Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

PAX3

contributors: npt/pgu/shn - updated : 05-07-2018

HGNC name	paired box 3
HGNC id	8617

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CDHS , WS1 , WS3 , ARMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion translocation     to FOXO1/FKHR in alveolar rhabdomyosarcoma with t(2;13)(q35,q14), promoting malignant phenotypes such as proliferation, motility, and to suppress differentiation tumoral fusion translocation     t(2;2)(q35;p23), which generates a fusion protein composed of PAX3 and the nuclear receptor coactivator NCOA1, in alveolar rhabdomyosarcoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

heterozygous Pax3-FKHR knock-in mice show developmental abnormalities: intraventricular septum defects, tricuspid valve insufficiency, and diaphragm defects, which caused congestive heart failure leading to perinatal death