Gene
otx5
- ID
- ZDB-GENE-030508-1
- Name
- orthodenticle homolog 5
- Symbol
- otx5 Nomenclature History
- Previous Names
-
- cb828 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Enables sequence-specific DNA binding activity. Acts upstream of or within circadian regulation of gene expression and positive regulation of DNA-templated transcription. Predicted to be active in nucleus. Is expressed in forebrain; optic vesicle; and visual system. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 7 and cone-rod dystrophy 2. Orthologous to human CRX (cone-rod homeobox).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 84 figures from 56 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb828 (16 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cone-rod dystrophy 2 | Alliance | Cone-rod retinal dystrophy-2 | 120970 |
| Leber congenital amaurosis 7 | Alliance | Leber congenital amaurosis 7 | 613829 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Transcription factor Otx | Transcription factor Otx, C-terminal |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q6NYT9 | InterPro | 289 |
Interactions and Pathways
No data available
Plasmids
No data available