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
- Enables sequence-specific DNA binding activity. Involved in nervous system development. Acts upstream of or within several processes, including embryonic organ morphogenesis; nervous system development; and pronephros development. Located in 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; renal Wilms' tumor; and renal coloboma syndrome. Orthologous to human PAX2 (paired box 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 813 figures from 566 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb378 (47 images)
Wild Type Expression Summary
- All Phenotype Data
- 70 figures from 38 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 |
1 - 2 of 2
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| coloboma | pax2atu29a/tu29a | standard conditions | (2) |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | 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:A0A8M2B3N2 | InterPro | 421 | ||||||
| UniProtKB:A0A8M9PXM3 | InterPro | 296 | ||||||
| UniProtKB:A0A8M9Q9I1 | InterPro | 410 | ||||||
| UniProtKB:A0A8M6Z1K8 | InterPro | 461 | ||||||
| UniProtKB:A0A8M6Z270 | InterPro | 515 |
1 - 5 of 31 Show all
- Genome Browsers
Interactions and Pathways
No data available
Plasmids