Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:ankyrin-B
gptkb:ankyrin_2 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Brugada_syndrome
gptkb:arrhythmia long QT syndrome |
| gptkbp:encodes |
gptkb:ankyrin-B
|
| gptkbp:Entrez_Gene_ID |
287
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart |
| gptkbp:fullName |
gptkb:ankyrin_2,_neuronal
|
| gptkbp:function |
scaffolding protein
links integral membrane proteins to the spectrin-actin cytoskeleton |
| https://www.w3.org/2000/01/rdf-schema#label |
ANK2
|
| gptkbp:locatedOnChromosome |
4q25
|
| gptkbp:mutationAssociatedWith |
cardiac conduction defect
|
| gptkbp:OMIM |
106410
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
gptkb:Q01484
|
| gptkbp:bfsParent |
gptkb:chromosome_4
|
| gptkbp:bfsLayer |
6
|