NRG2(神经调节蛋白2)属于神经调节蛋白(Neuregulin,NRG)家族,该家族是一类重要的生长因子,主要参与细胞间信号传导,尤其在神经系统和心血管系统的发育与功能维持中起关键作用。NRG家族共有四个成员(NRG1-4),它们共同的特点是含有表皮生长因子(EGF)样结构域,能够激活ErbB受体酪氨酸激酶(如ErbB3和ErbB4),进而调控细胞增殖、分化、迁移和存活等过程。NRG2主要在中枢神经系统、心脏和乳腺等组织中表达,其功能包括促进神经元存活、突触可塑性以及心肌细胞的发育与修复。NRG2通过结合ErbB3/ErbB4受体激活下游信号通路(如PI3K-AKT和MAPK),影响神经元的形态发生和突触传递效率。NRG2的突变或表达异常与多种疾病相关,例如精神分裂症、抑郁症和阿尔茨海默病等神经精神疾病,其机制可能与突触功能紊乱或神经保护作用减弱有关。此外,NRG2在乳腺癌中也可能发挥作用,因其过表达可能通过ErbB信号通路促进肿瘤细胞生长。若NRG2表达降低,可能导致神经元凋亡增加、突触可塑性受损,进而引发认知功能障碍或情绪障碍;而过表达则可能异常激活ErbB通路,增加肿瘤风险或导致心脏肥大。NRG家族成员的冗余性使得单一基因的缺失可能被部分补偿,但NRG2特异性调控某些脑区(如海马)的突触形成,其功能不可完全替代。研究还发现NRG2与NRG1功能部分重叠,但NRG2对特定神经元亚群的存活作用更为显著。总体而言,NRG2是神经和心血管系统健康的关键调节因子,其表达平衡对维持正常生理功能至关重要。
This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010]
该基因编码神经调节蛋白家族的生长和分化因子的一个新成员。通过与ErbB家族受体的相互作用,该蛋白诱导的生长和上皮细胞,神经细胞,神经胶质的分化,和其他类型的细胞。该基因由12个外显子和基因组结构类似于神经调节蛋白1,神经调节蛋白家族配体的另一成员。这些基因的产物通过在组织中的不同位点作用,并在细胞中引发不同的生物反应介导不同的生物学过程。该基因靠近的脱髓鞘腓骨肌萎缩症基因座的区域,但不负责这种疾病。编码不同同种型的替代转录变体已有描述。 [由RefSeq的,2010年5月提供]
NRG2基因(以及对应的蛋白质)的细胞分布位置:
NRG2基因的本体(GO)信息:
名称 |
---|
4012 ErbB signaling pathway [PATH:hsa04012] |
名称 |
---|
Adaptive Immune System |
Constitutive Signaling by Aberrant PI3K in Cancer |
DAP12 interactions |
DAP12 signaling |
Disease |
Diseases of signal transduction |
Downregulation of ERBB2:ERBB3 signaling |
Downstream signal transduction |
Downstream signaling events of B Cell Receptor (BCR) |
Downstream signaling of activated FGFR1 |
Downstream signaling of activated FGFR2 |
Downstream signaling of activated FGFR3 |
Downstream signaling of activated FGFR4 |
Fc epsilon receptor (FCERI) signaling |
GAB1 signalosome |
GRB2 events in ERBB2 signaling |
GRB7 events in ERBB2 signaling |
Immune System |
Innate Immune System |
NGF signalling via TRKA from the plasma membrane |
Nuclear signaling by ERBB4 |
PI-3K cascade:FGFR1 |
PI-3K cascade:FGFR2 |
PI-3K cascade:FGFR3 |
PI-3K cascade:FGFR4 |
PI3K events in ERBB2 signaling |
PI3K events in ERBB4 signaling |
PI3K/AKT activation |
PI3K/AKT Signaling in Cancer |
PIP3 activates AKT signaling |
Role of LAT2/NTAL/LAB on calcium mobilization |
SHC1 events in ERBB2 signaling |
SHC1 events in ERBB4 signaling |
Signaling by EGFR |
Signaling by ERBB2 |
Signaling by ERBB4 |
Signaling by FGFR |
Signaling by FGFR1 |
Signaling by FGFR2 |
Signaling by FGFR3 |
Signaling by FGFR4 |
Signaling by PDGF |
Signaling by SCF-KIT |
Signaling by the B Cell Receptor (BCR) |
Signalling by NGF |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Glaucoma, Open-Angle | 0.00272435 | 1 | 0 | LHGDN |
Schizophrenia | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Charcot-Marie-Tooth Disease | 0.000271442 | 1 | 0 | BeFree |
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