Gene
pax5
- ID
- ZDB-GENE-001030-2
- Name
- paired box 5
- Symbol
- pax5 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in vestibular receptor cell development and vestibular reflex. Predicted to localize to nuclear chromatin. Is expressed in several structures, including B cell; chordo neural hinge; hindbrain neural keel; midbrain hindbrain boundary neural keel; and nervous system. Human ortholog(s) of this gene implicated in acute lymphoblastic leukemia; focal segmental glomerulosclerosis 7; and renal coloboma syndrome. Orthologous to several human genes including PAX5 (paired box 5).
- Genome Resources
- Note
- None
- All Expression Data
- 38 figures from 25 publications
- Cross-Species Comparison
- High Throughput Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Kwak et al., 2006
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| {Leukemia, acute lymphoblastic, susceptibility to, 3} | 615545 |
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 | Homeobox-like domain superfamily |
| Homologous_superfamily | IPR036388 | Winged helix-like DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Homeobox-like domain superfamily | Paired-box protein 2 C-terminal | Paired DNA-binding domain | Paired domain | PAX family | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QGF8
|
396 | ||||||
|
UniProtKB:F1Q6J2
|
395 | ||||||
|
UniProtKB:O93371
|
369 |
Interactions and Pathways
No data available
Plasmids
No data available