ACTA2

GPTKB entity

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