gopubmed logo
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Actin, gamma 2, smooth muscle, enteric

ACTG2, gamma 2 actin, ActA3, ACTSG, smooth muscle gamma actin
Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010] (from NCBI)
Top mentioned proteins: Actin, HAD, CAN, miR, gamma-actin
Papers on ACTG2
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Alves et al., Groningen, Netherlands. In Hum Mol Genet, Jan 2016
UNASSIGNED: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which heterozygous missense variants in the Enteric Smooth Muscle actin γ-2 (ACTG2) gene have been recently identified.
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
Dahl et al., Uppsala, Sweden. In Eur J Hum Genet, Dec 2015
Whole-exome sequencing revealed a novel heterozygous tandem base substitution c.806_807delinsAA (p.(Gly269Glu)) in ACTG2, encoding smooth muscle actin γ-2, in affected family members.
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Soucy et al., Montréal, Canada. In Eur J Hum Genet, Sep 2015
Recent studies indicate that heterozygous variants in ACTG2, which codes for a smooth muscle actin, cause MMIHS.
ACTG2-Related Disorders
Beaudet et al., Seattle, United States. In Unknown Journal, Jul 2015
CLINICAL CHARACERISTICS: ACTG2-related disorders are a subset of visceral myopathy with variable involvement of the bladder and intestine.
Identification of stably expressed reference genes for RT-qPCR data normalization in defined localizations of cyclic bovine ovaries.
Kaessmeyer et al., Berlin, Germany. In Anat Histol Embryol, Jun 2015
Expression profiles of twelve potential reference genes (GAPDH, ACTB, YWHAZ, HPRT1, SDHA, UBA52, POLR2C, RPS9, ACTG2, H3F3B, RPS18 and RPL19) were analysed.
Progressive loss of myogenic differentiation in leiomyosarcoma has prognostic value.
Lazar et al., New York City, United States. In Histopathology, Apr 2015
Poorly differentiated tumours frequently lost one or more conventional smooth muscle markers [smooth muscle actin, desmin, h-caldesmon, and smooth muscle myosin (P < 0.0001)], as well as the more recently described markers SLMAP, MYLK, and ACTG2 (P < 0.0001).
MicroRNA MiR-199a-5p regulates smooth muscle cell proliferation and morphology by targeting WNT2 signaling pathway.
Monastyrskaya et al., Bern, Switzerland. In J Biol Chem, Apr 2015
These changes as well as increased expression of ACTG2, TGFB1I1, and CDKN1A were mediated by up-regulation of the smooth muscle-specific transcriptional activator myocardin at mRNA and protein levels.
The transcriptional signatures of cells from the human Peyronie's disease plaque and the ability of these cells to generate a plaque in a rat model suggest potential therapeutic targets.
Gonzalez-Cadavid et al., Torrance, United States. In J Sex Med, Feb 2015
The transcriptional signature of the PD- cells identified fibroproliferative, myogenic (myofibroblasts), inflammatory, and collagen turnover genes that differentiate them from TA- or CC- cells and respond to TGFβ1 with a PD+ fibrotic phenotype, by upregulation of IGF-1, ACTG2, MYF5, ACTC1, PSTN, COL III, MMP3, and others.
The identification of specific methylation patterns across different cancers.
Zhang et al., Harbin, China. In Plos One, 2014
Further survival analysis using the part of genes in the DMCN revealed high-risk group and low-risk group were distinguished by seven biomarkers (PCDHB15, WBSCR17, IGF1, GYPC, CYGB, ACTG2, and PRRT1) in breast cancer and eight biomarkers (ZBTB32, OR51B4, CCL8, TMEFF2, SALL3, GPSM1, MAGEA8, and SALL1) in colon cancer, respectively.
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding x03B3;-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
Anyane-Yeboa et al., New York City, United States. In Fetal Diagn Ther, 2014
METHODS: Whole-exome sequencing (WES) and Sanger sequencing of the ACTG2 gene.
Transcriptome comparisons identify new cell markers for theca interna and granulosa cells from small and large antral ovarian follicles.
Rodgers et al., Adelaide, Australia. In Plos One, 2014
Many genes up regulated in theca interna were common to both sizes of follicles (MGP, DCN, ASPN, ALDH1A1, COL1A2, FN1, COL3A1, OGN, APOD, COL5A2, IGF2, NID1, LHFP, ACTA2, DUSP12, ACTG2, SPARCL1, FILIP1L, EGFLAM, ADAMDEC1, HPGD, COL12A1, FBLN5, RAMP2, COL15A1, PLK2, COL6A3, LOXL1, RARRES1, FLI1, LAMA2).
New concepts concerning prostate cancer screening.
Zimmer et al., Long Beach, United States. In Exp Biol Med (maywood), 2014
We also describe our recent work that identified a smooth muscle contractile protein in prostate epithelia, namely smooth muscle gamma actin, and indicate the potential for this molecule as a new unique footprint and as a CaP marker.
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.
Isfoss et al., Norway. In Endoscopy, 2014
Initial ileal biopsy suggested neuropathy; however, exome sequencing revealed an Arg148Ser mutation in the enteric smooth muscle actin gamma 2 (ACTG2) gene.
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Beaudet et al., Houston, United States. In Plos Genet, 2014
We identified heterozygous ACTG2 missense variants in 15 unrelated subjects, ten being apparent de novo mutations.
Predictive gene signatures: molecular markers distinguishing colon adenomatous polyp and carcinoma.
Carey et al., Dundee, United Kingdom. In Plos One, 2013
The hCellMarkerPlex incorporates twenty-one gene markers: epithelial (EZR, KRT18, NOX1, SLC9A2), proliferation (PCNA, CCND1, MS4A12), differentiation (B4GANLT2, CDX1, CDX2), apoptotic (CASP3, NOX1, NTN1), fibroblast (FSP1, COL1A1), structural (ACTG2, CNN1, DES), gene transcription (HDAC1), stem cell (LGR5), endothelial (VWF) and mucin production (MUC2).
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.
Miano et al., Rochester, United States. In J Biol Chem, 2009
MYOCD can discriminate among several juxtaposed CArG elements, presumably through its novel partnership with NKX3.1, to optimally transactivate the human ACTG2 promoter
Gamma 2 actin gene (enteric type) polymorphism is not associated with obstetric cholestasis or preeclampsia.
Heinonen et al., Kuopio, Finland. In Fetal Diagn Ther, 2007
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.
TNF-alpha suppresses alpha-smooth muscle actin expression in human dermal fibroblasts: an implication for abnormal wound healing.
Garner et al., Los Angeles, United States. In J Invest Dermatol, 2007
TNF-alpha suppresses TGF-beta1-induced myofibroblast (fibroproliferative) phenotypic genes, for example, alpha-SMA, collagen type 1A, and fibronectin at the mRNA level.
Correlations of tissue macrophages and cytoskeletal protein expression with renal fibrosis in patients with diabetes mellitus.
Yoshida et al., Fukui, Japan. In Clin Exp Nephrol, 2006
It was suggested that peritubular alphaSMA-positive myofibroblastic cells, in collaboration with interstitial macrophages, contribute to the progression of interstitial fibrosis in diabetic nephropathy.
RNA polymerase II accumulation in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes.
Sharp et al., Cambridge, United States. In Mol Cell Biol, 2003
RNA polymerase II accumulates in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes.
share on facebooktweetadd +1mail to friends