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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 |
|---|---|---|
| visual perception | ||
| sensory perception of sound | ||
| hair cell differentiation | ||
| inner ear auditory receptor cell differentiation | ||
| establishment of protein localization |
| 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 |
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 |
