ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Enables DNA binding activity. Involved in nervous system development. Predicted to be active 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
- 822 figures from 573 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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| coloboma | pax2atu29a/tu29a | standard conditions | (2) |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR043182 | Paired DNA-binding site |
| Domain | IPR001523 | Paired domain |
| Domain | IPR022130 | Paired-box protein 2 C-terminal |
| Family | IPR043565 | PAX family |
| Homologous_superfamily | IPR009057 | Homedomain-like superfamily |
| Homologous_superfamily | IPR036388 | Winged helix-like DNA-binding domain superfamily |
Domain Details Per Protein
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pax2a-201
(1)
|
Ensembl | 4,201 nt | ||
| mRNA |
pax2a-202
(1)
|
Ensembl | 3,050 nt | ||
| mRNA |
pax2a-203
(1)
|
Ensembl | 1,148 nt | ||
| mRNA |
pax2a-205
(1)
|
Ensembl | 1,126 nt | ||
| mRNA |
pax2a-206
(1)
|
Ensembl | 1,221 nt | ||
| mRNA |
pax2a-207
(1)
|
Ensembl | 879 nt | ||
| mRNA |
pax2a-208
(1)
|
Ensembl | 1,202 nt | ||
| mRNA |
pax2a-209
(1)
|
Ensembl | 1,190 nt | ||
| mRNA |
pax2a-210
(1)
|
Ensembl | 1,171 nt | ||
| mRNA |
pax2a-211
(1)
|
Ensembl | 1,145 nt | ||
| mRNA |
pax2a-212
(1)
|
Ensembl | 4,267 nt | ||
| mRNA |
pax2a-213
(1)
|
Ensembl | 4,246 nt | ||
| ncRNA |
pax2a-006
(1)
|
Ensembl | 323 nt |
Interactions and Pathways
No data available
Plasmids
- Genome Browsers