Aliases for ACVR2A Gene
External Ids for ACVR2A Gene
Previous HGNC Symbols for ACVR2A Gene
Previous GeneCards Identifiers for ACVR2A Gene
This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. 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. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]
GeneCards Summary for ACVR2A Gene
ACVR2A (Activin A Receptor Type 2A) is a Protein Coding gene. Diseases associated with ACVR2A include Multiple Synostoses Syndrome and Preeclampsia/Eclampsia 1. Among its related pathways are Signaling by NODAL and TGF-beta signaling pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ACVR2B.
UniProtKB/Swiss-Prot for ACVR2A Gene
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. Mediates induction of adipogenesis by GDF6 (By similarity).