Pax3
Gene Detail

Symbol Name ID

Pax3 paired box gene 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; chr2:223064606-223163715 (-)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human PAX3

Alleles and phenotypes

All alleles(32) : Targeted(20) Spontaneous(5) Chemically induced(3) Radiation induced(5)
 

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 (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (37 annotations)

Process	cell migration, cell proliferation, ...
Component	nucleus, transcription factor complex
Function	chromatin binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (336 records)
Data Summary: Results (792)    Tissues (260)    Images (262)
Theiler Stages: 2, 3, 11, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 25, 28

Assay Type	Results
Immunohistochemistry	47
RNA in situ	642
Northern blot	12
RT-PCR	87
RNase protection	4

cDNA source data(35)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(82) Genomic(2) cDNA(47) Primer pair(13) Other(20)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000037633 (Evidence)
Ensembl Gene Model	ENSMUSG00000004872 (Evidence)
Entrez Gene	18505 (Evidence)
UniGene	1371
DFCI	TC1583151, TC1616131, TC1653160
DoTS	DT.101133224, DT.87039229
NIA Mouse Gene Index	U126577
Consensus CDS Project	CCDS15082.1, CCDS48294.1
International Mouse Knockout Project Status	Pax3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000037633	VEGA Gene Model | MGI Sequence Detail	95868	C57BL/6J
transcript	OTTMUST00000097090	VEGA | MGI Sequence Detail	3078	Not Applicable
polypeptide	OTTMUSP00000054372	VEGA | MGI Sequence Detail	484	Not Applicable

All sequences(45) RefSeq(4) UniProt(5)

Polymorphisms

All PCR and RFLP(7) : PCR(1) RFLP(6) SNPs(365 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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 transcription repressor DNA-binding
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:193269 Barlow AJ, et al., Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis. Hum Mol Genet. 2013 Mar 15;22(6):1206-17
All references(571)

Other accession IDs

MGD-MRK-13146, MGD-MRK-13155, MGD-MRK-14511