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

Gene ID: 50776, updated on 21-Apr-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; mitochondrion organization; and respiratory electron transport chain. Located in mitochondrion. Is expressed in early conceptus and secondary oocyte. Human ortholog(s) of this gene implicated in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 and mitochondrial DNA depletion syndrome. Orthologous to human POLG2 (DNA polymerase gamma 2, accessory subunit). [provided by Alliance of Genome Resources, Apr 2022]
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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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
  • 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. 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
  4. 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
  5. 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

See all (21) 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 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-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 ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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 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
  
located_in mitochondrial matrix ISO
Inferred from Sequence Orthology
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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