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
- Is predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in anatomical structure development and regulation of transcription by RNA polymerase II. Acts upstream of or within vestibular receptor cell development and vestibular reflex. Predicted to be located in nucleus. 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
- Comparative Information
-
- All Expression Data
- 43 figures from 29 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu596 (10 images)
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