Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
gptkb:gene |
| gptkbp:associatedWith |
gptkb:autosomal_recessive_spinocerebellar_ataxia_20
|
| gptkbp:discoveredIn |
2001
|
| gptkbp:domain |
gptkb:RGS_domain
PX domain |
| gptkbp:encodes |
gptkb:Sorting_nexin-14
|
| gptkbp:Entrez_Gene_ID |
23137
|
| gptkbp:expressedIn |
brain
liver |
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
endoplasmic reticulum-lipid droplet tethering
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
| gptkbp:mutationAssociatedWith |
gptkb:intellectual_disability
coarse facial features cerebellar atrophy |
| gptkbp:OMIM |
616105
|
| gptkbp:orthologIn |
gptkb:mouse
gptkb:zebrafish |
| gptkbp:UniProtID |
gptkb:Q9NXR1
|
| gptkbp:bfsParent |
gptkb:Cerebellar_Abiotrophy
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
SNX14
|