Statements (29)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
alpha-2 actin
alpha-actin, aortic smooth muscle aortic smooth muscle actin |
gptkbp:associatedWith |
smooth muscle contraction
vascular smooth muscle |
gptkbp:discoveredIn |
1986
|
gptkbp:encodes |
alpha-actin-2 protein
|
gptkbp:Entrez_Gene_ID |
59
ENSG00000107796 |
gptkbp:expressedIn |
vascular smooth muscle cells
bladder smooth muscle intestinal smooth muscle uterine smooth muscle |
gptkbp:fullName |
actin alpha 2, smooth muscle
|
gptkbp:HGNC_ID |
132
|
https://www.w3.org/2000/01/rdf-schema#label |
ACTA2
|
gptkbp:locatedOnChromosome |
gptkb:10q23.31
|
gptkbp:mutationAssociatedWith |
gptkb:Moyamoya_disease
coronary artery disease familial thoracic aortic aneurysm and dissection multisystemic smooth muscle dysfunction syndrome |
gptkbp:OMIM |
102620
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologIn |
Acta2 (Mus musculus)
|
gptkbp:product |
smooth muscle alpha-actin
|
gptkbp:UniProtID |
P62736
|
gptkbp:bfsParent |
gptkb:Familial_thoracic_aortic_aneurysm
|
gptkbp:bfsLayer |
8
|