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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| paired box 3 | MIM:606597 | Ensembl:ENSG00000135903 | HGNC:HGNC:8617 | PA32957 | 2q36.1 |
GO terms in PAX3
| 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 |
| MF | IEA | GO:0071837 | HMG box domain binding |
| BP | TAS | GO:0006366 | transcription by RNA polymerase II |
| BP | TAS | GO:0006915 | apoptotic process |
| BP | IEA | GO:0007399 | nervous system development |
| BP | IEA | GO:0007517 | muscle organ development |
| BP | TAS | GO:0007605 | sensory perception of sound |
| BP | TAS | GO:0009887 | animal organ morphogenesis |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
Gene expression in normal tissue: PAX3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PAX3
| 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 |
| reactome | R-HSA-4839726 | Chromatin organization |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD599 | Salermide | 2 |
| iGMDRD701 | NVP-AUY922 | 4 |
| iGMDRD781 | Sirolimus | 3 |
| iGMDRD85 | Ursolic acid | 2 |
| iGMDRD237 | ABT-751 | 2 |
| iGMDRD351 | GW843682X | 5 |
| iGMDRD123 | Isoevodiamine | 7 |
| iGMDRD511 | CHEMBL399379 | 3 |
| iGMDRD945 | ML214 | 2 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD202 | Curcumin | 2 |
| iGMDRD103 | SN-38 | 5 |
| iGMDRD105 | Triptolide | 2 |
| iGMDRD289 | Parthenolide | 3 |
| iGMDRD187 | BRD9876 | 2 |
| iGMDRD870 | BRD63610 | 1 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD888 | Compound 44 | 2 |
| iGMDRD506 | Fedratinib | 3 |
| iGMDRD64 | Parbendazole | 2 |
| iGMDRD886 | Compound 1541A | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PAX3
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