ACTA2

  • Official Full Name

    actin, alpha 2, smooth muscle, aorta

  • Overview

    The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
  • Synonyms

    ACTA2; actin, alpha 2, smooth muscle, aorta; AAT6; ACTSA; MYMY5; actin, aortic smooth muscle; alpha-cardiac actin; cell growth-inhibiting gene 46 protein;

  • Recombinant Proteins
  • Cell & Tissue Lysates
  • Antibody
  • Protein Pre-coupled Magnetic Beads
  • Chicken
  • Human
  • Mouse
  • Rhesus Macaque
  • Zebrafish
  • E.coli
  • E.Coli or Yeast
  • HEK293
  • HEK293T
  • In Vitro Cell Free System
  • Mammalian Cell
  • Mammalian cells
  • Protein Conjugation
  • Wheat Germ
  • Flag
  • GST
  • His
  • His (Fc)
  • Avi
  • MYC
  • DDK
  • Myc|DDK
  • N/A
  • N
Species Cat.# Product name Source (Host) Tag Protein Length Price
Human ACTA2-7151H Recombinant Human Actin, Alpha 2, Smooth Muscle, Aorta, His-tagged E.coli His 3-377aa
Human ACTA2-189H Recombinant Human ACTA2 Protein, MYC/DDK-tagged HEK293 Myc/DDK
Human ACTA2-212H Recombinant Human ACTA2 Protein, GST-tagged Wheat Germ GST
Human ACTA2-9066HCL Recombinant Human ACTA2 293 Cell Lysate HEK293 N/A
Human ACTA2-7153H Recombinant Human ACTA2 protein, His-tagged E.coli His 1-377 aa
Human ACTA2-27340TH Recombinant Human ACTA2 Wheat Germ N/A 377 amino acids
Human ACTA2-2778H Recombinant Human ACTA2 Protein, His-tagged, OVA Conjugated Protein Conjugation N-His Glu3-Cys11(10Val-Tyr)
Human ACTA2-01H Recombinant Human ACTA2 Protein, His-tagged E.coli His
Human ACTA2-7155H Recombinant Human ACTA2 protein, GST-tagged E.coli GST 1-50 aa
Human ACTA2-817HF Recombinant Full Length Human ACTA2 Protein, GST-tagged In Vitro Cell Free System GST 377 amino acids
Human ACTA2-266H Recombinant Human ACTA2 Protein, His (Fc)-Avi-tagged HEK293 His (Fc)-Avi
Human ACTA2-05HF Recombinant Full Length Human ACTA2 Protein In Vitro Cell Free System 377 amino acids
Human ACTA2-266H-B Recombinant Human ACTA2 Protein Pre-coupled Magnetic Beads HEK293
Human ACTA2-676HFL Active Recombinant Full Length Human ACTA2 Protein, C-Flag-tagged Mammalian cells Flag
Human ACTA2-6139H Recombinant Human ACTA2 Protein (Met1-Phe377), N-His tagged E.coli N-His Met1-Phe377
Mouse Acta2-3092M Recombinant Mouse Acta2, His-tagged E.Coli or Yeast His 377
Mouse Acta2-527M Recombinant Mouse Acta2 Protein, MYC/DDK-tagged HEK293T MYC/DDK
Rhesus Macaque ACTA2-220R Recombinant Rhesus monkey ACTA2 Protein, His-tagged Mammalian Cell His
Rhesus Macaque ACTA2-48R-B Recombinant Rhesus Macaque ACTA2 Protein Pre-coupled Magnetic Beads HEK293
Rhesus Macaque ACTA2-48R Recombinant Rhesus Macaque ACTA2 Protein, His (Fc)-Avi-tagged HEK293 His (Fc)-Avi
Zebrafish ACTA2-11898Z Recombinant Zebrafish ACTA2 Mammalian Cell His
Chicken ACTA2-2890C Recombinant Chicken ACTA2 Mammalian Cell His
  • Involved Pathway
  • Protein Function
  • Interacting Protein
  • Other Resource
  • ACTA2 Related Signal Pathway

ACTA2 involved in several pathways and played different roles in them. We selected most pathways ACTA2 participated on our site, such as Vascular smooth muscle contraction, which may be useful for your reference. Also, other proteins which involved in the same pathway with ACTA2 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

Pathway Name Pathway Related Protein
Vascular smooth muscle contractionCALM1;ADCY2B;PPP1R12A;PPP1CBL;MLCK2;AVPR1A;PRKCBB;PRKCA;MYLK3

ACTA2 has several biochemical functions, for example, ATP binding, protein kinase binding. Some of the functions are cooperated with other proteins, some of the functions could acted by ACTA2 itself. We selected most functions ACTA2 had, and list some proteins which have the same functions with ACTA2. You can find most of the proteins on our site.

