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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MRE11
MRE11 double strand break repair nuclease
Chromosome 11 Β· 11q21
NCBI Gene: 4361Ensembl: ENSG00000020922.13HGNC: HGNC:7230UniProt: F8W7U8
522PubMed Papers
21Diseases
0Drugs
188Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous RecombinationHub Gene
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
DNA endonuclease activityreplication forkR-loop processingDNA damage responseataxia-telangiectasia-like disorderInherited cancer-predisposing syndromehereditary neoplastic syndromecancer
✦AI Summary

MRE11 is a critical DNA repair nuclease that forms the MRN complex with RAD50 and NBN, serving as a primary sensor and processor of DNA double-strand breaks 1. The protein exhibits 3'-5' exonuclease activity and binds both single-stranded and double-stranded DNA to initiate homologous recombination repair through DNA end resection 12. MRE11 function is regulated through multiple post-translational modifications: UFMylation at K282 promotes MRN complex formation and optimal ATM activation 3, while lactylation at K673 enhances DNA binding and facilitates DNA end resection 4. Beyond DNA repair, MRE11 plays crucial roles in tumor suppression by liberating cGAS from nucleosome sequestration, enabling cGAS-STING pathway activation and promoting necroptosis in response to oncogenic stress 5. The protein also coordinates replication stress responses with interferon signaling during oncogene-induced senescence 6. Clinically, germline pathogenic variants in MRE11 show limited association with increased cancer risk, unlike variants in NBN which significantly increase melanoma, pancreatic, and hematological cancer risks 7. MRE11's central role in maintaining genome stability makes it a potential therapeutic target, particularly in BRCA1/2-deficient cancers where it mediates replication fork degradation 8.

Sources cited
1
MRE11 forms MRN complex with RAD50 and NBS1, is recruited to DNA damage sites, and initiates DNA end resection
PMID: 31353207
2
MRE11 has exonuclease activity that is regulated by METTL16 interaction and performs DNA end resection
PMID: 36138131
3
MRE11 UFMylation at K282 is required for MRN complex formation and optimal ATM activation
PMID: 30783677
4
MRE11 lactylation at K673 promotes DNA binding and facilitates DNA end resection
PMID: 38128537
5
MRE11 suppresses tumorigenesis by liberating cGAS and enabling cGAS-STING pathway activation
PMID: 38200309
6
MRE11 coordinates replication stress and interferon responses during oncogene-induced senescence
PMID: 38926338
7
Germline pathogenic variants in MRE11 show limited cancer risk association compared to NBN variants
PMID: 38924040
8
MRE11 mediates replication fork degradation in BRCA1/2-deficient cells
PMID: 38649452
Disease Associationsβ“˜21
ataxia-telangiectasia-like disorderOpen Targets
0.83Strong
hereditary neoplastic syndromeOpen Targets
0.57Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.57Moderate
cancerOpen Targets
0.54Moderate
Hereditary breast and ovarian cancer syndromeOpen Targets
0.51Moderate
hereditary breast ovarian cancer syndromeOpen Targets
0.51Moderate
breast carcinomaOpen Targets
0.40Weak
Nijmegen breakage syndrome-like disorderOpen Targets
0.37Weak
triple-negative breast cancerOpen Targets
0.34Weak
colonic neoplasmOpen Targets
0.33Weak
Renal transitional cell carcinomaOpen Targets
0.33Weak
ovarian cancerOpen Targets
0.31Weak
systemic lupus erythematosusOpen Targets
0.22Weak
autoimmune disorder of musculoskeletal systemOpen Targets
0.22Weak
alcohol drinkingOpen Targets
0.21Weak
urinary bladder carcinomaOpen Targets
0.19Weak
urinary bladder cancerOpen Targets
0.18Weak
dementiaOpen Targets
0.15Weak
DystoniaOpen Targets
0.15Weak
dystonic disorderOpen Targets
0.15Weak
Ataxia-telangiectasia-like disorder 1UniProt
Pathogenic Variants188
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)Pathogenic
