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Pax8 Gene Detail
Summary
  • Symbol
    Pax8
  • Name
    paired box 8
  • Synonyms
    Pax-8
  • Feature Type
    protein coding gene
  • IDs
    MGI:97492
    NCBI Gene: 18510
  • Gene Overview
    MyGene.info: PAX8
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:24420560-24475599 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 16.43 cM, cytoband B
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    321 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97492
protein coding gene Chr2:24420551-24480095 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025410
protein coding gene Chr2:22228352-22285621 (-)
A/J MGP_AJ_G0025387
protein coding gene Chr2:21367975-21425012 (-)
AKR/J MGP_AKRJ_G0025357
protein coding gene Chr2:22099844-22154726 (-)
BALB/cJ MGP_BALBcJ_G0025383
protein coding gene Chr2:21477913-21534727 (-)
C3H/HeJ MGP_C3HHeJ_G0025144
protein coding gene Chr2:22033589-22090509 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025827
protein coding gene Chr2:22934897-23007572 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023238
protein coding gene Chr2:20294419-20349502 (-)
CAST/EiJ MGP_CASTEiJ_G0024607
protein coding gene Chr2:21871091-21935492 (-)
CBA/J MGP_CBAJ_G0025122
protein coding gene Chr2:23739579-23798488 (-)
DBA/2J MGP_DBA2J_G0025255
protein coding gene Chr2:21226971-21282641 (-)
FVB/NJ MGP_FVBNJ_G0025217
protein coding gene Chr2:20966998-21022564 (-)
LP/J MGP_LPJ_G0025341
protein coding gene Chr2:22169128-22224234 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025248
protein coding gene Chr2:23977374-24034885 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025886
protein coding gene Chr2:22031444-22087304 (-)
PWK/PhJ MGP_PWKPhJ_G0024355
protein coding gene Chr2:21009488-21066013 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024155
protein coding gene Chr2:22151617-22216191 (-)
WSB/EiJ MGP_WSBEiJ_G0024676
protein coding gene Chr2:22097385-22152234 (-)



Homology
more
  • Human Ortholog
    PAX8, paired box 8
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PAX8, paired box 8
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 7849
    neXtProt AC: NX_Q06710
    UniProt: Q06710

  • Chr Location
    2q14.1; chr2:113215997-113278950 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pax8 mouse models; 1 with human PAX8 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
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    87 phenotypes from 4 alleles in 6 genetic backgrounds
    65 phenotypes from multigenic genotypes
    60 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.
Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age.
Gene Ontology
(GO)
Classifications
less
  • 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 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026976 Ensembl Gene Model | MGI Sequence Detail 55040 C57BL/6J ±  kb
    transcript ENSMUST00000028355 Ensembl | MGI Sequence Detail 2560 Not Applicable  
    polypeptide ENSMUSP00000028355 Ensembl | MGI Sequence Detail 457 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 59
      Genomic 10
      cDNA 40
      Primer pair 5
      Other 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13151, MGD-MRK-13160
    References
    more
    • Summaries
      All 199
      Developmental Gene Expression 100
      Diseases 5
      Gene Ontology 18
      Phenotypes 60
    • Earliest
      J:72 Plachov D, et al., Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development. 1990 Oct;110(2):643-51
    • Latest
      J:266277 Joseph DB, et al., In vivo replacement of damaged bladder urothelium by Wolffian duct epithelial cells. Proc Natl Acad Sci U S A. 2018 Aug 14;115(33):8394-8399

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory