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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
Location & Maps
more
  • Sequence Map
    Chr1:78101267-78197134 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      95868 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PAX3, paired box 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PAX3, paired box 3
    Orthology source: HomoloGene
  • Synonyms
    CDHS, HUP2, WS1, WS3
  • Links
    NCBI Gene ID: 5077
    neXtProt AC: NX_P23760

  • Chr Location
    2q35; chr2:222199887-222321263 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Pax3 mouse models; 4 with human PAX3 associations

Human Disease Mouse Models
       Rhabdomyosarcoma 2; RMS2   OMIM: 268220 View 4 models
Waardenburg Syndrome, Type 1; WS1   OMIM: 193500 View 6 models
Waardenburg Syndrome, Type 3; WS3   OMIM: 148820 View 5 "NOT" models
       Neural Tube Defects, Susceptibility To; NTD   OMIM: 182940 View 1 model
       Craniofacial-Deafness-Hand Syndrome; CDHS   OMIM: 122880
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    162 phenotypes from 32 alleles in 38 genetic backgrounds
    89 phenotypes from multigenic genotypes
    5 images
    241 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    41
  • Chemically and radiation induced
    1
  • Chemically induced (ENU)
    5
  • Chemically induced (other)
    1
  • Radiation induced
    5
  • Spontaneous
    6
  • Targeted
    23
  • Genomic Mutations
    3 involving Pax3
  • Incidental Mutations
Effects on homzygotes 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
  • 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 OTTMUSG00000037633 VEGA Gene Model | MGI Sequence Detail 95868 C57BL/6J ±  kb
transcript OTTMUST00000097090 VEGA | MGI Sequence Detail 3078 Not Applicable  
polypeptide OTTMUSP00000054372 VEGA | MGI Sequence Detail 484 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    515 from dbSNP Build 137
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 94
    Genomic 2
    cDNA 49
    Primer pair 14
    Other 29

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-13146, MGD-MRK-13155, MGD-MRK-14511, MGI:4460116
References
more
  • Summaries
    All 649
    Developmental Gene Expression 381
    Diseases 8
    Gene Ontology 23
    Phenotypes 241
  • Earliest
    J:12957 Russell WL, Splotch, a new mutation in the house mouse, Mus musculus. Genetics. 1947;32:102
  • Latest
    J:227021 Mallika C, et al., Gbx2 is essential for maintaining thalamic neuron identity and repressing habenular characters in the developing thalamus. Dev Biol. 2015 Nov 1;407(1):26-39

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory