PAX3 (paired box 3) - Rat Genome Database

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Keyword

Gene: PAX3 (paired box 3) Homo sapiens

Symbol:

PAX3

Name:

paired box 3

Description:

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

CDHS; HUP2; MGC120381; MGC120382; MGC120383; MGC120384; MGC134778; OTTHUMP00000164207; OTTHUMP00000164208; OTTHUMP00000164209; OTTHUMP00000202744; OTTHUMP00000202745; OTTHUMP00000202746; OTTHUMP00000205137; OTTHUMP00000224703; paired box homeotic gene 3; paired box protein Pax-3; paired domain gene 3; paired domain gene HuP2; WS1; WS3

Orthologs:

Mus musculus : Pax3 (paired box gene 3) MGI
Rattus norvegicus : Pax3 (paired box 3)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	2	222,445,308 - 222,544,417	-	NCBI
Human Genome Assembly HuRef	2	214,918,697 - 215,017,780	-	NCBI
Human Genome Assembly GRCh37	2	223,064,606 - 223,163,715	-	NCBI
Human Genome Assembly Build 36	2	222,772,851 - 222,871,944	-	NCBI
Human Cytogenetic Map	2	q35		ENTREZGENE
Human Genome Assembly	2	222,891,555 - 222,989,205		NCBI