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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
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
  • 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

  • Chr Location
    12q24.3; chr12:132623762-132687524 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human POLE associations

Human Disease Mouse Models
       Colorectal Cancer, Susceptibility to, 12; CRCS12   OMIM: 615083
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature; FILS   OMIM: 615139
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 2 genetic backgrounds
    6 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.
  • All Mutations and Alleles
    16
  • Chemically induced (other)
    1
  • Gene trapped
    12
  • Radiation induced
    1
  • Targeted
    1
  • Transgenic
    1
  • Genomic Mutations
    2 involving Pole
  • Incidental Mutations
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
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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 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
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  • SNPs within 2kb
    350 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    10 Sequences
  • Protein Ontology
    PR:000012969 DNA polymerase epsilon catalytic subunit A
  • EC
  • 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 domain
Molecular
Reagents
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  • All nucleic 174
    Genomic 2
    cDNA 171
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 33
    Developmental Gene Expression 1
    Gene Ontology 4
    Phenotypes 12
  • Earliest
    J:44457 Kamel D, et al., Role of deoxyribonucleic acid polymerase epsilon in spermatogenesis in mice. Biol Reprod. 1997 Dec;57(6):1367-74
  • Latest
    J:153684 Albertson TM, et al., DNA polymerase epsilon and delta proofreading suppress discrete mutator and cancer phenotypes in mice. Proc Natl Acad Sci U S A. 2009 Oct 6;106(40):17101-4

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
09/20/2016
MGI 6.05
The Jackson Laboratory