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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
  • Alliance
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
    UniProt: P54098

  • Chr Location
    15q26.1; chr15:89316305-89334795 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Polg mouse models; 2 with human POLG associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 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
    16 phenotypes from multigenic genotypes
    4 images
    63 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.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      99 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      14 Sequences
    • EC
    • InterPro Domains
      IPR019760 DNA-directed DNA polymerase, family A, conserved site
      IPR002297 DNA-directed DNA-polymerase, family A, mitochondria
      IPR001098 DNA-directed DNA polymerase, family A, palm domain
      IPR012337 Ribonuclease H-like superfamily
    Molecular
    Reagents
    less
    • All nucleic 14
      Genomic 1
      cDNA 12
      Primer pair 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2141822
    References
    more
    • Summaries
      All 107
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 13
      Phenotypes 63
    • Earliest
      J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
    • Latest
      J:261916 Forslund JME, et al., The presence of rNTPs decreases the speed of mitochondrial DNA replication. PLoS Genet. 2018 Mar;14(3):e1007315

    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
    07/10/2018
    MGI 6.12
    The Jackson Laboratory