Gene
pax2a
- ID
- ZDB-GENE-990415-8
- Name
- paired box 2a
- Symbol
- pax2a Nomenclature History
- Previous Names
-
- Pax-2
- pax-b
- pax2.1
- Pax2.1
- pax2a1
- paxb
- cb378 (1)
- no isthmus
- noi
- pax[zf-b]
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Exhibits sequence-specific DNA binding activity. Involved in several processes, including animal organ development; cilium assembly; and nervous system development. Localizes to nucleus. Is expressed in several structures, including immature eye; mesoderm; nervous system; neural keel; and pronephros. Used to study coloboma. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 7 and renal coloboma syndrome. Orthologous to human PAX2 (paired box 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 783 figures from 548 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb378 (47 images)
Wild Type Expression Summary
- All Phenotype Data
- 64 figures from 36 publications
- 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 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
coloboma | pax2atu29a/tu29a | standard conditions | (2) |
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:Q90268
|
410 | ||||||
UniProtKB:B8JJS3
|
400 | ||||||
UniProtKB:F1R5S6
|
292 | ||||||
UniProtKB:F1R6E2
|
390 | ||||||
UniProtKB:F1QKT4
|
410 | ||||||
UniProtKB:A0A0R4IAI2
|
417 | ||||||
UniProtKB:B8JJS4
|
406 | ||||||
UniProtKB:F1Q6N9
|
381 | ||||||
UniProtKB:F1QEK2
|
396 | ||||||
UniProtKB:F1QHP2
|
375 |
Interactions and Pathways
No data available
Plasmids