LILRB3
Description
The LILRB3 (leukocyte immunoglobulin like receptor B3) is a protein-coding gene located on chromosome 19.
LILRB3 is a protein encoded by the LILRB3 gene, part of the leukocyte immunoglobulin-like receptor (LIR) family found on chromosome 19q13.4. It belongs to the subfamily B class of LIR receptors, characterized by two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic ITIMs. Expressed on immune cells, LILRB3 is believed to be a myeloid checkpoint that controls inflammatory responses and cytotoxicity, helping focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been identified for this gene.
LILRB3 acts as a receptor for class I MHC antigens. It becomes activated when bound to other immune receptors like FCGR2B and the B-cell receptor. This activation triggers a downregulation of antigen-induced B-cell activation by recruiting phosphatases to its ITIMs.
LILRB3 is also known as CD85A, HL9, ILT-5, ILT5, LILRA6, LIR-3, LIR3, PIR-B, PIRB.
Associated Diseases
- common variable immunodeficiency
- isolated agammaglobulinemia
- classic Hodgkin lymphoma
- severe combined immunodeficiency due to CARD11 deficiency
- severe combined immunodeficiency due to CTPS1 deficiency
- combined immunodeficiency with skin granulomas
- reticular dysgenesis
- immunodeficiency 18
- BENTA disease
- hyper-IgM syndrome type 3
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- immunodeficiency, common variable, 14
