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 |
|---|---|---|---|
| RS2496618496 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS2496653611 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496653723 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2531482062 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS587781828 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS866104898 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS876658665 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS876658917 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS876659145 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS876659343 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS878854776 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS929767929 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS1157436927 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1160887570 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1169667763 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1245161888 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1264516058 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1299953525 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS1343179190 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1359551200 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1376550081 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS137852759 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS1437693931 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555002419 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555017238 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1565233979 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS1591652976 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591672201 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591692886 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591703044 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591719208 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1946397259 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS1946676671 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS1946857788 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2134830912 | Health Risk | Pathogenic | — |
| RS2134831001 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2134969994 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2134999584 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2135024880 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496166703 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496208753 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496360541 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496361252 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496361666 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496384376 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496384744 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496385772 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496386852 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS2496399525 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496400489 | Health Risk | Pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |