Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
KIAA1011
NUANCE Nesprin-2 |
| gptkbp:associatedWith |
gptkb:Emery-Dreifuss_muscular_dystrophy
|
| gptkbp:encodes |
Nesprin-2
|
| gptkbp:Entrez_Gene_ID |
23224
ENSG00000054654 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart |
| gptkbp:function |
links nucleus to cytoskeleton
nuclear envelope protein |
| gptkbp:hasIsoform |
Nesprin-2 Giant
Nesprin-2 alpha Nesprin-2 beta |
| https://www.w3.org/2000/01/rdf-schema#label |
SYNE2
|
| gptkbp:interactsWith |
lamin A/C
SUN proteins emerin |
| gptkbp:length |
6885 amino acids (Nesprin-2 Giant isoform)
|
| gptkbp:locatedOnChromosome |
14q23.2
|
| gptkbp:mutationAssociatedWith |
muscle weakness
cardiac conduction defects |
| gptkbp:OMIM |
608442
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Syne2
|
| gptkbp:proteinFamily |
spectrin repeat containing proteins
|
| gptkbp:subcellularLocation |
nuclear envelope
outer nuclear membrane |
| gptkbp:UniProtID |
Q8WXH0
|
| gptkbp:bfsParent |
gptkb:Familial_atrial_fibrillation
|
| gptkbp:bfsLayer |
7
|