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The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing cell-mediated immunity. This protein enhances the IL18-binding activity of the IL18 receptor and plays a role in signaling by IL18. Mutations in this gene are associated with Crohn's disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
[中文简述(自动翻译):]  由该基因编码的蛋白质是白细胞介素-18(IL18)的异源二聚体受体的附件亚基,参与诱导细胞介导的??免疫一个促炎性细胞因子。这种蛋白提高了IL18受体的IL18结合活性和起着由IL18信号的作用。在这种基因突变与克罗恩病和炎性肠病,和易感性腹腔疾病和麻风病相关联。这个基因的可变剪接转录物变体已有描述,但是它们的全长性质是未知的。 [由RefSeq的,2014年2月提供]
IL18RAP基因(以及对应的蛋白质)的细胞分布位置:
IL18RAP基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Crohn Disease | 0.12973957 | 4 | 1 | BeFree_GAD_GWASCAT |
Ulcerative Colitis | 0.125005506 | 3 | 0 | BeFree_CTD_human_GAD |
Inflammatory Bowel Diseases | 0.124734064 | 3 | 0 | CTD_human_GAD |
Celiac Disease | 0.020379342 | 8 | 2 | BeFree_GAD_LHGDN |
Diabetes Mellitus, Insulin-Dependent | 0.008186863 | 5 | 0 | BeFree_GAD |
Asthma | 0.005091382 | 1 | 0 | GAD_LHGDN |
Autoimmune Diseases | 0.002367032 | 1 | 0 | GAD |
Coronary Arteriosclerosis | 0.002367032 | 1 | 0 | GAD |
Coronary heart disease | 0.002367032 | 1 | 0 | GAD |
Intervertebral Disk Displacement | 0.002367032 | 1 | 0 | GAD |
Degenerative polyarthritis | 0.002367032 | 1 | 0 | GAD |
Chronic ulcerative colitis | 0.002367032 | 1 | 0 | GAD |
Juvenile arthritis | 0.002367032 | 1 | 0 | GAD |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Esophageal Diseases | 0.000271442 | 1 | 1 | BeFree |
Leprosy | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma Of Esophagus | 0.000271442 | 1 | 1 | BeFree |
Acute GVH disease | 0.000271442 | 1 | 0 | BeFree |
Ischemic stroke | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation, X-Linked | 0.000271442 | 1 | 0 | BeFree |
Ischemic Cerebrovascular Accident | 0.000271442 | 1 | 0 | BeFree |
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