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Pax3
Gene Detail
 Symbol
Name
ID
Pax3
paired box 3
MGI:97487
Synonyms Pax-3
Feature Type protein coding gene
Genetic Map
Chromosome 1
39.79 cM
Detailed Genetic Map ± 1 cM


Mapping data(43)
Sequence Map
Chr1:78101267-78197134 bp, - strand
From VEGA annotation of GRCm38

  95868 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:22494  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: paired box protein PAX
Gene Tree: Pax3

Human
homologs
Human Homolog PAX3, paired box 3
NCBI Gene ID 5077
neXtProt AC  NX_P23760
Human Synonyms  CDHS, HUP2, WS1, WS3
Human Chr (Location)  2q35; chr2:222199887-222298996 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human PAX3
Alleles
and
phenotypes
All alleles(34) : Chemically and radiation induced(1) Chemically induced (ENU)(4) Radiation induced(4) Spontaneous(5) Targeted(20)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Pax3 (3)    Alleles Annotated to Human Diseases(4)    Phenotype Images(1)
Gene Ontology
(GO)
classifications
All GO classifications: (42 annotations)
Process cardiac muscle cell differentiation, cell migration, ...
Component nucleus, transcription factor complex
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (355 records)
Data Summary: Results (837)    Tissues (272)    Images (287)
Theiler Stages: 2, 3, 11, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 25, 28
Assay TypeResults
Immunohistochemistry 50
RNA in situ 682
Northern blot 12
Western blot 2
RT-PCR 87
RNase protection 4
cDNA source data(35)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(84) Genomic(2) cDNA(47) Primer pair(13) Other(22)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000037633 (Evidence)
Ensembl Gene ModelENSMUSG00000004872 (Evidence)
Entrez Gene18505 (Evidence)
UniGene1371
DFCITC1583151, TC1616131, TC1653160
DoTSDT.101133224, DT.87039229
NIA Mouse Gene IndexU126577
Consensus CDS ProjectCCDS15082.1, CCDS48294.1
International Mouse Knockout Project StatusPax3
Sequences
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 sequences
All sequences(49) RefSeq(8) UniProt(5)
Polymorphisms All PCR and RFLP(7) : PCR(1) RFLP(6) SNPs within 2kb(515 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017970 Homeobox, conserved site
InterPro IPR001356 Homeodomain
InterPro IPR009057 Homeodomain-like
InterPro IPR022106 Paired box protein 7
InterPro IPR001523 Paired domain
InterPro IPR011991 Winged helix-turn-helix DNA-binding domain
Protein Ontology PR:000012316 paired box protein Pax-3
References (Earliest) J:12957 Russell WL, Splotch, a new mutation in the house mouse, Mus musculus. Genetics. 1947;32:102
(Latest) J:208787 Kikuchi K, et al., Cell-cycle dependent expression of a translocation-mediated fusion oncogene mediates checkpoint adaptation in rhabdomyosarcoma. PLoS Genet. 2014 Jan;10(1):e1004107
All references(609)
Other
accession IDs
MGD-MRK-13146, MGD-MRK-13155, MGD-MRK-14511

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
07/15/2014
MGI 5.18
The Jackson Laboratory