ACVR2A Gene

ACVR2A (ACVR2A stands for: Activin A Receptor Type 2A) is a protein coding gene located on chromosome 2q22.3-q23.1.

The ACVR2A gene encodes a receptor that mediates the functions of activins (activin A, activin B, and inhibin A/Renlund N et al. 2007). which belong to the transforming growth factor (TGF-beta) superfamily and are involved in various biological processes.

The encoded receptor protein is a transmembrane serine-threonine kinase receptor that mediates signals by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The receptor complexes formed consist of two type II and two type I transmembrane kinases (serine/threonine kinases). The type II receptors phosphorylate and activate type I receptors, which autophosphorylate and then bind and activate SMAD transcriptional regulators. The encoded type II receptor is primarily involved in ligand binding and includes an extracellular ligand-binding domain, a transmembrane domain, and a cytoplasmic serine/threonine kinase domain.

The ACVR2A gene is associated with susceptibility to preeclampsia, a pregnancy-related condition that can lead to maternal and fetal morbidity and mortality. Diseases associated with ACVR2A include fibrodysplasia ossificans progressiva. Animal experiments have shown that decreased activity of Bmpr2 and Acvr2 lead to early graying (Han R et al. 2012).

1. Han R et al. (2012) Apair of transmembrane receptors essential for the retention and pigmentation of hair. Genesis 50:783-800.
2. Renlund N et al (2007) Activin receptor-like kinase-2 inhibits activin signaling by blocking the binding of activin to its type II receptor. J Endocrinol 195: 95-103.