KLRC2(Killer Cell Lectin-Like Receptor Subfamily C, Member 2)属于NK细胞凝集素样受体C亚家族(KLR家族),该家族主要编码自然杀伤(NK)细胞表面的受体蛋白,参与免疫调节和细胞识别。KLRC2编码的蛋白NKG2C与CD94形成异源二聚体,识别非经典MHC I类分子HLA-E,从而激活NK细胞的杀伤功能。该基因在病毒感染(如巨细胞病毒)和肿瘤免疫监视中起关键作用。KLRC2的突变可能导致NK细胞功能异常,与自身免疫疾病、慢性病毒感染和癌症易感性相关。过表达KLRC2会增强NK细胞对病毒感染细胞的清除能力,但可能引发过度免疫反应;表达降低则可能导致免疫缺陷,增加感染风险。KLRC2与KLRC1、KLRC3等同属KLR家族,这些基因均编码NK细胞表面受体,通过识别MHC分子调控免疫应答。研究表明,KLRC2在巨细胞病毒感染后会发生克隆扩增,其表达水平与疾病预后相关。该基因的遗传多态性可能影响个体对特定病原体的易感性。
Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
自然杀伤(NK)细胞是可介导某些肿瘤细胞和病毒感染细胞的裂解而不先前活化淋巴细胞。它们还可以调节特异性体液和细胞介导的??免疫。 NK细胞优先表达几种钙依赖性(C型)凝集素,已在NK细胞功能的调节有牵连。的组中,指定KLRC(NKG2)表示主要在自然杀伤(NK)细胞和编码一个家族的跨膜蛋白特征在于II型膜取向(胞外C末端)和C型凝集素结构域的存在。所述KLRC(NKG2)基因家族位于NK复杂,它包含在NK细胞中优先表达的几种C-型凝集素基因的区域内。 KLRC2备选剪接变体已被描述,但是它们的全长性质尚未确定。 [由RefSeq的,2008年7月提供]
KLRC2基因(以及对应的蛋白质)的细胞分布位置:
KLRC2基因的本体(GO)信息:
名称 |
---|
4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
4612 Antigen processing and presentation [PATH:hsa04612] |
名称 |
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DAP12 interactions |
DAP12 signaling |
Immune System |
Innate Immune System |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Creutzfeldt-Jakob disease | 0.12 | 1 | 0 | CTD_human |
Rheumatoid Arthritis | 0.00554839 | 3 | 0 | BeFree_GAD |
Rheumatism | 0.002367032 | 1 | 0 | GAD |
Lupus Erythematosus | 0.002367032 | 1 | 0 | GAD |
Behcet Syndrome | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Cytomegalovirus Infections | 0.001085767 | 4 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000814326 | 3 | 0 | BeFree |
Coinfection | 0.000542884 | 2 | 0 | BeFree |
HIV Infections | 0.000542884 | 2 | 0 | BeFree |
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