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

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

Summary

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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
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Genomic context

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See POLG2 in Genome Data Viewer
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

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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. 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

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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.

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

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