CD19是一种B细胞特异性表面蛋白,属于免疫球蛋白超家族(Immunoglobulin Superfamily),主要表达于B细胞及其前体细胞表面,是B细胞受体(BCR)复合物的关键共刺激分子。其生物学功能包括参与B细胞活化、增殖和信号转导,通过与CD21、CD81等分子形成复合物,降低B细胞激活阈值,增强抗原呈递和免疫应答。CD19的胞内段含有多个酪氨酸磷酸化位点,可招募下游信号分子如PI3K(磷脂酰肌醇3激酶)和Vav,调控B细胞发育及抗体产生。突变可能导致功能异常,例如CD19缺失突变会引起普通变异型免疫缺陷病(CVID),表现为抗体生成障碍和反复感染;而某些获得性突变可能引发B细胞过度活化,与自身免疫疾病(如系统性红斑狼疮)或B细胞恶性肿瘤(如急性淋巴细胞白血病)相关。CD19过表达常见于B细胞淋巴瘤和慢性淋巴细胞白血病(CLL),导致细胞异常增殖和存活;而敲低或缺失会削弱体液免疫,增加感染风险。该基因属于CD19基因家族(CD19 family),成员均含免疫球蛋白样结构域,介导细胞间相互作用。在CAR-T(嵌合抗原受体T细胞)疗法中,CD19作为靶点被广泛用于治疗复发/难治性B细胞肿瘤,但靶向治疗后可能出现CD19阴性逃逸突变。其表达水平还影响其他B细胞相关基因(如PAX5、BLNK)的功能,形成调控网络。专业术语解释:B细胞受体(BCR)是B细胞识别抗原的膜蛋白复合物;PI3K是参与细胞生长和代谢的激酶;CAR-T是通过基因工程改造T细胞靶向肿瘤的免疫疗法。
Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation. [provided by RefSeq, Jul 2008]
淋巴细胞增殖,并且响应于不同浓度的不同抗原的分化。 B细胞的在一个特定的,但敏感的方式对各种抗原的反应能力是通过使用低亲和力抗原受体来实现的。这个基因编码与B淋巴细胞的抗原受体组装,以降低对抗原受体依赖性刺激阈值的细胞表面分子。 [由RefSeq的,2008年7月提供]
CD19基因(以及对应的蛋白质)的细胞分布位置:
CD19基因的本体(GO)信息:
名称 |
---|
4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
4640 Hematopoietic cell lineage [PATH:hsa04640] |
4662 B cell receptor signaling pathway [PATH:hsa04662] |
5340 Primary immunodeficiency [PATH:hsa05340] |
5169 Epstein-Barr virus infection [PATH:hsa05169] |
名称 |
---|
Adaptive Immune System |
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
Constitutive Signaling by Aberrant PI3K in Cancer |
DAP12 interactions |
DAP12 signaling |
Disease |
Diseases of signal transduction |
Downstream signal transduction |
Downstream signaling events of B Cell Receptor (BCR) |
Downstream signaling of activated FGFR1 |
Downstream signaling of activated FGFR2 |
Downstream signaling of activated FGFR3 |
Downstream signaling of activated FGFR4 |
Fc epsilon receptor (FCERI) signaling |
GAB1 signalosome |
Immune System |
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
Innate Immune System |
NGF signalling via TRKA from the plasma membrane |
PI-3K cascade:FGFR1 |
PI-3K cascade:FGFR2 |
PI-3K cascade:FGFR3 |
PI-3K cascade:FGFR4 |
PI3K events in ERBB2 signaling |
PI3K events in ERBB4 signaling |
PI3K/AKT activation |
PI3K/AKT Signaling in Cancer |
PIP3 activates AKT signaling |
Role of LAT2/NTAL/LAB on calcium mobilization |
Signal Transduction |
Signaling by EGFR |
Signaling by ERBB2 |
Signaling by ERBB4 |
Signaling by FGFR |
Signaling by FGFR1 |
Signaling by FGFR2 |
Signaling by FGFR3 |
Signaling by FGFR4 |
Signaling by PDGF |
Signaling by SCF-KIT |
Signaling by the B Cell Receptor (BCR) |
Signalling by NGF |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Common Variable Immunodeficiency | 0.243528744 | 14 | 0 | BeFree_CTD_human_ORPHANET |
Agammaglobulinemia | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Antibody Deficiency due to Defect in CD19 | 0.12 | 0 | 0 | CLINVAR |
Chronic Lymphocytic Leukemia | 0.019000931 | 70 | 0 | BeFree |
leukemia | 0.017663585 | 47 | 0 | BeFree_LHGDN |
Precursor B-cell lymphoblastic leukemia | 0.013843535 | 51 | 0 | BeFree |
Acute lymphocytic leukemia | 0.011129117 | 41 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.010596165 | 29 | 0 | BeFree_LHGDN |
Lupus Erythematosus, Systemic | 0.010162901 | 21 | 0 | BeFree_GAD |
Lymphoma | 0.009771907 | 36 | 0 | BeFree |
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