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Pole Gene Detail
Summary
  • Symbol
    Pole
  • Name
    polymerase (DNA directed), epsilon
  • Synonyms
    pol-epsilon
  • Feature Type
    protein coding gene
  • IDs
    MGI:1196391
    NCBI Gene: 18973
  • Gene Overview
    MyGene.info: POLE
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr5:110286306-110337474 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      51169 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 53.45 cM, cytoband E3-E5
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    POLE, DNA polymerase epsilon, catalytic subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    POLE, DNA polymerase epsilon, catalytic subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CRCS12, FILS, POLE1
  • Links
    NCBI Gene ID: 5426
    neXtProt AC: NX_Q07864
    UniProt: Q07864

  • Chr Location
    12q24.33; chr12:132623762-132687524 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with human POLE associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 2 alleles in 3 genetic backgrounds
    5 phenotypes from multigenic genotypes
    12 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.
Mice homozygous for a knock-in allele exhibit increased incidence of tumors and premature death. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    5
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
less
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
    94
  • Tissues
    94
  • cDNA Data
    170
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000026219 VEGA Gene Model | MGI Sequence Detail 51169 C57BL/6J ±  kb
    transcript OTTMUST00000064842 VEGA | MGI Sequence Detail 7163 Not Applicable  
    polypeptide OTTMUSP00000032240 VEGA | MGI Sequence Detail 2283 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      350 from dbSNP Build 142
    • PCR
      1
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000012969 DNA polymerase epsilon catalytic subunit A
      (term hierarchy)
    • EC
      2.7.7.7
    • InterPro Domains
      IPR006172 DNA-directed DNA polymerase, family B
      IPR006133 DNA-directed DNA polymerase, family B, exonuclease domain
      IPR006134 DNA-directed DNA polymerase, family B, multifunctional domain
      IPR029703 DNA polymerase epsilon catalytic subunit
      IPR013697 DNA polymerase epsilon, catalytic subunit A, C-terminal
      IPR012337 Ribonuclease H-like superfamily
      IPR036397 Ribonuclease H superfamily
    Molecular
    Reagents
    less
    • All nucleic 175
      Genomic 2
      cDNA 172
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 2
      Gene Ontology 5
      Phenotypes 12
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:261973 Bellelli R, et al., Polepsilon Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis. Mol Cell. 2018 May 17;70(4):707-721.e7
    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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    Send questions and comments to User Support.     		last database update
    07/10/2018
    MGI 6.12     		The Jackson Laboratory