InnateDB Protein
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IDBP-382008.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ACTA2
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Protein Name
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actin, alpha 2, smooth muscle, aorta
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Synonyms
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AAT6; ACTSA; MYMY5;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000402373
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InnateDB Gene
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IDBG-81614 (ACTA2)
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Protein Structure
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Function |
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
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Subcellular Localization |
Cytoplasm, cytoskeleton.
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Disease Associations |
Note=ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease.Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269PubMed:17994018, ECO:0000269PubMed:19409525, ECO:0000269PubMed:19639654}. Note=The disease is caused by mutations affecting the gene represented in this entry.Moyamoya disease 5 (MYMY5) [MIM:614042]: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. {ECO:0000269PubMed:20970362}. Note=The disease is caused by mutations affecting the gene represented in this entry.Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]: A syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. {ECO:0000269PubMed:20734336}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 70 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated |
Total |
70
[view]
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Protein-Protein |
67
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004000
Actin-related protein
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PFAM |
PF00022
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PRINTS |
PR00190
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PIRSF |
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SMART |
SM00268
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TIGRFAMs |
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Modification |
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SwissProt |
P62736
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PhosphoSite |
PhosphoSite-P62736
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TrEMBL |
Q562S2
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UniProt Splice Variant |
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Entrez Gene |
59
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UniGene |
Hs.635256
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RefSeq |
NP_001135417
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HUGO |
HGNC:130
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OMIM |
102620
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CCDS |
CCDS7392
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HPRD |
00031
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IMGT |
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EMBL |
AK056592
AK300664
AK313294
AL157394
AY692464
AY970439
AY970440
BC017554
BC093052
CH471066
CR536518
GU143396
J05192
K01741
K01742
K01743
M33216
X13839
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GenPept |
AAA51577
AAA60560
AAH17554
AAH93052
AAW29811
AAX82248
AAX82249
ACZ58370
BAG36101
BAG51757
BAG62350
CAA32064
CAG38756
CAI13864
EAW50153
EAW50154
EAW50155
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