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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EXD2
exonuclease 3'-5' domain containing 2
Chromosome 14 · 14q24.1
NCBI Gene: 55218Ensembl: ENSG00000081177.20HGNC: HGNC:20217UniProt: A8K948
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous Recombination
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
3'-5'-RNA exonuclease activitymagnesium ion bindingDNA double-strand break processingdouble-strand break repairtype 2 diabetes mellitusdiabetes mellituscoronary artery diseasesmoking cessation
✦AI Summary

EXD2 is a 3'-5' exonuclease with dual catalytic activities depending on cofactor availability 12. In the presence of Mg2+, it exhibits 3'-5' exoribonuclease activity, while Mn2+ enables both exoribonuclease and exodeoxyribonuclease activities 12. EXD2 functions in multiple DNA homeostasis pathways. Nuclearly, it promotes homologous recombination by facilitating double-strand break resection through interaction with the MRN complex 3. EXD2 also protects stalled replication forks by restraining excessive fork regression, preventing fork collapse and enabling restart 4. Recently, EXD2 was identified as a pivotal R-loop resolvase that, upon PARP1-mediated recruitment via poly(ADP-ribose) binding, preferentially degrades RNA strands within R-loops to resolve these structures and maintain genome stability 5. Additionally, EXD2 directs telomere maintenance through alternative lengthening pathways in cancer cells by orchestrating replication fork processing 6. Clinically, EXD2 depletion shows synthetic lethality with BRCA1/2 mutations 4, suggesting therapeutic potential. Structurally, EXD2 contains an N-terminal mitochondrial outer membrane anchor with a cytosolic C-terminal exonuclease domain 2, enabling both mitochondrial and nuclear functions.

Sources cited
1
EXD2 has 3'-5' exoribonuclease activity with Mg2+ and both exoribonuclease and exodeoxyribonuclease activities with Mn2+
PMID: 29335528
2
EXD2 structure reveals chimeric exonuclease domain with metal-dependent substrate discrimination and mitochondrial outer membrane anchoring
PMID: 31127291
3
EXD2 promotes homologous recombination by facilitating DNA end resection through interaction with MRN complex
PMID: 26807646
4
EXD2 protects stalled replication forks by restraining fork regression and shows synthetic lethality with BRCA1/2 mutations
PMID: 31255466
5
EXD2 acts as R-loop resolvase, recruited via PARP1-synthesized PAR polymers, and preferentially degrades RNA strands in R-loops
PMID: 40579572
6
EXD2 nuclease directs alternative lengthening of telomeres maintenance in cancer cells through replication fork processing
PMID: 37105990
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.38Weak
diabetes mellitusOpen Targets
0.35Weak
coronary artery diseaseOpen Targets
0.32Weak
smoking cessationOpen Targets
0.30Weak
respiratory tract infectious disorderOpen Targets
0.28Weak
vascular diseaseOpen Targets
0.28Weak
pericarditisOpen Targets
0.28Weak
Limb painOpen Targets
0.26Weak
intelligenceOpen Targets
0.26Weak
musculoskeletal system diseaseOpen Targets
0.23Weak
adrenal gland hyperfunctionOpen Targets
0.21Weak
hyperaldosteronismOpen Targets
0.21Weak
Abnormality of refractionOpen Targets
0.19Weak
hypertensionOpen Targets
0.17Weak
heart diseaseOpen Targets
0.17Weak
response to statinOpen Targets
0.17Weak
response to xenobiotic stimulusOpen Targets
0.15Weak
HeadacheOpen Targets
0.14Weak
smoking initiationOpen Targets
0.11Weak
Abdominal painOpen Targets
0.10Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CNOT2Protein interaction85%TMEM214Protein interaction85%RECQLShared pathway38%GEN1Shared pathway30%MMS22LShared pathway29%ASTE1Shared pathway29%
Tissue Expression6 tissues
Brain
100%
Heart
66%
Ovary
47%
Lung
34%
Liver
34%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
EXD2CNOT2TMEM214RECQLGEN1MMS22LASTE1
PROTEIN STRUCTURE
Preparing viewer…
PDB6K17 · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.46–0.79]
RankingsWhere EXD2 stands among ~20K protein-coding genes
  • #8,066of 20,598
    Most Researched56
  • #6,448of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedEXD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The PARP1-EXD2 axis orchestrates R-loop resolution to safeguard genome stability.
PMID: 40579572
Nat Chem Biol · 2026
1.00
2
Pathway choice in the alternative telomere lengthening in neoplasia is dictated by replication fork processing mediated by EXD2's nuclease activity.
PMID: 37105990
Nat Commun · 2023
0.90
3
SF3B1 hotspot mutations confer sensitivity to PARP inhibition by eliciting a defective replication stress response.
PMID: 37524790
Nat Genet · 2023
0.80
4
EXD2 promotes homologous recombination by facilitating DNA end resection.
PMID: 26807646
Nat Cell Biol · 2016
0.70
5
The mitochondrial outer-membrane location of the EXD2 exonuclease contradicts its direct role in nuclear DNA repair.
PMID: 29599527
Sci Rep · 2018
0.60