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 dele... See more...

Aliases for POLG2 Gene

Aliases for POLG2 Gene

  • DNA Polymerase Gamma 2, Accessory Subunit 2 3 5
  • Polymerase (DNA Directed), Gamma 2, Accessory Subunit 2 3
  • DNA Polymerase Subunit Gamma-2, Mitochondrial 3 4
  • DNA Polymerase Gamma Accessory 55 KDa Subunit 3 4
  • Polymerase (DNA) Gamma 2, Accessory Subunit 2 3
  • MTPOLB 3 4
  • P55 3 4
  • Mitochondrial DNA Polymerase, Accessory Subunit 3
  • Mitochondrial DNA Polymerase Accessory Subunit 4
  • Mitochondrial DNA Polymerase Subunit Gamma-2 3
  • HSALNG0118096 167
  • NONHSAG022500 92
  • Lnc-DDX5-2 168
  • POLG-BETA 3
  • PolG-Beta 4
  • MTDPS16 3
  • MtPolB 4
  • PEOA4 3
  • POLGB 3
  • HP55 3
  • POLB 3

External Ids for POLG2 Gene

Previous GeneCards Identifiers for POLG2 Gene

  • GC17M065809
  • GC17P068985
  • GC17M062891
  • GC17M063024
  • GC17M059904
  • GC17M062473
  • GC17M057923

Summaries for POLG2 Gene

Entrez Gene Summary for POLG2 Gene

  • 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]

GeneCards Summary for POLG2 Gene

POLG2 (DNA Polymerase Gamma 2, Accessory Subunit) is a Protein Coding gene. Diseases associated with POLG2 include Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 and Mitochondrial Dna Depletion Syndrome 16. Among its related pathways are Mitochondrial Gene Expression and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include identical protein binding and DNA-directed DNA polymerase activity. An important paralog of this gene is GARS1.

UniProtKB/Swiss-Prot Summary for POLG2 Gene

  • Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.

Gene Wiki entry for POLG2 Gene

Additional gene information for POLG2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLG2 Gene

Genomics for POLG2 Gene

GeneHancer (GH) Regulatory Elements for POLG2 Gene

Promoters and enhancers for POLG2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLG2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLG2

Top Transcription factor binding sites by QIAGEN in the POLG2 gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E47
  • ER-alpha
  • Evi-1

Genomic Locations for POLG2 Gene

Genomic Locations for POLG2 Gene
chr17:64,476,994-64,497,066
(GRCh38/hg38)
Size:
20,073 bases
Orientation:
Minus strand
chr17:62,473,902-62,493,184
(GRCh37/hg19)
Size:
19,283 bases
Orientation:
Minus strand

Genomic View for POLG2 Gene

Genes around POLG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLG2 Gene

Proteins for POLG2 Gene

  • Protein details for POLG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHN1-DPOG2_HUMAN
    Recommended name:
    DNA polymerase subunit gamma-2, mitochondrial
    Protein Accession:
    Q9UHN1
    Secondary Accessions:
    • O00419
    • Q0IJ81
    • Q96GW2
    • Q9UK35
    • Q9UK94

    Protein attributes for POLG2 Gene

    Size:
    485 amino acids
    Molecular mass:
    54911 Da
    Quaternary structure:
    • Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits.

    Three dimensional structures from OCA and Proteopedia for POLG2 Gene

neXtProt entry for POLG2 Gene

Post-translational modifications for POLG2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POLG2 Gene

No data available for DME Specific Peptides for POLG2 Gene

Domains & Families for POLG2 Gene

Gene Families for POLG2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for POLG2 Gene

Suggested Antigen Peptide Sequences for POLG2 Gene

GenScript: Design optimal peptide antigens:
  • PolG-beta (DPOG2_HUMAN)
  • Polymerase (DNA directed), gamma 2, accessory subunit (E5KS15_HUMAN)
genes like me logo Genes that share domains with POLG2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for POLG2 Gene

Function for POLG2 Gene

Molecular function for POLG2 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.
GENATLAS Biochemistry:
polymerase (DNA directed) gamma 2,mitochondrial,accessory subunit

Phenotypes From GWAS Catalog for POLG2 Gene

Gene Ontology (GO) - Molecular Function for POLG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity IBA,TAS 21873635
GO:0005515 protein binding IPI 16263719
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with POLG2: view
genes like me logo Genes that share phenotypes with POLG2: view

Human Phenotype Ontology for POLG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POLG2 Gene

MGI Knock Outs for POLG2:
  • Polg2 Polg2<tm1.1Wcc>
  • Polg2 Polg2<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for POLG2 Gene

miRTarBase miRNAs that target POLG2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLG2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for POLG2 Gene

Localization for POLG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLG2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLG2 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytoskeleton 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000262 mitochondrial chromosome TAS 9153213
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IEA,IBA 21873635
GO:0005759 mitochondrial matrix TAS --
GO:0005760 gamma DNA polymerase complex IDA 26446790
genes like me logo Genes that share ontologies with POLG2: view

