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Gene: PAX3 (paired box 3) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PAX3
Alliance Gene
NCBI 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



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