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Pax3 Gene Detail
Summary
  • Symbol
    Pax3
  • Name
    paired box 3
  • Synonyms
    Pax-3, Splchl2
  • Feature Type
    protein coding gene
  • IDs
    MGI:97487
    NCBI Gene: 18505
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:78077904-78173771 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 39.79 cM
  • Mapping Data
    44 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2011 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    6
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97487
 protein coding gene Chr1:78077904-78173773 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016196
 protein coding gene Chr1:78810190-78912084 (-)
A/J MGP_AJ_G0016179
 protein coding gene Chr1:76053804-76153953 (-)
AKR/J MGP_AKRJ_G0016136
 protein coding gene Chr1:78108331-78206706 (-)
BALB/cJ MGP_BALBcJ_G0016134
 protein coding gene Chr1:76136205-76236842 (-)
C3H/HeJ MGP_C3HHeJ_G0015965
 protein coding gene Chr1:78489075-78586435 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016587
 protein coding gene Chr1:81836367-81940203 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014308
 protein coding gene Chr1:71492380-71588766 (-)
CAST/EiJ MGP_CASTEiJ_G0015549
 protein coding gene Chr1:77855151-78072849 (-)
CBA/J MGP_CBAJ_G0015938
 protein coding gene Chr1:84519501-84625467 (-)
DBA/2J MGP_DBA2J_G0016039
 protein coding gene Chr1:75348261-75444402 (-)
FVB/NJ MGP_FVBNJ_G0016042
 protein coding gene Chr1:74531032-74627836 (-)
LP/J MGP_LPJ_G0016111
 protein coding gene Chr1:79946902-80048899 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016062
 protein coding gene Chr1:87785894-87892607 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016634
 protein coding gene Chr1:78250489-78349724 (-)
PWK/PhJ MGP_PWKPhJ_G0015336
 protein coding gene Chr1:74830232-74928795 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015114
 protein coding gene Chr1:77593466-77693630 (-)
WSB/EiJ MGP_WSBEiJ_G0015611
 protein coding gene Chr1:78043352-78143582 (-)



Homology
more
  • Human Ortholog
    PAX3, paired box 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAX3, paired box 3
  • Synonyms
    CDHS, HUP2, PAX-3, WS1, WS3
  • Links
    NCBI Gene ID: 5077
    neXtProt AC: NX_P23760
    UniProt: P23760

  • Chr Location
    2q36.1; chr2:222199887-222298998 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Pax3 mouse models; 5 with human PAX3 associations

Human Disease Mouse Models
      
IDs
 View 6 models
      
IDs
 View 1 model
      
IDs
 View 4 models
IDs
IDs
IDs
 View 5 "NOT" models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    131 phenotypes from 28 alleles in 41 genetic backgrounds
    201 phenotypes from multigenic genotypes
    5 images
    360 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.
Effects on homozygotes for mutations in this gene vary in severity and include embryonic to perinatal death, malformations of neural tube, spinal ganglia, heart, vertebral column, hindbrain and limb musculature. Heterozygotes have white belly spots and variable spotting on the back and extremeties.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    61
  • GO References
    23
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
    2249
  • Tissues
    423
  • cDNA Data
    44
  • Literature Summary
    516
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004872 Ensembl Gene Model | MGI Sequence Detail 95868 C57BL/6J ±  kb
    transcript ENSMUST00000004994 Ensembl | MGI Sequence Detail 3078 Not Applicable  
    polypeptide ENSMUSP00000004994 Ensembl | MGI Sequence Detail 484 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 145
      Genomic 2
      cDNA 57
      Primer pair 26
      Other 60

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13146, MGD-MRK-13155, MGD-MRK-14511, MGI:4460116
    References
    more
    • Summaries
      All 891
      Developmental Gene Expression 516
      Diseases 7
      Gene Ontology 23
      Phenotypes 360
    • Earliest
      J:12957 Russell WL, Splotch, a new mutation in the house mouse, Mus musculus. Genetics. 1947;32:102 (Abstr.)
    • Latest
      J:354197 Dumoulin A, et al., A cell-autonomous role for primary cilium-mediated signaling in long-range commissural axon guidance. Development. 2024 Sep 1;151(17)
    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