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 several processes, including camera-type eye photoreceptor cell differentiation; phototransduction, visible light; and response to auditory stimulus. Predicted to be located in extracellular region and membrane. Predicted to be active in basement membrane. Is expressed in eye; macula; and photoreceptor cell. Used to study Usher syndrome type 2; Usher syndrome type 2A; and retinitis pigmentosa. 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
- 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
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001791 | Laminin G domain |
| Domain | IPR002049 | Laminin-type 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 |
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 G domain | Laminin, N-terminal | Laminin-type EGF domain | Usherin |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A2R8QIG1
|
117 | ||||||||||
|
UniProtKB:Q1MTD2
|
5236 |
Interactions and Pathways
No data available
Plasmids
No data available