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MIRAGE
usherin
Summary
- Gene Symbol
-
- USH2A
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cell membrane
- Cell projection
- Disease variant
- Disulfide bond
- Glycoprotein
- Hearing
- Laminin EGF-like domain
- Reference proteome
- Repeat
- Retinitis pigmentosa
- Secreted
- Signal
- Transmembrane helix
- Usher syndrome
- Vision
- Proteins
| UniProt | Protein Name |
|---|---|
| O75445 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| photoreceptor cell maintenance | ||
| maintenance of animal organ identity | ||
| sensory perception of light stimulus | ||
| establishment of localization in cell | ||
| inner ear receptor cell differentiation |
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoplasm | ||
| apical plasma membrane | ||
| photoreceptor connecting cilium | ||
| stereocilium bundle | ||
| ciliary basal body |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| collagen binding | ||
| myosin binding | ||
| identical protein binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Usherin
- Functional Category
-
- G: Carbohydrate transport and metabolism
- L: Replication, recombination and repair
- T: Signal transduction mechanisms
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050439 | Usher syndrome | |
| DOID:0050563 | nonsyndromic deafness | |
| DOID:0110360 | retinitis pigmentosa 39 | |
| DOID:0110827 | Usher syndrome type 2 | |
| DOID:0110838 | Usher syndrome type 2A | |
| DOID:10584 | retinitis pigmentosa |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 7399 | ZFIN:ZDB-GENE-060503-794 | ||
| 22283 | ZFIN:ZDB-GENE-060503-794 | MOUSE28609 | |
| 289369 | RATNO06690 | ||
| 457736 | PANTR23697 | ||
| 488593 | CANLF14348 | ||
| 568982 | DANRE11898 | ||
| 708278 | MACMU21695 | ||
| 100050607 | HORSE29469 | ||
| 100225859 | TAEGU20789 | ||
| 100296635 | BOVIN08004 |
