Gene
ush2a
- ID
- ZDB-GENE-060503-794
- Name
- Usher syndrome 2A (autosomal recessive, mild)
- Symbol
- ush2a Nomenclature History
- Previous Names
-
- si:ch211-279e11.1
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Involved in eye photoreceptor cell development; response to auditory stimulus; and sensory perception of light stimulus. Predicted to localize to integral component of membrane. Used to study Usher syndrome type 2 and Usher syndrome type 2A. Human ortholog(s) of this gene implicated in Usher syndrome (multiple); nonsyndromic deafness; and retinitis pigmentosa (multiple). Is expressed in eye and photoreceptor cell. Orthologous to human USH2A (usherin).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 10 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 29 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
retinitis pigmentosa 39 | Alliance | Retinitis pigmentosa 39 | 613809 |
Usher syndrome type 2A | Alliance | Usher syndrome, type 2A | 276901 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein | Length |
---|---|
UniProtKB:A0A8M3ARH7
|
5243 |
Interactions and Pathways
No data available
Plasmids
No data available