GLRX2

Glutaredoxin 2, a mitochondrial redox enzyme involved in oxidative stress response and apoptosis regulation

Gene Information Card

Symbol GLRX2
Full Name Glutaredoxin 2
Gene Type Protein coding
Chromosomal Location 1q31.2
NCBI Gene ID 51022 ncbi.nlm.nih.gov/gene/51022
Ensembl ID ENSG00000143933
UniProt ID Q9NS18
OMIM ID 609543
HGNC ID 4332
Aliases GRX2, GLRX2a, GLRX2b

Description

GLRX2 encodes glutaredoxin 2, a mitochondrial thiol-disulfide oxidoreductase that catalyzes the reduction of protein disulfides and glutathione-mixed disulfides. It plays a key role in maintaining mitochondrial redox homeostasis, protecting against oxidative stress, and regulating apoptosis. The gene produces two isoforms via alternative splicing.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cardiovascular disease GLRX2 deficiency increases mitochondrial oxidative stress, leading to cardiomyocyte apoptosis PMID: 21880726
Neurodegenerative disorders Impaired glutaredoxin 2 activity contributes to mitochondrial dysfunction in Parkinson's and Alzheimer's disease PMID: 25645921
Cancer Altered GLRX2 expression affects tumor cell resistance to oxidative stress and chemotherapy PMID: 29127120

Expression Profile

Tissue Expression
Tissue nTPM level
Heart 12.5 Medium
Liver 8.3 Low
Kidney 10.1 Medium
Brain 6.7 Low
Skeletal muscle 9.4 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 15.2 High expression
HeLa 11.8 Medium expression
HepG2 9.5 Low expression
SH-SY5Y 7.3 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.292C>T (p.Arg98Trp) Missense <0.01% Reduced catalytic activity; associated with oxidative stress sensitivity
c.418G>A (p.Gly140Ser) Missense <0.01% Impaired mitochondrial localization
Mutation functional classification

Loss of Function (LOF)

Missense variants (e.g., p.Arg98Trp) reduce enzymatic activity, compromising mitochondrial redox balance.

Gain of Function (GOF)

No gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Pathways

• Glutathione metabolism (Reactome: R-HSA-174403)
• Oxidative stress response (KEGG: hsa04213)

Protein Summary

Glutaredoxin 2 is a 164-amino acid mitochondrial protein (UniProt Q9NS18) containing a conserved Cys-Pro-Tyr-Cys active site. It reduces glutathionylated proteins and maintains mitochondrial thiol status, protecting cells from oxidative damage. The protein is essential for mitochondrial function and apoptosis regulation.

Related Products

Product name Cat.No. Species Gene ID
GLRX2 Knockout HEK293 Cell Line EDJ-KQ2501 Human 51022 Details Get a Quote
GLRX2 Knockout A-549 Cell Line EDJ-KQ23093 Human 51022 Details Get a Quote
GLRX2 Knockout HCT 116 Cell Line EDJ-KQ23094 Human 51022 Details Get a Quote
GLRX2 Knockout HeLa Cell Line EDJ-KQ23095 Human 51022 Details Get a Quote
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