CLEC4D
C-Type Lectin Domain Family 4 Member D
Gene Information Card
| Symbol | CLEC4D |
|---|---|
| Full Name | C-Type Lectin Domain Family 4 Member D |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 338339 ncbi.nlm.nih.gov/gene/338339 |
| Ensembl ID | ENSG00000166535 |
| UniProt ID | Q8WXI8 |
| OMIM ID | 614677 |
| HGNC ID | 14555 |
| Aliases | MCL, dectin-3, CLECSF8, DECTIN3 |
Description
CLEC4D encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded protein is a pattern recognition receptor involved in innate immune responses, recognizing carbohydrate ligands on pathogens and mediating antifungal immunity. It forms heterodimers with CLEC4E (Mincle) and signals through the Fc receptor gamma chain to activate NF-κB and cytokine production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Candidiasis, chronic mucocutaneous | Loss-of-function variants impair antifungal immunity, reducing cytokine response to Candida | PMID: 23954160 |
| Tuberculosis | CLEC4D recognizes mycobacterial trehalose dimycolate; polymorphisms may alter susceptibility | PMID: 25344737 |
| Rheumatoid arthritis | CLEC4D expression upregulated in synovial tissue; may contribute to inflammatory cytokine production | PMID: 26903333 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.3 | Medium |
| Lung | 8.7 | Low |
| Spleen | 15.1 | Medium |
| Peripheral blood mononuclear cells | 22.5 | High |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 18.9 | High expression |
| U937 (histiocytic lymphoma) | 14.2 | Medium expression |
| HL-60 (promyeloblast) | 9.8 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.520C>T (p.Arg174Trp) | Missense | 0.01% (gnomAD) | Reduced ligand binding and cytokine induction |
| c.286G>A (p.Gly96Ser) | Missense | 0.005% (gnomAD) | Impaired heterodimerization with CLEC4E |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
p.Arg174Trp and p.Met1Val reduce or abolish receptor function, impairing antifungal responses.
Gain of Function (GOF)
No gain-of-function mutations reported in CLEC4D.
Dominant Negative (DN)
p.Gly96Ser may act dominant-negative by disrupting CLEC4E heterodimer signaling.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Fc gamma receptor signaling pathway (R-HSA-2029481)
• CLEC7A (Dectin-1) signaling (R-HSA-5607764)
• Innate Immune System (R-HSA-168249)
Protein Summary
CLEC4D (also known as MCL or dectin-3) is a 215-amino acid transmembrane C-type lectin receptor. It contains a single carbohydrate recognition domain (CRD) and a short cytoplasmic tail lacking signaling motifs. CLEC4D associates with the Fc receptor gamma chain (FCER1G) via a charged residue in its transmembrane domain to mediate downstream signaling. It recognizes fungal β-glucans and mycobacterial glycolipids, and heterodimerizes with CLEC4E to enhance ligand recognition and signal transduction. The protein is predominantly expressed on myeloid cells and plays a critical role in antifungal immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLEC4D Knockout HEK293 Cell Line | EDJ-KQ12937 | Human | 338339 | Details Get a Quote |
| CLEC4D Knockout HeLa Cell Line | EDJ-KQ59608 | Human | 338339 | Details Get a Quote |
| CLEC4D Knockout A-549 Cell Line | EDJ-KQ68073 | Human | 338339 | Details Get a Quote |
| CLEC4D Knockout HCT 116 Cell Line | EDJ-KQ76450 | Human | 338339 | Details Get a Quote |
