBI Gene) Gene synonyms aliases
GCCD5, SELZ, TR, TR-BETA, TR3, TRXR2, TXNR2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GCCD5
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez 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 fla
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs200606822 T>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs202059967 A>C,G Uncertain-significance, likely-benign, likely-pathogenic Stop gained, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(37)
miRTarBase ID miRNA Experiments Reference
MIRT005748 hsa-miR-17-3p Luciferase reporter assay, Quantitative proteomic approach, Western blot 21203553
MIRT044324 hsa-miR-106b-5p CLASH 23622248
MIRT039271 hsa-miR-671-5p CLASH 23622248
MIRT495538 hsa-miR-7851-3p PAR-CLIP 22291592
MIRT495537 hsa-miR-3929 PAR-CLIP 22291592
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0000305 Process Response to oxygen radical TAS 10455115
GO:0004791 Function Thioredoxin-disulfide reductase activity IBA 21873635
GO:0004791 Function Thioredoxin-disulfide reductase activity ISS
GO:0005515 Function Protein binding IPI 20413580
GO:0005737 Component Cytoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606448 18155 ENSG00000184470
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NNW7
Protein name Thioredoxin reductase 2, mitochondrial (EC 1.8.1.9) (Selenoprotein Z) (SelZ) (TR-beta) (Thioredoxin reductase TR3)
Protein 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. {ECO:0000250|UniProtK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07992 Pyr_redox_2 40 → 375 Pyridine nucleotide-disulphide oxidoreductase Domain
PF02852 Pyr_redox_dim 395 → 508 Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain Domain
Tissue specificity 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. Accor
Sequence
Sequence length 524
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Selenocompound metabolism
Pathways in cancer
Hepatocellular carcinoma 		  Detoxification of Reactive Oxygen Species
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (16)
Causal
Disease term Disease name dbSNP ID References
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Cardiomyopathy Cardiomyopathy, Dilated, Familial dilated cardiomyopathy rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)		 21247928
Congenital hypothyroidism Congenital Hypothyroidism rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Dilated Cardiomyopathy familial isolated dilated cardiomyopathy GenCC
Glucocorticoid Deficiency familial glucocorticoid deficiency, glucocorticoid deficiency 5 GenCC
Show/Hide Text Mining Associations (18)
Associations from Text Mining
Disease Name Relationship Type References
22q11 Deletion Syndrome Associate 31220439
Breast Neoplasms Associate 16868544, 20003265, 33885357
Colorectal Neoplasms Associate 22615972
Cryptorchidism Associate 38011841
Diabetes Gestational Associate 38093364
Diabetic Nephropathies Associate 34545296
DiGeorge Syndrome Associate 26221035
Familial Glucocorticoid Deficiency 1 Associate 38011841
Fibrosis Associate 23597419
Glaucoma Open Angle Associate 30317457, 32476818, 33726755