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 |
|---|---|---|---|
| RS2496427855 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496481962 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496493871 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496495665 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496497653 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496534663 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496555527 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS2496555781 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496621808 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496652464 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496653343 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496667489 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS587782030 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS730881752 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS745766916 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS757691558 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS759680878 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS767787348 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS776912688 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS786203314 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786203682 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786203931 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS876660269 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501788 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome |
| RS1157413766 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Renal transitional cell carcinoma |
| RS1180352898 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome |
| RS1215450873 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Ataxia-telangiectasia-like disorder |
| RS137852761 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS137852763 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS1411087205 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome |
| RS1440482403 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS1555005270 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome |
| RS1555009931 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome |
| RS1555017184 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS1565228898 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1591681273 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS1591688367 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS1946499901 | Health Risk | Pathogenic/Likely pathogenic | Breast carcinoma, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS2134840569 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS2134999988 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS2496427766 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS2496495153 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS371455048 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS372411821 | Health Risk | Pathogenic/Likely pathogenic | Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS587781381 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS587781384 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS587781822 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS745677716 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS747832587 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS759130031 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |