Gene
vsx2
- ID
- ZDB-GENE-001222-1
- Name
- visual system homeobox 2
- Symbol
- vsx2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Enables sequence-specific DNA binding activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II and regulation of neural retina development. Predicted to be active in nucleus. Is expressed in head; nervous system; neural tube; optic cup; and optic vesicle. Human ortholog(s) of this gene implicated in blindness and isolated microphthalmia 2. Orthologous to human VSX2 (visual system homeobox 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 70 figures from 40 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66294 (9 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| isolated microphthalmia 2 | Alliance | Microphthalmia, isolated 2 | 610093 |
| Microphthalmia/coloboma 3 | 610092 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | CVC domain | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | OAR domain | Visual system homeobox transcriptional regulators |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1QQE7 | InterPro | 372 | ||||||
| UniProtKB:O42477 | InterPro | 393 | ||||||
| UniProtKB:A0A8M2B589 | InterPro | 393 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-vsx2 | polyclonal | IgG | Sheep |
|
Exalpha Biologicals, Inc
|
1 |
Plasmids
No data available