• Gene id: 2021

Gene Summary

• Gene Symbol: ENDOG   Gene   UCSC   Ensembl
• Gene name: endonuclease G
• Alternate names: endonuclease G, mitochondrial, endo G, mitochondrial endonuclease G,
• Gene location: 9q34.11 (25232501: 25222275)     Exons: 7     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 600440

Protein Summary

• Protein general information: Q14249  
  • Name: Endonuclease G, mitochondrial (Endo G) (EC 3.1.30. )
  • Length: 297  
  • Mass: 32620
• Sequence:

  MRALRAGLTLASGAGLGAVVEGWRRRREDARAAPGLLGRLPVLPVAAAAELPPVPGGPRGPGELAKYGLPGLAQL
  KSRESYVLCYDPRTRGALWVVEQLRPERLRGDGDRRECDFREDDSVHAYHRATNADYRGSGFDRGHLAAAANHRW
  SQKAMDDTFYLSNVAPQVPHLNQNAWNNLEKYSRSLTRSYQNVYVCTGPLFLPRTEADGKSYVKYQVIGKNHVAV
  PTHFFKVLILEAAGGQIELRTYVMPNAPVDEAIPLERFLVPIESIERASGLLFVPNILARAGSLKAITAGSK

• Structural information:
  • Interpro: IPR018524  IPR001604  IPR020821  IPR040255  
  • Prosite: PS01070
  • STRING: ENSP00000361725
• Other Databases: GeneCards:  ENDOG  Malacards:  ENDOG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006309	apoptotic DNA fragmentation	IBA	biological process
GO:0004521	endoribonuclease activity	IBA	molecular function
GO:0004519	endonuclease activity	IBA	molecular function
GO:0004518	nuclease activity	IBA	molecular function
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000737	DNA catabolic process, endonucleolytic	IBA	biological process
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	IBA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043204	perikaryon	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004536	deoxyribonuclease activity	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:1902512	positive regulation of apoptotic DNA fragmentation	IEA	biological process
GO:1901300	positive regulation of hydrogen peroxide-mediated programmed cell death	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0071277	cellular response to calcium ion	IEA	biological process
GO:0036475	neuron death in response to oxidative stress	IEA	biological process
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0046677	response to antibiotic	IEA	biological process
GO:0034612	response to tumor necrosis factor	IEA	biological process
GO:0006309	apoptotic DNA fragmentation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0006310	DNA recombination	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray