Property Summary

NCBI Gene PubMed Count 136
PubMed Score 137.68
PubTator Score 179.07

Knowledge Summary


No data available


  Disease Sources (6)

Disease Target Count P-value
breast carcinoma 1614 5.04312423949749E-25
Breast cancer 3099 3.00387541079694E-14
malignant mesothelioma 3163 8.47623217942609E-9
posterior fossa group A ependymoma 1511 1.19789818130306E-7
cystic fibrosis 1670 7.57154194251667E-7
tuberculosis 1563 1.16610271580317E-5
primary pancreatic ductal adenocarcinoma 1271 1.1871130059609E-5
pancreatic cancer 2300 1.34352651469999E-5
atypical teratoid / rhabdoid tumor 4369 1.38442816124682E-4
colon cancer 1475 2.46591974577217E-4
nasopharyngeal carcinoma 1056 4.99777279333201E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 6.39467489867595E-4
ovarian cancer 8492 0.00182660739451423
psoriasis 6685 0.0021539324625707
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00224271626326967
glioblastoma 5572 0.00440522563100552
nephrosclerosis 329 0.00566415980740782
type II diabetes mellitus and post-ischemic heart failure 89 0.0117478543402274
urothelial carcinoma 318 0.0123854780473515
Pick disease 1893 0.0138608282269319
pterygium 74 0.0138747678194463
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0206254194086021
Disease Target Count Z-score Confidence
lung cancer 4473 0.0 1.0
Disease Target Count Z-score Confidence
Aortic aneurysm 34 4.959 2.5



Accession P62736 B2R8A4 P03996 P04108 Q6FI19
Symbols AAT6


  Ortholog (12)

Species Source
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Pig OMA Inparanoid
Platypus OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid

 GWAS Trait (1)

Gene RIF (136)

27082296 alpha-SMA expression, and MLC phosphorylation, whereas butaprost inhibited TGF-beta2-induced CPCG contraction, actin polymerization, and MLC phosphorylation.
27012699 Genetic analysis revealed a missense mutation of the ACTA2 gene, encoding for a smooth muscle isoform of alpha-actin.
26934405 ACTA2 mutations are associated with structural disruption and functional impairment of contractile proteins, and predispose to a variety of diffuse vascular diseases including TAAD, CAD, ischemic strokes, and Moyamoya disease. Vascular SMCs are also implicated in vascular remodeling in both physiological and pathological conditions.
26927700 Parenchymal alphaSMA expression in hepatic tissue appeared to increase only among hepatitis C subjects with fibrosis 3-4.
26835993 Multisystemic smooth muscle dysfunction syndrome secondary to an ACTA2 mutation.
26569118 NGF has a role in modulating trkANGFR/p75NTR in alphaSMA-expressing conjunctival fibroblasts from human ocular cicatricial pemphigoid
26470744 All the variants analyzed expressed alpha-SMA mildly or moderately, except for the follicular variant that either did not express alpha-SMA or expressed it mildly.
26447986 Transforming growth factor-beta1 induces an up-regulation of alpha-SMA stress fibers in retinal Muller cells and fibroblasts and appears to have a cell-specific effect on intracellular collagen expression.
26153420 The effect of the R258C mutation in SM alpha-actin, is reported.
26034244 The ACTA2 gene encodes the smooth muscle alpha2-actin protein. Pathogenic mutations within ACTA2 result in disrupted contractility and are a recognized cause of aortic dissection

AA Sequence

LSTFQQMWISKQEYDEAGPSIVHRKCF                                               351 - 377

Text Mined References (140)

PMID Year Title
27082296 2016 Activation of Prostaglandin FP and EP2 Receptors Differently Modulates Myofibroblast Transition in a Model of Adult Primary Human Trabecular Meshwork Cells.
27012699 2016 Central Retinal Artery Occlusion in a Teenager.
26934405 ?-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.
26927700 2016 Retinoid and carotenoid status in serum and liver among patients at high-risk for liver cancer.
26835993 Large Pupils in Infancy. . .Suspected Aniridia. Multisystemic smooth muscle dysfunction syndrome secondary to an ACTA2 mutation.
26569118 2015 NGF Modulates trkANGFR/p75NTR in ?SMA-Expressing Conjunctival Fibroblasts from Human Ocular Cicatricial Pemphigoid (OCP).
26470744 Relative expression of ?-smooth muscle actin and matrix metalloproteinases-2 in ameloblastoma of a black African sub-population.
26447986 2015 Immunohistochemical Evaluation of Idiopathic Epiretinal Membranes and In Vitro Studies on the Effect of TGF-? on Müller Cells.
26228148 2015 ACTIN-DIRECTED TOXIN. ACD toxin-produced actin oligomers poison formin-controlled actin polymerization.
26153420 2015 Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.