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This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
[中文简述(自动翻译):]  该基因编码的免疫球蛋白超家族的血小板膜糖蛋白。所编码的蛋白质为胶原受体和起着胶原诱导的血小板聚集和血栓形成的关键作用。所编码的蛋白与发起所述血小板活化的信号级联在胶原结合的Fc受体的γ链的复合物。在这个基因的突变是血小板型出血造成混乱-11(BDPLT11)。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的,2011年12月提供]
GP6基因(以及对应的蛋白质)的细胞分布位置:
GP6基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
BLEEDING DISORDER, PLATELET-TYPE, 11 | 0.36 | 2 | 1 | CLINVAR_ORPHANET_UNIPROT |
Myocardial Infarction | 0.009272631 | 9 | 0 | BeFree_GAD |
Thrombosis | 0.007458414 | 3 | 0 | GAD_LHGDN |
Brain Ischemia | 0.004734064 | 2 | 0 | GAD |
Hemorrhage | 0.004734064 | 2 | 0 | GAD |
Coronary heart disease | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Coronary Artery Disease | 0.003181358 | 4 | 0 | BeFree_GAD |
Coronary Thrombosis | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Cerebrovascular accident | 0.002909916 | 3 | 0 | BeFree_GAD |
Hepatitis C | 0.00272435 | 1 | 0 | LHGDN |
Deep Vein Thrombosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
Carotid Stenosis | 0.002367032 | 1 | 0 | GAD |
Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Vascular Diseases | 0.002367032 | 1 | 0 | GAD |
Venous Thrombosis | 0.002367032 | 1 | 1 | GAD |
Myocardial Ischemia | 0.002367032 | 1 | 0 | GAD |
Brain Infarction | 0.002367032 | 1 | 0 | GAD |
Acute Coronary Syndrome | 0.002367032 | 1 | 0 | GAD |
Venous Thromboembolism | 0.002367032 | 1 | 0 | GAD |
Blood Coagulation Disorders | 0.001085767 | 4 | 0 | BeFree |
Ischemic stroke | 0.001085767 | 4 | 1 | BeFree |
Coronary Arteriosclerosis | 0.000814326 | 3 | 0 | BeFree |
Arterial thrombosis | 0.000814326 | 3 | 0 | BeFree |
Cardiovascular Diseases | 0.000542884 | 2 | 1 | BeFree |
Diabetes | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus | 0.000542884 | 2 | 0 | BeFree |
Diabetic Retinopathy | 0.000542884 | 2 | 0 | BeFree |
Acute myocardial infarction | 0.000542884 | 2 | 0 | BeFree |
von Willebrand Disease, Type 1 | 0.000542884 | 2 | 0 | BeFree |
Ischemic Cerebrovascular Accident | 0.000542884 | 2 | 1 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Chest Pain | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Heart failure | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Immune System Diseases | 0.000271442 | 1 | 0 | BeFree |
Myeloproliferative disease | 0.000271442 | 1 | 0 | BeFree |
von Willebrand Disease | 0.000271442 | 1 | 0 | BeFree |
Malnutrition | 0.000271442 | 1 | 0 | BeFree |
Acute disease of cardiovascular system | 0.000271442 | 1 | 0 | BeFree |
Vascular lesions | 0.000271442 | 1 | 0 | BeFree |
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