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Pole4 Gene Detail
Summary
  • Symbol
    Pole4
  • Name
    polymerase (DNA-directed), epsilon 4 (p12 subunit)
  • Synonyms
    2400007P05Rik, 5830430F06Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914229
    NCBI Gene: 66979
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:82618924-82652933 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 35.94 cM, cytoband D1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    148 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914229
 protein coding gene Chr6:82618924-82705365 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030905
 protein coding gene Chr6:83574309-83680033 (-)
A/J MGP_AJ_G0030874
 protein coding gene Chr6:80405720-80490900 (-)
AKR/J MGP_AKRJ_G0030802
 protein coding gene Chr6:82692047-82795217 (-)
BALB/cJ MGP_BALBcJ_G0030884
 protein coding gene Chr6:80415101-80504440 (-)
C3H/HeJ MGP_C3HHeJ_G0030826
 protein coding gene Chr6:101581267-101679131 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031344
 protein coding gene Chr6:85854843-85949875 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028530
 protein coding gene Chr6:78761264-78841803 (-)
CAST/EiJ MGP_CASTEiJ_G0029993
 protein coding gene Chr6:82696255-82787100 (-)
CBA/J MGP_CBAJ_G0030571
 protein coding gene Chr6:89270498-89363712 (-)
DBA/2J MGP_DBA2J_G0030724
 protein coding gene Chr6:79711880-79810980 (-)
FVB/NJ MGP_FVBNJ_G0030677
 protein coding gene Chr6:78927230-79021078 (-)
LP/J MGP_LPJ_G0030803
 protein coding gene Chr6:83576297-83671384 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030713
 protein coding gene Chr6:93586995-93674487 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031368
 protein coding gene Chr6:82513577-82615457 (-)
PWK/PhJ MGP_PWKPhJ_G0029708
 protein coding gene Chr6:78586634-78698434 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029536
 protein coding gene Chr6:81371641-81470184 (-)
WSB/EiJ MGP_WSBEiJ_G0030074
 protein coding gene Chr6:82963248-83060038 (-)



Homology
more
  • Human Ortholog
    POLE4, DNA polymerase epsilon 4, accessory subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    POLE4, DNA polymerase epsilon 4, accessory subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    p12, YHHQ1
  • Links
    NCBI Gene ID: 56655
    neXtProt AC: NX_Q9NR33
    UniProt: Q9NR33

  • Chr Location
    2p12; chr2:74958648-74969732 (+)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    62 phenotypes from 1 allele in 2 genetic backgrounds
    10 phenotypes from multigenic genotypes
    10 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 inactivation of this gene causes embryonic lethality and extensive developmental defects in inbred strains. In an outbred background, viable homozygotes show growth, craniofacial and skeletal anomalies, subfertility, defective B and T cell maturation, leukopenia, and tumor predisposition.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    6
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
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
    167
  • Tissues
    135
  • cDNA Data
    98
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66979 NCBI Gene Model | MGI Sequence Detail 34010 C57BL/6J ±  kb
    transcript NM_025882 RefSeq | MGI Sequence Detail 1694 C57BL/6  
    polypeptide Q9CQ36 UniProt | EBI | MGI Sequence Detail 118 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • EC
      2.7.7.7
    • InterPro Domains
      IPR009072 Histone-fold
      IPR003958 Transcription factor CBF/NF-Y/archaeal histone domain
    Molecular
    Reagents
    less
    • All nucleic 101
      cDNA 98
      Primer pair 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1923287
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 8
      Gene Ontology 6
      Phenotypes 10
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • 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
    01/08/2019
    MGI 6.13     		The Jackson Laboratory