MRE11 Homolog, Double Strand Break Repair Nuclease
A key component of the MRN complex involved in DNA damage repair and telomere maintenance.
Gene Information Card
| Symbol | MRE11 |
|---|---|
| Full Name | MRE11 homolog, double strand break repair nuclease |
| Gene Type | protein-coding |
| Chromosomal Location | 11q21 |
| NCBI Gene ID | 4361 ncbi.nlm.nih.gov/gene/4361 |
| Ensembl ID | ENSG00000020922 |
| UniProt ID | P49959 |
| OMIM ID | 600814 |
| HGNC ID | 7230 |
| Aliases | MRE11A, ATLD, HNGS1, MRE11B |
Description
MRE11 encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. The protein forms the MRN complex with RAD50 and NBN (NBS1). This complex possesses single-strand endonuclease and double-strand-specific 3'-5' exonuclease activity, critical for DNA end processing. Mutations in MRE11 cause ataxia-telangiectasia-like disorder (ATLD) and are associated with susceptibility to various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ataxia-telangiectasia-like disorder (ATLD) | Loss-of-function mutations impair DNA damage signaling and repair, leading to neurodegeneration and radiosensitivity. | OMIM #604391 |
| Breast cancer | Germline and somatic MRE11 variants may disrupt homologous recombination, increasing genomic instability. | ClinVar, COSMIC |
| Colorectal cancer | Somatic mutations and altered expression of MRE11 contribute to microsatellite instability and tumor progression. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.8 | Medium |
| Bone marrow | 10.5 | Medium |
| Lymph node | 9.2 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line; high expression |
| MCF7 | 11.5 | Breast cancer cell line; moderate expression |
| K562 | 9.8 | Leukemia cell line; moderate expression |
| HepG2 | 7.3 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1714C>T (p.Arg572Ter) | Nonsense | Rare | Loss of function; associated with ATLD |
| c.1100C>T (p.Thr367Ile) | Missense | <0.01% | Impaired nuclease activity; linked to cancer susceptibility |
| c.1890+1G>A | Splice site | Rare | Aberrant splicing; loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, reducing DNA repair capacity and causing genomic instability.
Gain of Function (GOF)
Not well documented; gain-of-function mutations are rare or absent in current databases.
Dominant Negative (DN)
Some missense mutations (e.g., p.Thr367Ile) may act in a dominant-negative manner by disrupting MRN complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • double-strand break repair via homologous recombination | • telomere maintenance |
| • DNA endonuclease activity | • exonuclease activity |
| • protein binding | • nucleus |
Pathways
• Homologous recombination (KEGG: hsa03440)
• Non-homologous end-joining (KEGG: hsa03450)
• DNA damage response (Reactome: R-HSA-5693568)
Protein Summary
MRE11 is a 708-amino acid protein with a molecular weight of ~80 kDa. It contains a nuclease domain, a DNA-binding domain, and a C-terminal region that interacts with RAD50. The protein is essential for DNA double-strand break repair, checkpoint activation, and telomere maintenance. Its nuclease activity processes DNA ends to generate 3' overhangs for homologous recombination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRE11 Knockout HEK293 Cell Line | EDJ-KQ3753 | Human | 4361 | Details Get a Quote |
| MRE11 Knockout A-549 Cell Line | EDJ-KQ25827 | Human | 4361 | Details Get a Quote |
| MRE11 Knockout HCT 116 Cell Line | EDJ-KQ25828 | Human | 4361 | Details Get a Quote |
| MRE11 Knockout HeLa Cell Line | EDJ-KQ25829 | Human | 4361 | Details Get a Quote |
| MRE11 (c.1784-66A>G )Point Mutation in HAP1 Cell Line | EDC03547 | Human | 4361 | Details Get a Quote |
| MRE11 (c.403-6G>A )Point Mutation in HAP1 Cell Line | EDC03548 | Human | 4361 | Details Get a Quote |
| MRE11 (c.20+28G>A )Point Mutation in HAP1 Cell Line | EDC03549 | Human | 4361 | Details Get a Quote |
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