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    Polg2 polymerase (DNA directed), gamma 2, accessory subunit [ Mus musculus (house mouse) ]

    Gene ID: 50776, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Polg2provided by MGI
    Official Full Name
    polymerase (DNA directed), gamma 2, accessory subunitprovided by MGI
    Primary source
    MGI:MGI:1354947
    See related
    Ensembl:ENSMUSG00000020718 AllianceGenome:MGI:1354947
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    p55; mtPolB; polG-beta
    Summary
    Enables DNA-directed DNA polymerase activity and identical protein binding activity. Acts upstream of or within in utero embryonic development and mitochondrial DNA replication. Located in mitochondrion. Is expressed in early conceptus and secondary oocyte. Used to study nephrocalcinosis. Human ortholog(s) of this gene implicated in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4; mitochondrial DNA depletion syndrome 16; and mitochondrial DNA depletion syndrome 16B. Orthologous to human POLG2 (DNA polymerase gamma 2, accessory subunit). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon adult (RPKM 3.3), duodenum adult (RPKM 3.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Polg2 in Genome Data Viewer
    Location:
    11 E1; 11 70.01 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (106659030..106670363, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (106768204..106779537, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene platelet/endothelial cell adhesion molecule 1 Neighboring gene STARR-positive B cell enhancer ABC_E1150 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:106535909-106536110 Neighboring gene STARR-seq mESC enhancer starr_30943 Neighboring gene STARR-seq mESC enhancer starr_30946 Neighboring gene predicted gene, 51950 Neighboring gene STARR-positive B cell enhancer ABC_E10724 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:106611859-106612059 Neighboring gene STARR-positive B cell enhancer ABC_E5289 Neighboring gene STARR-positive B cell enhancer ABC_E4006 Neighboring gene mast cell immunoglobulin like receptor 1 Neighboring gene STARR-seq mESC enhancer starr_30947 Neighboring gene STARR-seq mESC enhancer starr_30948 Neighboring gene microRNA 3064 Neighboring gene DEAD box helicase 5 Neighboring gene centrosomal protein 95

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice. Gorvin CM, et al. J Bone Miner Res, 2019 Mar. PMID 30395686, Free PMC Article
    2. Crystal structure and deletion analysis show that the accessory subunit of mammalian DNA polymerase gamma, Pol gamma B, functions as a homodimer. Carrodeguas JA, et al. Mol Cell, 2001 Jan. PMID 11172710
    3. Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase. Carrodeguas JA, et al. Nucleic Acids Res, 2000 Mar 1. PMID 10666468, Free PMC Article
    4. Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance. Humble MM, et al. Hum Mol Genet, 2013 Mar 1. PMID 23197651, Free PMC Article
    5. Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element. Jemt E, et al. Nucleic Acids Res, 2015 Oct 30. PMID 26253742, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. studies have identified a mutant mouse model for inherited renal calcification associated with a Polg2 nonsense mutation.
      Title: An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.
    2. Our data indicate that Polg2 function is critical to mammalian embryogenesis and mtDNA replication, and that a single copy of Polg2 is sufficient to sustain life.
      Title: Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Potential readthrough

    Included gene: Pecam1

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA polymerase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA polymerase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA polymerase processivity factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA polymerase processivity factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-directed DNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-directed DNA polymerase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables double-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA repair TAS
    Traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within DNA replication IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in DNA-templated DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mitochondrial DNA metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mitochondrial DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-directed DNA polymerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-directed DNA polymerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of gamma DNA polymerase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of gamma DNA polymerase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial nucleoid IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial nucleoid ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DNA polymerase subunit gamma-2
    Names
    DNA polymerase gamma accessory 55 kDa subunit
    DNA polymerase subunit gamma-2, mitochondrial
    mitochondrial DNA polymerase accessory subunit
    mitochondrial polymerase gamma 2
    NP_056625.2

    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_001353435.1 → NP_001340364.1  DNA polymerase subunit gamma-2 isoform 1b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents a different allele at rs27039937 and encode a protein (1b) not encoded by the C57BL/6 reference assembly.
      Source sequence(s)
      BC119131
      UniProtKB/TrEMBL
      Q0VES3, Q3V3E7
      Conserved Domains (2) summary
      cd00774
      Location:43 → 324
      GlyRS-like_core; Glycyl-tRNA synthetase (GlyRS)-like class II core catalytic domain. GlyRS functions as a homodimer in eukaryotes, archaea and some bacteria and as a heterotetramer in the remainder of prokaryotes. It is responsible for the attachment of glycine to the 3' ...
      cd02426
      Location:328 → 455
      Pol_gamma_b_Cterm; C-terminal domain of mitochondrial DNA polymerase gamma B subunit, which is required for processivity. Polymerase gamma replicates and repairs mitochondrial DNA. The c-terminal domain of its B subunit is strikingly similar to the anticodon-binding domain ...

    2. NM_015810.2 → NP_056625.2  DNA polymerase subunit gamma-2 isoform 1a

      See identical proteins and their annotated locations for NP_056625.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein (1a) encoded by the C57BL/6 reference assembly.
      Source sequence(s)
      AK041591, AL603664, BE853186
      Consensus CDS
      CCDS25561.1
      UniProtKB/Swiss-Prot
      B1ARB5, O35614, Q9QZM2
      UniProtKB/TrEMBL
      Q3V3E7
      Related
      ENSMUSP00000021060.6, ENSMUST00000021060.6
      Conserved Domains (3) summary
      PRK04173
      Location:41 → 453
      PRK04173; glycyl-tRNA synthetase; Provisional
      cd00774
      Location:43 → 324
      GlyRS-like_core; Glycyl-tRNA synthetase (GlyRS)-like class II core catalytic domain. GlyRS functions as a homodimer in eukaryotes, archaea and some bacteria and as a heterotetramer in the remainder of prokaryotes. It is responsible for the attachment of glycine to the 3' ...
      cd02426
      Location:328 → 455
      Pol_gamma_b_Cterm; C-terminal domain of mitochondrial DNA polymerase gamma B subunit, which is required for processivity. Polymerase gamma replicates and repairs mitochondrial DNA. The c-terminal domain of its B subunit is strikingly similar to the anticodon-binding domain ...

    RNA

    1. NR_027785.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL603664

    2. NR_148430.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL603664
      Related
      ENSMUST00000127061.8

    3. NR_148431.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK042777, AL603664
      Related
      ENSMUST00000155107.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      106659030..106670363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9QZM2.2 GenPept UniProtKB/Swiss-Prot:Q9QZM2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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