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
~14 min read
Encyclopedic overview
9 sectionsContents
- Transcript splicing
- Protein structure and function
- Expression during development
- Germline mutations in disease
- Mutations in human cancer
- Notes
- References
- Further reading
- External links
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.
== Transcript splicing == Alternative splicing and processing generates multiple PAX3 isoforms that have been detected at the mRNA level. PAX3e is the longest isoform and consists of 10 exons that encode a 505 amino acid protein. In other mammalian species, including mouse, the longest mRNAs correspond to the human PAX3c and PAX3d isoforms, which consist of the first 8 or 9 exons of the PAX3 gene, respectively. Shorter PAX3 isoforms include mRNAs that skip exon 8 (PAX3g and PAX3h) and mRNAs containing 4 or 5 exons (PAX3a and PAX3b). In limited studies comparing isoform expression, PAX3d is expressed at the highest levels. From a functional standpoint, PAX3c, PAX3d, and PAX3h stimulate activities such as cell growth whereas PAX3e and PAX3g inhibit these activities, and PAX3a and PAX3b show no activity or inhibit these endpoints.
Excerpted from Wikipedia’s “PAX3” article, available under the CC BY-SA 4.0 licence.