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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
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: HGNC, HomoloGene
  • Synonyms
    RAD30, RAD30A, XPV, XP-V
  • Links
    NCBI Gene ID: 5429
    neXtProt AC: NX_Q9Y253

  • Chr Location
    6p21.1; chr6:43576141-43620523 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Xeroderma Pigmentosum, Variant Type; XPV   OMIM: 278750 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
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
    13
  • Gene trapped
    7
  • Targeted
    6
  • Incidental Mutations
    APF
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
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 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 13
    cDNA 13

    Microarray probesets 3
References
more
  • Summaries
    All 42
    Developmental Gene Expression 1
    Diseases 3
    Gene Ontology 5
    Phenotypes 23
  • Earliest
    J:63288 Yamada A, et al., Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta. Nucleic Acids Res. 2000 Jul 1;28(13):2473-80
  • Latest
    J:226564 Chen YW, et al., Ablation of XP-V gene causes adipose tissue senescence and metabolic abnormalities. Proc Natl Acad Sci U S A. 2015 Aug 18;112(33):E4556-64

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
07/19/2016
MGI 6.04
The Jackson Laboratory