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EXOG exo/endonuclease G [ Homo sapiens (human) ]

Gene ID: 9941, updated on 14-Nov-2024

Summary

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Official Symbol
EXOGprovided by HGNC
Official Full Name
exo/endonuclease Gprovided by HGNC
Primary source
HGNC:HGNC:3347
See related
Ensembl:ENSG00000157036 MIM:604051; AllianceGenome:HGNC:3347
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ENGL; ENGLA; ENGLB; ENGL-a; ENGL-b; ENDOGL1; ENDOGL2
Summary
This gene encodes an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq, Feb 2009]
Expression
Ubiquitous expression in heart (RPKM 2.2), lymph node (RPKM 1.6) and 25 other tissues See more
Orthologs
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Genomic context

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See EXOG in Genome Data Viewer
Location:
3p22.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (38496340..38526303)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (38489424..38532347)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38537831..38567794)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38388053-38388884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38388885-38389716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38415461-38415962 Neighboring gene xylulokinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38447285-38447785 Neighboring gene MPRA-validated peak4613 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38494963-38495462 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38496067-38496650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14212 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:38496651-38497235 Neighboring gene ACVR2B antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:38518043-38518542 Neighboring gene activin A receptor type 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19686 Neighboring gene VISTA enhancer hs2266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38583605-38584141 Neighboring gene VISTA enhancer hs2267 Neighboring gene ribosomal protein L18a pseudogene 7 Neighboring gene DDT pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38589324-38590114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38590115-38590903 Neighboring gene sodium voltage-gated channel alpha subunit 5 Neighboring gene VISTA enhancer hs2177 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:38623245-38624228 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:38656451-38656951 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:38666894-38667075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38669791-38670290 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:38682299-38683042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38684220-38684730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38684731-38685239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14214

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Human EXOG Possesses Strong AP Hydrolysis Activity: Implication on Mitochondrial DNA Base Excision Repair. Szymanski MR, et al. J Am Chem Soc, 2022 Dec 28. PMID 36516439, Free PMC Article
  2. In vitro reconstitution reveals a key role of human mitochondrial EXOG in RNA primer processing. Karlowicz A, et al. Nucleic Acids Res, 2022 Aug 12. PMID 35819194, Free PMC Article
  3. Genetic association of single nucleotide polymorphisms in endonuclease G-like 1 gene with type 2 diabetes in a Japanese population. Moritani M, et al. Diabetologia, 2007 Jun. PMID 17415550
  4. Apoptosis induced by persistent single-strand breaks in mitochondrial genome: critical role of EXOG (5'-EXO/endonuclease) in their repair. Tann AW, et al. J Biol Chem, 2011 Sep 16. PMID 21768646, Free PMC Article
  5. A domain in human EXOG converts apoptotic endonuclease to DNA-repair exonuclease. Szymanski MR, et al. Nat Commun, 2017 May 3. PMID 28466855, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Human EXOG Possesses Strong AP Hydrolysis Activity: Implication on Mitochondrial DNA Base Excision Repair.
    Title: Human EXOG Possesses Strong AP Hydrolysis Activity: Implication on Mitochondrial DNA Base Excision Repair.
  2. In vitro reconstitution reveals a key role of human mitochondrial EXOG in RNA primer processing.
    Title: In vitro reconstitution reveals a key role of human mitochondrial EXOG in RNA primer processing.
  3. ExoG has a role as a unique 5'-exonuclease to mediate the flap-independent RNA primer removal process during mtDNA replication to maintain mitochondrial genome integrity
    Title: A unique exonuclease ExoG cleaves between RNA and DNA in mitochondrial DNA replication.
  4. Data suggest a role of exo/endonuclease G nuclease (hEXOG) in pathway for mitochondrial DNA repair.
    Title: A domain in human EXOG converts apoptotic endonuclease to DNA-repair exonuclease.
  5. These data indicate that HSV-1 UL12.5 deploys cellular proteins, including ENDOG and EXOG, to destroy mtDNA and contribute to a growing body of literature highlighting roles for ENDOG and EXOG in mtDNA maintenance.
    Title: Mitochondrial nucleases ENDOG and EXOG participate in mitochondrial DNA depletion initiated by herpes simplex virus 1 UL12.5.
  6. EXOG depletion induces persistent SSBs in the mtDNA, enhances ROS levels, and causes apoptosis in normal cells but not in mt genome-deficient rho0 cells.
    Title: Apoptosis induced by persistent single-strand breaks in mitochondrial genome: critical role of EXOG (5'-EXO/endonuclease) in their repair.
  7. Human endonuclease G-like-1 is a dimeric mitochondrial enzyme that displays 5'-3' exonuclease activity and further differs from EndoG in substrate specificity
    Title: EXOG, a novel paralog of Endonuclease G in higher eukaryotes.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  9. ENDOGL1 is a candidate disease-susceptibility gene for type 2 diabetes in a Japanese population
    Title: Genetic association of single nucleotide polymorphisms in endonuclease G-like 1 gene with type 2 diabetes in a Japanese population.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic determinants of P wave duration and PR segment.
EBI GWAS Catalog
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC125944, MGC125945

