这个基因编码一个介导激活素功能的受体,激活素是参与多种生物过程的转化生长因子β(tgfβ)超家族的成员。编码蛋白是一种跨膜丝氨酸苏氨酸激酶受体,通过以细胞特异性方式与Ⅰ型和Ⅱ型受体及配体的各种组合形成异二聚体复合物来介导信号传导。编码的ii型受体主要参与配体结合,包括胞外配体结合区、跨膜区和胞浆丝氨酸苏氨酸激酶区。该基因可能与先兆子痫的易感性有关,先兆子痫是一种妊娠相关疾病,可导致母婴发病率和死亡率。选择性剪接导致该基因的多个转录变体。[由RefSeq提供,2013年6月]
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]

基因名:ACVR2A
别名:ACVR2,ACTRII
基因ID:92
Chromosome:
(GRCh37)
2 Start: 148602086 End: 148688396 Strand: 
信号通路:  
ACVR2A 基因突变与药物

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