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 basement membrane. Is expressed in eye and photoreceptor cell. 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). Orthologous to human USH2A (usherin).
- Genome Resources
- Note
- None
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 18 figures from 4 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
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000742 | EGF-like domain |
Domain | IPR001791 | Laminin G domain |
Domain | IPR002049 | Laminin EGF domain |
Domain | IPR003961 | Fibronectin type III |
Domain | IPR006558 | LamG-like jellyroll fold |
Domain | IPR008211 | Laminin, N-terminal |
Family | IPR026915 | Usherin |
Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
Homologous_superfamily | IPR038684 | Laminin, N-terminal domain superfamily |
Domain Details Per Protein
Protein | Length | Concanavalin A-like lectin/glucanase domain superfamily | EGF-like domain | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin-like fold | LamG-like jellyroll fold | Laminin EGF domain | Laminin G domain | Laminin, N-terminal | Laminin, N-terminal domain superfamily | Usherin |
---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q1MTD2
|
5236 | |||||||||||
UniProtKB:A0A2R8QIG1
|
117 |
Interactions and Pathways
No data available
Plasmids
No data available