Entity Details

Primary name TRXR2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NNW7
EntryNameTRXR2_HUMAN
FullNameThioredoxin reductase 2, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length524
SequenceStatuscomplete
DateCreated2003-09-19
DateModified2021-06-02

Ontological Relatives

GenesTXNRD2

GO terms

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GOName
GO:0000305 response to oxygen radical
GO:0004791 thioredoxin-disulfide reductase activity
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0034599 cellular response to oxidative stress
GO:0043231 intracellular membrane-bounded organelle
GO:0045454 cell redox homeostasis
GO:0050660 flavin adenine dinucleotide binding

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR001100 Pyridine nucleotide-disulphide oxidoreductase, class IFamilyFamily
IPR004099 Pyridine nucleotide-disulphide oxidoreductase, dimerisation domainDomainDomain
IPR006338 Thioredoxin/glutathione reductase selenoproteinFamilyFamily
IPR012999 Pyridine nucleotide-disulphide oxidoreductase, class I, active siteSiteActive site
IPR016156 FAD/NAD-linked reductase, dimerisation domain superfamilyFamilyHomologous superfamily
IPR023753 FAD/NAD(P)-binding domainDomainDomain
IPR036188 FAD/NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617825 OMIMGlucocorticoid deficiency 5 (GCCD5)A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. The disease may be caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB05428 Motexafin gadoliniumDrugbanksmall molecule