ZFIN is now using GRCz12tu for Genomic Data
Gene
pax6b
- ID
- ZDB-GENE-001031-1
- Name
- paired box 6b
- Symbol
- pax6b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Enables DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in positive regulation of cell population proliferation; retinal cone cell differentiation; and retinal rod cell differentiation. Acts upstream of or within several processes, including brain development; camera-type eye development; and endocrine pancreas development. Predicted to be active in nucleus. Is expressed in several structures, including anterior neural keel; endocrine system; immature eye; nervous system; and neural plate. 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
- 88 figures from 58 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb566 (10 images)
- MGC:92546 (36 images)
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 11 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| aniridia 1 | Alliance | Aniridia | 106210 |
| aniridia 1 | 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 | Microphthalmia/coloboma 12 | 120200 |
| coloboma of optic nerve | Alliance | ?Coloboma of optic nerve | 120430 |
| coloboma of optic nerve | Alliance | ?Morning glory disc anomaly | 120430 |
| foveal hypoplasia 1 | Alliance | Foveal hypoplasia 1 | 136520 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017970 | Homeobox, conserved site |
| Domain | IPR001356 | Homeodomain |
| Domain | IPR001523 | Paired domain |
| 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
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers