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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:24310572-24365611 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 16.43 cM, cytoband B
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1448 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97492
 protein coding gene Chr2:24310563-24365611 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAX8, paired box 8
  • Synonyms
    PAX-8
  • Links
    NCBI Gene ID: 7849
    neXtProt AC: NX_Q06710
    UniProt: Q06710

  • Chr Location
    2q14.1; chr2:113215997-113278921 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pax8 mouse models; 2 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
    88 phenotypes from 4 alleles in 6 genetic backgrounds
    63 phenotypes from multigenic genotypes
    98 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.
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
    81
  • GO References
    21
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
    1199
  • Tissues
    233
  • cDNA Data
    40
  • Literature Summary
    136
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 68
      Genomic 10
      cDNA 42
      Primer pair 6
      Other 10

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13151, MGD-MRK-13160
    References
    more
    • Summaries
      All 274
      Developmental Gene Expression 136
      Diseases 5
      Gene Ontology 21
      Phenotypes 98
    • 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:357549 Stransky LA, et al., Toward a CRISPR-based mouse model of Vhl-deficient clear cell kidney cancer: Initial experience and lessons learned. Proc Natl Acad Sci U S A. 2024 Oct 8;121(41):e2408549121
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory