ENDOG (Endonuclease G) Gene
Mitochondrial Endonuclease Involved in Apoptosis and DNA Repair
Gene Information Card
| Symbol | ENDOG |
|---|---|
| Full Name | Endonuclease G |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 2021 ncbi.nlm.nih.gov/gene/2021 |
| Ensembl ID | ENSG00000167136 |
| UniProt ID | Q14249 |
| OMIM ID | 600440 |
| HGNC ID | 3346 |
| Aliases | ENDOG1, ENDOGL1, endonuclease G, mitochondrial |
Description
ENDOG encodes endonuclease G, a mitochondrial nuclease that translocates to the nucleus during apoptosis to cleave DNA. It is involved in mitochondrial DNA replication, repair, and cell death pathways. The gene is located on chromosome 9q34.11 and is conserved across eukaryotes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (HSP) | Loss-of-function mutations in ENDOG impair mitochondrial DNA maintenance, leading to axonal degeneration. | PMID: 31730862 |
| Cancer (various) | Altered ENDOG expression affects apoptosis and genomic instability; observed in breast, lung, and colorectal cancers. | COSMIC, PMID: 25691885 |
| Neurodegenerative disorders | Dysregulation of ENDOG-mediated apoptosis contributes to neuronal cell death in Alzheimer's and Parkinson's disease. | PMID: 23382116 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Brain | 8.9 | Medium |
| Skeletal muscle | 7.4 | Low |
| Kidney | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK293 | 13.1 | Embryonic kidney cells |
| MCF7 | 11.7 | Breast cancer cell line |
| HepG2 | 10.5 | Liver cancer cell line |
| SH-SY5Y | 9.2 | Neuroblastoma 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% | Loss of start codon, likely loss of function |
| c.364C>T (p.Arg122Trp) | Missense | 0.02% | Reduced nuclease activity, associated with HSP |
| c.748G>A (p.Gly250Ser) | Missense | 0.01% | Unknown functional effect |
| c.962_963del (p.Glu321Glyfs*12) | Frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent protein, impairing mitochondrial DNA cleavage and apoptosis.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported in literature or curated databases.
View complete mutation data：
Gene Ontology (GO)
| • endonuclease activity | • mitochondrion |
| • apoptotic process | • DNA catabolic process |
| • nucleus | • mitochondrial DNA replication |
| • DNA repair |
Pathways
• Apoptosis (KEGG hsa04210)
• Mitochondrial DNA replication and repair
Protein Summary
Endonuclease G (ENDOG) is a 297-amino acid mitochondrial protein that functions as a DNA endonuclease. It is released from mitochondria during apoptosis and translocates to the nucleus to cleave chromosomal DNA. It also participates in mitochondrial DNA replication and repair. The protein contains a conserved endonuclease domain and is ubiquitously expressed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENDOG Knockout HEK293 Cell Line | EDJ-KQ50255 | Human | 2021 | Details Get a Quote |
| ENDOG Knockout HeLa Cell Line | EDJ-KQ53160 | Human | 2021 | Details Get a Quote |
| ENDOG Knockout A-549 Cell Line | EDJ-KQ61635 | Human | 2021 | Details Get a Quote |
| ENDOG Knockout HCT 116 Cell Line | EDJ-KQ70120 | Human | 2021 | Details Get a Quote |
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