Tbio PAX3 Paired box protein Pax-3

Protein Summary

Description

Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10 (PubMed:21965087). 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]

Uniprot Accession IDs

• P23760
• G5E9C1
• Q16448
• Q494Z3
• Q494Z4
• Q53T90
• Q6GSJ9
• Q86UQ2
• Q86UQ3

Gene Name

• PAX3

Ensembl ID

• ENST00000258387
• ENSP00000258387
• ENSG00000135903
• ENST00000336840
• ENSP00000338767
• ENST00000344493
• ENSP00000342092
• ENST00000350526
• ENSP00000343052
• ENST00000392069
• ENSP00000375921
• ENST00000392070
• ENSP00000375922
• ENST00000409551
• ENSP00000386750
• ENST00000409828
• ENSP00000386817

Symbol

• HUP2
• WS1
• WS3
• CDHS
• HUP2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0.88
protein domain	0.85
microRNA	0.83
cell type or tissue	0.8
PubMedID	0.8

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 819.05   (req: < 5)

Gene RIFs: 170   (req: <= 3)

Antibodies: 500   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 819.05   (req: >= 5)

Gene RIFs: 170   (req: > 3)

Antibodies: 500   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0