NRG3 (neuregulin 3)
- symbol:
- NRG3
- locus group:
- protein-coding gene
- location:
- 10q23.1
- gene_family:
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 10718
- ensembl gene id:
- ENSG00000185737
- ucsc gene id:
- uc001kco.3
- refseq accession:
- NM_001010848
- hgnc_id:
- HGNC:7999
- approved reserved:
- 1999-03-19
NRG3（Neuregulin 3）是神经调节蛋白（Neuregulin）家族的一员，属于表皮生长因子（EGF）样蛋白家族。该家族共有四个成员（NRG1、NRG2、NRG3、NRG4），它们通过激活ErbB受体酪氨酸激酶（如ErbB4）参与细胞间信号传导，调控神经发育、突触可塑性及细胞增殖等过程。NRG3主要在神经系统表达，尤其在大脑皮层、海马及嗅球中丰度较高，其功能与神经元迁移、突触形成及神经回路建立密切相关。NRG3通过剪切释放EGF样结构域与ErbB4结合，激活下游MAPK或PI3K/AKT通路，影响神经细胞分化和存活。 NRG3的突变或表达异常与多种精神疾病相关。例如，全基因组关联研究（GWAS）发现NRG3单核苷酸多态性（SNPs）与精神分裂症风险显著相关，可能通过破坏突触功能或髓鞘形成导致认知障碍。此外，NRG3表达降低可能损害神经元网络连接，而过度表达可能引发异常信号传导，干扰神经发育平衡。在小鼠模型中，NRG3缺失会导致社交行为缺陷和焦虑样表型，模拟人类精神疾病的部分症状。 NRG3与NRG1功能部分重叠，但NRG3对ErbB4的亲和力更高，且在中枢神经系统的作用更特异。NRG家族共性包括：均含有EGF样结构域，依赖ErbB受体激活信号通路，并参与组织发育（如心脏、乳腺和神经系统）。NRG3的独特之处在于其启动子区域富含CpG岛，表观遗传调控（如DNA甲基化）可能显著影响其表达水平。 若NRG3过表达，可能过度激活ErbB4通路，导致神经元过度增殖或突触异常，增加癫痫或肿瘤风险；而表达不足则可能引发神经发育迟缓或精神障碍。此外，NRG3表达变化可能间接影响其他神经调节基因（如BDNF或NRG1）的功能，形成级联效应。总体而言，NRG3是神经发育和精神疾病研究的关键靶点，其调控机制和病理关联仍需进一步探索。
This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]
此基因是神经调节蛋白基因家族的一个成员。该基因家族编码的跨膜酪氨酸激酶受体ERBB3和ERBB4配体 - 表皮生长因子受体家族的成员。配体结合交流tivates细胞内的信号级联和包括增殖，迁移，分化和存活或凋亡细胞应答的诱导。该基因编码神经调节蛋白3（NRG3）。 NRG3已显示激活其同源受体，ERBB4的酪氨酸磷酸化，并且被认为通过ERBB4信令来影响神经细胞的增殖，迁移和分化。胚胎发育过程中NRG3也促进乳腺的分化。连锁研究已经牵连这种基因作为易感位点精神分裂症和分裂情感障碍。在多个转录剪接变异体结果不同编码的亚型。其他转录变异体进行了说明，但其生物有效性尚未得到验证。[由RefSeq的，2009年09月提供]
基因本体信息
NRG3基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
NRG3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 |
| 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 |
| 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 |
| Schizophrenia | 0.129544073 | 10 | 0 | BeFree_CTD_human_GAD |
| Tobacco Use Disorder | 0.004734064 | 2 | 0 | GAD |
| Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | 0.002367032 | 1 | 0 | GAD |
| Esophagitis | 0.002367032 | 1 | 1 | GAD |
| Mental disorders | 0.002367032 | 1 | 0 | GAD |
| Blood pressure finding | 0.002367032 | 1 | 1 | GAD |
| Attention deficit hyperactivity disorder | 0.002367032 | 1 | 0 | GAD |
| Systemic arterial pressure | 0.002367032 | 1 | 1 | GAD |
| Delusions | 0.000814326 | 3 | 3 | BeFree |
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