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 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 branchiomeric skeletal muscle development and regulation of response to tumor cell. Predicted to be located in nucleus. Is expressed in several structures, including dermomyotome; hindbrain neural keel; neural crest; skeletal muscle; and trunk. Human ortholog(s) of this gene implicated in Waardenburg syndrome; Waardenburg syndrome type 1; Waardenburg syndrome type 3; alveolar rhabdomyosarcoma; and craniofacial-deafness-hand syndrome. 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