CLEC4M(C-type lectin domain family 4 member M)是一种属于C型凝集素(C-type lectin)基因家族的基因,其编码的蛋白质是一种糖结合蛋白,能够识别并结合特定的糖类结构。C型凝集素家族成员通常参与免疫调节、病原体识别和细胞间相互作用。CLEC4M主要在肝脏、淋巴结和内皮细胞中表达,其蛋白产物通过与病毒或细菌表面的糖类结构结合,帮助机体识别并清除病原体,从而在先天免疫中发挥重要作用。CLEC4M也被称为L-SIGN(Liver/lymph node-specific ICAM-3 grabbing non-integrin),它能够结合ICAM-3(细胞间黏附分子-3),参与免疫细胞的迁移和激活。该基因的突变可能影响其与病原体或宿主分子的结合能力,导致免疫防御功能下降,增加感染风险。例如,某些CLEC4M的遗传变异与HIV、乙肝病毒(HBV)和丙肝病毒(HCV)感染的易感性相关。此外,CLEC4M在肿瘤微环境中可能通过调节免疫细胞功能影响肿瘤进展。如果CLEC4M过表达,可能会增强病原体清除能力,但也可能过度激活免疫反应,导致炎症性疾病;而降低表达则可能削弱免疫防御,增加感染风险。C型凝集素家族的共性包括依赖钙离子(Ca²⁺)的糖类结合能力,以及参与免疫识别、炎症反应和细胞信号传导。该家族成员通常具有保守的碳水化合物识别结构域(CRD, carbohydrate recognition domain),能够识别病原体或异常细胞的糖链结构,从而触发免疫应答。CLEC4M及其家族成员在感染、自身免疫疾病和癌症中具有潜在的治疗靶点价值。
This gene encodes a transmembrane receptor and is often referred to as L-SIGN because of its expression in the endothelial cells of the lymph nodes and liver. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses, with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are common and have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 30835; often referred to as DC-SIGN or CD209). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009]
这个基因编码的跨膜受体,并且通常被称为L-SIGN,因为其在淋巴结和肝的血管内皮细胞中的表达。所编码的蛋白质是参与先天免疫系统,并认识许多进化分歧病原体从寄生虫病毒,对公众健康有很大的影响。该蛋白质被分为三个不同的结构域:N-末端跨膜结构域,串联重复颈域和C型凝集素的碳水化合物识别结构域。由C型凝集素和颈结构域的胞外区具有双重功能作为病原体识别受体和由微生物和内源性细胞的表面上的结合糖的配体的细胞粘附受体。颈部区域为同型寡聚允许受体结合的多价配体以高亲合力重要。在此蛋白质的颈部域23氨基酸重复数变化是常见的,并且对配体结合的能力的显著影响。该基因是在这两个序列和功能到相邻基因方面密切相关(GeneID 30835;通常被称为DC-SIGN或CD209)。 DC-SIGN和L-SIGN在其配体结合特性和分布不同。选择性剪接产生多个变种。[由RefSeq的,2009年2月提供]
CLEC4M基因(以及对应的蛋白质)的细胞分布位置:
CLEC4M基因的本体(GO)信息:
名称 |
---|
4145 Phagosome [PATH:hsa04145] |
5152 Tuberculosis [PATH:hsa05152] |
5162 Measles [PATH:hsa05162] |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
HIV Infections | 0.025103474 | 19 | 0 | BeFree_GAD |
Infection | 0.013621751 | 5 | 0 | LHGDN |
Hepatitis C | 0.01036833 | 5 | 0 | BeFree_GAD_LHGDN |
Severe Acute Respiratory Syndrome | 0.007729856 | 3 | 0 | BeFree_GAD_LHGDN |
Sexually Transmitted Diseases | 0.002367032 | 1 | 0 | GAD |
von Willebrand Disease, Type 1 | 0.000271442 | 1 | 0 | BeFree |
Drug usage | 0.000271442 | 1 | 0 | BeFree |
Tuberculosis | 0.000271442 | 1 | 0 | BeFree |
pathologic fistula | 0.000271442 | 1 | 0 | BeFree |
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