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Aliases for POLG2 Gene

Aliases for POLG2 Gene

  • Polymerase (DNA Directed), Gamma 2, Accessory Subunit 2 3
  • Mitochondrial DNA Polymerase Accessory Subunit 3 4
  • DNA Polymerase Gamma Accessory 55 KDa Subunit 3 4
  • POLG-BETA 3 4
  • MTPOLB 3 4
  • PEOA4 3 6
  • POLGB 3 6
  • P55 3 4
  • Mitochondrial DNA Polymerase, Accessory Subunit 3
  • DNA Polymerase Subunit Gamma-2, Mitochondrial 3
  • Mitochondrial DNA Polymerase Subunit Gamma-2 3
  • EC 2.7.7.7 4
  • 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 (Polymerase (DNA Directed), 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 progressive external ophthalmoplegia, autosomal dominant. Among its related pathways are Metabolism and Chks in Checkpoint Regulation. GO annotations related to this gene include identical protein binding and DNA-directed DNA polymerase activity.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLG2 Gene

Genomics for POLG2 Gene

Regulatory Elements for POLG2 Gene

Genomic Location for POLG2 Gene

Start:
64,477,785 bp from pter
End:
64,497,066 bp from pter
Size:
19,282 bases
Orientation:
Minus strand

Genomic View for POLG2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for POLG2 Gene at MOPED

Post-translational modifications for POLG2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POLG2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for POLG2 Gene

Domains for POLG2 Gene

Gene Families for POLG2 Gene

HGNC:
  • POL :DNA polymerases

Protein Domains for POLG2 Gene

Suggested Antigen Peptide Sequences for POLG2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for POLG2 Gene

Function for POLG2 Gene

Molecular function for POLG2 Gene

GENATLAS Biochemistry: polymerase (DNA directed) gamma 2,mitochondrial,accessory subunit
UniProtKB/Swiss-Prot CatalyticActivity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)
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

Enzyme Numbers (IUBMB) 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 IEA --
GO:0005515 protein binding IPI 16263719
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with POLG2: view
genes like me logo Genes that share phenotypes with POLG2: view

Animal Models for POLG2 Gene

MGI Knock Outs for POLG2:

miRNA for POLG2 Gene

miRTarBase miRNAs that target POLG2

No data available for Transcription Factor Targeting and HOMER Transcription for POLG2 Gene

Localization for POLG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLG2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLG2 Gene COMPARTMENTS Subcellular localization image for POLG2 gene
Compartment Confidence
mitochondrion 5
nucleus 1

Gene Ontology (GO) - Cellular Components for POLG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000262 mitochondrial chromosome TAS 9153213
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix TAS --
GO:0042645 mitochondrial nucleoid IDA 18063578
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with POLG2: view

Pathways 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:0006260 DNA replication NAS 10608893
GO:0006261 DNA-dependent DNA replication TAS 9153213
GO:0006264 mitochondrial DNA replication IBA --
GO:0006281 DNA repair NAS 10608893
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with POLG2: view

Compounds for POLG2 Gene

(9) Novoseek inferred chemical compound relationships for POLG2 Gene

Compound -log(P) Hits PubMed IDs
carbovir 81.8 1
nucleoside 71.8 7
diethyl dithiocarbamate 56.2 3
abacavir 45 1
zidovudine 43.7 1
genes like me logo Genes that share compounds with POLG2: view

Transcripts for POLG2 Gene

Unigene Clusters for POLG2 Gene

Polymerase (DNA directed), gamma 2, accessory subunit:
Representative Sequences:

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

No ASD Table

Relevant External Links for POLG2 Gene

GeneLoc Exon Structure for
POLG2
ECgene alternative splicing isoforms for
POLG2

Expression for POLG2 Gene

mRNA expression in normal human tissues for POLG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLG2 Gene

SOURCE GeneReport for Unigene cluster for POLG2 Gene Hs.437009

genes like me logo Genes that share expressions 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 35
  • 99.52 (n)
  • 99.38 (a)
POLG2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POLG2 35
  • 88.09 (n)
  • 84.09 (a)
POLG2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLG2 35
  • 88.66 (n)
  • 86.6 (a)
POLG2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polg2 35
  • 82.43 (n)
  • 77.12 (a)
Polg2 16
Polg2 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLG2 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLG2 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polg2 35
  • 81.21 (n)
  • 77.41 (a)
chicken
(Gallus gallus)
Aves POLG2 35
  • 66.82 (n)
  • 64.39 (a)
POLG2 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLG2 36
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MtPolB 35
tropical clawed frog
(Silurana tropicalis)
Amphibia polg2 35
  • 62.01 (n)
  • 59.25 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12664 35
zebrafish
(Danio rerio)
Actinopterygii polg2 35
  • 56.03 (n)
  • 50 (a)
polg2 36
  • 45 (a)
OneToOne
Species with no ortholog for POLG2:
  • 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)

Paralogs for POLG2 Gene

No data available for Paralogs for POLG2 Gene

Variants for POLG2 Gene

Sequence variations from dbSNP and Humsavar for POLG2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1046753 -- 64,496,681(-) TGCCA(C/T)CCCGG reference, synonymous-codon, nc-transcript-variant
rs1427463 Benign, - 64,496,464(+) AAATG(C/T)TACTA missense, reference, nc-transcript-variant
rs3744409 -- 64,496,295(-) GTTAG(C/T)TAGTT intron-variant
rs7214650 -- 64,494,969(+) gagat(A/C)gagac intron-variant
rs7214806 -- 64,495,043(+) tggca(A/G)gtgcc intron-variant

Relevant External Links for POLG2 Gene

HapMap Linkage Disequilibrium report
POLG2
Human Gene Mutation Database (HGMD)
POLG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for POLG2 Gene

Disorders for POLG2 Gene

(1) OMIM Diseases for POLG2 Gene (604983)

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.

(1) University of Copenhagen DISEASES for POLG2 Gene

(9) Novoseek inferred disease relationships for POLG2 Gene

Disease -log(P) Hits PubMed IDs
alpers syndrome 90.9 3
progressive external ophthalmoplegia 82.1 8
mitochondrial diseases 72.6 1
lipodystrophy 32 1
aids 10.3 2

Relevant External Links for POLG2

Genetic Association Database (GAD)
POLG2
Human Genome Epidemiology (HuGE) Navigator
POLG2
genes like me logo Genes that share disorders with POLG2: view

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 L.S. (J. Biol. Chem. 1997) 2 3 4 23
  2. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. (PMID: 16685652) Longley M.J. … Chinnery P.F. (Am. J. Hum. Genet. 2006) 3 4 23
  3. 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 J.A. … Bogenhagen D.F. (Nucleic Acids Res. 2000) 3 4 23
  4. Human mitochondrial DNA polymerase holoenzyme: reconstitution and characterization. (PMID: 10677218) Johnson A.A. … Johnson K.A. (Biochemistry 2000) 3 4 23
  5. DNA binding properties of human pol gammaB. (PMID: 12379656) Carrodeguas J.A. … Bogenhagen D.F. (J. Biol. Chem. 2002) 3 23

Products for POLG2 Gene

Sources for POLG2 Gene

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