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Polg2 Gene Detail
Summary
  • Symbol
    Polg2
  • Name
    polymerase (DNA directed), gamma 2, accessory subunit
  • Feature Type
    protein coding gene
  • IDs
    MGI:1354947
    NCBI Gene: 50776
  • Gene Overview
    MyGene.info: POLG2
Location & Maps
more
  • Sequence Map
    Chr11:106768253-106779537 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11285 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 70.01 cM, cytoband E1
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    POLG2, DNA polymerase gamma 2, accessory subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    POLG2, DNA polymerase gamma 2, accessory subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HP55, MTPOLB, PEOA4, POLB, POLGB, POLG-BETA
  • Links
    NCBI Gene ID: 11232
    neXtProt AC: NX_Q9UHN1

  • Chr Location
    17q23.3; chr17:64476994-64497066 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human POLG2 associations

Human Disease Mouse Models
       Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 4; PEOA4   OMIM: 610131
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Gene trapped
    9
  • Targeted
    5
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit embryonic lethality between somite formation and turning, fail to initiate turning, lack mt-Co1 activity, and contain abnormal mitochondria with reduced mtDNA.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003591 VEGA Gene Model | MGI Sequence Detail 11285 C57BL/6J ±  kb
transcript OTTMUST00000007741 VEGA | MGI Sequence Detail 1506 Not Applicable  
polypeptide OTTMUSP00000003758 VEGA | MGI Sequence Detail 459 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    97 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 17
    cDNA 16
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 33
    Developmental Gene Expression 1
    Gene Ontology 8
    Phenotypes 8
  • Earliest
    J:60695 Carrodeguas JA, et al., Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase. Nucleic Acids Res. 2000 Mar 1;28(5):1237-44
  • Latest
    J:233401 Jemt E, et al., Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element. Nucleic Acids Res. 2015 Oct 30;43(19):9262-75

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory