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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
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:79448910-79466306 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 45.04 cM, cytoband E
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    86 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1196389
protein coding gene Chr7:79446231-79466362 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032389
protein coding gene Chr7:81331175-81351061 (-)
A/J MGP_AJ_G0032368
protein coding gene Chr7:79453492-79474331 (-)
AKR/J MGP_AKRJ_G0032304
protein coding gene Chr7:81154612-81174532 (-)
BALB/cJ MGP_BALBcJ_G0032380
protein coding gene Chr7:79150827-79171090 (-)
C3H/HeJ MGP_C3HHeJ_G0032093
protein coding gene Chr7:81820892-81840779 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032872
protein coding gene Chr7:84528771-84550124 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029880
protein coding gene Chr7:81999048-82019328 (-)
CAST/EiJ MGP_CASTEiJ_G0031421
protein coding gene Chr7:72688432-72708355 (-)
CBA/J MGP_CBAJ_G0032059
protein coding gene Chr7:87361035-87380925 (-)
DBA/2J MGP_DBA2J_G0032214
protein coding gene Chr7:78031466-78051351 (-)
FVB/NJ MGP_FVBNJ_G0032169
protein coding gene Chr7:77942983-77963322 (-)
LP/J MGP_LPJ_G0032295
protein coding gene Chr7:82581954-82603176 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032206
protein coding gene Chr7:87547930-87567820 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032890
protein coding gene Chr7:80610494-80631547 (-)
PWK/PhJ MGP_PWKPhJ_G0031141
protein coding gene Chr7:71196088-71216313 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030982
protein coding gene Chr7:67599462-67619572 (-)
WSB/EiJ MGP_WSBEiJ_G0031539
protein coding gene Chr7:80929045-80948958 (-)



Homology
more
  • Human Ortholog
    POLG, DNA polymerase gamma, catalytic subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    POLG, DNA polymerase gamma, catalytic subunit
    Orthology source: HGNC, HomoloGene
  • 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
    68 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 18975 NCBI Gene Model | MGI Sequence Detail 17397 C57BL/6J ±  kb
    transcript NM_017462 RefSeq | MGI Sequence Detail 7748 C57BL/6  
    polypeptide P54099 UniProt | EBI | MGI Sequence Detail 1218 Not Applicable  
    For the selected sequence
    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 112
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 14
      Phenotypes 68
    • 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:266732 Faraci C, et al., Calorie restriction does not influence oocyte quality in oocytes from POLG mitochondrial mutator mice. PLoS One. 2018;13(9):e0204373

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory