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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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REXO2
RNA exonuclease 2
Chromosome 11 · 11q23.2
NCBI Gene: 25996Ensembl: ENSG00000076043.12HGNC: HGNC:17851UniProt: Q9Y3B8
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial intermembrane spacemitochondrial matrixmagnesium ion binding3'-5'-RNA exonuclease activityneurodegenerative diseaselysosomal storage diseaseulcerative colitisCombined hyperlipidemia
✦AI Summary

REXO2 is a 3'-to-5' exoribonuclease primarily localized to mitochondria that preferentially degrades short RNA and DNA oligonucleotides (nanoRNA and dinucleotides) 1. The enzyme functions as a homodimer that recognizes the 3'-end nucleobases of substrates through hydrophobic and π-π stacking interactions, requiring magnesium ions for catalysis 1. In mitochondria, REXO2 plays dual roles: 'scavenging' short RNAs produced by the mitochondrial degradosome and clearing RNA processing intermediates to prevent accumulation of double-stranded RNA 2. REXO2 maintains promoter specificity by degrading dinucleotides that otherwise aberrantly stimulate non-specific transcription initiation in mitochondrial DNA 3. Pathologically, REXO2 dysfunction causes interferonopathy; dominant-negative mutations lead to cytosolic accumulation of mitochondrial dsRNA, triggering MDA5-mediated innate immunity and type I interferon responses 4. Clinically, elevated REXO2 expression correlates with poor prognosis in hepatocellular carcinoma and lower-grade glioma, associated with increased tumor cell proliferation and immune infiltration via TNF and NF-κB signaling 56. REXO2 also represents a potential therapeutic target in bladder cancer, where its overexpression associates with metabolic disorders and reduced survival 7.

Sources cited
1
REXO2 is a 3'-to-5' exonuclease that degrades nanoRNA through magnesium-dependent hydrolysis, binding small oligonucleotides via hydrophobic and π-π stacking interactions
PMID: 30926754
2
REXO2 controls mitochondrial short RNAs, prevents accumulation of double-stranded RNA, and plays dual roles in scavenging degradosome products and clearing RNA processing intermediates
PMID: 32365187
3
REXO2 is a dinucleotide-degrading enzyme required to maintain promoter specificity and proper transcription regulation in mammalian mitochondria
PMID: 31588022
4
Dominant-negative REXO2 mutations cause interferonopathy through accumulation of mitochondrial dsRNA in cytosol, triggering MDA5-mediated type I interferon response
PMID: 39107301
5
REXO2 up-regulation is an independent prognostic factor in hepatocellular carcinoma associated with poor prognosis, increased proliferation/invasion, and immune infiltration via TNF/NF-κB pathways
PMID: 38401464
6
REXO2 expression correlates with worse prognosis in IDH wild-type lower-grade glioma and is associated with increased immune infiltration
PMID: 34088969
7
REXO2 is identified as a potential bladder cancer target gene associated with metabolic disorders and poor prognosis in the aggressive DP subtype
PMID: 40528211
8
REXO2 mutations are recognized as causes of interferonopathy, a novel autoinflammatory disorder
PMID: 41152899
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
lysosomal storage diseaseOpen Targets
0.26Weak
ulcerative colitisOpen Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
gliomaOpen Targets
0.04Suggestive
hypertriglyceridemia 2Open Targets
0.04Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.03Suggestive
Hyperlipoproteinemia type 1Open Targets
0.03Suggestive
amegakaryocytic thrombocytopenia, congenital, 2Open Targets
0.03Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.03Suggestive
glycogen storage disease VIOpen Targets
0.03Suggestive
hyperinsulinemic hypoglycemia, familial, 8Open Targets
0.03Suggestive
sitosterolemia 2Open Targets
0.03Suggestive
familial hypercholesterolemiaOpen Targets
0.03Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.03Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.03Suggestive
glycogen storage disease IXa1Open Targets
0.03Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.03Suggestive
coronary artery diseaseOpen Targets
0.03Suggestive
coronary artery disease, autosomal dominant 2Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
REXO1Protein interaction95%REXO5Protein interaction92%REXO4Protein interaction85%PGM5Protein interaction79%PNPT1Protein interaction75%TK2Shared pathway40%
Tissue Expression6 tissues
Heart
100%
Ovary
54%
Bone Marrow
39%
Lung
38%
Liver
28%
Brain
13%
Gene Interaction Network
Click a node to explore
REXO2REXO1REXO5REXO4PGM5PNPT1TK2
PROTEIN STRUCTURE
Preparing viewer…
PDB6N6J · 1.32 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.31LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.52–1.31]
RankingsWhere REXO2 stands among ~20K protein-coding genes
  • #10,385of 20,598
    Most Researched39
  • #13,817of 17,882
    Most Constrained (LOEUF)1.31
Genes detectedREXO2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Pathway-based cancer transcriptome deciphers a high-resolution intrinsic heterogeneity within bladder cancer classification.
PMID: 40528211
J Transl Med · 2025
1.00
2
Human REXO2 controls short mitochondrial RNAs generated by mtRNA processing and decay machinery to prevent accumulation of double-stranded RNA.
PMID: 32365187
Nucleic Acids Res · 2020
0.90
3
Heterozygous de novo dominant negative mutation of REXO2 results in interferonopathy.
PMID: 39107301
Nat Commun · 2024
0.80
4
Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress.
PMID: 41152899
Pediatr Rheumatol Online J · 2025
0.70
5
RUNX1 and REXO2 are associated with the heterogeneity and prognosis of IDH wild type lower grade glioma.
PMID: 34088969
Sci Rep · 2021
0.60