ACTG2 gene

actin, gamma 2, smooth muscle, enteric

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 UniProt:

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

From UniProt:

Visceral myopathy (VSCM): A rare inherited form of myopathic pseudo-obstruction characterized by impaired function of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. The disease shows inter- and intrafamilial variability. Most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and dependence on total parenteral nutrition and urinary catheterization. [MIM:155310]

Cytogenetic Location: 2p13.1, which is the short (p) arm of chromosome 2 at position 13.1

Molecular Location: base pairs 73,892,966 to 73,919,653 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p13.1, which is the short (p) arm of chromosome 2 at position 13.1
  • ACT
  • ACTA3
  • ACTE
  • ACTL3
  • ACTSG
  • VSCM