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Protein-coding gene in the species Homo sapiens
ACTA2 (actin alpha 2) is an actin protein with several aliases including alpha-actin, alpha-actin-2, aortic smooth muscle or alpha smooth muscle actin
ACTA2
Medical condition
(MSMDS) is a genetic disorder caused by R179 missense mutations in the ACTA2 gene. Initially described as a case report in 1999, it was characterized
Multisystemic smooth muscle dysfunction syndrome
Multisystemic_smooth_muscle_dysfunction_syndrome
Chronic disease of the liver, characterized by fibrosis
magnitude of fibrosis being in proportion to the increase in TGF-β levels. ACTA2 is associated with the TGF-β pathway that enhances contractile properties
Cirrhosis
dissection FOXE3, SMAD2, LOX, MAT2A, ELN, HEY2, TGFB3, TGFBR1, TGFBR2, FBN1, ACTA2, MYLK, SMAD3, PRKG1, MFAP5, TGFB2, SMAD4, MYH11 dominant Feingold syndrome
List_of_genetic_disorders
Tumour-promoting cell type
of CAF Markers Name of markers Functions α-smooth muscle actin (α-SMA, ACTA2) Marker for myofibroblasts Fibroblast activation protein (FAP) Marker for
Cancer-associated_fibroblast
Disease characterized by constriction of brain arteries
disease. Moyamoya disease-5 (MYMY5; 614042) is caused by mutation in the ACTA2 gene (102620) on the long arm of chromosome 10 (10q23.3); and moyamoya disease-6
Moyamoya_disease
Cell type with functions of both muscular and fibrous connective tissue
which is a general mesenchymal marker, α-smooth muscle actin (human gene = ACTA2), and for palladin, which is a cytoskeletal actin scaffold protein. They
Myofibroblast
Topics referred to by the same term
SMAC, previous names of Comprehensive metabolic panel blood tests α-SMA or ACTA2, an actin protein Spinal muscular atrophy, a severe neuromuscular disorder
SMA
Neurologist
Milewicz DM. Mutations in genes encoding smooth muscle contractile proteins, ACTA2 and MYH11, cause hyperplastic vasculomyopathy and lead to diffuse and diverse
Dong_Kim
Cytokine
being in proportion to increase in TGF-β levels. Studies have shown that ACTA2 is associated with TGF-β pathway that enhances contractile properties of
Transforming growth factor beta
Transforming_growth_factor_beta
Family of proteins that form microfilaments
are involved in skeletal striated muscle (ACTA1), smooth muscle tissue (ACTA2), intestinal muscles (ACTG2) and cardiac muscle (ACTC1). The actin in the
Actin
Topics referred to by the same term
mammalian protein ACTA1, actin alpha 1 (skeletal muscle), human protein ACTA2, actin alpha 2 (smooth muscle), human protein Actin assembly-inducing protein
Acta
Medical condition
Additionally, genetic testing for pathogenic variants in genes such as FBN1 and ACTA2 may confirm a familial predisposition to aortic pathology. Early detection
Familial thoracic aortic aneurysm
Familial_thoracic_aortic_aneurysm
2019 EU copyright reform directive
original on 18 February 2019. Retrieved 17 February 2019. "#stopACTA2 events". stop ACTA2 – Save Your Internet. 24 August 2018. Archived from the original
Directive on Copyright in the Digital Single Market
Directive_on_Copyright_in_the_Digital_Single_Market
in cell culture. T98G cells are known for having high expression of the ACTA2 gene, which is involved in cell motility and structure. T98G cells are polyploidy
T98G
Mammalian protein found in humans
time they turn on the expression of vimentin, alpha smooth muscle actin (ACTA2), and fibroblast-specific protein 1 (FSP1). They also produce extracellular
Catenin_beta-1
HGNC:15814; Q9NR19 203 ACSS3 HGNC:24723; Q9H6R3 204 ACTA1 HGNC:129; P68133 205 ACTA2 HGNC:130; P62736 206 ACTB HGNC:132; P60709 207 ACTBL2 HGNC:17780; Q562R1
List of human protein-coding genes 1
List_of_human_protein-coding_genes_1
Medical condition
vimentin proteins but not epithelial membrane antigen (also termed MUC1), ACTA2 (also termed α-SMA), desmin, HMB-45, keratin, S100, or MLANA (also termed
Giant-cell_fibroblastoma
Protein found in humans
MYH11 gene is responsible for the smooth muscle myosin heavy chain and ACTA2 at TAAD4 loci encodes for smooth muscle alpha-actin. A nonsynonymous amino
Fibrillin-1
Physician
Nili; et al. (11 November 2007). "Mutations in Smooth Muscle Alpha-actin (ACTA2) Lead to Thoracic Aortic Aneurysms and Dissections". Nature Genetics. 39
Hazim_J._Safi
Protein-coding gene in the species Homo sapiens
mesenchyme. These molecules include vimentin, alpha smooth muscle actin (ACTA2) and fibroblast-specific protein 1 (FSP1). EP300, MITF PIAS4, SMAD2, and
Lymphoid enhancer-binding factor 1
Lymphoid_enhancer-binding_factor_1
Medical condition
(also termed EMA) protein in 46% of cases; desmin protein in 22% of cases; ACTA2 (also termed α-SMA), CD34, and STAT6 proteins in 10% or fewer cases, and
Angiofibroma_of_soft_tissue
Medical condition
(located on 9q22.33) TGFBR2 (located on 3p24.1) FBN1 (located on 15q21.1) ACTA2 (located on 10q23.31 MYLK (located on 3q21.1) SMAD3 (located on 15q22.33)
Familial thoracic aortic aneurysm and aortic dissection
Familial_thoracic_aortic_aneurysm_and_aortic_dissection
Medical condition
analyses find that the LGMS tumors' spindle-shaped cells commonly express ACTA2 (also known α-smooth muscle actin) and desmin (i.e. an intermediate filament
Low-grade myofibroblastic sarcoma
Low-grade_myofibroblastic_sarcoma
for example vSMCs but not pericytes express alpha-smooth muscle actin (ACTA2). Nowadays, distinctively characterizing these cells requires a combination
Mural_cell
Human protein
Their lungs had lumpy surfaces, various other malformations, low levels of ACTA2 (i.e., actin alpha 2, also termed alpha smooth muscle actin or α-SMA) in
PDPN
Medical condition
Pannu H, Tran-Fadulu V, et al. (2007). "Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections". Nature Genetics. 39
Familial_aortic_dissection
thoracic 4; 132900; MYH11 Aortic aneurysm, familial thoracic 6; 611788; ACTA2 Aortic valve disease; 109730; NOTCH1 Apert syndrome; 101200; FGFR2 Aphakia
List_of_OMIM_disorder_codes
Protein-coding gene in the species Homo sapiens
account for approximately 2% of familial TAAD. Additionally, mutations in the ACTA2 gene are thought to account for approximately 10-14% of familial TAAD. The
Myosin-11
Protein-coding gene in the species Homo sapiens
20orf141 also engages in protein-protein interactions with CCDC12, FUNDC2, and ACTA2, which are involved in blood cell maintenance and survival. Human c20orf141
C20orf141
ACTA2
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ACTA2
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ACTA2
ACTA2
ACTA2