EME2: Essential Meiotic Structure-Specific Endonuclease Subunit 2
A key component of the MUS81-EME2 complex involved in DNA repair and replication fork stability.
Gene Information Card
| Symbol | EME2 |
|---|---|
| Full Name | Essential Meiotic Structure-Specific Endonuclease Subunit 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 197342 ncbi.nlm.nih.gov/gene/197342 |
| Ensembl ID | ENSG00000197933 |
| UniProt ID | Q96AY2 |
| OMIM ID | 609843 |
| HGNC ID | 24965 |
| Aliases | MUS81-EME2, MMS4L, C16orf41 |
Description
EME2 encodes a regulatory subunit of the MUS81-EME2 structure-specific endonuclease complex. This complex cleaves branched DNA structures such as replication forks, Holliday junctions, and 3'-flap substrates, playing a critical role in DNA repair, homologous recombination, and maintenance of genomic stability. EME2 is essential for meiotic recombination and cellular responses to replication stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Dysregulation of MUS81-EME2 endonuclease activity may promote genomic instability and tumorigenesis. | ClinVar; COSMIC |
| Ovarian Cancer | Altered expression of EME2 has been observed in ovarian tumors, potentially affecting DNA repair capacity. | COSMIC |
| Colorectal Cancer | Mutations in EME2 may contribute to microsatellite instability and defective DNA damage response. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.2 | Low |
| Lymph Node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Ovary | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| HEK293 | 9.1 | Embryonic kidney cells |
| MCF7 | 7.5 | Breast cancer cell line |
| HCT116 | 6.8 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown significance |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in EME2 impair MUS81-EME2 endonuclease activity, leading to defective DNA repair and increased sensitivity to DNA-damaging agents.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EME2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for EME2.
View complete mutation data：
Gene Ontology (GO)
| • endonuclease activity (GO:0004519) | • DNA repair (GO:0006281) |
| • DNA recombination (GO:0006310) | • reciprocal meiotic recombination (GO:0007131) |
| • DNA duplex unwinding (GO:0032508) | • replication fork protection (GO:0048478) |
Pathways
• Homologous recombination (Reactome: R-HSA-5695940)
• Resolution of D-loop structures (Reactome: R-HSA-5696398)
• DNA damage bypass (Reactome: R-HSA-73893)
Protein Summary
EME2 is a 45 kDa protein that forms a heterodimeric complex with MUS81. The MUS81-EME2 complex is a structure-specific endonuclease that cleaves 3'-flap DNA, replication forks, and nicked Holliday junctions. It is essential for resolving recombination intermediates during meiosis and for repairing stalled replication forks. EME2 contains a conserved ERCC4-like nuclease domain and is localized to the nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EME2 Knockout HEK293 Cell Line | EDJ-KQ11613 | Human | 197342 | Details Get a Quote |
| EME2 Knockout HCT 116 Cell Line | EDJ-KQ39957 | Human | 197342 | Details Get a Quote |
| EME2 Knockout HeLa Cell Line | EDJ-KQ39958 | Human | 197342 | Details Get a Quote |
| EME2 Knockout A-549 Cell Line | EDJ-KQ38648 | Human | 197342 | Details Get a Quote |
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