PAX3
Sign in to saveAlso known as CDHS, HUP2, WS1, WS3, paired box 3, PAX-3
The PAX3 (paired box gene 3) gene encodes a member of the paired box or PAX family of transcription factors. The PAX family consists of nine human (PAX1-PAX9) and nine mouse (Pax1-Pax9) members arranged into four subfamilies. Human PAX3 and mouse Pax3 are present in a subfamily along with the highly homologous human PAX7 and mouse Pax7 genes. The human PAX3 gene is located in the 2q36.1 chromosomal region, and contains 10 exons within a 100 kb region.
Gene data
PAX3- Name
- paired box 3
- Type
- protein-coding
- Aliases
- CDHS, HUP2, PAX-3, WS1, WS3
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].
via MyGene.info
Gene · Ensembl
paired box 3
- Symbol
- PAX3
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:222,199,887-222,299,011
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 22494
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/5077
- cytogenetic location
- 2q36.1
- genomic end
- 222298998
- genomic start
- 222199887
- chromosome
- human chromosome 2
via Wikidata · CC0