HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
POLG2
DNA polymerase gamma 2, accessory subunit
Chromosome 17 Β· 17q23.3
NCBI Gene: 11232Ensembl: ENSG00000256525.9HGNC: HGNC:9180UniProt: E5KS15
58PubMed Papers
23Diseases
0Drugs
33Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionmitochondrial nucleoidgamma DNA polymerase complexDNA polymerase processivity factor activityprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4mitochondrial dna depletion syndrome 16B (neuroophthalmic type)mitochondrial DNA depletion syndrome 16 (hepatic type)neurodegenerative disease
✦AI Summary

POLG2 is the accessory subunit of mitochondrial DNA polymerase gamma, essential for mtDNA replication and maintenance 1. As a homodimeric protein, POLG2 enhances the catalytic activity and processivity of the POLG catalytic subunit through allosteric regulation and increased DNA template interactions 2. POLG2 possesses dual functionality: it augments processive DNA synthesis by POLG while also directly binding DNA in both dimeric and oligomeric forms, with structure-specific roles targeting forked DNA structures resembling the mitochondrial D-loop 2. Pathogenic variants in POLG2 cause mitochondrial DNA maintenance defects (MDMDs), resulting in either mtDNA depletion or accumulation of multiple deletions 1. Clinical presentations are clinically heterogeneous: biallelic mutations cause severe infantile-onset hepatic failure with mtDNA depletion syndrome, while heterozygous mutations present with adult-onset progressive external ophthalmoplegia, cerebellar ataxia, parkinsonism, and cognitive decline 3. Recent zebrafish polg2 knockout models recapitulate human POLG-related phenotypes including mtDNA depletion, mitochondrial dysfunction, and reduced respiration 4. Clinically, perampanel demonstrated efficacy in POLG2-related epilepsies, achieving >90% seizure reduction in some patients 5, suggesting potential for targeted therapeutic intervention in POLG2-linked disease.

Sources cited
1
POLG2 is part of mtDNA replication machinery; pathogenic variants cause MDMDs with mtDNA depletion or deletions
PMID: 28215579
2
PolG2 homodimer enhances processive DNA synthesis; directly binds DNA in dimeric and oligomeric forms with structure-specific roles at forked DNA structures
PMID: 37592734
3
POLG2 pathogenic variants cause clinically heterogeneous disease; biallelic mutations cause infantile hepatic failure; heterozygous mutations cause adult-onset ophthalmoplegia and ataxia
PMID: 37085601
4
Zebrafish polg2 knockout models show mtDNA depletion, altered mitochondrial dynamics, and reduced respiration; drug treatment partially rescues mtDNA depletion
PMID: 38643274
5
Perampanel showed high efficacy in POLG2-related epilepsies with >90% seizure reduction in some patients
PMID: 36734057
Disease Associationsβ“˜23
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4Open Targets
0.77Strong
mitochondrial dna depletion syndrome 16B (neuroophthalmic type)Open Targets
0.73Strong
mitochondrial DNA depletion syndrome 16 (hepatic type)Open Targets
0.68Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
autosomal dominant progressive external ophthalmoplegiaOpen Targets
0.37Weak
asthmaOpen Targets
0.30Weak
Acute hepatic failureOpen Targets
0.27Weak
acute liver failureOpen Targets
0.27Weak
hereditary spastic paraplegiaOpen Targets
0.18Weak
Abnormality of refractionOpen Targets
0.14Weak
progressive external ophthalmoplegia with mitochondrial DNA deletionsOpen Targets
0.12Weak
autism spectrum disorderOpen Targets
0.12Weak
nephronophthisisOpen Targets
0.06Suggestive
Genetic renal or urinary tract malformationOpen Targets
0.06Suggestive
primary hyperoxaluria type 2Open Targets
0.05Suggestive
nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosisOpen Targets
0.05Suggestive
Dent diseaseOpen Targets
0.04Suggestive
Dent disease type 1Open Targets
0.04Suggestive
congenital anomalies of kidney and urinary tract 1Open Targets
0.04Suggestive
prostate cancerOpen Targets
0.04Suggestive
Mitochondrial DNA depletion syndrome 16, hepatic typeUniProt
Mitochondrial DNA depletion syndrome 16B, neuroophthalmic typeUniProt
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4UniProt
Pathogenic Variants33
NM_007215.4(POLG2):c.743C>A (p.Ser248Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 248
NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu)Likely pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|POLG2-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 451
NM_007215.4(POLG2):c.420del (p.Asp142fs)Pathogenic
not provided|POLG2-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 142
NM_007215.4(POLG2):c.689+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_007215.4(POLG2):c.578_579del (p.Tyr193fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 193
NM_007215.4(POLG2):c.969+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_007215.4(POLG2):c.404del (p.Pro135fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 135
NM_007215.4(POLG2):c.1188_1191del (p.Gln397fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 397
NM_007215.4(POLG2):c.765G>A (p.Trp255Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 255
NM_007215.4(POLG2):c.729_730del (p.Pro244fs)Pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
β˜…β˜†β˜†β˜†2024β†’ Residue 244
NM_007215.4(POLG2):c.989dup (p.Asn330fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 330
NM_007215.4(POLG2):c.370C>T (p.Gln124Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 124
NM_007215.4(POLG2):c.1045dup (p.Tyr349fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 349
NM_007215.4(POLG2):c.746del (p.Asn249fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 249
NM_007215.4(POLG2):c.416del (p.Leu139fs)Likely pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
β˜…β˜†β˜†β˜†2024β†’ Residue 139
NM_007215.4(POLG2):c.982C>T (p.Arg328Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 328
NM_007215.4(POLG2):c.1192-1G>ALikely pathogenic
Mitochondrial DNA depletion syndrome 16 (hepatic type);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4;Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
β˜…β˜†β˜†β˜†2023
NM_007215.4(POLG2):c.562+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_007215.4(POLG2):c.752G>A (p.Trp251Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 251
NM_007215.4(POLG2):c.1110+2T>ALikely pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
β˜…β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
MCM3Protein interaction100%POLE3Protein interaction100%YARS1Protein interaction100%POLD1Protein interaction99%POLA2Protein interaction99%TFAMProtein interaction97%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
92%
Liver
55%
Lung
54%
Heart
41%
Brain
17%
Gene Interaction Network
Click a node to explore
POLG2MCM3POLE3YARS1POLD1POLA2TFAM
PROTEIN STRUCTURE
Preparing viewer…
PDB8UDL Β· 2.37 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.84 [0.62–1.16]
RankingsWhere POLG2 stands among ~20K protein-coding genes
  • #7,903of 20,598
    Most Researched58
  • #1,731of 5,498
    Most Pathogenic Variants33
  • #12,062of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedPOLG2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mitochondrial DNA maintenance defects.
PMID: 28215579
Biochim Biophys Acta Mol Basis Dis Β· 2017
1.00
2
Autophagy deficiency abolishes liver mitochondrial DNA segregation.
PMID: 35220898
Autophagy Β· 2022
0.90
3
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.80
4
ER-mitochondria contacts couple mtDNA synthesis with mitochondrial division in human cells.
PMID: 27418514
Science Β· 2016
0.70
5
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.
PMID: 38643274
Cell Death Dis Β· 2024
0.60