Function Related Protein
ATP bindingATP8B5;SRPK2;KSR2;ERN2;TOR1B;DICER1;ATP2A2B;RAD51C;STK38A
protein kinase bindingH2AFY;FBXO5;RAD9A;PIFO;RAB11FIP2;TSACC;CD36;CDKN2C;PTPN23

ACTA2 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with ACTA2 here. Most of them are supplied by our site. Hope this information will be useful for your research of ACTA2.

MYL12B; ACTN2; TTN; TFAP2A; proB; q8cwh4_yerpe; glsA1; TSC1; UL36; 1-phosphatidyl-1d-myo-inositol 4,5-bisphosphate; NS1; URI1; US11; ARAF; VP24; RL1; GABARAPL2; YWHAZ

Research Area

Related articles

Granata, A; Bernard, WG; et al. Temporal and Embryonic Lineage-Dependent Regulation of Human Vascular SMC Development by NOTCH3. STEM CELLS AND DEVELOPMENT 24:846-856(2015).
Kurahara, LH; Sumiyoshi, M; et al. Intestinal Myofibroblast TRPC6 Channel May Contribute to Stenotic Fibrosis in Crohn's Disease. INFLAMMATORY BOWEL DISEASES 21:496-506(2015).
  • Q&As
  • Reviews

Q&As (21)

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What was the association between congenital mydriasis and ACTA2 mutations? 12/06/2022

Congenital mydriasis was associated with the R179 mutation in the cases that tested positive for ACTA2 mutation.

Is there any inheritance pattern associated with ACTA2-related diseases? 06/09/2022

ACTA2-related diseases can be inherited in an autosomal dominant manner, meaning that a single copy of the pathogenic variant is sufficient to cause the condition. However, de novo (sporadic) variants can also occur, meaning they arise in an affected individual without being inherited from their parents.

Are there ongoing research efforts to better understand ACTA2-related diseases? 05/21/2022

Yes, research is actively being conducted to further understand the molecular mechanisms underlying ACTA2-related diseases and to explore potential therapeutic strategies. This includes investigating the specific effects of different pathogenic variants and developing animal models to study the disease progression and test potential treatments.

What is the specific disease associated with ACTA2 variants altering arginine 179? 04/18/2022

ACTA2 variants altering arginine 179 are associated with a more severe, multisystemic disease called smooth muscle dysfunction syndrome (SMDS). This syndrome involves dysfunction of smooth muscle-dependent systems in various parts of the body.

How do pathogenic variants in ACTA2 contribute to disease? 02/17/2022

Pathogenic variants in ACTA2 can disrupt the normal structure or function of smooth muscle α-actin. This can lead to smooth muscle dysfunction, affecting various systems in the body, particularly the vascular system. The altered actin protein may impair smooth muscle contraction, leading to abnormalities such as thoracic aortic aneurysms and dissections.

Are there any treatment options available for ACTA2-related conditions? 12/06/2021

Currently, there is no cure for ACTA2-related conditions. Treatment focuses on managing symptoms and preventing complications. This may involve surgical interventions to repair or replace affected blood vessels, medication to control blood pressure, and regular monitoring of cardiovascular health.

What is the lifetime risk of an aortic event in individuals with ACTA2 mutations? 07/29/2021

The lifetime risk for an aortic event in individuals with ACTA2 mutations is reported to be 76%. This indicates that a significant proportion of individuals with these mutations will experience an aortic event at some point in their lifetime.

What were the results of the cell assays conducted on the HMEC-1 model in relation to ACTA2 overexpression? 01/15/2021

The cell assays showed that ACTA2 overexpression led to decreased cell proliferation, migration, invasion, and angiogenic ability in the HMEC-1 model.

