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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
paired box 3MIM:606597Ensembl:ENSG00000135903HGNC:HGNC:8617PA329572q36.1

GO terms in PAX3


Term TypeEvidence TypeGO Term IDGO Des.
MFISAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFISMGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFNASGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFTASGO:0003700DNA-binding transcription factor activity
MFIPIGO:0005515protein binding
MFIDAGO:0043565sequence-specific DNA binding
MFIEAGO:0071837HMG box domain binding
BPTASGO:0006366transcription by RNA polymerase II
BPTASGO:0006915apoptotic process
BPIEAGO:0007399nervous system development
BPIEAGO:0007517muscle organ development
BPTASGO:0007605sensory perception of sound
BPTASGO:0009887animal organ morphogenesis
BPIDAGO:0045893positive regulation of transcription, DNA-templated
BPIDAGO:0045944positive regulation of transcription by RNA polymerase II
CCIDAGO:0005654nucleoplasm
CCTASGO:0005654nucleoplasm

Gene expression in normal tissue: PAX3

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in PAX3


DatabasePathway IDPathway Des.
wikipathwaysWP2064Neural Crest Differentiation
wikipathwaysWP2858Ectoderm Differentiation
pidrb_1pathwayRegulation of retinoblastoma protein
kegghsa05202Transcriptional misregulation in cancer - Homo sapiens (human)
reactomeR-HSA-3214847HATs acetylate histones
reactomeR-HSA-3247509Chromatin modifying enzymes
reactomeR-HSA-4839726Chromatin organization

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD599Salermide2
iGMDRD701NVP-AUY9224
iGMDRD781Sirolimus3
iGMDRD85Ursolic acid2
iGMDRD237ABT-7512
iGMDRD351GW843682X5
iGMDRD123Isoevodiamine7
iGMDRD511CHEMBL3993793
iGMDRD945ML2142
iGMDRD121GMX17782
iGMDRD202Curcumin2
iGMDRD103SN-385
iGMDRD105Triptolide2
iGMDRD289Parthenolide3
iGMDRD187BRD98762
iGMDRD870BRD636101
iGMDRD188Piperlongumine2
iGMDRD888Compound 442
iGMDRD506Fedratinib3
iGMDRD64Parbendazole2
iGMDRD886Compound 1541A3

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PAX3

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