Property Summary

NCBI Gene PubMed Count 31
PubMed Score 83.08
PubTator Score 27.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (19)

Disease log2 FC p
malignant mesothelioma -1.500 3.3e-07
psoriasis -2.200 2.1e-04
cystic fibrosis -3.995 7.6e-08
intraductal papillary-mucinous adenoma (... -1.500 3.2e-03
intraductal papillary-mucinous carcinoma... -1.300 1.6e-02
intraductal papillary-mucinous neoplasm ... -1.300 4.8e-02
colon cancer -6.600 3.9e-05
breast carcinoma -2.400 4.2e-28
lung adenocarcinoma -2.000 1.8e-05
group 3 medulloblastoma 1.700 1.7e-02
posterior fossa group A ependymoma 1.200 3.0e-04
non primary Sjogren syndrome sicca 1.200 2.4e-02
Breast cancer -4.300 2.3e-21
Endometriosis -1.891 2.5e-02
Polycystic Ovary Syndrome -1.103 3.2e-02
lung carcinoma -1.800 5.6e-07
non-small cell lung carcinoma -1.400 5.3e-13
invasive ductal carcinoma -3.100 1.3e-02
ovarian cancer 2.000 4.4e-02

 GO Function (1)

 OMIM Phenotype (1)

Gene RIF (54)

PMID Text
27107594 ACTG2 is expressed in a fraction of small intestinal neuroendocrine tumors, can inhibit cell growth in vitro, and is positively regulated by miR-145.
26110787 gammaSMA expression in hepatocellular carcinoma is strongly correlated with the EMT process, HCC aggressiveness and the identification of cancer stem cells
25998219 Mutations within ACTG2 are associated with fetal megacystis in microcolon intestinal hypoperistalsis syndrome.
25782675 Phenotypic spectrum of ACTG2 missense variants involved severe pathology in multiple smooth muscle-dependent organs including the biliary tract and the uterus in the family with visceral myopathy.
24742657 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
24676022 ACTG2 encodes g2 enteric actin and is the first gene to be clearly associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome, suggesting an important role for contractile proteins in enteric smooth muscle disease.
24667918 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
24337657 Two novel mutations in the ACTG2 gene, p.R178L and p.R178C, have been identified in two unrelated children with congenital distended bladder, microcolon, and intestinal hypoperistalsis (MMIHS).
23875777 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
23811015 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
23575248 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
23294842 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
23260110 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
23071112 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
23017337 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
22989508 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
22960657 The R148S variant in ACTG2 as a cause of autosomal dominant familial visceral myopathy in one family.
22722757 NOX4 and ROS have a role in myofibroblast differentiation and collagen and alpha-actin production of TGF- beta1-induced nasal polyp-derived fibroblasts.
22640593 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
22535526 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
22465675 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
22004035 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
21923909 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
21917091 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
20147394 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
19883584 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
19797053 MYOCD can discriminate among several juxtaposed CArG elements, presumably through its novel partnership with NKX3.1, to optimally transactivate the human ACTG2 promoter
19639585 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
18775311 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
18443296 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
17934296 Observational study of gene-disease association. (HuGE Navigator)
17934296 The insertion-deletion polymorphism in intron 1 of the gamma 2 actin gene is unlikely to play any significant role in obstetric cholestasis or preeclampsia in patients from eastern Finland.
17554369 TNF-alpha suppresses TGF-beta1-induced myofibroblast (fibroproliferative) phenotypic genes, for example, alpha-SMA, collagen type 1A, and fibronectin at the mRNA level.
17504171 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
17411366 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
17360745 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
17009076 It was suggested that peritubular alphaSMA-positive myofibroblastic cells, in collaboration with interstitial macrophages, contribute to the progression of interstitial fibrosis in diabetic nephropathy.
16526095 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
14694110 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
12612070 RNA polymerase II accumulates in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes.
12450213 SMGA gene activity in prostate epithelia is due, in part, to the androgen-dependent expression of Nkx 3.1
12009869 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
11709093 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
10556093 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
10074138 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
10049817 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
9971772 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
9841925 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
8997639 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
8892894 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
8661406 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
1991513 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
1907279 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells
1540415 Microarray analysis indicates HIV-1 Tat-induced upregulation of actin, gamma 2 (ACTG2) in primary human brain microvascular endothelial cells

AA Sequence

MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKY      1 - 70
PIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAV     71 - 140
LSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIV    141 - 210
RDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTY    211 - 280
NSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASL    281 - 350
STFQQMWISKPEYDEAGPSIVHRKCF                                                351 - 376
//

Text Mined References (34)

PMID Year Title
27107594 2016 A plausible role for actin gamma smooth muscle 2 (ACTG2) in small intestinal neuroendocrine tumorigenesis.
26228148 2015 ACTIN-DIRECTED TOXIN. ACD toxin-produced actin oligomers poison formin-controlled actin polymerization.
26110787 2015 Gamma-smooth muscle actin expression is associated with epithelial-mesenchymal transition and stem-like properties in hepatocellular carcinoma.
25998219 2015 New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding ?-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
25782675 2015 Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
24777424 2014 Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.
24676022 2014 Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
24337657 2014 De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
23580065 2013 Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
22960657 2012 Segregation of a missense variant in enteric smooth muscle actin ?-2 with autosomal dominant familial visceral myopathy.
22722757 2012 Role of reactive oxygen species in transforming growth factor beta1-induced alpha smooth-muscle actin and collagen production in nasal polyp-derived fibroblasts.
22516433 2012 Proteomic analysis of microvesicles from plasma of healthy donors reveals high individual variability.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
19797053 2009 Myocardin-dependent activation of the CArG box-rich smooth muscle gamma-actin gene: preferential utilization of a single CArG element through functional association with the NKX3.1 homeodomain protein.
19015515 2008 Connecting actin monomers by iso-peptide bond is a toxicity mechanism of the Vibrio cholerae MARTX toxin.
17934296 2008 Gamma 2 actin gene (enteric type) polymorphism is not associated with obstetric cholestasis or preeclampsia.
17554369 2007 TNF-alpha suppresses alpha-smooth muscle actin expression in human dermal fibroblasts: an implication for abnormal wound healing.
17009076 2006 Correlations of tissue macrophages and cytoskeletal protein expression with renal fibrosis in patients with diabetes mellitus.
16824795 2006 Identification of a novel actin isoform in hepatocellular carcinoma.
15862967 2005 Yeast two-hybrid identification of prostatic proteins interacting with human sex hormone-binding globulin.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14627618 2003 Smooth muscle contraction and relaxation.
12612070 2003 RNA polymerase II accumulation in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12450213 2002 The smooth muscle gamma-actin gene is androgen responsive in prostate epithelia.
10655297 2000 Spatially regulated differentiation of endometrial vascular smooth muscle cells.
8530021 1995 Cloning and sequence analysis of the mouse smooth muscle gamma-enteric actin gene.
7759108 1995 Chromosomal mapping of the human smooth muscle actin gene (enteric type, ACTA3) to 2p13.1 and molecular nature of the hindIII polymorphism.
2377475 1990 The nucleotide sequence of a human smooth muscle (enteric type) gamma-actin cDNA.
1710027 1991 Structure, chromosome location, and expression of the human smooth muscle (enteric type) gamma-actin gene: evolution of six human actin genes.
1673027 1991 A HindIII DNA polymorphism in the human enteric type smooth muscle actin gene (ACTSG).