Gene
pax3b
- ID
- ZDB-GENE-080917-53
- Name
- paired box 3b
- Symbol
- pax3b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have sequence-specific DNA binding activity. Involved in branchiomeric skeletal muscle development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Waardenburg syndrome type 3; Waardenburg's syndrome; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. Is expressed in several structures, including dermomyotome; hindbrain neural keel; midbrain neural rod; neural crest; and trunk. Orthologous to human PAX3 (paired box 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Minchin et al., 2013
- Cross-Species Comparison
- Alliance
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:F1Q9S0
|
469 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available