ENSG00000184470


Homo sapiens

Features
Gene ID: ENSG00000184470
  
Biological name :TXNRD2
  
Synonyms : Q9NNW7 / thioredoxin reductase 2 / TXNRD2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: -1
Band: q11.21
Gene start: 19875517
Gene end: 19941992
  
Corresponding Affymetrix probe sets: 210803_at (Human Genome U133 Plus 2.0 Array)   211177_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000334451
Ensembl peptide - ENSP00000489208
Ensembl peptide - ENSP00000485665
Ensembl peptide - ENSP00000485603
Ensembl peptide - ENSP00000485543
Ensembl peptide - ENSP00000485499
Ensembl peptide - ENSP00000485466
Ensembl peptide - ENSP00000485290
Ensembl peptide - ENSP00000485128
Ensembl peptide - ENSP00000383369
Ensembl peptide - ENSP00000383365
Ensembl peptide - ENSP00000383363
Ensembl peptide - ENSP00000383362
NCBI entrez gene - 10587     See in Manteia.
OMIM - 606448
RefSeq - NM_001352300
RefSeq - NM_001352301
RefSeq - NM_001352302
RefSeq - NM_006440
RefSeq - NM_001282512
RefSeq Peptide - NP_001339229
RefSeq Peptide - NP_001339230
RefSeq Peptide - NP_001339231
RefSeq Peptide - NP_006431
RefSeq Peptide - NP_001269441
swissprot - E7EWK1
swissprot - Q9NNW7
swissprot - D3YTF8
swissprot - A0A182DWF3
swissprot - A0A182DWF2
swissprot - A0A0U1RQX0
swissprot - A0A096LPK7
swissprot - A0A096LPH4
swissprot - A0A096LPD9
swissprot - A0A096LPB7
swissprot - A0A096LP96
swissprot - A0A096LNY7
Ensembl - ENSG00000184470
  
Related genetic diseases (OMIM): 617825 - ?Glucocorticoid deficiency 5, 617825
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 txnrd2.1ENSDARG00000094470Danio rerio
 txnrd2.2ENSDARG00000075923Danio rerio
 TXNRD2ENSGALG00000001988Gallus gallus
 Txnrd2ENSMUSG00000075704Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q86VQ6 / TXNRD3 / thioredoxin reductase 3ENSG0000019776353
Q16881 / TXNRD1 / thioredoxin reductase 1ENSG0000019843153
GSR / P00390 / glutathione-disulfide reductaseENSG0000010468736


Protein motifs (from Interpro)
Interpro ID Name
 IPR001100  Pyridine nucleotide-disulphide oxidoreductase, class I
 IPR004099  Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
 IPR006338  Thioredoxin/glutathione reductase selenoprotein
 IPR012999  Pyridine nucleotide-disulphide oxidoreductase, class I, active site
 IPR016156  FAD/NAD-linked reductase, dimerisation domain superfamily
 IPR023753  FAD/NAD(P)-binding domain
 IPR036188  FAD/NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000305 response to oxygen radical TAS
 biological_processGO:0022900 electron transport chain IEA
 biological_processGO:0034599 cellular response to oxidative stress TAS
 biological_processGO:0045454 cell redox homeostasis IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0098869 cellular oxidant detoxification IEA
 cellular_componentGO:0005623 cell IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0004791 thioredoxin-disulfide reductase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0009055 electron transfer activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016668 oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor IEA
 molecular_functionGO:0050660 flavin adenine dinucleotide binding IEA


Pathways (from Reactome)
Pathway description
Detoxification of Reactive Oxygen Species


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000982 Palmoplantar keratoderma 
Show

 HP:0001644 Dilated cardiomyopathy 
Show

 HP:0001874 Abnormality of neutrophil 
Show

 HP:0003198 Myopathy 
Show

 HP:0003236 Elevated serum creatine phosphokinase 
Show

 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
Show

 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000184470 Q9NNW7 / TXNRD2 / thioredoxin reductase 2  / complex
 ENSG00000100348 TXN2 / Q99757 / thioredoxin 2  / reaction






 

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