ENDOG (endonuclease G)

Gene

• Entrez ID: 2021
• Gene name: Endonuclease G
• Gene symbol: ENDOG
• Synonyms (NCBI Gene): -
• Chromosome: 9
• Chromosome location: 9q34.11
• Summary: The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This protein is capable of generating the RNA primers required

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029630	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IBA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000287	Function	Magnesium ion binding	ISS
GO:0001701	Process	In utero embryonic development	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	IMP	25355512, 29719607, 33473107
GO:0004521	Function	RNA endonuclease activity	IBA
GO:0004536	Function	DNA nuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	25036637, 28514442, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	33473107
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0006308	Process	DNA catabolic process	IEA
GO:0006309	Process	Apoptotic DNA fragmentation	IBA
GO:0006309	Process	Apoptotic DNA fragmentation	IEA
GO:0006310	Process	DNA recombination	TAS	18309324
GO:0006974	Process	DNA damage response	IMP	33473107
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	IMP	33473107
GO:0016787	Function	Hydrolase activity	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IMP	33473107
GO:0032043	Process	Mitochondrial DNA catabolic process	IMP	29719607
GO:0032355	Process	Response to estradiol	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034612	Process	Response to tumor necrosis factor	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0046677	Process	Response to antibiotic	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0090297	Process	Positive regulation of mitochondrial DNA replication	IMP	29719607
GO:1901300	Process	Positive regulation of hydrogen peroxide-mediated programmed cell death	IEA
GO:1902512	Process	Positive regulation of apoptotic DNA fragmentation	IEA

Other IDs

• MIM: 600440
• HGNC: 3346
• e!Ensembl: ENSG00000167136

Protein

• UniProt ID: Q14249
• Protein name: Endonuclease G, mitochondrial (Endo G) (EC 3.1.30.-)
• Protein function: Endonuclease that preferentially catalyzes the cleavage of double-stranded 5-hydroxymethylcytosine (5hmC)-modified DNA (PubMed:25355512). The 5hmC-modified nucleotide does not increase the binding affinity, but instead increases the efficiency o
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01223	Endonuclease_NS	60 → 285	DNA/RNA non-specific endonuclease	Domain

• Sequence:

  MRALRAGLTLASGAGLGAVVEGWRRRREDARAAPGLLGRLPVLPVAAAAELPPVPGGPRG
  PGELAKYGLPGLAQLKSRESYVLCYDPRTRGALWVVEQLRPERLRGDGDRRECDFREDDS
  VHAYHRATNADYRGSGFDRGHLAAAANHRWSQKAMDDTFYLSNVAPQVPHLNQNAWNNLE
  KYSRSLTRSYQNVYVCTGPLFLPRTEADGKSYVKYQVIGKNHVAVPTHFFKVLILEAAGG
  QIELRTYVMPNAPVDEAIPLERFLVPIESIERASGLLFVPNILARAGSLKAITAGSK

• Sequence length: 297

Pathways

KEGG:

Apoptosis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29102932		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33465003	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	35326425	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17471024		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28272306		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	37834200	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	37834200	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	17046751		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20162575		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20162575		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17043643		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18754329		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22826617		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	37569769	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18565644		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	19846952		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17046751		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33465003	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	35326425	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17384201		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17384201	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	17043643		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28272306		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18551145, 29217266, 31006104		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24129513		★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	35326425	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	16151635		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17050806		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36734593	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24129513		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	24631628	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18565644		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18565644	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	17050806		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	19574717	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24549171	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18705403		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27922685	Associate	★☆☆☆☆ Found in Text Mining only