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 |
---|---|---|---|---|---|
Namepaired box 3 OMIM IDMIM:606597 Ensembl IDEnsembl:ENSG00000135903 HGNC IDHGNC:HGNC:8617 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 |
Gene expression in normal tissue: PAX3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
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 |
Gene-Drug: Aster Plot
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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No matching records found |