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Aliases for ENDOG Gene

Aliases for ENDOG Gene

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

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 Leber Hereditary Optic Neuropathy. Among its related pathways are Apoptosis Modulation and Signaling and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include nucleic acid binding and endonuclease activity. An important paralog of this gene is EXOG.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENDOG Gene

Genomics for ENDOG Gene

Regulatory Elements for ENDOG Gene

Enhancers for ENDOG Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ENDOG on UCSC Golden Path with GeneCards custom track

Promoters for ENDOG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ENDOG on UCSC Golden Path with GeneCards custom track

Genomic Location for ENDOG Gene

Chromosome:
9
Start:
128,818,411 bp from pter
End:
128,822,678 bp from pter
Size:
4,268 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; 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

Proteomics data for ENDOG Gene at MOPED

Post-translational modifications for ENDOG Gene

  • Ubiquitination at Lys 66, Lys 76, Lys 153, Lys 210, and Lys 214
  • Modification sites at PhosphoSitePlus

Other Protein References for ENDOG Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ENDOG (ENDOG)

No data available for DME Specific Peptides for ENDOG Gene

Domains & Families for ENDOG Gene

Suggested Antigen Peptide Sequences for ENDOG Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for ENDOG Gene

Function for ENDOG Gene

Molecular function for ENDOG Gene

GENATLAS Biochemistry:
endonuclease G,involved in mitochondrial biogenesis
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).

Enzyme Numbers (IUBMB) for ENDOG Gene

Gene Ontology (GO) - Molecular Function for ENDOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
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:

Animal Model Products

miRNA for ENDOG Gene

miRTarBase miRNAs that target 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
Jensen Localization Image for ENDOG Gene COMPARTMENTS Subcellular localization image for ENDOG gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 4
endoplasmic reticulum 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ENDOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with ENDOG: view

Pathways & Interactions for ENDOG Gene

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

Pathways by source for ENDOG Gene

1 GeneTex pathway for ENDOG Gene
1 Cell Signaling Technology pathway for ENDOG Gene
1 BioSystems pathway for ENDOG Gene
1 KEGG pathway for ENDOG Gene
1 R&D Systems 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:0006309 apoptotic DNA fragmentation IEA,IBA --
GO:0034599 cellular response to oxidative stress IEA --
GO:0034612 response to tumor necrosis factor IEA --
GO:0036475 neuron death in response to oxidative stress IEA --
GO:0043065 positive regulation of apoptotic process IEA --
genes like me logo Genes that share ontologies with ENDOG: view

Drugs & Compounds for ENDOG Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Pharma 32
Magnesium Nutra 0

(6) 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

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(102) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ENDOG Gene

Endonuclease G:
Representative Sequences:

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

No ASD Table

Relevant External Links for ENDOG Gene

GeneLoc Exon Structure for
ENDOG
ECgene alternative splicing isoforms for
ENDOG

Expression for ENDOG Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ENDOG Gene



SOURCE GeneReport for Unigene cluster for ENDOG Gene Hs.745161

genes like me logo Genes that share expression patterns with ENDOG: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia ENDOG 35
  • 87.88 (n)
  • 91.25 (a)
ENDOG 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENDOG 35
  • 90.37 (n)
  • 95.31 (a)
ENDOG 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Endog 35
  • 83.9 (n)
  • 88.78 (a)
Endog 16
Endog 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ENDOG 35
  • 95.24 (n)
  • 94.12 (a)
ENDOG 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Endog 35
  • 82.54 (n)
  • 87.76 (a)
oppossum
(Monodelphis domestica)
Mammalia ENDOG 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENDOG 35
  • 76.16 (n)
  • 76.61 (a)
-- 36
  • 75 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia endog 35
  • 65.97 (n)
  • 67.94 (a)
zebrafish
(Danio rerio)
Actinopterygii endog 35
  • 63.48 (n)
  • 67.24 (a)
endog 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8862 37
  • 48 (a)
EndoG 35
  • 57.06 (n)
  • 50.89 (a)
EndoG 36
  • 45 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007845 35
  • 57.96 (n)
  • 56.31 (a)
worm
(Caenorhabditis elegans)
Secernentea cps-6 37
  • 48 (a)
cps-6 35
  • 52.96 (n)
  • 50.47 (a)
cps-6 36
  • 37 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR144C 35
  • 53.46 (n)
  • 46.23 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D00440g 35
  • 48.39 (n)
  • 45.16 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NUC1 35
  • 48.34 (n)
  • 45.5 (a)
NUC1 36
  • 32 (a)
OneToMany
NUC1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU00030 35
  • 58.37 (n)
  • 49.3 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pnu1 35
  • 47.42 (n)
  • 43.64 (a)
Species with no ortholog for ENDOG:
  • 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 squirt (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)

Paralogs for ENDOG Gene

Paralogs for ENDOG Gene

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

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

Variants for ENDOG Gene

Sequence variations from dbSNP and Humsavar for ENDOG Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs2293969 - 128,818,719(-) CGCCC(A/G)ACGCC reference, missense
rs113243915 -- 128,816,929(+) AATTT(A/G)AAAGT upstream-variant-2KB
rs113617916 -- 128,818,000(+) CTACT(G/T)GGGAG upstream-variant-2KB
rs117520344 -- 128,817,237(+) AAAAG(C/T)ACAAA upstream-variant-2KB
rs192061368 -- 128,818,001(+) TACTT(G/T)GGAGG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv893901 CNV Loss 21882294
nsv893902 CNV Gain 21882294
dgv8296n71 CNV Loss 21882294
nsv521120 CNV Loss 19592680
dgv8297n71 CNV Loss 21882294

Variation tolerance for ENDOG Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ENDOG Gene

Disorders for ENDOG Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENDOG Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leber hereditary optic neuropathy
  • leber optic atrophy
- elite association - COSMIC cancer census association via MalaCards
Search ENDOG in MalaCards View complete list of genes associated with diseases

Relevant External Links for ENDOG

Genetic Association Database (GAD)
ENDOG
Human Genome Epidemiology (HuGE) Navigator
ENDOG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENDOG
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 23 67
  2. 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 J.H. … Jung J.Y. (Cancer Lett. 2010) 3 23
  3. Role of endonuclease G in senescence-associated cell death of human endothelial cells. (PMID: 20211237) Diener T. … Jansen-DA1rr P. (Exp. Gerontol. 2010) 3 23
  4. Induction of apoptosis of detached oral squamous cell carcinoma cells by safingol. Possible role of Bim, focal adhesion kinase and endonuclease G. (PMID: 19199036) Noda T. … Yura Y. (Apoptosis 2009) 3 23
  5. Mutagenesis identifies the critical amino acid residues of human endonuclease G involved in catalysis, magnesium coordination, and substrate specificity. (PMID: 19272175) Wu S.L. … Hsiang C.Y. (J. Biomed. Sci. 2009) 3 23

Products for ENDOG Gene

Sources for ENDOG Gene

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