Gene
pax6a
- ID
- ZDB-GENE-990415-200
- Name
- paired box 6a
- Symbol
- pax6a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Involved in positive regulation of cell population proliferation; retinal cone cell differentiation; and retinal rod cell differentiation. Acts upstream of or within anterior/posterior pattern specification; brain development; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including immature eye; nervous system; neural keel; neural plate; and neural rod. Human ortholog(s) of this gene implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Orthologous to human PAX6 (paired box 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 215 figures from 162 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb280 (19 images)
- eu626 (15 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| aniridia | Alliance | Aniridia | 106210 |
| aniridia | Alliance | Cataract with late-onset corneal dystrophy | 106210 |
| anterior segment dysgenesis 5 | Alliance | Anterior segment dysgenesis 5, multiple subtypes | 604229 |
| autosomal dominant keratitis | Alliance | Keratitis | 148190 |
| bilateral optic nerve hypoplasia | Alliance | Optic nerve hypoplasia | 165550 |
| coloboma | Alliance | ?Coloboma, ocular | 120200 |
| coloboma of optic nerve | Alliance | ?Coloboma of optic nerve | 120430 |
| coloboma of optic nerve | Alliance | ?Morning glory disc anomaly | 120430 |
| Peters anomaly | Alliance | Anterior segment dysgenesis 5, multiple subtypes | 604229 |
| Foveal hypoplasia 1 | 136520 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017970 | Homeobox, conserved site |
| Domain | IPR001356 | Homeobox domain |
| Domain | IPR001523 | Paired domain |
| 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, conserved site | Homeobox domain | Homeobox-like domain superfamily | Paired DNA-binding domain | Paired domain | PAX family | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:P26630
|
437 | |||||||
|
UniProtKB:A0A8M3AP00
|
282 | |||||||
|
UniProtKB:A0A8M9P6C7
|
437 | |||||||
|
UniProtKB:A0A0R4IXU2
|
441 | |||||||
|
UniProtKB:A0A8M6YYD0
|
445 | |||||||
|
UniProtKB:A0A8M3APL7
|
419 | |||||||
|
UniProtKB:A0A8M3B718
|
433 | |||||||
|
UniProtKB:A0A8M3AZJ7
|
459 |
Interactions and Pathways
No data available
Plasmids
No data available