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Gene: PAX3 (paired box 3) Homo sapiens
Symbol: PAX3
Name: paired box 3
Description: Exhibits sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Localizes to the nucleoplasm. Implicated in Waardenburg syndrome type 3; Waardenburg's syndrome; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CDHS; HUP2; MGC120381; MGC120382; MGC120383; MGC120384; MGC134778; paired box homeotic gene 3; paired box protein Pax-3; paired domain gene 3; paired domain gene HuP2; transcriptional factor PAX3; WS1; WS3
Mus musculus (house mouse) : Pax3 (paired box 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pax3 (paired box 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pax3 (paired box 3)
Pan paniscus (bonobo/pygmy chimpanzee) : PAX3 (paired box 3)
Canis lupus familiaris (dog) : PAX3 (paired box 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pax3 (paired box 3)
Sus scrofa (pig) : PAX3 (paired box 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh382222,199,887 - 222,298,998 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372223,064,606 - 223,163,715 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,772,851 - 222,871,944 (-)NCBINCBI36hg18NCBI36
Build 342222,891,555 - 222,989,205NCBI
Celera2216,832,726 - 216,931,738 (-)NCBI
Cytogenetic Map2q36.1NCBI
HuRef2214,918,697 - 215,017,780 (-)NCBIHuRef
CHM1_12223,071,095 - 223,170,215 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on PAX3
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1351352
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.