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

    Gene ID: 9941, updated on 27-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
    mouse all
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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
    • 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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