Gene: ACTG2

Alternate names for this Gene: ACT|ACTA3|ACTE|ACTL3|ACTSG|VSCM

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.1

Description of this Gene: actin gamma 2, smooth muscle

Type of Gene: protein-coding

rs587777383 in ACTG2 gene and Chronic intestinal pseudo-obstruction PMID 26813947 2016 Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.

PMID 24337657 2014 De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

PMID 24676022 2014 Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

PMID 25998219 2015 New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

rs1057516046 in ACTG2 gene and Decreased peristalsis PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516046 in ACTG2 gene and Dilatation of the bladder PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs587777387 in ACTG2 gene and Megacystis PMID 26813947 2016 Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.

PMID 24676022 2014 Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

PMID 24337657 2014 De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

PMID 25998219 2015 New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

rs587777384 in ACTG2 gene and Multiple congenital anomalies PMID 22960657 2012 Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

PMID 19098683 2009 Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle.

PMID 25782675 2015 Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

PMID 26669664 2016 A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

PMID 24337657 2014 De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

PMID 24676022 2014 Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

PMID 28383543 2017 Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

rs1057516046 in ACTG2 gene and Visceral Myopathy PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 24777424 2014 Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.

PMID 24337657 2014 De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

PMID 22960657 2012 Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

PMID 24676022 2014 Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

PMID 26813947 2016 Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.

PMID 25998219 2015 New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).