NOS2(一氧化氮合酶2)基因编码诱导型一氧化氮合酶(iNOS),属于一氧化氮合酶(NOS)基因家族,该家族还包括神经元型NOS(nNOS/NOS1)和内皮型NOS(eNOS/NOS3)。NOS家族成员均催化L-精氨酸生成一氧化氮(NO)和L-瓜氨酸,但iNOS的特点在于其活性不依赖钙离子,且受炎症刺激诱导表达。iNOS主要在巨噬细胞、肝细胞和血管平滑肌细胞中表达,通过产生大量NO参与免疫防御,可杀伤病原体但过量也会导致组织损伤。NOS2基因突变可能影响NO产量,与感染易感性、炎症性疾病(如类风湿关节炎)和神经退行性疾病相关。NOS2过表达会持续产生过量NO,导致氧化应激和炎症加重,与败血症休克、糖尿病并发症和某些癌症进展有关;而表达降低则可能削弱抗菌能力,增加感染风险。该基因多态性与哮喘、阿尔茨海默病等疾病易感性相关,其调控机制涉及NF-κB等炎症信号通路。
Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
一氧化氮是一种反应性自由基充当在几个过程,包括神经传递和抗菌和抗肿瘤活性一种生物介质。该基因编码一种在肝脏表达是诱导型脂多糖和某些细胞因子的组合的一氧化氮合成酶。三个相关的假基因位于史密斯 - 马盖尼斯综合征区域内的[由RefSeq的,2008年7月提供] 17号染色??体
NOS2基因(以及对应的蛋白质)的细胞分布位置:
NOS2基因的本体(GO)信息:
| 名称 |
|---|
| 330 Arginine and proline metabolism [PATH:hsa00330] |
| 4066 HIF-1 signaling pathway [PATH:hsa04066] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4146 Peroxisome [PATH:hsa04146] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5222 Small cell lung cancer [PATH:hsa05222] |
| 5132 Salmonella infection [PATH:hsa05132] |
| 5133 Pertussis [PATH:hsa05133] |
| 5152 Tuberculosis [PATH:hsa05152] |
| 5146 Amoebiasis [PATH:hsa05146] |
| 5145 Toxoplasmosis [PATH:hsa05145] |
| 5140 Leishmaniasis [PATH:hsa05140] |
| 5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
| 名称 |
|---|
| Disease |
| Hemostasis |
| Infectious disease |
| Latent infection of Homo sapiens with Mycobacterium tuberculosis |
| Nitric oxide stimulates guanylate cyclase |
| Phagosomal maturation (early endosomal stage) |
| Platelet homeostasis |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Psoriasis | 0.243452799 | 5 | 1 | BeFree_CTD_human_GAD_GWASCAT |
| Asthma | 0.232723709 | 31 | 2 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.214745076 | 8 | 0 | BeFree_CTD_human_GAD_RGD |
| Hypertensive disease | 0.209087065 | 11 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Cerebrovascular accident | 0.208544182 | 8 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Sepsis | 0.201357209 | 8 | 1 | BeFree_CTD_human_RGD |
| Colitis | 0.200542884 | 5 | 0 | BeFree_CTD_human_RGD |
| Asbestosis | 0.2 | 2 | 0 | CTD_human_RGD |
| Diabetes Mellitus, Experimental | 0.2 | 3 | 0 | CTD_human_RGD |
| Septic Shock | 0.2 | 2 | 0 | CTD_human_RGD |
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