Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:RP3
gptkb:CORS RP15 XLRP3 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
X-linked retinitis pigmentosa
Cone-rod dystrophy |
| gptkbp:discoveredBy |
Meindl et al.
|
| gptkbp:discoveredIn |
1996
|
| gptkbp:Entrez_Gene_ID |
6103
ENSG00000156313 |
| gptkbp:expressedIn |
retina
photoreceptor cells |
| gptkbp:fullName |
Retinitis pigmentosa GTPase regulator
|
| gptkbp:function |
involved in ciliary function
regulates photoreceptor cell maintenance |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
10252
|
| https://www.w3.org/2000/01/rdf-schema#label |
RPGR
|
| gptkbp:locatedOnChromosome |
X
|
| gptkbp:location |
Xp11.4
|
| gptkbp:mutationAssociatedWith |
retinal degeneration
|
| gptkbp:numberOfExons |
19
|
| gptkbp:OMIM |
312610
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Rpgr
|
| gptkbp:orthologInZebrafish |
rpgr
|
| gptkbp:product |
RPGR protein
|
| gptkbp:UniProtID |
Q92834
|
| gptkbp:bfsParent |
gptkb:CEP290
gptkb:NSR-RPGR |
| gptkbp:bfsLayer |
7
|