What was the impact of ACTA2 knockdown in the zebrafish model? 08/13/2020

 ACTA2 knockdown in the zebrafish model resulted in defective vascular development, disruption of vascular integrity, and malformation of micro vein development.

How was the expression of ACTA2 validated in the pathological tissues of patients? 06/01/2020

The expression of ACTA2 in the pathological tissues of patients with venous malformations and control tissues was detected using both quantitative polymerase chain reaction (qPCR) and western blot techniques.

What is the association between ACTA2 mutations and the risk of acute aortic dissection? 04/09/2020

ACTA2 mutations are associated with a high risk of presentation with an acute aortic dissection. These mutations increase the likelihood of developing this serious condition.

Were ACTA2 mutations or copy number variations detected in children with iris flocculi? 07/15/2019

No, in this series, ACTA2 mutations or copy number variations were not detected in children presenting with iris flocculi.

What happens when there are mutations or alterations in the ACTA2 gene? 08/16/2018

Mutations or alterations in the ACTA2 gene can disrupt the normal structure or function of smooth muscle α-actin. This can lead to smooth muscle dysfunction and contribute to the development of various diseases, particularly those affecting the vascular system.

What is the role of ACTA2 variants in the development of thoracic aortic aneurysms and dissections? 05/19/2018

Pathogenic variants in ACTA2, which encodes smooth muscle α-actin, predispose individuals to thoracic aortic aneurysms and dissections. These variants contribute to the development of these cardiovascular conditions.

Besides thoracic aortic aneurysms and dissections, what other conditions are associated with pathogenic ACTA2 variants? 04/21/2018

 In addition to thoracic aortic disease, pathogenic ACTA2 variants are also associated with various vascular complications, including arterial aneurysms in other parts of the body, arterial tortuosity, and early-onset ischemic strokes. Other non-vascular manifestations can include ocular abnormalities, such as iris flocculi and congenital mydriasis, as well as genitourinary and gastrointestinal issues.

Can you describe the clinical presentations of the patients with the novel heterozygous ACTA2 missense variants? 01/03/2018

The clinical presentations of the patients with the novel heterozygous ACTA2 missense variants include a range of complications that align or overlap with SMDS. These complications can affect various body systems and may differ among individuals with different variants.

What is the normal function of ACTA2? 10/21/2017

ACTA2 encodes smooth muscle α-actin, which is involved in the contraction and maintenance of smooth muscle cells. It plays a crucial role in the function of various organs and tissues, including blood vessels, airways, and the gastrointestinal tract.

What is ACTA2? 03/25/2017

ACTA2 is a gene that encodes for smooth muscle α-actin, a protein involved in the contraction and maintenance of smooth muscle cells.

Where is ACTA2 found in the body? 01/05/2017

ACTA2 is found in various smooth muscle tissues throughout the body, including blood vessels, airways, the gastrointestinal tract, and other organs.

 What signaling pathways were affected by ACTA2 knockdown in the zebrafish model? 12/25/2016

The knockdown of ACTA2 inhibited the Dll4/notch1 signaling pathway, Ephrin-B2 signaling pathway, and affected vascular integrity-related molecules. It also activated the Hedgehog signaling pathway.

Are there any unusual vascular complications observed in the patients with the other ACTA2 missense variants? 01/24/2016

Yes, there are unusual vascular complications observed in some patients with other ACTA2 missense variants. For example, the patient with the ACTA2 p.Ile66Asn variant has a large fusiform internal carotid artery aneurysm, which is an atypical vascular complication. Similarly, the patient with the ACTA2 p.Arg39Cys variant has complications in the pulmonary, gastrointestinal, and genitourinary systems, but no vascular manifestations

Customer Reviews (5)

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Reviews
05/21/2022

    It specificity has been instrumental in obtaining accurate and reliable data.

    01/12/2022

      The clear instructions and detailed information provided made it straightforward to use

      01/25/2021

        The rigorous testing and quality control measures ensure its integrity and reliability, making it a trusted option

        03/17/2018

          Its stability and shelf life surpassed me.

          10/08/2016

            It demonstrated minimal off-target effects.

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