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 Mbd5 Haploinsufficiency and Multiple Synostoses Syndrome. Among its related pathways are Signaling by NODAL and Mesodermal Commitment 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).