EXOG (Endo/Exonuclease (5'-3') Endonuclease G-Like)
Mitochondrial nuclease involved in DNA repair and apoptosis
Gene Information Card
| Symbol | EXOG |
|---|---|
| Full Name | Endo/Exonuclease (5'-3') Endonuclease G-Like |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 9941 ncbi.nlm.nih.gov/gene/9941 |
| Ensembl ID | ENSG00000114771 |
| UniProt ID | Q9Y2C4 |
| OMIM ID | 604988 |
| HGNC ID | 3347 |
| Aliases | ENDOGL1, ENDOGL2, MGC12966 |
Description
EXOG encodes a mitochondrial nuclease with both endonuclease and 5'-3' exonuclease activities. It is involved in mitochondrial DNA repair, replication, and apoptosis by cleaving DNA at abasic sites and processing DNA ends. The protein localizes to the mitochondrial intermembrane space and is essential for maintaining mitochondrial genome integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndromes | Impaired mtDNA repair due to EXOG deficiency leads to mtDNA depletion | Inferred from functional studies (PMID: 20041218) |
| Cancer (colorectal, breast) | Altered EXOG expression may affect apoptosis and genomic stability | COSMIC mutation data; limited clinical evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Brain | 5.1 | Low |
| Skeletal Muscle | 15.2 | Medium |
| Kidney | 9.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Moderate expression |
| HEK293 | 8.2 | Moderate expression |
| HepG2 | 7.9 | Moderate expression |
| K562 | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% | Loss of start codon; predicted loss of function |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Unknown; rare variant |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start codon loss) impair mitochondrial DNA repair and may contribute to mtDNA depletion.
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)
Pathways
• Mitochondrial DNA repair
• Apoptosis (mitochondrial pathway)
Protein Summary
EXOG is a 388-amino acid mitochondrial nuclease that cleaves DNA with both endonuclease and 5'-3' exonuclease activities. It processes abasic sites and DNA ends, playing a key role in mitochondrial DNA repair and replication. The protein is anchored to the inner mitochondrial membrane and released during apoptosis to contribute to DNA fragmentation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXOG Knockout HEK293 Cell Line | EDJ-KQ6834 | Human | 9941 | Details Get a Quote |
| EXOG Knockout A-549 Cell Line | EDJ-KQ31376 | Human | 9941 | Details Get a Quote |
| EXOG Knockout HCT 116 Cell Line | EDJ-KQ31377 | Human | 9941 | Details Get a Quote |
| EXOG Knockout HeLa Cell Line | EDJ-KQ31378 | Human | 9941 | Details Get a Quote |
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