LILRB4 (leukocyte immunoglobulin like receptor B4)
- symbol:
- LILRB4
- locus group:
- protein-coding gene
- location:
- 19q13.42
- gene_family:
- CD molecules|Immunoglobulin-like domain containing|Leukocyte immunoglobulin-like receptors
- alias symbol:
- LIR-5|ILT3|HM18|LIR5|CD85k
- alias name:
- leucocyte Ig-like receptor B4
- entrez id:
- 11006
- ensembl gene id:
- ENSG00000186818
- ucsc gene id:
- uc002qgp.5
- refseq accession:
- NM_001278426
- hgnc_id:
- HGNC:6608
- approved reserved:
- 2000-01-11
This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
此基因是白细胞免疫球蛋白样受体（LIR）家族，其在染色体区域19q13.4基因簇中发现的成员。所编码的蛋白质属于亚家族B级包含两个或四个细胞外免疫球蛋白结构域，跨膜结构域，并且两个到四个细胞质免疫受体基于酪氨酸的抑制基序（ITIMs）LIR受体。它结合于MHC I类分子上的抗原呈递细胞和转导，抑制一种免疫应答的刺激作用的负信号的受体在免疫细胞中表达。受体也可以在功能抗原捕获和演示。它被认为是控制炎症反应和细胞毒性，以帮助集中的免疫反应并限制自身反应性。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的，2008年7月提供]
基因本体信息
LILRB4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
LILRB4基因的本体（GO）信息：
| 名称 |
|---|
| 4380 Osteoclast differentiation [PATH:hsa04380] |
| 名称 |
|---|
| Adaptive Immune System |
| Immune System |
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
| Pancreatic Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
| Severe Combined Immunodeficiency | 0.000542884 | 2 | 0 | BeFree |
| Ulcerative Colitis | 0.000271442 | 1 | 0 | BeFree |
| Lupus Vulgaris | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus, Discoid | 0.000271442 | 1 | 0 | BeFree |
| Multiple Sclerosis | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
| Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
微信公众号
关注微信订阅号，实时查看信息，关注医学生物学动态。
版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2
