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
- Acts upstream of or within eye photoreceptor cell development; response to auditory stimulus; and sensory perception of light stimulus. Predicted to be located in extracellular region and membrane. Predicted to be integral component of membrane. Predicted to be active in 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
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression 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