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This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
[中文简述(自动翻译):]  这个基因编码补体因子4,古典活化途径的一部分的酸性形式。该蛋白质被表达为被蛋白水解裂解为α,β,和之前分泌γ链的三聚体的单链前体。三聚体提供了一个表面,用于抗原 - 抗体复合物和其它补体成分之间的相互作用。阿尔法链裂解C4释放过敏毒素,抗菌肽和局部炎症的调解人。这种蛋白不足与系统性红斑狼疮和I型糖尿病有关。该基因定位于主要组织相容性复合体(MHC)类第三区域染色体6.变该基因簇的单倍型存在,例如,个人可以具有这种基因的1,2或3个拷贝。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2014年11月提供]
C4A基因(以及对应的蛋白质)的细胞分布位置:
C4A基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Lupus Erythematosus, Systemic | 0.23409085 | 26 | 0 | BeFree_CTD_human_GAD_LHGDN_MGD |
Behcet Syndrome | 0.12 | 0 | 0 | ORPHANET |
Immunologic Deficiency Syndromes | 0.12 | 1 | 0 | CTD_human |
Autoimmune Diseases | 0.008630058 | 6 | 0 | BeFree_GAD_LHGDN |
Lupus Erythematosus | 0.00764398 | 5 | 0 | BeFree_GAD |
Congenital adrenal hyperplasia | 0.003181358 | 4 | 0 | BeFree_GAD |
Psoriasis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Juvenile arthritis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Graves Disease | 0.002909916 | 2 | 0 | BeFree_GAD |
Asthma | 0.00272435 | 1 | 0 | LHGDN |
Inflammation | 0.00272435 | 1 | 0 | LHGDN |
Chronic Obstructive Airway Disease | 0.00272435 | 1 | 0 | LHGDN |
Chronic Periodontitis | 0.00272435 | 1 | 0 | LHGDN |
Capillary Leak Syndrome | 0.00272435 | 1 | 0 | LHGDN |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Liver Cirrhosis | 0.002367032 | 1 | 0 | GAD |
Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
Opportunistic Infections | 0.002367032 | 1 | 0 | GAD |
Henoch-Schoenlein Purpura | 0.002367032 | 1 | 0 | GAD |
Meningitis, Bacterial | 0.002367032 | 1 | 0 | GAD |
Hepatopulmonary Syndrome | 0.002367032 | 1 | 0 | GAD |
Diffuse Scleroderma | 0.002367032 | 1 | 0 | GAD |
Diabetes Mellitus, Insulin-Dependent | 0.001900093 | 7 | 0 | BeFree |
Rheumatoid Arthritis | 0.001628651 | 6 | 0 | BeFree |
Protein Deficiency | 0.001357209 | 5 | 0 | BeFree |
Autistic Disorder | 0.001085767 | 4 | 0 | BeFree |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | 0.001085767 | 4 | 0 | BeFree |
Complement Component 4a Deficiency | 0.001085767 | 4 | 0 | BeFree |
Alzheimer's Disease | 0.000814326 | 3 | 0 | BeFree |
Cardiovascular Diseases | 0.000814326 | 3 | 0 | BeFree |
Sudden infant death syndrome | 0.000814326 | 3 | 0 | BeFree |
Disease of capillaries | 0.000814326 | 3 | 0 | BeFree |
21-hydroxylase deficiency | 0.000814326 | 3 | 0 | BeFree |
Primary biliary cirrhosis | 0.000542884 | 2 | 0 | BeFree |
Presenile dementia | 0.000542884 | 2 | 0 | BeFree |
Glomerulonephritis | 0.000542884 | 2 | 0 | BeFree |
Lupus Vulgaris | 0.000542884 | 2 | 0 | BeFree |
Lupus Erythematosus, Discoid | 0.000542884 | 2 | 0 | BeFree |
Takayasu Arteritis | 0.000542884 | 2 | 0 | BeFree |
Acute myocardial infarction | 0.000542884 | 2 | 0 | BeFree |
Immunoglobulin A deficiency (disorder) | 0.000542884 | 2 | 0 | BeFree |
Dementia | 0.000542884 | 2 | 0 | BeFree |
Attention deficit hyperactivity disorder | 0.000542884 | 2 | 0 | BeFree |
COMPLEMENT COMPONENT 4B DEFICIENCY | 0.000542884 | 2 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Immune System Diseases | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Subacute Cutaneous | 0.000271442 | 1 | 0 | BeFree |
Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Silicosis | 0.000271442 | 1 | 0 | BeFree |
Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
Vitiligo | 0.000271442 | 1 | 0 | BeFree |
Idiopathic Membranous Glomerulonephritis | 0.000271442 | 1 | 0 | BeFree |
Hepatitis, Autoimmune | 0.000271442 | 1 | 0 | BeFree |
Salt-losing congenital adrenal hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Sjogren's Syndrome | 0.000271442 | 1 | 0 | BeFree |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Adrenal incidentaloma | 0.000271442 | 1 | 0 | BeFree |
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