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 |
|---|---|---|---|
| RS863225441 | Health Risk | association | Triple-negative breast cancer, Triple-negative breast cancer |
| RS1001831519 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1002601808 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1028566396 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS104895016 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS1060501784 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1238614630 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1293831035 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1329286592 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS137852760 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS137868143 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS138017560 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS1381679718 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS139461096 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Dystonic disorder, Dementia |
| RS141293060 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS142082313 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS1423143143 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS142996063 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS144896235 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS145415033 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS147771140 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary breast ovarian cancer syndrome |
| RS148637964 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS1555015255 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS1591641001 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS1591654817 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1591719454 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1805364 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS185439615 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS186333183 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS190142346 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ovarian cancer |
| RS191426010 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS1947265336 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS199634245 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS199736271 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS200118981 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS201153937 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS201276188 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ovarian cancer |
| RS2496165880 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS2496554931 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496653918 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS3218740 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS368144567 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS368362407 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS369127675 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS371077728 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS372068015 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS373522639 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS374635285 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS374685908 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS375261439 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |