NOTCH2

This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

本基因编码Notch家族的一员。该家族的Type 1跨膜蛋白成员具有相似的结构特征，包括由多个表皮生长因子样（EGF）重复序列组成的胞外结构域，以及由多个不同结构域类型组成的胞内结构域。Notch家族成员通过调控细胞命运决策，在多种发育过程中发挥作用。Notch信号网络是一个在进化上保守的细胞间信号通路，它调节相邻细胞之间的相互作用。在果蝇中，Notch与其细胞结合的配体（delta、serrate）相互作用，建立了一个在发育中起关键作用的细胞间信号通路。已在人类中鉴定出notch配体的同源物，但这些配体与人类Notch同源物之间的精确相互作用尚待确定。该蛋白在跨高尔基网络中裂解，并以异二聚体的形式呈现在细胞表面。该蛋白作为膜结合配体的受体，可能在血管、肾脏和肝脏的发育中发挥作用。针对该基因，已发现两种转录变体，它们编码不同的异构体。[由RefSeq提供，2011年1月]