MRE11 Chromosome 11
MRE11 double strand break repair nuclease
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What This Gene Does
This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"BRCA1 C complex|MRN complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q21
Ensembl
ENSG00000020922
Associated Conditions (22)
Triple-negative breast cancer
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia-like disorder
Ataxia-telangiectasia-like disorder 1
Dystonic disorder
Dementia
Depression
Parkinsonian disorder
MRE11-related disorder
Hepatocellular carcinoma
Hereditary breast ovarian cancer syndrome
Hereditary cancer
Malignant tumor of urinary bladder
Ovarian cancer
Premature ovarian insufficiency
Thyroid cancer
nonmedullary
1
Renal transitional cell carcinoma
Breast carcinoma
+2 more conditions
Key Variants
RS863225441
association
Triple-negative breast cancer, Triple-negative breast cancer
Health Risk
RS1001831519
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1002601808
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1028566396
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1
Health Risk
RS104895016
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder
Health Risk
RS1060501784
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1238614630
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1293831035
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1329286592
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS137852760
Conflicting classifications of pathogenicity
Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
Health Risk
RS137868143
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder
Health Risk
RS138017560
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1
Health Risk
All Variants (263)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765675945 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS774277300 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS774440500 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS779269083 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS780001540 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Breast carcinoma |
| RS780775598 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS786202032 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786202253 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS786202764 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome |
| RS863224508 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS876660186 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS951805101 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS984874083 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |