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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:46482281-46513567 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 22.90 cM, cytoband C
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    794 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891457
 protein coding gene Chr17:46482281-46513571 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023805
 protein coding gene Chr17:47218081-47250033 (-)
A/J MGP_AJ_G0023763
 protein coding gene Chr17:46080842-46112501 (-)
AKR/J MGP_AKRJ_G0023734
 protein coding gene Chr17:46415633-46447744 (-)
BALB/cJ MGP_BALBcJ_G0023767
 protein coding gene Chr17:45984690-46015081 (-)
C3H/HeJ MGP_C3HHeJ_G0023531
 protein coding gene Chr17:47146581-47178334 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024210
 protein coding gene Chr17:49263374-49295399 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021660
 protein coding gene Chr17:42882258-42914697 (-)
CAST/EiJ MGP_CASTEiJ_G0023012
 protein coding gene Chr17:47269919-47302728 (-)
CBA/J MGP_CBAJ_G0023507
 protein coding gene Chr17:51016407-51058716 (-)
DBA/2J MGP_DBA2J_G0023633
 protein coding gene Chr17:44870846-44901902 (-)
FVB/NJ MGP_FVBNJ_G0023600
 protein coding gene Chr17:44472784-44506257 (-)
LP/J MGP_LPJ_G0023714
 protein coding gene Chr17:47886308-47920017 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023629
 protein coding gene Chr17:50586207-50624746 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024255
 protein coding gene Chr17:46764924-46797527 (-)
PWK/PhJ MGP_PWKPhJ_G0022757
 protein coding gene Chr17:44186777-44220250 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022572
 protein coding gene Chr17:43665387-43699594 (-)
WSB/EiJ MGP_WSBEiJ_G0023077
 protein coding gene Chr17:47316283-47350465 (-)



Homology
more
  • Human Ortholog
    POLH, DNA polymerase eta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    POLH, DNA polymerase eta
  • Synonyms
    RAD30, RAD30A, XP-V, XPV
  • Links
    NCBI Gene ID: 5429
    neXtProt AC: NX_Q9Y253
    UniProt: Q9Y253

  • Chr Location
    6p21.1; chr6:43576185-43620523 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Polh mouse models; 2 with human POLH associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
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
less
  • Phenotype Summary
    7 phenotypes from 4 alleles in 4 genetic backgrounds
    2 phenotypes from multigenic genotypes
    26 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.
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
less
  • All GO Annotations
    21
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    724
  • Tissues
    12
  • cDNA Data
    14
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 80905 NCBI Gene Model | MGI Sequence Detail 31287 C57BL/6J ±  kb
    transcript NM_030715 RefSeq | MGI Sequence Detail 3234 C57BL/6  
    polypeptide Q9JJN0 UniProt | EBI | MGI Sequence Detail 694 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 14
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 2
      Diseases 3
      Gene Ontology 7
      Phenotypes 26
    • 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:268403 Zhou L, et al., Role of FEN1 S187 phosphorylation in counteracting oxygen-induced stress and regulating postnatal heart development. FASEB J. 2017 Jan;31(1):132-147
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory