LILRB5
Leukocyte Immunoglobulin Like Receptor B5
Gene Information Card
| Symbol | LILRB5 |
|---|---|
| Full Name | Leukocyte Immunoglobulin Like Receptor B5 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 11005 ncbi.nlm.nih.gov/gene/11005 |
| Ensembl ID | ENSG00000105675 |
| UniProt ID | O75023 |
| OMIM ID | 604815 |
| HGNC ID | 6611 |
| Aliases | LIR-8, CD85c, ILT5, LILRB5 |
Description
LILRB5 encodes a member of the leukocyte immunoglobulin-like receptor (LIR) family, which are transmembrane glycoproteins expressed on immune cells. This receptor contains cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs) and transduces inhibitory signals upon ligand binding, modulating immune responses. LILRB5 is primarily expressed on natural killer cells, monocytes, and dendritic cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid arthritis | LILRB5 polymorphisms may alter inhibitory signaling, contributing to autoimmune inflammation | PMID: 25605246 |
| HIV-1 infection | LILRB5 variants associated with viral load control | PMID: 24131138 |
| Cancer (various) | LILRB5 expression on tumor-infiltrating immune cells may suppress anti-tumor immunity | PMID: 29263200 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.3 | Medium |
| Lung | 8.7 | Low |
| Bone marrow | 15.1 | Medium |
| Whole blood | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 18.5 | Natural killer cell line |
| THP-1 | 22.1 | Monocytic cell line |
| Dendritic cells (immature) | 14.8 | Primary cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12975366 | SNP | 0.15 (global) | Missense (Ile→Val) in extracellular domain |
| rs3760860 | SNP | 0.22 (global) | Intronic, associated with HIV-1 control |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • immune response | • cell surface receptor signaling pathway |
| • negative regulation of immune response | • immunoglobulin-like domain |
Pathways
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
• Natural killer cell mediated cytotoxicity
Protein Summary
LILRB5 is a 652-amino acid transmembrane protein with four extracellular immunoglobulin-like domains and three cytoplasmic ITIM motifs. It binds to classical and non-classical MHC class I molecules, delivering inhibitory signals that dampen NK cell and myeloid cell activation. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LILRB5 Knockout HEK293 Cell Line | EDJ-KQ7235 | Human | 10990 | Details Get a Quote |
| LILRB5 Knockout HeLa Cell Line | EDJ-KQ55538 | Human | 10990 | Details Get a Quote |
| LILRB5 Knockout A-549 Cell Line | EDJ-KQ64031 | Human | 10990 | Details Get a Quote |
| LILRB5 Knockout HCT 116 Cell Line | EDJ-KQ72482 | Human | 10990 | Details Get a Quote |
