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

Summary

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
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Genomic context

Location:: 17q23.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (64477785..64497054, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (65347539..65366810, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (62473902..62493172, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Consequences of compromised mitochondrial genome integrity.
Title: Consequences of compromised mitochondrial genome integrity.
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.
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.
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.
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.
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.
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

Associated conditions

Description	Tests
Mitochondrial DNA depletion syndrome 16 (hepatic type) MedGen: C5193142 OMIM: 618528 GeneReviews: Not available	Compare labs
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) MedGen: C5543632 OMIM: 619425 GeneReviews: Not available	Compare labs
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MedGen: C1864668 OMIM: 610131 GeneReviews: Mitochondrial DNA Maintenance Defects Overview	Compare labs

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

WI-22548 (e-PCR)
- UniSTS:77080

RH103168 (e-PCR)
- UniSTS:97501

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
located_in mitochondrion	HTP 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

Names: DNA polymerase gamma accessory 55 kDa subunit; DNA polymerase subunit gamma-2, mitochondrial; 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

EC 2.7.7.7

XP_047291177.1

EC 2.7.7.7

XP_047291178.1

EC 2.7.7.7

XP_047291179.1

EC 2.7.7.7

XP_047291180.1

EC 2.7.7.7

XP_054170833.1

EC 2.7.7.7

XP_054170834.1

EC 2.7.7.7

XP_054170835.1

EC 2.7.7.7

XP_054170836.1

EC 2.7.7.7

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

NG_013029.2 RefSeqGene

Range

5000..24269

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...