GO_REF:0000024
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
GO_REF:0000033
Annotation inferences using phylogenetic trees
GO_REF:0000044
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
GO_REF:0000107
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
GO_REF:0000108
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
PMID:6202424
A variant form of beta-actin in a mutant of KB cells resistant to cytochalasin B.
PMID:10633868
Antisense oligodeoxynucleotide complementary to smooth muscle alpha-actin inhibits endothelial-mesenchymal transformation during chick cardiogenesis.
PMID:11927518
Endothelial cell senescence in human atherosclerosis: role of telomere in endothelial dysfunction.
PMID:11953441
Transcriptional regulation of a contractile gene by mechanical forces applied through integrins in osteoblasts.
PMID:12355421
Cellular localization of cyclooxygenase-1 and cyclooxygenase-2 in the normal mouse, rat, and human retina.
PMID:16130169
Proteomics of human umbilical vein endothelial cells applied to etoposide-induced apoptosis.
PMID:16548883
Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection.
PMID:16611632
Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.
PMID:17043753
Prohibitin suppresses renal interstitial fibroblasts proliferation and phenotypic change induced by transforming growth factor-beta1.
PMID:17464107
Development of glomerular endothelial cells, podocytes and mesangial cells in the human fetus and infant.
PMID:17994018
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
PMID:18468998
Blood pressure is regulated by an alpha1D-adrenergic receptor/dystrophin signalosome.
PMID:19409525
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
PMID:20734336
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
PMID:20970362
Analysis of ACTA2 in European Moyamoya disease patients.
PMID:21307259
LRRK2 controls synaptic vesicle storage and mobilization within the recycling pool.
PMID:23533145
In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
PMID:23580065
Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy.
PMID:24204762
Smooth muscle α actin (Acta2) and myofibroblast function during hepatic wound healing.
PMID:26153420
Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.
PMID:26637293
The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.
PMID:30476341
All-trans Retinoic Acid Disrupts Development in Ex Vivo Cultured Fetal Rat Testes. II: Modulation of Mono-(2-ethylhexyl) Phthalate Toxicity.
PMID:30626964
SETD3 is an actin histidine methyltransferase that prevents primary dystocia.
PMID:30645697
Renogenic characterization and in vitro differentiation of rat amniotic fluid stem cells into renal proximal tubular- and juxtaglomerular-like cells.
PMID:33961781
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
PMID:34600884
Resistance of Acta2(R149C/+) mice to aortic disease is associated with defective release of mutant smooth muscle α-actin from the chaperonin-containing TCP1 folding complex.
PMID:28514442
Architecture of the human interactome defines protein communities and disease networks.
PMID:36007455
Loss of Acta2 in cardiac fibroblasts does not prevent the myofibroblast differentiation or affect the cardiac repair after myocardial infarction.
PMID:38486025
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.
PMID:27481187
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
PMID:40378078
Genomic Editing of a Pathogenic Sequence Variant in ACTA2 Rescues Multisystemic Smooth Muscle Dysfunction Syndrome in Mice.
PMID:40603847
Immature Acta2(R179C/+) smooth muscle cells cause moyamoya-like cerebrovascular lesions in mice prevented by boosting OXPHOS.
Reactome:R-HSA-445699
ATP Hydrolysis By Myosin
Reactome:R-HSA-445700
Myosin Binds ATP
Reactome:R-HSA-445704
Calcium Binds Caldesmon
Reactome:R-HSA-445705
Release Of ADP From Myosin
Reactome:R-HSA-9604664
ACTA2 gene expression is stimulated by NOTCH1, NOTCH2 and NOTCH4
Reactome:R-HSA-9914537
DGC complex binds AGRN and HSPG2
Reactome:R-HSA-9934294
CDH1-associated CTNNA1 binds VCL
Reactome:R-HSA-9934410
CDH1 forms homotypic trans-dimers
Reactome:R-HSA-9934486
CDH1-associated CTNNA1 binds F-actin
file:human/ACTA2/ACTA2-bioinformatics/RESULTS.md
ACTA2 computed analysis - structural-MF census, actin-surface residue tallies, disease-variant distances, WITH/FROM resolution, reference projection
file:human/ACTA2/ACTA2-uniprot.txt
UniProt P62736 ACTA2 cached record