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 |
|---|---|---|---|
| RS1195401812 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS1216591891 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS1264872458 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS1275867494 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1287311961 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS1295485913 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS137852762 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS145058858 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS1451215042 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS1475506136 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1 |
| RS1555002387 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555002390 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555002450 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555009945 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555012083 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555015413 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS1555017290 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555018818 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591634006 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591672744 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591693112 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome |
| RS1591718826 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1946353272 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS201572020 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2134989336 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2134999194 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS2135023557 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2135045937 | Health Risk | Likely pathogenic | — |
| RS2135047643 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2135086294 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2135122539 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2135149193 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496208006 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS2496280818 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496292658 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome |
| RS2496293545 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496297231 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496297949 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2496360780 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496387448 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496388153 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496399657 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496426326 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496461415 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496481690 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder |
| RS2496485739 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome |
| RS2496495560 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496497808 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS2496566673 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS2496568167 | Health Risk | Likely pathogenic | Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |