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Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
[中文简述(自动翻译):]  元器件C2是一个血清糖蛋白,用作补体系统的经典途径的一部分。激活C1 C2裂解成C2A和C2B。丝氨酸蛋白酶C2A然后与补体因子4b的结合来创建C3或C5转化。 C2的缺乏已报道与该基因的某些自身免疫性疾病和SNP已经具有改变的易感性年龄相关性黄斑变性有关相关联。该基因对MHC的III级区域内的本地化染色体6.在多个转录剪接的结果的短臂变体编码不同同种型。额外转录变体已在出版物中描述,但其全长序列尚未确定。[通过的RefSeq,2009年03月提供]
C2基因(以及对应的蛋白质)的细胞分布位置:
C2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
COMPLEMENT COMPONENT 2 DEFICIENCY | 0.36 | 2 | 2 | CLINVAR_CTD_human_UNIPROT |
Age related macular degeneration | 0.292322401 | 24 | 6 | BeFree_CTD_human_GAD_GWASCAT_LHGDN |
Lupus Erythematosus, Systemic | 0.135016517 | 9 | 1 | BeFree_GAD_GWASCAT |
Dermatomyositis | 0.12 | 1 | 0 | CTD_human |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Macular Degeneration, Age-Related, 1 | 0.12 | 0 | 0 | CTD_human |
Choroid Diseases | 0.004734064 | 2 | 0 | GAD |
Diabetes Mellitus, Insulin-Dependent | 0.004734064 | 1 | 1 | GAD |
Retinal Drusen | 0.004734064 | 2 | 0 | GAD |
Peripheral Vascular Diseases | 0.004734064 | 2 | 0 | GAD |
Choroidal Neovascularization | 0.004734064 | 2 | 0 | GAD |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Diffuse Scleroderma | 0.002638474 | 1 | 0 | BeFree_GAD |
Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
Coronary Aneurysm | 0.002367032 | 1 | 0 | GAD |
Coronary heart disease | 0.002367032 | 1 | 0 | GAD |
Cross Infection | 0.002367032 | 1 | 0 | GAD |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002367032 | 1 | 0 | GAD |
HIV Infections | 0.002367032 | 1 | 0 | GAD |
Inflammatory Bowel Diseases | 0.002367032 | 1 | 0 | GAD |
Long QT Syndrome | 0.002367032 | 1 | 0 | GAD |
Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
Mucocutaneous Lymph Node Syndrome | 0.002367032 | 1 | 0 | GAD |
Multiple Sclerosis | 0.002367032 | 1 | 1 | GAD |
Prostatic Neoplasms | 0.002367032 | 1 | 0 | GAD |
Retinal Diseases | 0.002367032 | 1 | 0 | GAD |
Low Vision | 0.002367032 | 1 | 0 | GAD |
Geographic Atrophy | 0.002367032 | 1 | 0 | GAD |
Pneumonia, Ventilator-Associated | 0.002367032 | 1 | 0 | GAD |
exudative macular degeneration | 0.002367032 | 1 | 0 | GAD |
Liver carcinoma | 0.002367032 | 1 | 1 | GAD |
Complement deficiency disease | 0.000814326 | 3 | 0 | BeFree |
Alzheimer's Disease | 0.000542884 | 2 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Angioedemas, Hereditary | 0.000271442 | 1 | 0 | BeFree |
Arthropathy | 0.000271442 | 1 | 0 | BeFree |
Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
Myasthenia Gravis | 0.000271442 | 1 | 0 | BeFree |
Chagas Disease | 0.000271442 | 1 | 0 | BeFree |
Malnutrition | 0.000271442 | 1 | 0 | BeFree |
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