TXN2 thioredoxin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TXN2provided by HGNC
Official Full Name: thioredoxin 2provided by HGNC
Primary source: HGNC:HGNC:17772
See related: Ensembl:ENSG00000100348 MIM:609063; AllianceGenome:HGNC:17772
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TXN; MTRX; TRX2; MT-TRX; COXPD29
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 against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 39.7), kidney (RPKM 28.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (36467046..36481640, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (36927219..36941813, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (36863093..36877687, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

scAAV2-Mediated Expression of Thioredoxin 2 and C3 Transferase Prevents Retinal Ganglion Cell Death and Lowers Intraocular Pressure in a Mouse Model of Glaucoma.
Title: scAAV2-Mediated Expression of Thioredoxin 2 and C3 Transferase Prevents Retinal Ganglion Cell Death and Lowers Intraocular Pressure in a Mouse Model of Glaucoma.
Association between genetic variants in oxidative stress-related genes and osteoporotic bone fracture. The Hortega follow-up study.
Title: Association between genetic variants in oxidative stress-related genes and osteoporotic bone fracture. The Hortega follow-up study.
Mitochondrial TXN2 attenuates amyloidogenesis via selective inhibition of BACE1 expression.
Title: Mitochondrial TXN2 attenuates amyloidogenesis via selective inhibition of BACE1 expression.
Mechanisms of Trx2/ASK1-Mediated Mitochondrial Injury in Pemphigus Vulgaris.
Title: Mechanisms of Trx2/ASK1-Mediated Mitochondrial Injury in Pemphigus Vulgaris.
Thioredoxin 2 Negatively Regulates Innate Immunity to RNA Viruses by Disrupting the Assembly of the Virus-Induced Signaling Adaptor Complex.
Title: Thioredoxin 2 Negatively Regulates Innate Immunity to RNA Viruses by Disrupting the Assembly of the Virus-Induced Signaling Adaptor Complex.
Overexpression of mitochondrial Trx2 attenuates the intracellular ROS accumulation and ATP production. Most interestingly, mitochondrial Trx2 may be involved in the cardiac hypertrophy signaling of diabetes.
Title: Thioredoxin 2 Offers Protection against Mitochondrial Oxidative Stress in H9c2 Cells and against Myocardial Hypertrophy Induced by Hyperglycemia.
Prx3 and Trx2 comprise an adaptive system to sense changes in atmospheric oxygen tension and influence cellular injury responses through both detoxification of mitochondrial oxidants and regulation of mitochondrial redox-dependent signaling
Title: Detoxification of Mitochondrial Oxidants and Apoptotic Signaling Are Facilitated by Thioredoxin-2 and Peroxiredoxin-3 during Hyperoxic Injury.
Trx2 overexpression failed to attenuate hypoxia-induced human pulmonary arterial smooth muscle cells proliferation in vitro or hypoxia-induced Pulmonary hypertension in vivo.
Title: Hypoxia inhibits expression and function of mitochondrial thioredoxin 2 to promote pulmonary hypertension.
study demonstrated that miR-27a and -b, which are widely expressed in host cells, suppress SNAP25 and TXN2 expression through posttranscriptional gene silencing.
Title: MicroRNA miR-27 Inhibits Adenovirus Infection by Suppressing the Expression of SNAP25 and TXN2.
No evidence that SNPs in TRX2 have effects, but the rs4485648 polymorphism of the TrxR2 gene might exert an independent effect on the development of Diabetic retinopathy.
Title: Single nucleotide polymorphisms in the Trx2/TXNIP and TrxR2 genes of the mitochondrial thioredoxin antioxidant system and the risk of diabetic retinopathy in patients with Type 2 diabetes mellitus.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined oxidative phosphorylation deficiency 29 MedGen: C5567607 OMIM: 616811 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68054 (e-PCR)
- UniSTS:47375

D8S2279 (e-PCR)
- UniSTS:473907

TXN2_1115 (e-PCR)
- UniSTS:277848

RH75085 (e-PCR)
- UniSTS:91744

PMC193924P2 (e-PCR)
- UniSTS:271764

RH70707 (e-PCR)
- UniSTS:13005

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables peptide-methionine (R)-S-oxide reductase activity	IEA Inferred from Electronic Annotation more info
enables peptide-methionine (S)-S-oxide reductase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-disulfide reductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell redox homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to nutrient levels	IEA Inferred from Electronic Annotation more info
involved_in response to axon injury	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	IEA Inferred from Electronic Annotation more info
involved_in response to hormone	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: thioredoxin, mitochondrial

Names: mitochondrial thioredoxin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046718.1 RefSeqGene

Range

5001..19595

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_012473.4 → NP_036605.2 thioredoxin, mitochondrial precursor

See identical proteins and their annotated locations for NP_036605.2

Status: REVIEWED

Source sequence(s)

AL022313

Consensus CDS

CCDS13928.1

UniProtKB/Swiss-Prot

Q5JZA0, Q6FH60, Q99757, Q9UH29

UniProtKB/TrEMBL

B4DX69

Related

ENSP00000216185.2, ENST00000216185.7

Conserved Domains (1) summary

cd02947
Location:72 → 162

TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

36467046..36481640 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724226.2 → XP_006724289.1 thioredoxin, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_006724289.1

UniProtKB/Swiss-Prot

Q5JZA0, Q6FH60, Q99757, Q9UH29

UniProtKB/TrEMBL

B4DX69

Related

ENSP00000385393.1, ENST00000403313.5

Conserved Domains (1) summary

cd02947
Location:72 → 162

TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...