ACTA2 - actin alpha 2, smooth muscle Gene
Also Known as ACTSA
Species: Homo sapiens
About ACTA2
This gene has 6 transcripts (splice variants), 149 orthologues, 26 paralogues and is associated with 8 phenotypes. Broad expression in endometrium (RPKM 1285.0), prostate (RPKM 863.5) and 16 other tissues.
Summary
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]
ACTA2 Products (11)
| mRNA | Protein | Name |
|---|---|---|
| NM_001141945.3 | NP_001135417.1 | actin, aortic smooth muscle isoform 1 |
| NM_001320855.2 | NP_001307784.1 | actin, aortic smooth muscle isoform 1 |
| NM_001406462.1 | NP_001393391.1 | actin, aortic smooth muscle isoform 1 |
| NM_001406463.1 | NP_001393392.1 | actin, aortic smooth muscle isoform 1 |
| NM_001406464.1 | NP_001393393.1 | actin, aortic smooth muscle isoform 1 |
| NM_001406466.1 | NP_001393395.1 | actin, aortic smooth muscle isoform 2 |
| NM_001406467.1 | NP_001393396.1 | actin, aortic smooth muscle isoform 3 |
| NM_001406468.1 | NP_001393397.1 | actin, aortic smooth muscle isoform 3 |
| NM_001406469.1 | NP_001393398.1 | actin, aortic smooth muscle isoform 3 |
| NM_001406471.1 | NP_001393400.1 | actin, aortic smooth muscle isoform 4 |
| NM_001613.4 | NP_001604.1 | actin, aortic smooth muscle isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28514442 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in glomerular mesangial cell development |
IEP
IEP: Inferred from expression pattern
|
17464107 | GOA |
| involved in response to virus |
IEP
IEP: Inferred from expression pattern
|
16548883 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
11927518 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
18468998 | GOA |
ACTA2 Protein Structure
Actin: Actin (5 - 377)
- 0
- 100
- 200
- 300
- 377 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
actin, aortic smooth muscle |
|
ACTA2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80261 | Pan-Actin Antibody (YA694) | WB, IHC-P | Human, Mouse, Rat |
| HY-P80484 | alpha smooth muscle Actin Antibody (YA627) | WB, IHC-P, FC, IP | Human, Mouse |
| HY-P83739 | alpha smooth muscle Actin Antibody(YA3468) | WB, IHC-P, ICC/IF, FC, IF-Tissue, mIHC | Human, Mouse, Rat |
| HY-P84429 | alpha Smooth Muscle Actin Antibody (YA4126) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Rabbit, Monkey |
| HY-P84429A | alpha Smooth Muscle Actin Antibody (YA4126)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Rabbit, Monkey |
| HY-P85028 | alpha Smooth Muscle Actin Antibody (YA4720) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Rat, Monkey |
| HY-P85726 | alpha Smooth Muscle Actin Antibody (YA5418) | WB, IHC-P | Human, Mouse, Rat |
| HY-P85827 | Actin smooth muscle (SMA) Antibody (YA5519) | IHC-P, WB, ICC/IF, ELISA | Human, Mouse, Rat |
| HY-P85828 | Actin Muscle Specific Antibody (YA5520) | IHC-P, WB, ICC/IF, ELISA | Human, Mouse, Rat, Monkey, Bovin, Pig, Chick |
| HY-P86727 | alpha smooth muscle Actin Antibody (YA6419) | WB, IHC-P, IHC-F, ICC/IF, FC, IF-Tissue | Human, Mouse, Rat |
| HY-P86727A | alpha smooth muscle Actin Antibody (YA6419)(PBS only) | WB, IHC-P, IHC-F, IF-Tissue, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
|
| Aortic Aneurysm, Familial Thoracic 6 |
|
|
| Moyamoya Disease 5 |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Aortic Aneurysm, Familial Thoracic 2 |
|
|
| Aortic Aneurysm, Familial Thoracic 4 |
|
|
| Autoimmune Lymphoproliferative Syndrome |
|
|
| Connective Tissue Disease |
|
|
| Aortic Disease |
|
|
| Moyamoya Disease 1 |
|
|
| Aortic Aneurysm |
|
|
| Cerebrovascular Disease |
|
|
| Prune Belly Syndrome |
|
|
| Loeys-Dietz Syndrome |
|
|
| Aortic Valve Disease 1 |
|
|
| Marfan Syndrome |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
|
| Neuroma |
|
|
| Hemiplegia |
|
|
| Ehlers-Danlos Syndrome, Vascular Type |
|
|
| Aortic Dissection |
|
|
| Retinal Artery Occlusion |
|
|
| Lung Cancer |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Arterial Tortuosity Syndrome |
|
|
| Pulmonary Hypertension |
|
|
| Cerebral Arterial Disease |
|
|
| Breast Myoepithelial Carcinoma |
|
|
| Loeys-Dietz Syndrome 3 |
|
|
| Aortic Valve Insufficiency |
|
|
| Heart Disease |
|
|
| Baraitser-Winter Syndrome |
|
|
| Supravalvular Aortic Stenosis |
|
|
| Collagen Disease |
|
|
| Orthostatic Intolerance |
|
|
| Rhabdomyosarcoma |
|
|
| Noonan Syndrome 1 |
|
|
| Aortic Aneurysm, Familial Abdominal, 1 |
|
|
| Ehlers-Danlos Syndrome |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Interstitial Lung Disease 2 |
|
|
| Williams-Beuren Syndrome |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Dilated Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | ACTA2 | VGNC | VGNC:100289 |
| Bos taurus | ACTA2 | VGNC | VGNC:106627 |
| Mus musculus | ACTA2 | MGD | MGI:87909 |
| Rattus norvegicus | ACTA2 | RGD | RGD:621676 |
| Felis catus | ACTA2 | VGNC | VGNC:59542 |
| Canis familiaris | ACTA2 | VGNC | VGNC:37539 |
| Others | ACTA2 | NCBI |