Statements (36)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
Disrupted-In-Schizophrenia 1
KIAA0457 LUAI SCZD9 |
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:major_depressive_disorder
bipolar disorder schizophrenia |
gptkbp:discoveredBy |
Millar JK et al.
|
gptkbp:discoveredIn |
2000
|
gptkbp:encodes |
Disrupted in Schizophrenia 1 protein
|
gptkbp:Entrez_Gene_ID |
27185
ENSG00000177432 |
gptkbp:expressedIn |
gptkb:cerebral_cortex
brain hippocampus |
gptkbp:fullName |
Disrupted in Schizophrenia 1
|
gptkbp:function |
cell signaling
neuronal development synaptic regulation |
gptkbp:HGNC_ID |
HGNC:2866
|
https://www.w3.org/2000/01/rdf-schema#label |
DISC1
|
gptkbp:interactsWith |
gptkb:GSK3B
PDE4B FEZ1 NDEL1 |
gptkbp:length |
854 amino acids
|
gptkbp:locatedOnChromosome |
chromosome 1
1q42.2 |
gptkbp:mutationAssociatedWith |
translocation
|
gptkbp:OMIM |
605210
|
gptkbp:orthologInMouse |
Disc1
|
gptkbp:UniProtID |
Q9NRI5
|
gptkbp:bfsParent |
gptkb:FOXP2
|
gptkbp:bfsLayer |
7
|