EXD2: Exonuclease 3'-5' Domain Containing 2
A key regulator of DNA repair and mitochondrial genome maintenance
Gene Information Card
| Symbol | EXD2 |
|---|---|
| Full Name | Exonuclease 3'-5' Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 55218 ncbi.nlm.nih.gov/gene/55218 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9NVH0 |
| OMIM ID | 617697 |
| HGNC ID | 25644 |
| Aliases | EXDL2, FLJ12688, MGC13170 |
Description
EXD2 (Exonuclease 3'-5' Domain Containing 2) encodes a protein with 3'-5' exonuclease activity involved in DNA repair and mitochondrial genome maintenance. It localizes to both the nucleus and mitochondria, where it processes DNA ends during double-strand break repair and regulates mitochondrial DNA replication and transcription. EXD2 is essential for genomic stability and cellular energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | EXD2 mutations may impair DNA repair, leading to genomic instability and tumorigenesis | ClinVar |
| Ovarian cancer | Altered EXD2 expression linked to defective homologous recombination | COSMIC |
| Neurodegenerative disorders | Mitochondrial dysfunction due to EXD2 loss may contribute to neuronal cell death | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.7 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| MCF7 | 7.5 | Breast cancer cell line |
| A549 | 6.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Loss of function; truncation of exonuclease domain |
| c.157G>A (p.Gly53Arg) | Missense | Rare | Likely damaging; affects protein stability |
| c.788_789del (p.Leu263fs) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing exonuclease activity and DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5' exonuclease activity | • DNA binding |
| • mitochondrion | • nucleus |
| • DNA repair | • double-strand break repair |
| • mitochondrial DNA replication | • mitochondrial genome maintenance |
Pathways
• Homologous recombination repair
• Mitochondrial DNA replication and repair
Protein Summary
EXD2 is a 3'-5' exonuclease that localizes to the nucleus and mitochondria. It processes DNA ends during homologous recombination repair and regulates mitochondrial DNA replication and transcription. The protein contains an exonuclease domain and is critical for maintaining genomic and mitochondrial genome stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXD2 Knockout HEK293 Cell Line | EDJ-KQ13341 | Human | 55218 | Details Get a Quote |
| EXD2 Knockout HCT 116 Cell Line | EDJ-KQ41587 | Human | 55218 | Details Get a Quote |
| EXD2 Knockout A-549 Cell Line | EDJ-KQ42818 | Human | 55218 | Details Get a Quote |
| EXD2 Knockout HeLa Cell Line | EDJ-KQ42820 | Human | 55218 | Details Get a Quote |
