Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
F-actin cross-linking protein
alpha-actinin skeletal muscle isoform |
| gptkbp:associatedWith |
cardiomyopathy
myofibrillar myopathy |
| gptkbp:encodes |
alpha-actinin-2
|
| gptkbp:Entrez_Gene_ID |
102573
ENSG00000152642 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
cardiac muscle |
| gptkbp:function |
actin binding
structural component of sarcomere |
| gptkbp:gene |
gptkb:ACTN2
|
| gptkbp:HGNC_ID |
HGNC:164
|
| https://www.w3.org/2000/01/rdf-schema#label |
102573 (ACTN2)
|
| gptkbp:locatedOnChromosome |
chromosome 1
1q43 |
| gptkbp:OMIM |
102573
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
alpha-actinin family
|
| gptkbp:UniProtID |
P35609
|
| gptkbp:bfsParent |
gptkb:alpha-actinin
|
| gptkbp:bfsLayer |
8
|