Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
CASPR2
Contactin-associated protein-like 2 NRXN4 |
| gptkbp:associatedWith |
gptkb:autism_spectrum_disorder
epilepsy intellectual disability language impairment Pitt-Hopkins-like syndrome 1 |
| gptkbp:discoveredBy |
Poliak et al.
|
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodes |
CASPR2 protein
|
| gptkbp:Entrez_Gene_ID |
26047
ENSG00000174469 |
| gptkbp:expressedIn |
gptkb:nervous_system
brain |
| gptkbp:fullName |
Contactin Associated Protein-Like 2
|
| gptkbp:function |
neural development
cell adhesion potassium channel localization |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
gptkb:CNTNAP2
|
| https://www.w3.org/2000/01/rdf-schema#label |
CNTNAP2 gene
|
| gptkbp:interactsWith |
gptkb:potassium_channels
Contactin 2 (TAG-1) |
| gptkbp:length_(kb) |
2,300
|
| gptkbp:locatedOnChromosome |
7
7q35-q36.1 |
| gptkbp:location |
neuronal membrane
paranodal regions of myelinated axons |
| gptkbp:mutationAssociatedWith |
nonsense
deletion missense neurodevelopmental disorders duplication |
| gptkbp:numberOfExons |
24
|
| gptkbp:OMIM |
604569
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Cntnap2
|
| gptkbp:pathway |
synaptic transmission
axon guidance |
| gptkbp:proteinFamily |
EGF-like domains
Fibrinogen C-terminal domain neurexin superfamily Discoidin domain F5/8 type C domain Laminin G-like domains |
| gptkbp:related_disorder |
gptkb:Landau-Kleffner_syndrome
Cortical dysplasia-focal epilepsy syndrome childhood apraxia of speech |
| gptkbp:UniProtID |
Q9UHC6
|
| gptkbp:bfsParent |
gptkb:FOXP2_gene
|
| gptkbp:bfsLayer |
8
|