Gene
pax3a
- ID
- ZDB-GENE-980526-52
- Name
- paired box 3a
- Symbol
- pax3a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within enteric nervous system development; neural crest cell migration; and xanthophore differentiation. Located in nucleus. Is expressed in several structures, including muscle; nervous system; neural crest; neural tube; and paraxial mesoderm. Human ortholog(s) of this gene implicated in Waardenburg syndrome type 1; Waardenburg syndrome type 3; Waardenburg's syndrome; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. Orthologous to human PAX3 (paired box 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 73 figures from 47 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92547 (24 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| alveolar rhabdomyosarcoma | Alliance | Rhabdomyosarcoma 2, alveolar | 268220 |
| craniofacial-deafness-hand syndrome | Alliance | Craniofacial-deafness-hand syndrome | 122880 |
| Waardenburg syndrome type 1 | Alliance | Waardenburg syndrome, type 1 | 193500 |
| Waardenburg syndrome type 3 | Alliance | Waardenburg syndrome, type 3 | 148820 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017970 | Homeobox, conserved site |
| Domain | IPR001356 | Homeodomain |
| Domain | IPR001523 | Paired domain |
| Domain | IPR022106 | Paired box protein 7, C-terminal |
| Domain | IPR043182 | Paired DNA-binding domain |
| Family | IPR043565 | PAX family |
| Homologous_superfamily | IPR009057 | Homedomain-like superfamily |
| Homologous_superfamily | IPR036388 | Winged helix-like DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Paired box protein 7, C-terminal | Paired DNA-binding domain | Paired domain | PAX family | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:O57416
|
509 | ||||||||
|
UniProtKB:A0A8M6Z8D2
|
486 | ||||||||
|
UniProtKB:A0A8M6Z068
|
487 |
Interactions and Pathways
No data available
Plasmids