PAX3


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. [provided by RefSeq, Jul 2008].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:606597
PHARMGKB IDPA32957
Map Location2q36.1

GO terms in PAX3


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Term Type
Evidence Type
GO Term ID
GO Des.
MF ISA GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF ISM GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF NAS GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF TAS GO:0003700 DNA-binding transcription factor activity
MF IPI GO:0005515 protein binding
MF IDA GO:0043565 sequence-specific DNA binding
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Gene expression in normal tissue: PAX3

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined14Chromatin histone acetylation1Other, kinases1DNA replication1Cell cycle1Protein stability and degradation1Longevity regulating pathway1Stilbenoid, diarylheptanoid and gingerol biosynthesis1

Pathways in PAX3


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Database
Pathway ID
Pathway Des.
wikipathways WP2064 Neural Crest Differentiation
wikipathways WP2858 Ectoderm Differentiation
pid rb_1pathway Regulation of retinoblastoma protein
kegg hsa05202 Transcriptional misregulation in cancer - Homo sapiens (human)
reactome R-HSA-3214847 HATs acetylate histones
reactome R-HSA-3247509 Chromatin modifying enzymes
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD599 Salermide 2
iGMDRD701 NVP-AUY922 4
iGMDRD781 Sirolimus 3
iGMDRD85 Ursolic acid 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PAX3

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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