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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TREX2
three prime repair exonuclease 2
Chromosome X · Xq28
NCBI Gene: 11219Ensembl: ENSG00000183479.14HGNC: HGNC:12270UniProt: Q9BQ50
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
magnesium ion bindingDNA bindingprotein binding3'-5'-DNA exonuclease activityIntellectual disabilityneoplasmdermatitis herpetiformis, familialpruritus, hereditary localized
✦AI Summary

TREX2 (three prime repair exonuclease 2) is a 3'-5' DNA exonuclease that plays critical roles in DNA repair, genomic stability, and cellular proliferation. The enzyme preferentially processes double-stranded DNA with mismatched 3' termini and functions as part of the DNA damage tolerance pathway by stabilizing replication forks through PCNA ubiquitination alongside RAD18 1. TREX2 prevents cytosolic DNA accumulation, thereby suppressing cGAS/STING pathway activation, which is crucial for immune surveillance 2. The protein's expression is epigenetically regulated through DNA methylation at an intragenic enhancer region, with methylation loss correlating with increased TREX2 expression and improved survival in laryngeal cancer patients 3. Paradoxically, TREX2 contributes significantly to spontaneous mutagenesis, particularly in mismatch repair-deficient cells, where its deletion substantially reduces mutation rates 1. TREX2 deficiency causes genomic instability including Robertsonian translocations and reduced cellular proliferation 4. Clinically, cisplatin chemotherapy depletes TREX2 levels, contributing to its cytotoxic effects beyond DNA cross-link formation 4. The enzyme can be co-expressed with other exonucleases to mitigate mitochondrial DNA transfer to nuclear genomes during genome editing procedures 5.

Sources cited
1
TREX2 is part of DNA damage tolerance pathway, stabilizes replication forks via PCNA ubiquitination, and generates spontaneous mutations in MMR-mutant cells
PMID: 38175749
2
TREX2 prevents cytosolic dsDNA accumulation and suppresses cGAS/STING activation for tumor maintenance
PMID: 37586363
3
TREX2 expression is regulated by DNA methylation at an intragenic enhancer, with methylation loss improving laryngeal cancer survival
PMID: 31053176
4
TREX2 deficiency causes Robertsonian translocations and reduced proliferation; cisplatin depletes TREX2 contributing to cytotoxicity
PMID: 17909011
5
TREX2 can be co-expressed to mitigate mitochondrial DNA transfer during genome editing
PMID: 39487167
Disease Associationsⓘ20
Intellectual disabilityOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
dermatitis herpetiformis, familialOpen Targets
0.07Suggestive
pruritus, hereditary localizedOpen Targets
0.07Suggestive
disseminated superficial actinic porokeratosisOpen Targets
0.05Suggestive
laryngeal neoplasmOpen Targets
0.05Suggestive
PilomatrixomaOpen Targets
0.05Suggestive
mycosis fungoidesOpen Targets
0.05Suggestive
familial primary localized cutaneous amyloidosisOpen Targets
0.05Suggestive
hereditary leiomyomatosis and renal cell cancerOpen Targets
0.05Suggestive
ichthyosis, lamellar, autosomal dominantOpen Targets
0.04Suggestive
hyperkeratosis lenticularis perstansOpen Targets
0.04Suggestive
psoriasisOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
head and neck squamous cell carcinomaOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
skin neoplasmOpen Targets
0.01Suggestive
actinic keratosisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DNASE1L1Shared pathway67%DNASE1L2Shared pathway67%REXO4Shared pathway60%DNASE2Shared pathway40%DNASE1L3Shared pathway40%DNTTShared pathway40%
Tissue Expression6 tissues
Lung
100%
Ovary
94%
Bone Marrow
63%
Liver
57%
Heart
20%
Brain
18%
Gene Interaction Network
Click a node to explore
TREX2DNASE1L1DNASE1L2REXO4DNASE2DNASE1L3DNTT
PROTEIN STRUCTURE
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PDB1Y97 · 2.50 Å · X-ray
View on RCSB ↗
RankingsWhere TREX2 stands among ~20K protein-coding genes
  • #9,398of 20,598
    Most Researched46
Genes detectedTREX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
NSUN2 is a glucose sensor suppressing cGAS/STING to maintain tumorigenesis and immunotherapy resistance.
PMID: 37586363
Cell Metab · 2023
1.00
2
The human nucleoporin Tpr protects cells from RNA-mediated replication stress.
PMID: 34168151
Nat Commun · 2021
0.90
3
Transfer of mitochondrial DNA into the nuclear genome during induced DNA breaks.
PMID: 39487167
Nat Commun · 2024
0.80
4
DNA methylation at an enhancer of the three prime repair exonuclease 2 gene (TREX2) is linked to gene expression and survival in laryngeal cancer.
PMID: 31053176
Clin Epigenetics · 2019
0.70
5
Metabolic Regulation of cGAS-STING Signaling in the Tumor Microenvironment: Dual Immune Roles and Therapeutic Implications.
PMID: 40517100
Cytokine Growth Factor Rev · 2025
0.60