Gene
otx2b
- ID
- ZDB-GENE-980526-406
- Name
- orthodenticle homeobox 2b
- Symbol
- otx2b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity and sequence-specific DNA binding activity. Involved in brain development; cellular response to alcohol; and retinal pigment epithelium development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in panhypopituitarism and syndromic microphthalmia. Is expressed in several structures, including immature eye; nervous system; neural plate; neural rod; and presumptive structure. Orthologous to human OTX2 (orthodenticle homeobox 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 264 figures from 188 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| combined pituitary hormone deficiency 6 | Alliance | Pituitary hormone deficiency, combined, 6 | 613986 |
| syndromic microphthalmia 5 | Alliance | Microphthalmia, syndromic 5 | 610125 |
| syndromic microphthalmia 5 | Alliance | Retinal dystrophy, early-onset, with or without pituitary dysfunction | 610125 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017970 | Homeobox, conserved site |
| Domain | IPR001356 | Homeodomain |
| Domain | IPR013851 | Transcription factor Otx, C-terminal |
| Family | IPR003022 | Transcription factor Otx2 |
| Family | IPR003025 | Transcription factor Otx |
| Homologous_superfamily | IPR009057 | Homedomain-like superfamily |
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Transcription factor Otx | Transcription factor Otx2 | Transcription factor Otx, C-terminal |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q1RM25
|
289 | ||||||
|
UniProtKB:Q91981
|
289 |
Interactions and Pathways
No data available
Plasmids
No data available