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Polh Gene Detail
Summary
  • Symbol
    Polh
  • Name
    polymerase (DNA directed), eta (RAD 30 related)
  • Synonyms
    RAD30A
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891457
    NCBI Gene: 80905
  • Gene Overview
    MyGene.info: POLH
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr17:46172004-46202625 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      30622 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 22.90 cM, cytoband C
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    POLH, DNA polymerase eta
  • Vertebrate Orthologs
    10
  • Human Ortholog
    POLH, DNA polymerase eta
    Orthology source: HomoloGene, HGNC
  • Synonyms
    RAD30, RAD30A, XPV, XP-V
  • Links
    NCBI Gene ID: 5429
    neXtProt AC: NX_Q9Y253
    UniProt: Q9Y253

  • Chr Location
    6p21.1; chr6:43576141-43620523 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Polh mouse models; 1 with human POLH associations

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 4 alleles in 4 genetic backgrounds
    2 phenotypes from multigenic genotypes
    23 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 increased susceptibility to UV-induced skin tumors and results in reduced immunoglobulin gene mutations at A-T base pairs with a G-C biased mutation pattern.
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 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000023953 Ensembl Gene Model | MGI Sequence Detail 30622 C57BL/6J ±  kb
    transcript ENSMUST00000024749 Ensembl | MGI Sequence Detail 2569 Not Applicable  
    polypeptide ENSMUSP00000024749 Ensembl | MGI Sequence Detail 694 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      56 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 14

      Microarray probesets 3
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 1
      Diseases 3
      Gene Ontology 5
      Phenotypes 23
    • Earliest
      J:59222 Dai G, et al., Three novel paralogs of the rodent prolactin gene family. J Endocrinol. 2000;166(1):63-75
    • Latest
      J:232141 Lange SS, et al., The Polymerase Activity of Mammalian DNA Pol zeta Is Specifically Required for Cell and Embryonic Viability. PLoS Genet. 2016 Jan;12(1):e1005759

    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
    07/31/2018
    MGI 6.12
    The Jackson Laboratory