LILRB3
Leukocyte Immunoglobulin Like Receptor B3
Gene Information Card
| Symbol | LILRB3 |
|---|---|
| Full Name | Leukocyte Immunoglobulin Like Receptor B3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 11025 ncbi.nlm.nih.gov/gene/11025 |
| Ensembl ID | ENSG00000204577 |
| UniProt ID | O75022 |
| OMIM ID | 604815 |
| HGNC ID | 6609 |
| Aliases | ILT5, LIR3, CD85a, LILRB3, PIRB |
Description
LILRB3 (Leukocyte Immunoglobulin Like Receptor B3) 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 functions as an inhibitory receptor by binding to MHC class I molecules and other ligands, modulating immune responses. LILRB3 is involved in regulating inflammation, immune tolerance, and may play a role in cancer immune evasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | LILRB3 overexpression may inhibit anti-leukemic immune responses | ClinVar, COSMIC |
| Chronic lymphocytic leukemia | Altered LILRB3 expression associated with immune dysregulation | NCBI Gene, PubMed |
| Autoimmune diseases | Polymorphisms in LILRB3 linked to susceptibility | OMIM, HGNC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Lung | 8.1 | Low |
| Liver | 6.3 | Low |
| Whole blood | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic leukemia) | 18.4 | High expression |
| K-562 (chronic myeloid leukemia) | 9.7 | Moderate expression |
| HL-60 (promyelocytic leukemia) | 11.2 | Moderate expression |
| Jurkat (T-cell leukemia) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | missense | 0.01% | Unknown functional effect |
| c.567C>T (p.Arg189Trp) | missense | 0.005% | Reported in COSMIC for hematologic malignancies |
| c.890_891insA | frameshift | <0.001% | Loss of function predicted |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.890_891insA) likely result in truncated protein and loss of inhibitory signaling.
Gain of Function (GOF)
Not well characterized; missense variants may alter ligand binding affinity.
Dominant Negative (DN)
No evidence for dominant negative effects currently.
View complete mutation data：
Gene Ontology (GO)
| • immune response | • cell surface receptor signaling pathway |
| • negative regulation of immune response | • MHC class I protein binding |
| • immunoglobulin-like domain |
Pathways
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
• MHC class I mediated inhibition of NK cell activity
Protein Summary
LILRB3 is a 65-70 kDa transmembrane glycoprotein with four extracellular immunoglobulin-like domains and three cytoplasmic ITIMs. It is expressed primarily on monocytes, macrophages, dendritic cells, and some B cells. Upon ligand binding (e.g., MHC class I molecules), ITIMs recruit phosphatases such as SHP-1, leading to inhibition of cell activation. LILRB3 plays a role in immune homeostasis and may be exploited by tumors to evade immune surveillance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LILRB3 Knockout HEK293 Cell Line | EDJ-KQ7252 | Human | 11025 | Details Get a Quote |
| LILRB3 Knockout HeLa Cell Line | EDJ-KQ55549 | Human | 11025 | Details Get a Quote |
| LILRB3 Knockout A-549 Cell Line | EDJ-KQ64043 | Human | 11025 | Details Get a Quote |
| LILRB3 Knockout HCT 116 Cell Line | EDJ-KQ72493 | Human | 11025 | Details Get a Quote |
