Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 10288
Gene Summary                KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol LILRB2   Gene   UCSC   Ensembl
Aliases CD85D, ILT-4, ILT4, LIR-2, LIR2, MIR-10, MIR10
Gene name leukocyte immunoglobulin like receptor B2
Alternate names leukocyte immunoglobulin-like receptor subfamily B member 2, CD85 antigen-like family member D, Ig-like transcript 4, leucocyte Ig-like receptor B2, leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2, monocyte/macrophage immunoglobulin-like receptor 10, myeloid inhibitory receptor 10,
Gene location 19q13.42 (134779412: 134970728)     Exons: 18     NC_000007.14
Gene summary(Entrez) 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. 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]
OMIM 604815

KEGG pathways

hsa04380  Osteoclast differentiation

Diseases

Associated diseases References
Endometriosis PubMed29234882

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
29234882 Endometrio
sis
HLA-G rs1233334, LILRB1 rs41308748:AA and LILRB2 rs383369
590(276 patient
s with endometr
iosis, 314 heal
thy fertile wom
en)
HLA-G
KIR2DL4
 LILRB1 and LILRB2
Show abstract