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Aliases for ENDOG Gene

Aliases for ENDOG Gene

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

Additional gene information for ENDOG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENDOG Gene

Genomics for ENDOG Gene

GeneHancer (GH) Regulatory Elements for ENDOG Gene

Promoters and enhancers for ENDOG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J128817 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.3 313 1.8 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ENDOG NAIF1 NUP188 SPOUT1 GLE1 ODF2 TOR1B TBC1D13 URM1 CIZ1
GH09J128819 Enhancer 0.7 ENCODE 656.1 +1.4 1446 0.2 HDGF HDAC1 MEIS2 PKNOX1 ZIC2 BCL11B E2F1 POLR2A PATZ1 VEZF1 ENDOG UBE2V1P4 ENSG00000230848 PIR42960 SPOUT1
GH09J128877 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6.2 +64.9 64873 12.3 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 E2F8 KYAT1 LRRC8A NUP188 NAIF1 GLE1 SPOUT1 PHYHD1 TOR1B DOLK PKN3
GH09J128828 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 6.2 +11.1 11075 1.9 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 FOS SPOUT1 ODF2 NUP188 CIZ1 GOLGA2 PKN3 LOC101929314 SLC25A25-AS1 TOR1B ENSG00000272696
GH09J129172 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 5.2 +357.3 357349 7.5 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC PPARGC1A SSRP1 ENSG00000268050 LOC105376289 NUP188 CIZ1 ODF2 GLE1 CRAT SPOUT1 UBE2V1P4 ENSG00000272593
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ENDOG Gene

Genomic Locations for ENDOG Gene
chr9:128,818,411-128,822,678
(GRCh38/hg38)
Size:
4,268 bases
Orientation:
Plus strand
chr9:131,580,753-131,584,956
(GRCh37/hg19)
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; 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 Lys214, isoforms=210, isoforms=153, Lys76, and Lys66
  • 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 secreted proteins

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

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:0003676 nucleic acid binding IEA --
GO:0004518 nuclease activity IEA,IBA --
GO:0004519 endonuclease activity IEA --
GO:0004536 deoxyribonuclease activity IEA --
GO:0005515 protein binding IPI 25036637
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

Clone Products

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
endoplasmic reticulum 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ENDOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IEA --
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

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

Pathways by source for ENDOG Gene

1 GeneTex pathway for ENDOG Gene
1 KEGG pathway for ENDOG Gene
1 R&D Systems pathway for ENDOG Gene
1 Cell Signaling Technology 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:0000737 DNA catabolic process, endonucleolytic IBA --
GO:0001701 in utero embryonic development IEA --
GO:0006309 apoptotic DNA fragmentation IBA --
GO:0006310 DNA recombination TAS 18309324
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with ENDOG: view

Drugs & Compounds for ENDOG Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
Manganese Approved Nutra 37

(4) 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of ENDOG Gene:

ENDOG

SOURCE GeneReport for Unigene cluster for ENDOG Gene:

Hs.745161

Evidence on tissue expression from TISSUES for ENDOG Gene

  • Nervous system(4.5)
  • Muscle(3)
  • Liver(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 34 33
  • 95.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ENDOG 34 33
  • 90.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ENDOG 34 33
  • 87.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Endog 16 34 33
  • 83.9 (n)
rat
(Rattus norvegicus)
Mammalia Endog 33
  • 82.54 (n)
oppossum
(Monodelphis domestica)
Mammalia ENDOG 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENDOG 33
  • 76.16 (n)
-- 34
  • 75 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia endog 33
  • 65.97 (n)
zebrafish
(Danio rerio)
Actinopterygii endog 34 33
  • 63.48 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007845 33
  • 57.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta EndoG 34 33
  • 57.06 (n)
OneToOne
CG8862 35
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea cps-6 34 35 33
  • 52.96 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR144C 33
  • 53.46 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D00440g 33
  • 48.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NUC1 36 34 33
  • 48.34 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00030 33
  • 58.37 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pnu1 33
  • 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 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)
Aminode:
Evolutionary constrained regions (ECRs) for ENDOG: view image

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 from dbSNP and Humsavar for ENDOG Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs864309587 benign, not specified 128,822,602(+) AGTAAGT/AGT 3_prime_UTR_variant, frameshift, terminator_codon_variant
rs1000377291 -- 128,819,721(+) A/C intron_variant
rs1000742076 -- 128,819,925(+) C/T intron_variant
rs1002121987 -- 128,817,105(+) A/G upstream_transcript_variant
rs1002880121 -- 128,819,336(+) C/T intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Additional Disease Information for ENDOG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. 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 58
  4. 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 58
  5. 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 : an international journal on programmed cell death 2009) 3 22 58

Products for ENDOG Gene

Sources for ENDOG Gene

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