TREX2: Three Prime Repair Exonuclease 2
A key enzyme in DNA repair and genome stability
Gene Information Card
| Symbol | TREX2 |
|---|---|
| Full Name | Three Prime Repair Exonuclease 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 11219 ncbi.nlm.nih.gov/gene/11219 |
| Ensembl ID | ENSG00000184270 |
| UniProt ID | Q9BQ52 |
| OMIM ID | 300511 |
| HGNC ID | 12270 |
| Aliases | DKFZp686A01242, MGC129606, MGC129607 |
Description
TREX2 (Three Prime Repair Exonuclease 2) encodes a 3'->5' exonuclease that plays a critical role in DNA repair, particularly in the processing of DNA double-strand breaks and the removal of mismatched nucleotides. It is involved in the non-homologous end joining (NHEJ) pathway and contributes to genome stability. The protein is primarily localized to the nucleus and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | Loss-of-function mutations in TREX2 impair DNA repair in lymphocytes, leading to immune defects | OMIM #300511 |
| Cancer (various) | Altered TREX2 expression or mutations may contribute to genomic instability and tumorigenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lymph node | 7.1 | Low |
| Bone marrow | 6.9 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| K562 | 7.5 | Low expression |
| HepG2 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.340C>T (p.Arg114*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Reduced exonuclease activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish exonuclease activity, leading to impaired DNA repair and genomic instability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • exonuclease activity (GO:0004527) | • DNA repair (GO:0006281) |
| • double-strand break repair via nonhomologous end joining (GO:0006303) | • nucleus (GO:0005634) |
Pathways
• Non-homologous end joining (NHEJ) - Reactome R-HSA-5693571
• DNA double-strand break repair - KEGG hsa03450
Protein Summary
TREX2 is a 3'->5' exonuclease that processes DNA ends during repair, particularly in non-homologous end joining. It removes mismatched nucleotides and generates blunt ends or short overhangs, facilitating ligation. The protein is essential for maintaining genome integrity and proper immune system function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TREX2 Knockout HEK293 Cell Line | EDJ-KQ7337 | Human | 11219 | Details Get a Quote |
| TREX2 Knockout HCT 116 Cell Line | EDJ-KQ32429 | Human | 11219 | Details Get a Quote |
| TREX2 Knockout HeLa Cell Line | EDJ-KQ32430 | Human | 11219 | Details Get a Quote |
| TREX2 Knockout A-549 Cell Line | EDJ-KQ64103 | Human | 11219 | Details Get a Quote |
