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 by DNA polymerase gamma to initiate replication of mitochondrial DNA. [provided by RefSeq, Jul 2008] See more...

Aliases for ENDOG Gene

Aliases for ENDOG Gene

  • Endonuclease G 2 3 5
  • Endonuclease G, Mitochondrial 3 4
  • Endo G 3 4
  • Mitochondrial Endonuclease G 3
  • EC 3.1.30.- 4
  • ENDOG 5

External Ids for ENDOG Gene

Previous GeneCards Identifiers for ENDOG Gene

  • GC09P122695
  • GC09P123227
  • GC09P125034
  • GC09P126956
  • GC09P128660
  • GC09P130620
  • GC09P131580
  • GC09P101189

Summaries for ENDOG Gene

Entrez Gene Summary for ENDOG Gene

  • 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 by DNA polymerase gamma to initiate replication of mitochondrial DNA. [provided by RefSeq, Jul 2008]

GeneCards Summary for ENDOG Gene

ENDOG (Endonuclease G) is a Protein Coding gene. Diseases associated with ENDOG include Colorectal Cancer and Optic Atrophy 1. Among its related pathways are Granzyme Pathway and Apoptosis Modulation and Signaling. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and endonuclease activity. An important paralog of this gene is EXOG.

UniProtKB/Swiss-Prot Summary for ENDOG Gene

  • Cleaves DNA at double-stranded (DG)n.(DC)n and at single-stranded (DC)n tracts. In addition to deoxyribonuclease activities, also has ribonuclease (RNase) and RNase H activities. Capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA (By similarity).

Gene Wiki entry for ENDOG Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENDOG Gene

Genomics for ENDOG Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ENDOG Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENDOG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENDOG

Top Transcription factor binding sites by QIAGEN in the ENDOG gene promoter:
  • AML1a
  • C/EBPalpha
  • CUTL1
  • Elk-1
  • NF-1
  • NF-1/L
  • Pax-5
  • POU2F1
  • POU2F1a

Genomic Locations for ENDOG Gene

Latest Assembly
chr9:128,818,402-128,822,676
(GRCh38/hg38)
Size:
4,275 bases
Orientation:
Plus strand

Previous Assembly
chr9:131,580,779-131,584,955
(GRCh37/hg19 by Entrez Gene)
Size:
4,177 bases
Orientation:
Plus strand

chr9:131,580,753-131,584,956
(GRCh37/hg19 by Ensembl)
Size:
4,204 bases
Orientation:
Plus strand

Genomic View for ENDOG Gene

Genes around ENDOG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENDOG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENDOG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENDOG Gene

Proteins for ENDOG Gene

  • Protein details for ENDOG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14249-NUCG_HUMAN
    Recommended name:
    Endonuclease G, mitochondrial
    Protein Accession:
    Q14249
    Secondary Accessions:
    • Q5T281
    • Q9BSP2

    Protein attributes for ENDOG Gene

    Size:
    297 amino acids
    Molecular mass:
    32620 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • The active site contains 1 hydrated divalent metal cation that has only 1 direct interaction with the protein; all other interactions are via water molecules.

neXtProt entry for ENDOG Gene

Post-translational modifications for ENDOG Gene

  • Ubiquitination at Lys66, Lys76, Lys153, Lys210, and Lys214
  • Modification sites at PhosphoSitePlus

Other Protein References for ENDOG Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ENDOG Gene

Domains & Families for ENDOG Gene

Gene Families for ENDOG Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ENDOG Gene

Suggested Antigen Peptide Sequences for ENDOG Gene

GenScript: Design optimal peptide antigens:
  • Endonuclease G, mitochondrial (NUCG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14249

UniProtKB/Swiss-Prot:

NUCG_HUMAN :
  • Belongs to the DNA/RNA non-specific endonuclease family.
Family:
  • Belongs to the DNA/RNA non-specific endonuclease family.
genes like me logo Genes that share domains with ENDOG: view

Function for ENDOG Gene

Molecular function for ENDOG Gene

UniProtKB/Swiss-Prot Function:
Cleaves DNA at double-stranded (DG)n.(DC)n and at single-stranded (DC)n tracts. In addition to deoxyribonuclease activities, also has ribonuclease (RNase) and RNase H activities. Capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA (By similarity).
GENATLAS Biochemistry:
endonuclease G,involved in mitochondrial biogenesis

Enzyme Numbers (IUBMB) for ENDOG Gene

Phenotypes From GWAS Catalog for ENDOG Gene

Gene Ontology (GO) - Molecular Function for ENDOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 single-stranded DNA endodeoxyribonuclease activity IBA 21873635
GO:0003676 nucleic acid binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IBA 21873635
GO:0004521 endoribonuclease activity IBA 21873635
genes like me logo Genes that share ontologies with ENDOG: view
genes like me logo Genes that share phenotypes with ENDOG: view

Animal Models for ENDOG Gene

MGI Knock Outs for ENDOG:

miRNA for ENDOG Gene

miRTarBase miRNAs that target ENDOG

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENDOG

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ENDOG Gene

Localization for ENDOG Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENDOG Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENDOG gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ENDOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IBA 21873635
GO:0005829 cytosol IEA --
GO:0043204 perikaryon IEA --
genes like me logo Genes that share ontologies with ENDOG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ENDOG Gene

Pathways & Interactions for ENDOG Gene

PathCards logo

SuperPathways for ENDOG Gene

genes like me logo Genes that share pathways with ENDOG: view

Pathways by source for ENDOG Gene

1 KEGG pathway for ENDOG Gene
1 R&D Systems pathway for ENDOG Gene
3 Qiagen pathways for ENDOG Gene
  • Cellular Apoptosis Pathway
  • Granzyme-B Pathway
  • Mitochondrial Apoptosis
1 Cell Signaling Technology pathway for ENDOG Gene
1 GeneTex pathway for ENDOG Gene

