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The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
[中文简述(自动翻译):]  由该基因编码的蛋白质是一种催化1-磷脂酰1D-肌醇4,5-二磷酸的至1D-肌醇-1,4,5-三磷酸的转化跨膜信令酶(IP3)和二酰基甘油(DAG),使用钙作为辅助因子。 IP3和DAG是第二信使分子跨细胞膜转递生长因子受体和免疫系统的受体的信号非常重要。在这个基因的突变已在autoinflammation,抗体不足,免疫失调综合征和家族性寒冷自身炎症综合征3.被发现[由RefSeq的,2014年3月提供]
PLCG2基因(以及对应的蛋白质)的细胞分布位置:
PLCG2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | 0.36 | 1 | 1 | CLINVAR_ORPHANET_UNIPROT |
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 | 0.24 | 0 | 0 | CLINVAR_ORPHANET |
Lymphoma | 0.00272435 | 1 | 0 | LHGDN |
Stomach Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Malignant neoplasm of breast | 0.002638474 | 2 | 0 | BeFree_GAD |
Bipolar Disorder | 0.002367032 | 1 | 0 | GAD |
HIV Infections | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Chronic Lymphocytic Leukemia | 0.001085767 | 4 | 0 | BeFree |
Immunologic Deficiency Syndromes | 0.000271442 | 1 | 0 | BeFree |
Nephroblastoma | 0.000271442 | 1 | 0 | BeFree |
Osteoporosis, Postmenopausal | 0.000271442 | 1 | 0 | BeFree |
Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
Urticaria due to cold | 0.000271442 | 1 | 0 | BeFree |
Steroid-sensitive nephrotic syndrome | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Oestrogen deficiency | 0.000271442 | 1 | 0 | BeFree |
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