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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 (Actin Alpha 2, Smooth Muscle) is a Protein Coding gene. Diseases associated with ACTA2 include Multisystemic Smooth Muscle Dysfunction Syndrome and Aortic Aneurysm, Familial Thoracic 6. Among its related pathways are Development Slit-Robo signaling and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is ACTG2.
Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found in two main states: G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G- and F-actin are intrinsically flexible structures.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005524 | ATP binding | IEA | -- |
GO:0019901 | protein kinase binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 23580065 |
GO:0005737 | cytoplasm | ISS,IDA | 11927518 |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005869 | dynactin complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
|
CDC42 Pathway
.41
RhoA Pathway
.35
|
2 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
|
Epithelial Adherens Junctions
.36
|
3 | VEGF Pathway (Qiagen) |
VEGF Family Ligands and Receptor Interactions
.66
VEGF Pathway
.66
|
CCKBR-Gastrin Stimulated Signaling
.36
|
4 | fMLP Pathway |
CCR3 Pathway in Eosinophils
.44
fMLP Pathway
.43
|
Internalin Pathway
.31
|
5 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006936 | muscle contraction | TAS | -- |
GO:0008217 | regulation of blood pressure | IEA | -- |
GO:0009615 | response to virus | IEP | 16548883 |
GO:0010628 | positive regulation of gene expression | ISS | -- |
GO:0014829 | vascular smooth muscle contraction | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Latrunculin A | Experimental | Pharma | Inhibitor of actin assembly and polymerization | 0 | ||
Phenethyl isothiocyanate | Investigational | Pharma | Target | 12 | ||
CK 666 | Pharma | Arp2/3 inhibitor; inhibits actin polymerization | 0 | |||
CK 869 | Pharma | Arp2/3 inhibitor; inhibits actin polymerization | 0 | |||
Wiskostatin | Pharma | N-WASP inhibitor; inhibits Arp2/3 activation | 0 |
Compound | Action | Cas Number |
---|---|---|
187-1, N-WASP inhibitor | N-WASP inhibitor; inhibits actin assembly | 380488-27-7 |
CK 666 | Arp2/3 inhibitor; inhibits actin polymerization | 442633-00-3 |
CK 869 | Arp2/3 inhibitor; inhibits actin polymerization | 388592-44-7 |
Latrunculin A | Inhibitor of actin assembly and polymerization | 76343-93-6 |
Wiskostatin | N-WASP inhibitor; inhibits Arp2/3 activation | 253449-04-6 |
Compound | Action | Cas Number |
---|---|---|
CK 666 | 442633-00-3 | |
CK 869 | 388592-44-7 | |
Cytochalasin D | inhibitor of actin polymerization, selective | 22144-77-0 |
Jasplakinolide | 102396-24-7 | |
Latrunculin A | 76343-93-6 | |
Phalloidin | 17466-45-4 | |
SMIFH2 | 340316-62-3 | |
Wiskostatin | 253449-04-6 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | ACTC 31 |
|
OneToOne | |
ACTA2 30 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ACTA2 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | ACTA2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ACTA2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACTA2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Acta2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Acta2 30 |
|
||
Chicken (Gallus gallus) |
Aves | ACTG2 31 |
|
ManyToMany | |
ACTA2 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | MGC75582 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | acta2 31 |
|
OneToMany | |
acta1a 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Act5C 32 |
|
|
|
Act42A 32 |
|
|
|||
Act57B 32 |
|
|
|||
Act79B 32 |
|
|
|||
Act87E 32 |
|
|
|||
Act88F 32 |
|
|
|||
Arp53D 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | act-2 32 |
|
|
|
act-1 32 |
|
|
|||
act-3 32 |
|
|
|||
act-5 32 |
|
|
|||
F42C5.9 32 |
|
|
|||
Soybean (Glycine max) |
eudicotyledons | Gma.1913 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os12g0163700 30 |
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636479 | Uncertain Significance: not provided | 88,935,327(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
636533 | Likely Pathogenic: not provided | 88,935,366(-) | TC/T | SPLICE_ACCEPTOR_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
636606 | Uncertain Significance: not provided | 88,947,362(-) | T/C | MISSENSE_VARIANT | |
636991 | Uncertain Significance: Aortic aneurysm, familial thoracic 6; not provided | 88,948,824(-) | A/G | MISSENSE_VARIANT | |
649711 | Uncertain Significance: Aortic aneurysm, familial thoracic 6 | 88,941,390(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3624139 | CNV | gain | 21293372 |
esv3624143 | CNV | loss | 21293372 |
esv3624144 | CNV | gain | 21293372 |
esv3624145 | CNV | loss | 21293372 |
nsv825504 | CNV | loss | 20364138 |
nsv831942 | CNV | gain | 17160897 |
nsv831943 | CNV | gain | 17160897 |
nsv948130 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
multisystemic smooth muscle dysfunction syndrome |
|
|
aortic aneurysm, familial thoracic 6 |
|
|
moyamoya disease 5 |
|
|
aortic aneurysm, familial thoracic 2 |
|
|
familial thoracic aortic aneurysm and aortic dissection |
|