Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
cardiomyopathy
myofibrillar myopathy |
| gptkbp:encodes |
alpha-actinin-2
|
| gptkbp:Entrez_Gene_ID |
88
ENSG00000152642 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
cardiac muscle |
| gptkbp:fullName |
actinin alpha 2
|
| gptkbp:function |
gptkb:actin-binding_protein
cytoskeletal structural protein |
| gptkbp:HGNC_ID |
HGNC:163
|
| https://www.w3.org/2000/01/rdf-schema#label |
ACTN2
|
| gptkbp:interactsWith |
gptkb:actin
gptkb:titin nebulin |
| gptkbp:locatedOnChromosome |
1q43
|
| gptkbp:mutationAssociatedWith |
muscle disease
|
| gptkbp:OMIM |
102573
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Actn2
|
| gptkbp:product |
alpha-actinin-2
|
| gptkbp:subcellularLocation |
gptkb:Z-disc
|
| gptkbp:UniProtID |
P35609
|
| gptkbp:bfsParent |
gptkb:FHL1_gene
gptkb:alpha-actinin |
| gptkbp:bfsLayer |
8
|