Ataxia-telangiectasia-like disorder 1|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 633
NM_005591.4(MRE11):c.1927-1G>TLikely pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder
β˜…β˜…β˜†β˜†2025
NM_005591.4(MRE11):c.295_298del (p.Val99fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β˜…β˜…β˜†β˜†2025β†’ Residue 99
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder|not provided|Hereditary breast ovarian cancer syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 364
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder|not provided|Colonic neoplasm
β˜…β˜…β˜†β˜†2025β†’ Residue 576
NM_005591.4(MRE11):c.504_511del (p.Leu169fs)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β˜…β˜…β˜†β˜†2025β†’ Residue 169
NM_005591.4(MRE11):c.315-2A>GLikely pathogenic
Hereditary cancer-predisposing syndrome|not provided|Hereditary breast ovarian cancer syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder
β˜…β˜…β˜†β˜†2025
NM_005591.4(MRE11):c.402+1G>ALikely pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β˜…β˜…β˜†β˜†2025
NM_005591.4(MRE11):c.784del (p.Tyr262fs)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 262
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1|Hereditary breast ovarian cancer syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 506
NM_005591.4(MRE11):c.1867+2T>CPathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1|not provided
β˜…β˜…β˜†β˜†2025
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter)Pathogenic
Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β˜…β˜…β˜†β˜†2025β†’ Residue 630
NM_005591.4(MRE11):c.1927-2A>GPathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder|not provided
β˜…β˜…β˜†β˜†2025
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β˜…β˜…β˜†β˜†2025β†’ Residue 511
NM_005591.4(MRE11):c.1326+2T>GLikely pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β˜…β˜…β˜†β˜†2025
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β˜…β˜…β˜†β˜†2025β†’ Residue 77
NM_005591.4(MRE11):c.170T>G (p.Leu57Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Acute myeloid leukemia|Ataxia-telangiectasia-like disorder 1
β˜…β˜…β˜†β˜†2025β†’ Residue 57
NM_005591.4(MRE11):c.1444_1445del (p.Gln482fs)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 482
NM_005591.4(MRE11):c.163_167del (p.Ile55fs)Pathogenic
Ataxia-telangiectasia-like disorder|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 55
NM_005591.4(MRE11):c.1742_1743insAT (p.Gln582fs)Likely pathogenic
not provided|Ataxia-telangiectasia-like disorder 1
β˜…β˜…β˜†β˜†2024β†’ Residue 582
View on ClinVar β†—
Related Genes
BRIP1Protein interaction100%EXO1Protein interaction100%MSH2Protein interaction100%PMS2Protein interaction100%MSH6Protein interaction100%TERF2IPProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
50%
Brain
43%
Lung
35%
Heart
27%
Liver
24%
Gene Interaction Network
Click a node to explore
MRE11BRIP1EXO1MSH2PMS2MSH6TERF2IP
PROTEIN STRUCTURE
Preparing viewer…
PDB8K00 Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.50–0.80]
RankingsWhere MRE11 stands among ~20K protein-coding genes
  • #500of 20,598
    Most Researched522 Β· top 5%
  • #372of 5,498
    Most Pathogenic Variants188 Β· top 10%
  • #6,664of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedMRE11
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Metabolic regulation of homologous recombination repair by MRE11 lactylation.
PMID: 38128537
Cell Β· 2024
1.00
2
MRE11 liberates cGAS from nucleosome sequestration during tumorigenesis.
PMID: 38200309
Nature Β· 2024
0.90
3
Structural basis for DNA break sensing by human MRE11-RAD50-NBS1 and its regulation by telomeric factor TRF2.
PMID: 40968163
Nat Commun Β· 2025
0.84
4
MRNIP limits ssDNA gaps during replication stress.
PMID: 38917325
Nucleic Acids Res Β· 2024
0.82
5
MRE11 and TREX1 control senescence by coordinating replication stress and interferon signaling.
PMID: 38926338
Nat Commun Β· 2024
0.80