Gene Gene information from NCBI Gene database.
Entrez ID 25828
Gene name Thioredoxin 2
Gene symbol TXN2
Synonyms (NCBI Gene)
COXPD29MT-TRXMTRXTRX2TXN
Chromosome 22
Chromosome location 22q12.3
Summary 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 ag
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs754022333 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
351
miRTarBase ID miRNA Experiments Reference
MIRT001402 hsa-miR-16-5p pSILAC 18668040
MIRT001402 hsa-miR-16-5p Proteomics;Other 18668040
MIRT044903 hsa-miR-186-5p CLASH 23622248
MIRT039307 hsa-miR-425-5p CLASH 23622248
MIRT038474 hsa-miR-296-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
RUNX3 Repression 17956589
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21988832, 25416956, 31515488, 32296183, 32814053
GO:0005730 Component Nucleolus IDA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 12032145
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609063 17772 ENSG00000100348
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99757
Protein name Thioredoxin, mitochondrial (MTRX) (Mt-Trx) (Thioredoxin-2)
Protein function Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability (PubMed:12032145, PubMed:12080052, PubMed:26626369) Is involved in various redox reactions including the reduction of protein
PDB 1UVZ , 1W4V , 1W89
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 61 163 Thioredoxin Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in adult (at protein level) and fetal tissues. {ECO:0000269|PubMed:12032145, ECO:0000269|PubMed:12080052}.
Sequence
Sequence length 166
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  NOD-like receptor signaling pathway
Parkinson disease
Salmonella infection
Fluid shear stress and atherosclerosis
  Degradation of cysteine and homocysteine
Detoxification of Reactive Oxygen Species
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined oxidative phosphorylation deficiency 29 Pathogenic rs754022333 RCV000207474
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 29 Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 24092547
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 31029641
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 31352431
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 28270496
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30944623, 31197039
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 26325518
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 28866748
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 31352431
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 22447839, 28402987
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 10666220, 11228744, 22068231, 29138681, 2999237, 8639174, 9475178
★☆☆☆☆
Found in Text Mining only