Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
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

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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

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
MIRT495536	hsa-miR-4419b	PAR-CLIP	22291592
MIRT495535	hsa-miR-4478	PAR-CLIP	22291592
MIRT495534	hsa-miR-6765-3p	PAR-CLIP	22291592
MIRT495533	hsa-miR-619-5p	PAR-CLIP	22291592
MIRT495532	hsa-miR-6506-5p	PAR-CLIP	22291592
MIRT495531	hsa-miR-5191	PAR-CLIP	22291592
MIRT495530	hsa-miR-6762-3p	PAR-CLIP	22291592
MIRT005748	hsa-miR-17-3p	qRT-PCR, Western blot	27505139
MIRT495538	hsa-miR-7851-3p	PAR-CLIP	22291592
MIRT495537	hsa-miR-3929	PAR-CLIP	22291592
MIRT495536	hsa-miR-4419b	PAR-CLIP	22291592
MIRT495535	hsa-miR-4478	PAR-CLIP	22291592
MIRT495534	hsa-miR-6765-3p	PAR-CLIP	22291592
MIRT495533	hsa-miR-619-5p	PAR-CLIP	22291592
MIRT495532	hsa-miR-6506-5p	PAR-CLIP	22291592
MIRT495531	hsa-miR-5191	PAR-CLIP	22291592
MIRT495530	hsa-miR-6762-3p	PAR-CLIP	22291592
MIRT1465591	hsa-miR-1343	CLIP-seq
MIRT1465592	hsa-miR-151-5p	CLIP-seq
MIRT1465593	hsa-miR-151b	CLIP-seq
MIRT1465594	hsa-miR-193a-5p	CLIP-seq
MIRT1465595	hsa-miR-3176	CLIP-seq
MIRT1465596	hsa-miR-3922-3p	CLIP-seq
MIRT1465597	hsa-miR-4757-5p	CLIP-seq
MIRT1465598	hsa-miR-4793-5p	CLIP-seq
MIRT2139950	hsa-miR-1909	CLIP-seq
MIRT2139951	hsa-miR-3692	CLIP-seq
MIRT2139952	hsa-miR-4464	CLIP-seq
MIRT2139953	hsa-miR-4748	CLIP-seq
MIRT2396550	hsa-miR-146b-3p	CLIP-seq
MIRT2396551	hsa-miR-3173-5p	CLIP-seq
MIRT2396552	hsa-miR-874	CLIP-seq

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000305	Process	Response to oxygen radical	TAS	10455115
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	IBA
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	IEA
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	ISS
GO:0004791	Function	Thioredoxin-disulfide reductase (NADPH) activity	TAS	9923614
GO:0005515	Function	Protein binding	IPI	20413580
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	10215850
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0010269	Process	Response to selenium ion	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016668	Function	Oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045454	Process	Cell redox homeostasis	IBA
GO:0045454	Process	Cell redox homeostasis	IEA
GO:0045454	Process	Cell redox homeostasis	IMP	24601690
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0055093	Process	Response to hyperoxia	IEA
GO:0098869	Process	Cellular oxidant detoxification	IEA

MIM	HGNC	e!Ensembl
606448	18155	ENSG00000184470

Protein

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

MAAMAVALRGLGGRFRWRTQAVAGGVRGAARGAAAGQRDYDLLVVGGGSGGLACAKEAAQ
LGRKVAVVDYVEPSPQGTRWGLGGTCVNVGCIPKKLMHQAALLGGLIQDAPNYGWEVAQP
VPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASFVDEHTVCGVAKGGKEILLS
ADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGI
GLDTTIMMRSIPLRGFDQQMSSMVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDST
TGKEDTGTFDTVLWAIGRVPDTRSLNLEKAGVDTSPDTQKILVDSREATSVPHIYAIGDV
VEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVFTPLEYGCVGLSEEEAVARHG
QEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALG
IKCGASYAQVMRTVGIHPTCSEEVVKLRISKRSGLDPTVTGCUG

Sequence length

524

Interactions

View interactions

	KEGG		Reactome
	Selenocompound metabolism Pathways in cancer Hepatocellular carcinoma		Detoxification of Reactive Oxygen Species

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Dilated Cardiomyopathy	familial isolated dilated cardiomyopathy	N/A	N/A	GenCC
Ependymoma	ependymoma	N/A	N/A	ClinVar
Glaucoma	Glaucoma	N/A	N/A	GWAS
Glucocorticoid Deficiency	familial glucocorticoid deficiency, glucocorticoid deficiency 5	N/A	N/A	GenCC
Hypertrophic Cardiomyopathy	Primary familial hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Myopathy	dilated cardiomyopathy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Hyperoxia	Stimulate	28045936
Kashin Beck Disease	Associate	24058403
Lung Neoplasms	Associate	33332541
Lymphoma	Associate	18422776
Penis agenesis	Associate	38011841
Personality Disorders	Associate	26847995
Prostatic Neoplasms	Associate	21716162, 23133653, 25284284, 26847995, 27197287
Rectal Neoplasms	Associate	22615972

TXNRD2 (thioredoxin reductase 2)