LILRA4

Leukocyte immunoglobulin-like receptor A4, a plasmacytoid dendritic cell-specific receptor involved in type I interferon regulation

Gene Information Card

Symbol LILRA4
Full Name Leukocyte immunoglobulin like receptor A4
Gene Type protein-coding
Chromosomal Location 19q13.42
NCBI Gene ID 23547 ncbi.nlm.nih.gov/gene/23547
Ensembl ID ENSG00000197110
UniProt ID P59901
OMIM ID 607517
HGNC ID 14903
Aliases CD85g, ILT7, LIR-5

Description

LILRA4 (Leukocyte immunoglobulin like receptor A4) is a member of the leukocyte immunoglobulin-like receptor (LIR) family. It is selectively expressed on plasmacytoid dendritic cells (pDCs) and functions as an inhibitory receptor. LILRA4 binds to its ligand, bone marrow stromal cell antigen 2 (BST2), and negatively regulates the production of type I interferons (e.g., IFN-α) and pro-inflammatory cytokines. This receptor plays a critical role in modulating innate immune responses and is implicated in autoimmune diseases and cancer.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Systemic lupus erythematosus (SLE) LILRA4 signaling via BST2 suppresses IFN-α production; dysregulation may contribute to SLE pathogenesis ClinVar, OMIM
Psoriasis Altered LILRA4 expression on pDCs may influence IFN-α-driven inflammation NCBI Gene, PubMed
HIV infection BST2 (tetherin) interaction with LILRA4 modulates pDC IFN responses during viral infection UniProt, PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Lymph node 0.0 Not detected
Spleen 0.0 Not detected
Bone marrow 0.0 Not detected
Whole blood 0.0 Not detected
Plasmacytoid dendritic cells (pDCs) N/A High (cell-type specific)
Cell Line Expression
Cell Line nTPM Notes
pDC (primary) N/A High expression; specific to this cell type
Monocyte-derived DCs N/A Low or absent
HEK293 N/A Not expressed endogenously
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
rs11465384 SNP (intronic) 0.05 (global) Associated with altered LILRA4 expression in pDCs; potential link to autoimmune risk
rs11150606 SNP (intronic) 0.10 (global) Reported in GWAS for SLE susceptibility
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in major databases.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

Not described.

Pathways

• Immune System (Reactome: R-HSA-168256)
• Interferon Signaling (Reactome: R-HSA-913531)
• Innate Immune System (Reactome: R-HSA-168249)

Protein Summary

LILRA4 (CD85g/ILT7) is a 499-amino acid transmembrane glycoprotein with four extracellular immunoglobulin-like domains and a long cytoplasmic tail containing immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Upon binding BST2, LILRA4 recruits phosphatases such as SHP-1 and SHP-2, leading to inhibition of FcεRI-mediated signaling and suppression of IFN-α production in pDCs. It is a key negative regulator of pDC function and a potential therapeutic target for autoimmune diseases and cancer immunotherapy.

Related Products

Product name Cat.No. Species Gene ID
LILRA4 Knockout HEK293 Cell Line EDJ-KQ8057 Human 23547 Details Get a Quote
LILRA4 Knockout HeLa Cell Line EDJ-KQ55766 Human 23547 Details Get a Quote
LILRA4 Knockout A-549 Cell Line EDJ-KQ64262 Human 23547 Details Get a Quote
LILRA4 Knockout HCT 116 Cell Line EDJ-KQ72708 Human 23547 Details Get a Quote
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