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
- Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Involved in several processes, including anterior/posterior pattern specification; nervous system development; and positive regulation of transcription by RNA polymerase II. Localizes to 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
- 220 figures from 165 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 | 106210 | ||
Anterior segment dysgenesis 5, multiple subtypes | 604229 | ||
Cataract with late-onset corneal dystrophy | 106210 | ||
Foveal hypoplasia 1 | 136520 | ||
Keratitis | 148190 | ||
Microphthalmia/coloboma 12 | 120200 | ||
Optic nerve hypoplasia | 165550 | ||
?Coloboma of optic nerve | 120430 | ||
?Morning glory disc anomaly | 120430 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Homeobox, conserved site | 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 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
pax6a-201
(1)
|
Havana | 876 nt | |
mRNA |
pax6a-202
(1)
|
Havana | 860 nt | |
mRNA |
pax6a-203
(1)
|
Havana | 1006 nt | |
mRNA |
pax6a-204
(1)
|
Havana | 2730 nt | |
mRNA |
pax6a-205
(1)
|
Havana | 2797 nt | |
mRNA |
pax6a-206
(1)
|
Havana | 933 nt | |
mRNA |
pax6a-207
(1)
|
Havana | 1922 nt | |
mRNA |
pax6a-208
(1)
|
Havana | 911 nt | |
mRNA |
pax6a-210
(1)
|
Havana | 699 nt | |
ncRNA |
pax6a-010
(1)
|
Havana | 306 nt |
Interactions and Pathways
No data available
Plasmids
No data available