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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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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
- Proteomics identification
- 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 |
|---|---|---|
| inner ear receptor cell differentiation |
| GO Term | Evidence Code | PMID |
|---|---|---|
| photoreceptor inner segment | ||
| stereocilia ankle link | ||
| stereocilia ankle link complex | ||
| extracellular region | ||
| basement membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| collagen binding | ||
| myosin binding | ||
| identical protein binding |
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 |
