anti-Actin, gamma 2, Smooth Muscle, Enteric (ACTG2) Anticorps

Human Actin, gamma 2, Smooth Muscle, Enteric (ACTG2) interaction partners

1. mutations represent a significant underlying cause of primary chronic intestinal pseudo-obstruction with visceral myopathy and associated phenotypes in Australasian patients.

2. fetus with intestinal pseudo-obstruction heterozygous for p.R63G pathogenic variant (NM_001615.3 c.187C>G; rs864309491) in exon 3

3. Whole exome and Sanger sequencing revealed a pathogenic variant in the ACTG2 gene in 4 out of 28 probands with chronic intestinal pseudo-obstruction and megacystis. Moreover, a mutational hotspot in the ACTG2 gene was recognized. Genetic heterogeneity is evident.

4. R257 variant in the ACTG2 appear to be more frequent in populations of Asian ancestry; mutation of this locus could cause alterations of the intestinal and bladder smooth muscle filaments.

5. ACTG2 boosts the metastatic potential of hepatocellular carcinoma in a Notch1-dependent manner.

6. Missense variants in ACTG2 were identified in the patients with either megacystis-microcolon-intestinal hypoperistalsis syndrome or intestinal pseudo-obstruction.

7. A heterozygous missense variant in ACTG2 was identified that impaired actin polymerization in sporadic Megacystis microcolon intestinal hypoperistalsis syndrome.

8. ACTG2 is expressed in a fraction of small intestinal neuroendocrine tumors, can inhibit cell growth in vitro, and is positively regulated by miR-145.

9. Mutations within ACTG2 are associated with fetal megacystis in microcolon intestinal hypoperistalsis syndrome.

10. 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.

11. gammaSMA expression in hepatocellular carcinoma is strongly correlated with the EMT process, HCC aggressiveness and the identification of cancer stem cells

12. 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.

13. 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).

14. The R148S variant in ACTG2 as a cause of autosomal dominant familial visceral myopathy in one family.

15. NOX4 and ROS have a role in myofibroblast differentiation and collagen and alpha-actin production of TGF- beta1-induced nasal polyp-derived fibroblasts.

16. SMGA gene activity in prostate epithelia is due, in part, to the androgen-dependent expression of Nkx 3.1

17. RNA polymerase II accumulates in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes.

18. It was suggested that peritubular alphaSMA-positive myofibroblastic cells, in collaboration with interstitial macrophages, contribute to the progression of interstitial fibrosis in diabetic nephropathy.

19. TNF-alpha suppresses TGF-beta1-induced myofibroblast (fibroproliferative) phenotypic genes, for example, alpha-SMA, collagen type 1A, and fibronectin at the mRNA level.

20. 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.

Mouse (Murine) Actin, gamma 2, Smooth Muscle, Enteric (ACTG2) interaction partners

1. ACTG2 boosts the metastatic potential of hepatocellular carcinoma in a Notch1-dependent manner.

2. MYOCD can discriminate among several juxtaposed CArG elements, presumably through its novel partnership with NKX3.1, to optimally transactivate the human ACTG2 promoter