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ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  ITGA2B编码整合素链2B。整合素是一个α链和一个β链组成的异二聚体整合膜蛋白。 α链2b中发生的翻译后切割产生二硫键连接的轻链和重链与测试3连接形成在血小板中表达的纤连蛋白受体,播放在凝固了至关重要的作用。与在thrombasthenia此角色结果干扰突变。除了粘合性,整联是已知参与细胞表面介导的信号。 [由RefSeq的,2008年7月提供]
ITGA2B基因(以及对应的蛋白质)的细胞分布位置:
ITGA2B基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Thrombasthenia | 0.51664816 | 64 | 10 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET_UNIPROT |
Glanzmann Thrombasthenia, Autosomal Dominant | 0.32 | 2 | 0 | CLINVAR_MGD_UNIPROT |
Cerebrovascular accident | 0.223103692 | 12 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
Thrombocytopenia | 0.124734064 | 3 | 0 | CTD_human_GAD |
Carotid Artery Thrombosis | 0.12 | 1 | 0 | CTD_human |
Cerebral Hemorrhage | 0.12 | 1 | 0 | CTD_human |
Juvenile arthritis | 0.12 | 1 | 0 | CTD_human |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Endotoxemia | 0.08 | 1 | 0 | RGD |
Myocardial Infarction | 0.027751879 | 14 | 0 | BeFree_GAD_LHGDN |
Coronary heart disease | 0.011368221 | 10 | 0 | BeFree_GAD |
Thrombosis | 0.009825446 | 4 | 0 | GAD_LHGDN |
Coronary Artery Disease | 0.008815624 | 7 | 0 | BeFree_GAD_LHGDN |
Coronary Arteriosclerosis | 0.008186863 | 7 | 0 | BeFree_GAD |
Lymphoproliferative Disorders | 0.007101096 | 3 | 0 | GAD |
Ischemic stroke | 0.00554839 | 5 | 0 | BeFree_GAD |
Brain Ischemia | 0.004734064 | 2 | 0 | GAD |
Lupus Erythematosus, Systemic | 0.004734064 | 2 | 0 | GAD |
Restenosis | 0.004734064 | 2 | 0 | GAD |
Acute Coronary Syndrome | 0.003724241 | 5 | 0 | BeFree_GAD |
Immune thrombocytopenic purpura | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Arteriosclerosis | 0.003181358 | 4 | 0 | BeFree_GAD |
Schizophrenia | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Aplastic Anemia | 0.00272435 | 1 | 0 | LHGDN |
Takayasu Arteritis | 0.00272435 | 1 | 0 | LHGDN |
Kidney Failure, Chronic | 0.002638474 | 2 | 0 | BeFree_GAD |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Anemia, Sickle Cell | 0.002367032 | 1 | 0 | GAD |
Cerebrovascular Disorders | 0.002367032 | 1 | 0 | GAD |
Diabetic Retinopathy | 0.002367032 | 1 | 0 | GAD |
Graft Occlusion, Vascular | 0.002367032 | 1 | 0 | GAD |
Ischemia | 0.002367032 | 1 | 0 | GAD |
Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
Retinal vascular occlusion | 0.002367032 | 1 | 0 | GAD |
Thromboangiitis Obliterans | 0.002367032 | 1 | 0 | GAD |
Antiphospholipid Syndrome | 0.002367032 | 1 | 0 | GAD |
Brain hemorrhage | 0.002367032 | 1 | 0 | GAD |
myocardial injury | 0.002367032 | 1 | 0 | GAD |
Vaso-occlusive crisis | 0.002367032 | 1 | 0 | GAD |
beta Thalassemia | 0.001900093 | 7 | 0 | BeFree |
Blood Coagulation Disorders | 0.001900093 | 7 | 0 | BeFree |
Angina, Unstable | 0.000814326 | 3 | 0 | BeFree |
Atherosclerosis | 0.000814326 | 3 | 0 | BeFree |
Ischemic Cerebrovascular Accident | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Coronary Thrombosis | 0.000542884 | 2 | 0 | BeFree |
leukemia | 0.000542884 | 2 | 0 | BeFree |
Acute Megakaryocytic Leukemias | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Thrombocytosis | 0.000542884 | 2 | 0 | BeFree |
Brooke-Spiegler syndrome | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Bernard-Soulier Syndrome | 0.000271442 | 1 | 0 | BeFree |
Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Heroin Dependence | 0.000271442 | 1 | 3 | BeFree |
Hypertensive disease | 0.000271442 | 1 | 0 | BeFree |
Leukodystrophy | 0.000271442 | 1 | 0 | BeFree |
Malaria | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Myeloproliferative disease | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Polycythemia Vera | 0.000271442 | 1 | 0 | BeFree |
Thrombocythemia, Essential | 0.000271442 | 1 | 0 | BeFree |
Unipolar Depression | 0.000271442 | 1 | 0 | BeFree |
Hypokinesia | 0.000271442 | 1 | 0 | BeFree |
Canavan Disease | 0.000271442 | 1 | 0 | BeFree |
Neonatal thrombocytopenia (disorder) | 0.000271442 | 1 | 0 | BeFree |
Acute Undifferentiated Leukemia | 0.000271442 | 1 | 0 | BeFree |
Anaplastic Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Mood Disorders | 0.000271442 | 1 | 1 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Well Differentiated Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Arteriopathic disease | 0.000271442 | 1 | 0 | BeFree |
Major Depressive Disorder | 0.000271442 | 1 | 0 | BeFree |
Von Willebrand disease, platelet type | 0.000271442 | 1 | 0 | BeFree |
Congenital amegakaryocytic thrombocytopenia | 0.000271442 | 1 | 0 | BeFree |
Undifferentiated leukemia | 0.000271442 | 1 | 0 | BeFree |
Non-ST elevation (NSTEMI) myocardial infarction | 0.000271442 | 1 | 0 | BeFree |
MYELOPROLIFERATIVE SYNDROME, TRANSIENT | 0.000271442 | 1 | 0 | BeFree |
Myeloid neoplasm | 0.000271442 | 1 | 0 | BeFree |
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