Gene
crx
- ID
- ZDB-GENE-010403-1
- Name
- cone-rod homeobox
- Symbol
- crx Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Exhibits DNA binding activity. Involved in eye photoreceptor cell development; negative regulation of retinal cell programmed cell death; and visual perception. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 7 and cone-rod dystrophy 2. Is expressed in immature eye; neuroepithelial cell; photoreceptor cell; pineal complex; and visual system. Orthologous to several human genes including CRX (cone-rod homeobox).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 71 figures from 45 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu68 (10 images)
- eu16 (7 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 | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Transcription factor Otx | Transcription factor Otx, C-terminal |
|---|---|---|---|---|---|---|
|
UniProtKB:Q8JIZ3
|
281 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-crx | polyclonal | Rabbit |
|
Research Genetics, Inc.
|
3 |
Plasmids
No data available