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
|
https://www.w3.org/2000/01/rdf-schema#label |
SNX14
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
gptkbp:mutationAssociatedWith |
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
|