Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
STX1B
syntaxin 1B |
gptkbp:associatedWith |
epilepsy
neurodevelopmental disorders |
gptkbp:discoveredIn |
1995
|
gptkbp:encodes |
syntaxin-1B protein
|
gptkbp:Entrez_Gene_ID |
6810
ENSG00000132849 |
gptkbp:expressedIn |
brain
|
gptkbp:function |
synaptic vesicle exocytosis
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:11441
|
https://www.w3.org/2000/01/rdf-schema#label |
STX1B gene
|
gptkbp:interactsWith |
gptkb:VAMP2
gptkb:SNAP25 STXBP1 synaptotagmin-1 |
gptkbp:locatedOnChromosome |
gptkb:16p11.2
gptkb:chromosome_16 |
gptkbp:mutationAssociatedWith |
seizure susceptibility
|
gptkbp:OMIM |
601580
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Stx1b
|
gptkbp:proteinFamily |
syntaxin family
|
gptkbp:UniProtID |
O00186
|
gptkbp:bfsParent |
gptkb:syntaxin
|
gptkbp:bfsLayer |
7
|