Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25828
Gene name Gene Name - the full gene name approved by the HGNC.
Thioredoxin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TXN2
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD29, MT-TRX, MTRX, TRX2, TXN
Disease Acronyms (UniProt) Disease acronyms from UniProt database
COXPD29
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.3
Summary Summary of gene provided in NCBI Entrez 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 ag
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs754022333 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
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 factor Regulation Reference
RUNX3 Repression 17956589
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000098 Process Sulfur amino acid catabolic process TAS
GO:0001666 Process Response to hypoxia IEA
GO:0005515 Function Protein binding IPI 21988832, 25416956, 31515488, 32296183, 32814053
GO:0005730 Component Nucleolus IDA
GO:0005739 Component Mitochondrion IDA 12032145
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609063 17772 ENSG00000100348
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Combined oxidative phosphorylation deficiency COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, Combined oxidative phosphorylation defect type 29 rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517
View all (155 more)
26626369
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Dysautonomia Dysautonomia rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086
View all (27 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation defect type 29, combined oxidative phosphorylation deficiency 29 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acantholysis Associate 33763469
Alzheimer Disease Stimulate 26687188
Blister Associate 33763469
Breast Neoplasms Associate 19566940, 37923090
Carcinoma Hepatocellular Associate 25004829
Diabetic Nephropathies Associate 40076459
Drug Related Side Effects and Adverse Reactions Associate 18447393
Endometriosis Associate 32679649
Glioblastoma Associate 34047676
Hypoglycemia Associate 32839348