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Polg Gene Detail
Summary
  • Symbol
    Polg
  • Name
    polymerase (DNA directed), gamma
  • Synonyms
    mitochondrial DNA polymerase gamma, mitochondrial DNA polymerase-gamma, Polga, Pol gamma, polymerase gamma
  • Feature Type
    protein coding gene
  • IDs
    MGI:1196389
    NCBI Gene: 18975
  • Gene Overview
    MyGene.info: POLG
Location & Maps
more
  • Sequence Map
    Chr7:79446231-79466362 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20132 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 45.04 cM, cytoband E
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    POLG, DNA polymerase gamma, catalytic subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    POLG, DNA polymerase gamma, catalytic subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE
  • Links
    NCBI Gene ID: 5428
    neXtProt AC: NX_P54098

  • Chr Location
    15q26.1; chr15:89316305-89334795 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Polg mouse models; 6 with human POLG associations

Human Disease Mouse Models
       Myelodysplastic Syndrome; MDS   OMIM: 614286 View 1 model
       Mitochondrial DNA Depletion Syndrome 1 (mngie Type); MTDPS1   OMIM: 603041
Mitochondrial DNA Depletion Syndrome 4a (alpers Type); MTDPS4A   OMIM: 203700
Mitochondrial DNA Depletion Syndrome 4b (mngie Type); MTDPS4B   OMIM: 613662
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 1; PEOA1   OMIM: 157640
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 1; PEOB1   OMIM: 258450
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis; SANDO   OMIM: 607459
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    61 phenotypes from 4 alleles in 5 genetic backgrounds
    4 images
    55 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
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Radiation induced
    2
  • Targeted
    6
  • Genomic Mutations
    3 involving Polg
  • Incidental Mutations
Homozygous proof-reading deficient mutants display reduced life spans and premature aging with weight loss, decreased subcutaneous fat, alopecia, kyphosis, osteoporosis, anemia, reduced fertility, and enlarged hearts. Homozygous null mice display embryonic lethality.
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 OTTMUSG00000029097 VEGA Gene Model | MGI Sequence Detail 20132 C57BL/6J ±  kb
transcript OTTMUST00000072160 VEGA | MGI Sequence Detail 7837 Not Applicable  
polypeptide OTTMUSP00000037076 VEGA | MGI Sequence Detail 1217 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    99 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 13
    Genomic 1
    cDNA 11
    Primer pair 1

    Microarray probesets 7
Other
Accession IDs
less
MGI:2141822
References
more
  • Summaries
    All 89
    Developmental Gene Expression 4
    Diseases 2
    Gene Ontology 13
    Phenotypes 55
  • Earliest
    J:45383 Zullo SJ, et al., Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-- >q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs). Cytogenet Cell Genet. 1997;78(3-4):281-4
  • Latest
    J:232814 Wiley CD, et al., Mitochondrial Dysfunction Induces Senescence with a Distinct Secretory Phenotype. Cell Metab. 2016 Feb 9;23(2):303-14

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