CLEC7A (Dectin-1): C-Type Lectin Domain Family 7 Member A
A key pattern recognition receptor in antifungal immunity and beyond
Gene Information Card
| Symbol | CLEC7A |
|---|---|
| Full Name | C-type lectin domain family 7 member A |
| Gene Type | protein coding |
| Chromosomal Location | 12p13.2 |
| NCBI Gene ID | 64581 ncbi.nlm.nih.gov/gene/64581 |
| Ensembl ID | ENSG00000172243 |
| UniProt ID | Q9BXN2 |
| OMIM ID | 606264 |
| HGNC ID | 14558 |
| Aliases | DECTIN1, CLECSF12, BGR, CANDF4 |
Description
CLEC7A encodes Dectin-1, a type II transmembrane C-type lectin receptor primarily expressed on myeloid cells. It recognizes beta-1,3-glucan, a component of fungal cell walls, and triggers innate immune responses including phagocytosis, production of reactive oxygen species, and induction of pro-inflammatory cytokines. Dectin-1 also collaborates with Toll-like receptors to shape adaptive immunity. Genetic variants in CLEC7A have been associated with susceptibility to fungal infections and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Candidiasis, familial, 4 (CANDF4) | Loss-of-function variants (e.g., Y238X) impair beta-glucan recognition, leading to reduced cytokine production and increased susceptibility to chronic mucocutaneous candidiasis. | OMIM: 606264; ClinVar |
| Invasive aspergillosis | Polymorphisms such as Y238X are associated with increased risk of invasive aspergillosis in immunocompromised patients, likely due to impaired fungal recognition. | ClinVar; PMID: 19644044 |
| Inflammatory bowel disease (IBD) | Dectin-1 deficiency may alter gut microbiota composition and mucosal immune responses, contributing to IBD susceptibility in some cohorts. | PMID: 21102463 |
| Rheumatoid arthritis | CLEC7A variants may modulate inflammatory responses, with some studies suggesting an association with RA severity. | PMID: 20855865 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | 12.4 | Medium |
| Spleen | 8.9 | Low |
| Lung | 5.2 | Low |
| Bone Marrow | 4.8 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Monocytes | 18.5 | High expression |
| Macrophages | 15.2 | High expression |
| Dendritic cells | 12.3 | Medium expression |
| Neutrophils | 8.7 | Low expression |
| B lymphocytes | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Y238X (rs16910526) | Nonsense | ~5-10% in European populations | Truncated protein lacking intracellular signaling domain; loss of function |
| I223S (rs16910631) | Missense | Rare | Impaired beta-glucan binding and signaling |
| S166G (rs16910630) | Missense | Rare | Reduced surface expression and function |
| A229T (rs16910629) | Missense | Rare | Altered ligand recognition |
Mutation functional classification
Loss of Function (LOF)
Y238X and other truncating variants lead to loss of Dectin-1 signaling, impairing antifungal immunity.
Gain of Function (GOF)
No clear gain-of-function variants have been reported; most variants are loss-of-function.
Dominant Negative (DN)
Y238X may exert a dominant-negative effect by forming non-functional heterodimers with wild-type receptors.
View complete mutation data：
Gene Ontology (GO)
| • beta-glucan binding | • pattern recognition receptor activity |
| • signaling receptor activity | • innate immune response |
| • fungal defense response | • cell surface receptor signaling pathway |
| • phagocytosis | • positive regulation of cytokine production |
Pathways
• Dectin-1 signaling pathway
• Innate Immune System
• Fungal recognition and response
• NF-kappaB signaling
• Cytokine signaling in immune system
Protein Summary
Dectin-1 is a 247-amino acid type II membrane receptor with an extracellular C-type lectin domain that binds beta-1,3-glucan. It contains an immunoreceptor tyrosine-based activation motif (ITAM)-like motif in its cytoplasmic tail, which recruits Syk kinase upon ligand binding, leading to activation of NF-kB and production of inflammatory cytokines. Dectin-1 is crucial for antifungal defense and also modulates adaptive immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLEC7A Knockout HEK293 Cell Line | EDJ-KQ12940 | Human | 64581 | Details Get a Quote |
| CLEC7A Knockout A-549 Cell Line | EDJ-KQ18113 | Human | 64581 | Details Get a Quote |
| CLEC7A Knockout BEAS-2B Cell Line | EDJ-KZ161 | Human | 64581 | Details Get a Quote |
| CLEC7A Knockout HeLa Cell Line | EDJ-KQ57064 | Human | 64581 | Details Get a Quote |
| CLEC7A Knockout HCT 116 Cell Line | EDJ-KQ74006 | Human | 64581 | Details Get a Quote |
