Statements (22)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
Sushi-repeat protein, X-linked 2
|
gptkbp:associatedWith |
epilepsy
developmental disorders speech and language disorders rolandic epilepsy |
gptkbp:encodes |
Sushi repeat-containing protein SRPX2
|
gptkbp:Entrez_Gene_ID |
8409
|
gptkbp:expressedIn |
brain
|
gptkbp:function |
synapse formation
neuronal migration |
gptkbp:HGNC_ID |
15537
|
https://www.w3.org/2000/01/rdf-schema#label |
SRPX2
|
gptkbp:locatedOnChromosome |
Xp22.1
|
gptkbp:mutationAssociatedWith |
epileptic seizures
speech dyspraxia |
gptkbp:OMIM |
300642
|
gptkbp:orthologInMouse |
SrpX2
|
gptkbp:proteinFamily |
Sushi domain-containing proteins
|
gptkbp:UniProtID |
Q9Y2C5
|
gptkbp:bfsParent |
gptkb:FOXP2
|
gptkbp:bfsLayer |
7
|