Gene: PAX3

Alternate names for this Gene: CDHS|HUP2|WS1|WS3

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q36.1

Description of this Gene: paired box 3

Type of Gene: protein-coding

rs16863633 in PAX3 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs77177529 in PAX3 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs12618431 in PAX3 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs2118666 in PAX3 gene and Processing speed PMID 25869804 2016 GWAS for executive function and processing speed suggests involvement of the CADM2 gene.

rs16863633 in PAX3 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs876657717 in PAX3 gene and Waardenburg Syndrome PMID 26512583 2015 Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.

PMID 9654197 1998 Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

PMID 1349198 1992 Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

rs1553575159 in PAX3 gene and Waardenburg Syndrome Type 1 PMID 29407415 2018 Waardenburg syndrome: Novel mutations in a large Brazilian sample.