Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
retinitis pigmentosa
Usher syndrome type II |
| gptkbp:discoveredBy |
Weston et al.
|
| gptkbp:discoveredIn |
2000
|
| gptkbp:encodes |
usherin protein
|
| gptkbp:Entrez_Gene_ID |
7399
|
| gptkbp:expressedIn |
retina
inner ear |
| gptkbp:fullName |
usherin
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:12638
|
| https://www.w3.org/2000/01/rdf-schema#label |
USH2A
|
| gptkbp:length |
5202 amino acids
|
| gptkbp:locatedOnChromosome |
1q41
|
| gptkbp:mutationAssociatedWith |
hearing loss
vision loss |
| gptkbp:OMIM |
608400
|
| gptkbp:orthologInMouse |
Ush2a
|
| gptkbp:UniProtID |
O75445
|
| gptkbp:bfsParent |
gptkb:human_chromosome_1
|
| gptkbp:bfsLayer |
8
|