U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

    POLG2 DNA polymerase gamma 2, accessory subunit [ Homo sapiens (human) ]

    Gene ID: 11232, updated on 14-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    POLG2provided by HGNC
    Official Full Name
    DNA polymerase gamma 2, accessory subunitprovided by HGNC
    Primary source
    HGNC:HGNC:9180
    See related
    Ensembl:ENSG00000256525 MIM:604983; AllianceGenome:HGNC:9180
    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
    HP55; POLB; PEOA4; POLGB; MTPOLB; MTDPS16; MTDPS16A; MTDPS16B; POLG-BETA
    Summary
    This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
    Expression
    Broad expression in testis (RPKM 7.8), lymph node (RPKM 4.4) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    17q23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (64477785..64497054, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (65347539..65366810, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62473902..62493172, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 57 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62398397-62398608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12589 Neighboring gene platelet and endothelial cell adhesion molecule 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12592 Neighboring gene mast cell immunoglobulin like receptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62469307-62469807 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62486099-62486273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62492349-62493208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12594 Neighboring gene ATP synthase membrane subunit f pseudogene 4 Neighboring gene microRNA 3064 Neighboring gene microRNA 5047 Neighboring gene DEAD-box helicase 5

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. Hoff KE, et al. PLoS One, 2018. PMID 30157269, Free PMC Article
    2. Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. Varma H, et al. Eur J Med Genet, 2016 Oct. PMID 27592148, Free PMC Article
    3. A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits. Craig K, et al. Mitochondrion, 2012 Mar. PMID 22155748, Free PMC Article
    4. A polymorphism of the POLG2 gene is genetically associated with the invasiveness of urinary bladder cancer in Japanese males. Ratanajaraya C, et al. J Hum Genet, 2011 Aug. PMID 21734712
    5. Biochemical analysis of human POLG2 variants associated with mitochondrial disease. Young MJ, et al. Hum Mol Genet, 2011 Aug 1. PMID 21555342, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
      Title: POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
    2. Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA.
      Title: Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA.
    3. The accessory subunit of human DNA polymerase gamma is required for mitochondrial DNA maintenance and is able to stabilize the catalytic subunit.
      Title: The accessory subunit of human DNA polymerase γ is required for mitochondrial DNA maintenance and is able to stabilize the catalytic subunit.
    4. Consequences of compromised mitochondrial genome integrity.
      Title: Consequences of compromised mitochondrial genome integrity.
    5. Compared to control fibroblasts, homozygous R182W p55 primary dermal fibroblasts exhibit a two-fold slower doubling time, reduced mtDNA copy number and reduced levels of POLG and POLG2 transcripts correlating with the reported disease state. Expression of R182W p55 in HEK293 cells impairs oxidative-phosphorylation. Biochemically, R182W p55 displays DNA binding and association with p140 similar to WT p55.
      Title: Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
    6. This is the first report of a patient with a homozygous mutation in POLG2 and with a clinical presentation of severe hepatic failure and mitochondrial depletion.
      Title: Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
    7. Results show that polymorphisms at POLG2 and POLRMT increased risk of oral cancer and leukoplakia, respectively, probably modulating synthesis and activity of the enzymes.
      Title: Association of DNA sequence variation in mitochondrial DNA polymerase with mitochondrial DNA synthesis and risk of oral cancer.
    8. Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function.
      Title: Mitochondrial DNA content contributes to healthy aging in Chinese: a study from nonagenarians and centenarians.
    9. The authors describe the molecular characterization of a potential dominant POLG2 mutation (p.R369G) in a patient with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions.
      Title: A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.
    10. Data show that rs17650301 in POLG2 is a good candidate marker for UBC invasiveness in Japanese males.
      Title: A polymorphism of the POLG2 gene is genetically associated with the invasiveness of urinary bladder cancer in Japanese males.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables DNA polymerase processivity factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-directed DNA polymerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 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
    		  
    involved_in DNA-templated DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial DNA replication IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mitochondrial DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-directed DNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of gamma DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of gamma DNA polymerase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    DNA polymerase subunit gamma-2; DNA polymerase subunit gamma-2, mitochondrial
    Names
    DNA polymerase gamma accessory 55 kDa subunit
    mitochondrial DNA polymerase subunit gamma-2
    mitochondrial DNA polymerase, accessory subunit
    p55
    polymerase (DNA directed), gamma 2, accessory subunit
    polymerase (DNA) gamma 2, accessory subunit
    NP_009146.2
    XP_047291177.1
    XP_047291178.1
    XP_047291179.1
    XP_047291180.1
    XP_054170833.1
    XP_054170834.1
    XP_054170835.1
    XP_054170836.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_013029.2 RefSeqGene

      Range
      5000..24269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007215.4 → NP_009146.2  DNA polymerase subunit gamma-2

      See identical proteins and their annotated locations for NP_009146.2

      Status: REVIEWED

      Source sequence(s)
      BC000913, BC009194, BI826587
      Consensus CDS
      CCDS32706.1
      UniProtKB/Swiss-Prot
      O00419, Q0IJ81, Q96GW2, Q9UHN1, Q9UK35, Q9UK94
      UniProtKB/TrEMBL
      E5KS15, E5KS22
      Related
      ENSP00000442563.2, ENST00000539111.7
      Conserved Domains (2) summary
      cd02426
      Location:354 → 481
      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 ...
      cl00268
      Location:69 → 350
      class_II_aaRS-like_core; Class II tRNA amino-acyl synthetase-like catalytic core domain. Class II amino acyl-tRNA synthetases (aaRS) share a common fold and generally attach an amino acid to the 3' OH of ribose of the appropriate tRNA. PheRS is an exception in that it attaches ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      64477785..64497054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435222.1 → XP_047291178.1  DNA polymerase subunit gamma-2, mitochondrial isoform X2

    2. XM_047435223.1 → XP_047291179.1  DNA polymerase subunit gamma-2, mitochondrial isoform X3

      Related
      ENSP00000500690.1, ENST00000671755.1

    3. XM_047435221.1 → XP_047291177.1  DNA polymerase subunit gamma-2, mitochondrial isoform X1

    4. XM_047435224.1 → XP_047291180.1  DNA polymerase subunit gamma-2, mitochondrial isoform X4

      Related
      ENSP00000500198.1, ENST00000673460.1

    RNA

    1. XR_007065259.1 RNA Sequence

      Related
      ENST00000585104.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      65347539..65366810 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314859.1 → XP_054170834.1  DNA polymerase subunit gamma-2, mitochondrial isoform X2

    2. XM_054314860.1 → XP_054170835.1  DNA polymerase subunit gamma-2, mitochondrial isoform X3

    3. XM_054314858.1 → XP_054170833.1  DNA polymerase subunit gamma-2, mitochondrial isoform X5

    4. XM_054314861.1 → XP_054170836.1  DNA polymerase subunit gamma-2, mitochondrial isoform X4

    RNA

    1. XR_008484774.1 RNA Sequence

    2. XR_008484775.1 RNA Sequence

    3. XR_008484776.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHN1.1 GenPept UniProtKB/Swiss-Prot:Q9UHN1

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous