SIGLEC8
Sialic acid-binding Ig-like lectin 8
Gene Information Card
| Symbol | SIGLEC8 |
|---|---|
| Full Name | Sialic acid binding Ig like lectin 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 27181 ncbi.nlm.nih.gov/gene/27181 |
| Ensembl ID | ENSG00000105366 |
| UniProt ID | Q9NYZ4 |
| OMIM ID | 605639 |
| HGNC ID | 10876 |
| Aliases | CD329, SIGLEC-8, SAF-2 |
Description
SIGLEC8 (sialic acid-binding Ig-like lectin 8) is a transmembrane receptor preferentially expressed on eosinophils, basophils, and mast cells. It binds sialic acid-containing ligands and mediates inhibitory signaling through immunoreceptor tyrosine-based inhibitory motifs (ITIMs). SIGLEC8 plays a critical role in regulating eosinophil survival, promoting apoptosis, and modulating allergic inflammatory responses. It is a key target for therapeutic intervention in eosinophilic disorders such as asthma and eosinophilic esophagitis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | SIGLEC8 engagement induces eosinophil apoptosis, reducing airway inflammation; loss of function may exacerbate disease | ClinVar, OMIM |
| Eosinophilic esophagitis | Reduced SIGLEC8 expression or function may impair eosinophil clearance, contributing to tissue eosinophilia | NCBI Gene, PubMed |
| Allergic rhinitis | SIGLEC8-mediated apoptosis of eosinophils modulates nasal mucosal inflammation | OMIM |
| Hypereosinophilic syndrome | Dysregulated SIGLEC8 signaling may contribute to persistent eosinophilia | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 0.0 | Not detected |
| Whole blood | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Eosinophils | High (RNA-seq) | Primary cells; high SIGLEC8 expression |
| Mast cells | Moderate | Primary cells; lower than eosinophils |
| Basophils | Low | Primary cells; detectable |
| HL-60 | 0.0 | Cell line; no expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs364418 | SNP (intronic) | 0.15 (global) | Associated with altered eosinophil counts in asthma |
| rs16968546 | SNP (intronic) | 0.05 (European) | Potential modifier of SIGLEC8 expression |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Immune System (Reactome: R-HSA-168256)
• Signaling by Sialic Acid-Binding Receptors (Reactome: R-HSA-5621481)
Protein Summary
SIGLEC8 (CD329) is a 431-amino acid type I transmembrane protein belonging to the sialic acid-binding immunoglobulin-like lectin (Siglec) family. It contains three extracellular Ig-like domains (one V-set and two C2-set) and a cytoplasmic tail with two ITIM motifs. The protein is heavily glycosylated and preferentially binds α2,3- and α2,6-linked sialic acids. Upon ligand engagement, SIGLEC8 recruits phosphatases such as SHP-1 and SHP-2, leading to inhibition of cellular activation and induction of apoptosis in eosinophils. Its expression is restricted to eosinophils, basophils, and mast cells, making it a selective target for treating eosinophilic inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SIGLEC8 Knockout HEK293 Cell Line | EDJ-KQ8711 | Human | 27181 | Details Get a Quote |
| SIGLEC8 Knockout HeLa Cell Line | EDJ-KQ56025 | Human | 27181 | Details Get a Quote |
| SIGLEC8 Knockout A-549 Cell Line | EDJ-KQ64511 | Human | 27181 | Details Get a Quote |
| SIGLEC8 Knockout HCT 116 Cell Line | EDJ-KQ72969 | Human | 27181 | Details Get a Quote |
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