FCN3 (ficolin 3)
- symbol:
- FCN3
- locus group:
- protein-coding gene
- location:
- 1p36.11
- gene_family:
- Fibrinogen C domain containing
- alias symbol:
- FCNH|HAKA1
- alias name:
- Hakata antigen
- entrez id:
- 8547
- ensembl gene id:
- ENSG00000142748
- ucsc gene id:
- uc001boa.4
- refseq accession:
- NM_003665
- hgnc_id:
- HGNC:3625
- approved reserved:
- 1999-12-10
FCN3（Ficolin-3）属于纤维胶凝蛋白（Ficolin）家族，该家族是一类模式识别分子，主要参与先天免疫系统中的补体激活途径。FCN3基因编码的蛋白是一种可溶性凝集素，主要由肝脏和肺上皮细胞分泌，存在于血液和支气管肺泡灌洗液中。FCN3通过识别病原体表面的乙酰化糖类（如N-乙酰葡糖胺和脂多糖），激活凝集素补体途径（Lectin Pathway），从而促进病原体的清除。FCN3在抗感染免疫中起关键作用，尤其对细菌、真菌和某些病毒有防御功能。FCN3基因突变可能导致蛋白功能缺陷，与反复感染、免疫缺陷及某些自身免疫性疾病（如系统性红斑狼疮）相关。FCN3表达降低会削弱补体激活能力，增加感染风险；而过表达可能与慢性炎症或自身免疫反应过度激活有关。Ficolin家族（包括FCN1、FCN2和FCN3）的共同特点是含有纤维蛋白原样结构域（FBG域）和胶原样区域，能够结合病原体并触发补体级联反应。FCN3因其在呼吸道和全身免疫中的独特分布，成为研究感染与免疫疾病的重要靶点。
Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]
Ficolins是一个基团，其包括胶原蛋白样结构域和纤维蛋白原样结构域的蛋白质。在人血清中，有两种类型的ficolins的，这两者有凝集素的活性。由该基因编码的蛋白质是一个不耐热在所有人类血清中发现β-2- macroglycoprotein并且是ficolin /调理素p35的凝集素家族的一个成员。的蛋白，其最初被鉴定基于其与患者系统性红斑狼疮的血清的反应性，已被证明为具有钙无关的凝集素的活性。该蛋白质可以激活与MASPS和SMAP协会补体途径，从而在宿主防御通过凝集素途径的激活辅助。选择性剪接发生在该位点和两个变体，各自编码一个不同的同种型，也已确定。 [由RefSeq的，2008年7月提供]
基因本体信息
FCN3基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
FCN3基因的本体（GO）信息：
| 名称 |
|---|
| Complement cascade |
| Creation of C4 and C2 activators |
| Ficolins bind to repetitive carbohydrate structures on the target cell surface |
| Immune System |
| Initial triggering of complement |
| Innate Immune System |
| Lectin pathway of complement activation |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY | 0.240271442 | 1 | 1 | BeFree_CLINVAR_ORPHANET |
| Immunologic Deficiency Syndromes | 0.12 | 1 | 0 | CTD_human |
| Crohn Disease | 0.00272435 | 1 | 0 | LHGDN |
| Respiratory Tract Infections | 0.002638474 | 1 | 0 | BeFree_GAD |
| Rheumatoid Arthritis | 0.002367032 | 1 | 0 | GAD |
| ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Recurrent respiratory tract infections | 0.000271442 | 1 | 0 | BeFree |
| Ventricular Septal Defects | 0.000271442 | 1 | 0 | BeFree |
| Infections specific to perinatal period | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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