CD14是一种重要的免疫相关基因,编码一种糖基磷脂酰肌醇(GPI)锚定的膜蛋白,主要表达于单核细胞、巨噬细胞和中性粒细胞表面,也可作为可溶性蛋白(sCD14)存在于体液中。其生物学功能是作为模式识别受体(PRR),与脂多糖结合蛋白(LBP)协同作用,识别细菌脂多糖(LPS)等病原体相关分子模式(PAMPs),并将LPS传递给Toll样受体4(TLR4)/MD-2复合物,从而激活NF-κB等信号通路,触发炎症反应和先天免疫应答。CD14在革兰氏阴性菌感染中起关键作用,其作用位点集中在细胞膜或体液中对病原体成分的识别区域。CD14基因突变可能导致功能异常,如某些多态性(如C-159T)与血清sCD14水平变化相关,可能影响对感染的敏感性或脓毒症(sepsis)的严重程度。CD14过度表达可能加剧炎症反应,导致组织损伤或自身免疫疾病(如类风湿关节炎),而表达降低则可能削弱病原体清除能力,增加感染风险。CD14属于LPS受体基因家族,该家族成员均参与病原体识别和免疫激活。此外,CD14还与非感染性疾病相关,如动脉粥样硬化中通过调节炎症促进斑块形成,或通过影响微生物群与肠道免疫互作参与代谢性疾病。在阿尔茨海默病中,CD14可能参与β-淀粉样蛋白的清除。其表达水平受表观遗传(如DNA甲基化)和miRNA调控,并与TLR4、MYD88等基因存在功能关联。
The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Mar 2010]
由该基因编码的蛋白质是在单核细胞/巨噬细胞中优先表达的表面抗原。它与其他蛋白质协作以介导对细菌脂多糖的先天免疫应答。在多个转录剪接的结果变体编码相同的蛋白质。 [由RefSeq的,2010年3月提供]
CD14基因(以及对应的蛋白质)的细胞分布位置:
CD14基因的本体(GO)信息:
| 名称 |
|---|
| 4010 MAPK signaling pathway [PATH:hsa04010] |
| 4064 NF-kappa B signaling pathway [PATH:hsa04064] |
| 4145 Phagosome [PATH:hsa04145] |
| 4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
| 4640 Hematopoietic cell lineage [PATH:hsa04640] |
| 4620 Toll-like receptor signaling pathway [PATH:hsa04620] |
| 5202 Transcriptional misregulation in cancers [PATH:hsa05202] |
| 5130 Pathogenic Escherichia coli infection [PATH:hsa05130] |
| 5132 Salmonella infection [PATH:hsa05132] |
| 5133 Pertussis [PATH:hsa05133] |
| 5134 Legionellosis [PATH:hsa05134] |
| 5152 Tuberculosis [PATH:hsa05152] |
| 5146 Amoebiasis [PATH:hsa05146] |
| 名称 |
|---|
| Activated TLR4 signalling |
| Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon |
| Apoptosis |
| Caspase activation via extrinsic apoptotic signalig pathway |
| Disease |
| Diseases associated with the TLR signaling cascade |
| Diseases of Immune System |
| IKK complex recruitment mediated by RIP1 |
| Immune System |
| Innate Immune System |
| IRAK4 deficiency (TLR2/4) |
| Ligand-dependent caspase activation |
| MyD88 deficiency (TLR2/4) |
| MyD88-independent TLR3/TLR4 cascade |
| MyD88:Mal cascade initiated on plasma membrane |
| Programmed Cell Death |
| Toll Like Receptor 2 (TLR2) Cascade |
| Toll Like Receptor 3 (TLR3) Cascade |
| Toll Like Receptor 4 (TLR4) Cascade |
| Toll Like Receptor TLR1:TLR2 Cascade |
| Toll Like Receptor TLR6:TLR2 Cascade |
| Toll-Like Receptors Cascades |
| TRAF6 mediated induction of TAK1 complex |
| Transfer of LPS from LBP carrier to CD14 |
| TRIF-mediated programmed cell death |
| TRIF-mediated TLR3/TLR4 signaling |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Asthma | 0.214837881 | 57 | 1 | BeFree_CTD_human_GAD_LHGDN |
| Liver Cirrhosis | 0.126634157 | 10 | 2 | BeFree_CTD_human_GAD |
| Juvenile arthritis | 0.122638474 | 2 | 0 | BeFree_CTD_human_GAD |
| Eczema | 0.121628651 | 6 | 0 | BeFree_CTD_human |
| IGA Glomerulonephritis | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Diarrhea | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Non-alcoholic Fatty Liver Disease | 0.12 | 1 | 0 | CTD_human |
| Gout | 0.12 | 1 | 0 | CTD_human |
| Periodontitis | 0.099283643 | 16 | 0 | BeFree_GAD_RGD |
| Cholestasis | 0.085362824 | 2 | 0 | BeFree_GAD_LHGDN_RGD |
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