Available structures
PDBOrtholog search: PDBe RCSB
Aliases PAX3, CDHS, HUP2, WS1, WS3, Pax3, paired box 3
External IDs OMIM: 606597 MGI: 97487 HomoloGene: 22494 GeneCards: PAX3
RNA expression pattern

More reference expression data
Species Human Mouse









RefSeq (mRNA)


RefSeq (protein)


Location (UCSC) Chr 2: 222.2 – 222.3 Mb Chr 1: 78.1 – 78.2 Mb
PubMed search [1] [2]
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PAX3 is a gene that belongs to the paired box (PAX) family of transcription factors.[3] This gene was formerly known as splotch.[4] PAX3 has been identified with ear, eye and facial development.[5] Mutations in it can cause Waardenburg syndrome types 1 and 3 . It is expressed in early embryonic phases in dermatomyotome of paraxial mesoderm which it helps to demarcate. In that way PAX3 contributes to early striated muscle development since all myoblasts are derived from dermatomyotome of paraxial mesoderm.

Alternative splicing results in transcripts encoding isoforms with different C-termini.[3]

Role in rhabdomyosarcoma

A PAX3/FKHR fusion gene is often associated with the alveolar type of rhabdomyosarcoma,[6] a kind of cancer arisen from striated muscle cells. Translocation between chromosomes 2 & 13 produce fusion protein PAX3/FKHR which serves as a tumor marker in this type of RMS.Also in ARMS expressing PAX3/FKHR increased risk of metastasis to bone marrow and hence increased rate of failure and death were seen.


PAX3 has been shown to interact with MEOX1,[7] MEOX2[7] and SOX10[8][9] as well as phosphatidylcholine transfer protein (PCTP).[10] PAX3 has an important relationship with c-met in myogenesis; if PAX3 is mutated, c-met expression may be inhibited or prevented altogether resulting in a lack of lateral migration.


  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 1 2 "Entrez Gene: PAX3 paired box 3 [Homo sapiens]".
  4. "Entrez Gene: Pax3 paired box gene 3 [Mus musculus]".
  6. Begum S, Emami N, Emani N, et al. (March 2005). "Cell-type-specific regulation of distinct sets of gene targets by Pax3 and Pax3/FKHR". Oncogene. 24 (11): 1860–72. doi:10.1038/sj.onc.1208315. PMID 15688035.
  7. 1 2 Stamataki D, Kastrinaki M, Mankoo BS, Pachnis V, Karagogeos D (June 2001). "Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors". FEBS Lett. 499 (3): 274–8. doi:10.1016/S0014-5793(01)02556-X. PMID 11423130.
  8. Lang D, Epstein JA (April 2003). "Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer". Hum. Mol. Genet. 12 (8): 937–45. doi:10.1093/hmg/ddg107. PMID 12668617.
  9. Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M (August 2000). "Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome". Hum. Mol. Genet. 9 (13): 1907–17. doi:10.1093/hmg/9.13.1907. PMID 10942418.
  10. Kanno K, Wu MK, Agate DA, Fanelli BK, Wagle N, Scapa EF, Ukomadu C, Cohen DE (October 2007). "Interacting proteins dictate function of the minimal START domain phosphatidylcholine transfer protein/StarD2.". J. Biol. Chem. 282 (42): 30728–36. doi:10.1074/jbc.M703745200. PMID 17704541.

Further reading

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