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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MUS81
MUS81 structure-specific endonuclease subunit
Chromosome 11 · 11q13.1
NCBI Gene: 80198Ensembl: ENSG00000172732.13HGNC: HGNC:29814UniProt: Q53ES5
143PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA catabolic processresponse to intra-S DNA damage checkpoint signalingDNA endonuclease activityresolution of mitotic recombination intermediatesAbnormality of the skeletal systembasal cell carcinomagastric cancerhepatocellular carcinoma
✦AI Summary

MUS81 is the catalytic subunit of two structure-specific DNA endonucleases—MUS81-EME1 and MUS81-EME2—that maintain genome stability 12. Both complexes cleave 3'-flaps and nicked Holliday junctions with similar substrate specificity, though MUS81-EME2 exhibits greater activity 13. MUS81-EME2 functions during DNA replication to process stalled replication forks by generating double-strand breaks that can be repaired via homologous recombination, enabling fork restart when obstacles like DNA lesions or interstrand cross-links impede progression 4. MUS81-EME1 operates later in the cell cycle, resolving mitotic recombination intermediates including Holliday junctions formed during homologous recombination 4. MUS81 also participates in resolving R-loop-mediated transcription-replication conflicts through fork cleavage, facilitating replication restart 5. Clinically, MUS81 function varies contextually: in microsatellite-unstable cancers, MUS81 cleaves expanded TA repeats when the WRN helicase is depleted, causing chromosome 11 6. Additionally, MUS81-EME1 functions within the SMX nuclease complex as a backup pathway when the BTR complex cannot resolve DNA intermediates, suggesting therapeutic potential in certain cancer contexts 78.

Sources cited
1
MUS81-EME1 and MUS81-EME2 have similar substrate specificity, cleaving 3'-flaps and nicked Holliday junctions
PMID: 24371268
2
Both MUS81-EME1 and MUS81-EME2 are structure-specific endonucleases involved in genome stability
PMID: 24733841
3
MUS81-EME2 is more active than MUS81-EME1 in cleaving 3'-flaps and Holliday junctions
PMID: 35290797
4
MUS81-EME2 processes stalled replication forks during DNA replication; MUS81-EME1 resolves mitotic recombination intermediates
PMID: 24813886
5
MUS81 participates in resolving R-loop-mediated transcription-replication conflicts and replication fork restart
PMID: 36453994
6
MUS81 cleaves expanded TA repeats in microsatellite-unstable cancers when WRN is depleted, causing chromosome shattering
PMID: 32999459
7
MUS81-EME1 functions in the SMX complex as a backup pathway for resolving DNA intermediates when the BTR complex is defective
PMID: 38266639
8
MUS81 complex exhibits differential roles in tumors with distinct genetic backgrounds, with potential therapeutic implications
PMID: 33791310
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.21Weak
basal cell carcinomaOpen Targets
0.12Weak
gastric cancerOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
Rare genetic vascular diseaseOpen Targets
0.08Suggestive
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.08Suggestive
Aortic CoarctationOpen Targets
0.07Suggestive
aortic aneurysm, familial thoracic 7Open Targets
0.07Suggestive
fibromuscular dysplasiaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
aortic aneurysm, familial thoracic 4Open Targets
0.07Suggestive
atherosclerosisOpen Targets
0.07Suggestive
congenital heart diseaseOpen Targets
0.06Suggestive
obesityOpen Targets
0.06Suggestive
Moyamoya disease 5Open Targets
0.06Suggestive
aortic aneurysm, familial thoracic 6Open Targets
0.06Suggestive
congenital heart defects, multiple types, 7Open Targets
0.06Suggestive
congenital left-sided heart lesionsOpen Targets
0.06Suggestive
hypoplastic left heart syndrome 1Open Targets
0.06Suggestive
left ventricular noncompactionOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DNA2Protein interaction100%TOP3AProtein interaction100%WRNProtein interaction100%DCAF1Protein interaction100%TERF2IPProtein interaction100%RMI1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
86%
Liver
68%
Heart
57%
Bone Marrow
38%
Brain
27%
Gene Interaction Network
Click a node to explore
MUS81DNA2TOP3AWRNDCAF1TERF2IPRMI1
PROTEIN STRUCTURE
Preparing viewer…
PDB7BU5 · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.75–1.12]
RankingsWhere MUS81 stands among ~20K protein-coding genes
  • #3,200of 20,598
    Most Researched143 · top quartile
  • #11,462of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedMUS81
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Repeat expansions confer WRN dependence in microsatellite-unstable cancers.
PMID: 32999459
Nature · 2020
1.00
2
Human MUS81: A Fence-Sitter in Cancer.
PMID: 33791310
Front Cell Dev Biol · 2021
0.90
3
Holliday junction resolvases.
PMID: 25183833
Cold Spring Harb Perspect Biol · 2014
0.80
4
The fuss about Mus81.
PMID: 11733053
Cell · 2001
0.70
5
Roles of eukaryotic topoisomerases in transcription, replication and genomic stability.
PMID: 27649880
Nat Rev Mol Cell Biol · 2016
0.60