Recombinant Human Actin, gamma-enteric smooth muscle (ACTG2)

1. fetus with intestinal pseudo-obstruction heterozygous for p.R63G pathogenic variant (NM_001615.3 c.187C>G; rs864309491) in exon 3 PMID:29072330
2. 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. PMID:28422808
3. 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. PMID:27007401
4. ACTG2 boosts the metastatic potential of hepatocellular carcinoma in a Notch1-dependent manner. PMID:28385530
5. Missense variants in ACTG2 were identified in the patients with either megacystis-microcolon-intestinal hypoperistalsis syndrome or intestinal pseudo-obstruction. PMID:26813947
6. A heterozygous missense variant in ACTG2 was identified that impaired actin polymerization in sporadic Megacystis microcolon intestinal hypoperistalsis syndrome. PMID:26647307
7. ACTG2 is expressed in a fraction of small intestinal neuroendocrine tumors, can inhibit cell growth in vitro, and is positively regulated by miR-145. PMID:27107594
8. Mutations within ACTG2 are associated with fetal megacystis in microcolon intestinal hypoperistalsis syndrome. PMID:25998219
9. 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. PMID:25782675
10. gammaSMA expression in hepatocellular carcinoma is strongly correlated with the EMT process, HCC aggressiveness and the identification of cancer stem cells PMID:26110787
11. 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. PMID:24676022
12. 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). PMID:24337657
13. The R148S variant in ACTG2 as a cause of autosomal dominant familial visceral myopathy in one family. PMID:22960657
14. NOX4 and ROS have a role in myofibroblast differentiation and collagen and alpha-actin production of TGF- beta1-induced nasal polyp-derived fibroblasts. PMID:22722757
15. SMGA gene activity in prostate epithelia is due, in part, to the androgen-dependent expression of Nkx 3.1 PMID:12450213
16. It was suggested that peritubular alphaSMA-positive myofibroblastic cells, in collaboration with interstitial macrophages, contribute to the progression of interstitial fibrosis in diabetic nephropathy. PMID:17009076
17. TNF-alpha suppresses TGF-beta1-induced myofibroblast (fibroproliferative) phenotypic genes, for example, alpha-SMA, collagen type 1A, and fibronectin at the mRNA level. PMID:17554369
18. 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. PMID:17934296
19. MYOCD can discriminate among several juxtaposed CArG elements, presumably through its novel partnership with NKX3.1, to optimally transactivate the human ACTG2 promoter PMID:19797053

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HGNC: 145

UNIGENE: Hs.516105

KEGG: hsa:72

STRING: 9606.ENSP00000295137

OMIM: 102545