Pathways & Interactions for POLG2 Gene

genes like me logo Genes that share pathways with POLG2: view

Gene Ontology (GO) - Biological Process for POLG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006260 DNA replication NAS,IEA 10608893
GO:0006261 DNA-dependent DNA replication IDA 26446790
GO:0006264 mitochondrial DNA replication IBA 21873635
GO:0006281 DNA repair NAS,IEA 10608893
genes like me logo Genes that share ontologies with POLG2: view

No data available for SIGNOR curated interactions for POLG2 Gene

Drugs & Compounds for POLG2 Gene

(9) Drugs for POLG2 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2480
Clofarabine Approved, Investigational Pharma Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 166
Fludarabine Approved Pharma DNA synthsis inhibitor 1470,1470

(4) Additional Compounds for POLG2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8

(3) ApexBio Compounds for POLG2 Gene

Compound Action Cas Number
Carboplatin Antitumor agent that forms platinum-DNA adducts. 41575-94-4
Clofarabine Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 123318-82-1
Fludarabine DNA synthsis inhibitor 21679-14-1
genes like me logo Genes that share compounds with POLG2: view

Drug Products

Transcripts for POLG2 Gene

mRNA/cDNA for POLG2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
7 RNACentral transcripts :
1 NONCODE transcripts :
1 LncBook transcripts :
5 LNCipedia transcripts :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLG2

Alternative Splicing Database (ASD) splice patterns (SP) for POLG2 Gene

No ASD Table

Relevant External Links for POLG2 Gene

GeneLoc Exon Structure for
POLG2

Expression for POLG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POLG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLG2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.2), Testis (18.7), CD8 Tcells (10.6), and Blymphocyte (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POLG2 Gene



Protein tissue co-expression partners for POLG2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLG2

SOURCE GeneReport for Unigene cluster for POLG2 Gene:

Hs.437009

Evidence on tissue expression from TISSUES for POLG2 Gene

  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POLG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • larynx
  • mouth
  • neck
  • pharynx
  • pituitary gland
  • vocal cord
Thorax:
  • breast
  • esophagus
  • heart
  • heart valve
Abdomen:
  • stomach
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • foot
  • lower limb
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with POLG2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for POLG2 Gene

Orthologs for POLG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for POLG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLG2 31 30
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POLG2 31 30
  • 88.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia POLG2 31 30
  • 88.09 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Polg2 17 31 30
  • 82.43 (n)
rat
(Rattus norvegicus)
Mammalia Polg2 30
  • 81.21 (n)
oppossum
(Monodelphis domestica)
Mammalia POLG2 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLG2 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLG2 31 30
  • 66.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLG2 31
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polg2 30
  • 62.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia MtPolB 30
zebrafish
(Danio rerio)
Actinopterygii polg2 31 30
  • 56.03 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12664 30
Species where no ortholog for POLG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POLG2 Gene

ENSEMBL:
Gene Tree for POLG2 (if available)
TreeFam:
Gene Tree for POLG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLG2: view image

Paralogs for POLG2 Gene

Paralogs for POLG2 Gene

genes like me logo Genes that share paralogs with POLG2: view

Variants for POLG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLG2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
667974 Benign: not provided 64,483,156(-) A/C INTRON_VARIANT
671671 Benign: not provided 64,497,151(-) A/G
671672 Benign: not provided 64,480,521(-) T/C INTRON_VARIANT
676255 Benign: not provided 64,496,295(-) A/G INTRON_VARIANT
676256 Benign: not provided 64,493,139(-) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for POLG2 Gene

Structural Variations from Database of Genomic Variants (DGV) for POLG2 Gene

Variant ID Type Subtype PubMed ID
nsv960136 CNV duplication 23825009

Variation tolerance for POLG2 Gene

Residual Variation Intolerance Score: 77.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.36; 90.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLG2 Gene

Human Gene Mutation Database (HGMD)
POLG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLG2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLG2 Gene

Disorders for POLG2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for POLG2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

DPOG2_HUMAN
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269 PubMed:16685652}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for POLG2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POLG2: view

No data available for Genatlas for POLG2 Gene

Publications for POLG2 Gene

  1. Accessory subunit of mitochondrial DNA polymerase from Drosophila embryos. Cloning, molecular analysis, and association in the native enzyme. (PMID: 9153213) Wang Y … Kaguni LS (The Journal of biological chemistry 1997) 2 3 4 23 54
  2. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. (PMID: 16685652) Longley MJ … Chinnery PF (American journal of human genetics 2006) 3 4 23 54
  3. Human mitochondrial DNA polymerase holoenzyme: reconstitution and characterization. (PMID: 10677218) Johnson AA … Johnson KA (Biochemistry 2000) 3 4 23 54
  4. Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase. (PMID: 10666468) Carrodeguas JA … Bogenhagen DF (Nucleic acids research 2000) 3 4 23 54
  5. Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. (PMID: 27592148) Varma H … Naini AB (European journal of medical genetics 2016) 3 4 54

Products for POLG2 Gene

Sources for POLG2 Gene