SIGNOR curated interactions for ENDOG Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ENDOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006309 apoptotic DNA fragmentation IBA 21873635
GO:0006310 DNA recombination TAS 18309324
GO:0007568 aging IEA --
GO:0009612 response to mechanical stimulus IEA --
genes like me logo Genes that share ontologies with ENDOG: view

Drugs & Compounds for ENDOG Gene

(10) Drugs for ENDOG Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Manganese Approved Nutra 65

(3) Additional Compounds for ENDOG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ENDOG: view

Transcripts for ENDOG Gene

mRNA/cDNA for ENDOG Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENDOG

Alternative Splicing Database (ASD) splice patterns (SP) for ENDOG Gene

No ASD Table

Relevant External Links for ENDOG Gene

GeneLoc Exon Structure for
ENDOG

Expression for ENDOG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ENDOG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENDOG Gene

This gene is overexpressed in Muscle - Skeletal (x5.1).

Protein differential expression in normal tissues from HIPED for ENDOG Gene

This gene is overexpressed in Bone marrow stromal cell (11.9), Liver (11.7), Adrenal (6.2), and Fetal heart (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ENDOG Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENDOG

SOURCE GeneReport for Unigene cluster for ENDOG Gene:

Hs.745161

Evidence on tissue expression from TISSUES for ENDOG Gene

  • Nervous system(4.6)
  • Muscle(3.4)
  • Liver(2.6)
  • Heart(2.4)
  • Kidney(2.4)
  • Intestine(2.3)
  • Adrenal gland(2.2)
  • Blood(2.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with ENDOG: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENDOG Gene

Orthologs for ENDOG Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ENDOG Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ENDOG 29 30
  • 95.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ENDOG 29 30
  • 90.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ENDOG 29 30
  • 87.88 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Endog 29 16 30
  • 83.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Endog 29
  • 82.54 (n)
Oppossum
(Monodelphis domestica)
Mammalia ENDOG 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC100859613 29
  • 76.16 (n)
-- 30
  • 75 (a)
OneToMany
-- 30
  • 75 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia endog 29
  • 65.97 (n)
Zebrafish
(Danio rerio)
Actinopterygii endog 29 30
  • 63.48 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007845 29
  • 57.96 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta EndoG 29 30
  • 57.06 (n)
OneToOne
CG8862 31
  • 48 (a)
Worm
(Caenorhabditis elegans)
Secernentea cps-6 29 30 31
  • 52.96 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR144C 29
  • 53.46 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D00440g 29
  • 48.39 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NUC1 29 30 32
  • 48.34 (n)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU00030 29
  • 58.37 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pnu1 29
  • 47.42 (n)
Species where no ortholog for ENDOG was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ENDOG Gene

ENSEMBL:
Gene Tree for ENDOG (if available)
TreeFam:
Gene Tree for ENDOG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ENDOG: view image
Alliance of Genome Resources:
Additional Orthologs for ENDOG

Paralogs for ENDOG Gene

Paralogs for ENDOG Gene

(1) SIMAP similar genes for ENDOG Gene using alignment to 1 proteins:

  • NUCG_HUMAN
genes like me logo Genes that share paralogs with ENDOG: view

Variants for ENDOG Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENDOG Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs55985529 Benign: not provided 128,822,370(+) C/T
NM_004435.2(ENDOG):c.654C>T (p.Ile218=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs61737987 Benign: not provided 128,822,453(+) C/T
NM_004435.2(ENDOG):c.737C>T (p.Thr246Ile)
MISSENSE_VARIANT,THREE_PRIME_UTR
rs61737988 Benign: not provided 128,822,450(+) G/T
NM_004435.2(ENDOG):c.734G>T (p.Arg245Leu)
MISSENSE_VARIANT,THREE_PRIME_UTR
rs757963132 Likely Benign: not provided 128,818,894(+) G/C
NM_004435.2(ENDOG):c.210G>C (p.Pro70=)
SYNONYMOUS
rs864309587 Benign: not specified 128,822,601(+) CAGTA/C
NM_004435.2(ENDOG):c.889_892del (p.Lys297fs)
FRAMESHIFT_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ENDOG Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ENDOG Gene

Variant ID Type Subtype PubMed ID
nsv521120 CNV loss 19592680
nsv615411 CNV loss 21841781
nsv615412 CNV loss 21841781

Variation tolerance for ENDOG Gene

Gene Damage Index Score: 1.97; 36.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENDOG Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENDOG
Leiden Open Variation Database (LOVD)
ENDOG

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENDOG Gene

Disorders for ENDOG Gene

MalaCards: The human disease database

(3) MalaCards diseases for ENDOG Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search ENDOG in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ENDOG

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ENDOG: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENDOG Gene

Publications for ENDOG Gene

  1. Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis. (PMID: 7789991) Tiranti V … Zeviani M (Genomics 1995) 2 3 4 22
  2. Role of endonuclease G in senescence-associated cell death of human endothelial cells. (PMID: 20211237) Diener T … Jansen-Dürr P (Experimental gerontology 2010) 3 22
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  4. EGCG induces apoptosis in human laryngeal epidermoid carcinoma Hep2 cells via mitochondria with the release of apoptosis-inducing factor and endonuclease G. (PMID: 19781850) Lee JH … Jung JY (Cancer letters 2010) 3 22
  5. Mutagenesis identifies the critical amino acid residues of human endonuclease G involved in catalysis, magnesium coordination, and substrate specificity. (PMID: 19272175) Wu SL … Hsiang CY (Journal of biomedical science 2009) 3 22

Products for ENDOG Gene

Sources for ENDOG Gene