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 5'-3' exonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 5'-3' exonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA endonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables endonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables endonuclease activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-stranded DNA endodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in apoptotic DNA fragmentation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
nuclease EXOG, mitochondrial
Names
endo G-like 1
endo/exonuclease (5'-3'), endonuclease G-like
endonuclease G-like 1
endonuclease G-like 2
NP_001138936.1
NP_005098.2
XP_047305328.1
XP_047305329.1
XP_047305330.1
XP_047305331.1
XP_047305332.1
XP_047305333.1
XP_047305334.1
XP_047305335.1
XP_047305336.1
XP_054204629.1
XP_054204630.1
XP_054204631.1
XP_054204632.1
XP_054204633.1
XP_054204634.1
XP_054204635.1
XP_054204636.1
XP_054204637.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001145464.2 → NP_001138936.1  nuclease EXOG, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001138936.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AA993872, AB020523, AK290107, AK301067, AP006241
    Consensus CDS
    CCDS46795.1
    UniProtKB/TrEMBL
    B3KN09
    Related
    ENSP00000404305.2, ENST00000422077.6
    Conserved Domains (1) summary
    smart00477
    Location:48 → 236
    NUC; DNA/RNA non-specific endonuclease

  2. NM_005107.4 → NP_005098.2  nuclease EXOG, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_005098.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AA993872, AB020523, AK290107, AK301067, AP006241
    Consensus CDS
    CCDS2680.1
    UniProtKB/Swiss-Prot
    A8K242, B4DVG2, Q3SXM9, Q9Y2C4, Q9Y2C8
    UniProtKB/TrEMBL
    B3KN09
    Related
    ENSP00000287675.5, ENST00000287675.10
    Conserved Domains (1) summary
    smart00477
    Location:77 → 286
    NUC; DNA/RNA non-specific endonuclease

RNA

  1. NR_134938.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK290107, AK308814, AP006241, W58006

  2. NR_153322.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP006241

  3. NR_153323.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP006241

  4. NR_153324.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP006241

  5. NR_153325.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP006241

  6. NR_153326.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP006241

  7. NR_153327.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP006241

  8. NR_153328.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP006241

  9. NR_153329.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP006241

  10. NR_153330.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP006241

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    38496340..38526303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449374.1 → XP_047305330.1  nuclease EXOG, mitochondrial isoform X2

  2. XM_047449372.1 → XP_047305328.1  nuclease EXOG, mitochondrial isoform X1

  3. XM_047449375.1 → XP_047305331.1  nuclease EXOG, mitochondrial isoform X2

  4. XM_047449373.1 → XP_047305329.1  nuclease EXOG, mitochondrial isoform X1

  5. XM_047449376.1 → XP_047305332.1  nuclease EXOG, mitochondrial isoform X2

  6. XM_047449377.1 → XP_047305333.1  nuclease EXOG, mitochondrial isoform X2

  7. XM_047449378.1 → XP_047305334.1  nuclease EXOG, mitochondrial isoform X2

  8. XM_047449379.1 → XP_047305335.1  nuclease EXOG, mitochondrial isoform X2

  9. XM_047449380.1 → XP_047305336.1  nuclease EXOG, mitochondrial isoform X2

RNA

  1. XR_940530.4 RNA Sequence

  2. XR_940529.4 RNA Sequence

  3. XR_940528.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    38489424..38532347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348656.1 → XP_054204631.1  nuclease EXOG, mitochondrial isoform X2

  2. XM_054348655.1 → XP_054204630.1  nuclease EXOG, mitochondrial isoform X1

  3. XM_054348657.1 → XP_054204632.1  nuclease EXOG, mitochondrial isoform X2

  4. XM_054348658.1 → XP_054204633.1  nuclease EXOG, mitochondrial isoform X2

  5. XM_054348659.1 → XP_054204634.1  nuclease EXOG, mitochondrial isoform X2

  6. XM_054348662.1 → XP_054204637.1  nuclease EXOG, mitochondrial isoform X3

  7. XM_054348654.1 → XP_054204629.1  nuclease EXOG, mitochondrial isoform X1

  8. XM_054348660.1 → XP_054204635.1  nuclease EXOG, mitochondrial isoform X2

  9. XM_054348661.1 → XP_054204636.1  nuclease EXOG, mitochondrial isoform X2

RNA

  1. XR_008486876.1 RNA Sequence

  2. XR_008486875.1 RNA Sequence

  3. XR_008486874.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001318954.1: Suppressed sequence

    Description
    NM_001318954.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.

  2. NM_001318955.1: Suppressed sequence

    Description
    NM_001318955.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.

  3. NM_001318956.1: Suppressed sequence

    Description
    NM_001318956.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.

  4. NM_001318957.1: Suppressed sequence

    Description
    NM_001318957.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.

  5. NM_001318958.1: Suppressed sequence

    Description
    NM_001318958.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.

  6. NM_001318959.1: Suppressed sequence

    Description
    NM_001318959.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2C4.2 GenPept UniProtKB/Swiss-Prot:Q9Y2C4

Gene LinkOut

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