Gene
pax2b
- ID
- ZDB-GENE-001030-4
- Name
- paired box 2b
- Symbol
- pax2b Nomenclature History
- Previous Names
-
- pax2.2
- Pax2.2
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have DNA binding activity. Involved in peripheral nervous system development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 7 and renal coloboma syndrome. Is expressed in several structures, including midbrain hindbrain boundary neural keel; midbrain hindbrain boundary neural rod; nervous system; optic vesicle; and spinal cord neural tube. Orthologous to human PAX2 (paired box 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 17 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| focal segmental glomerulosclerosis 7 | Alliance | Glomerulosclerosis, focal segmental, 7 | 616002 |
| renal coloboma syndrome | Alliance | Papillorenal syndrome | 120330 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001523 | Paired domain |
| Domain | IPR022130 | Paired-box protein 2 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 | Paired-box protein 2 C-terminal | Paired DNA-binding domain | Paired domain | PAX family | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:O93370
|
386 |
Interactions and Pathways
No data available
Plasmids
No data available