CLEC4A
C-type lectin domain family 4 member A: an immune regulatory receptor
Gene Information Card
| Symbol | CLEC4A |
|---|---|
| Full Name | C-type lectin domain family 4 member A |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 50856 ncbi.nlm.nih.gov/gene/50856 |
| Ensembl ID | ENSG00000111716 |
| UniProt ID | Q9UMR7 |
| OMIM ID | 606677 |
| HGNC ID | 13255 |
| Aliases | DCIR, CLECSF6, HDCGC13P, DDB27 |
Description
CLEC4A encodes a type II transmembrane C-type lectin receptor primarily expressed on dendritic cells, monocytes, macrophages, and neutrophils. It functions as an inhibitory receptor by recruiting phosphatases via its immunoreceptor tyrosine-based inhibitory motif (ITIM), modulating immune responses and preventing excessive inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid arthritis | CLEC4A polymorphisms alter receptor expression and signaling, affecting dendritic cell function and promoting autoimmunity. | OMIM 606677; PMID 20453840 |
| Systemic lupus erythematosus | Reduced CLEC4A expression on plasmacytoid dendritic cells leads to increased type I interferon production. | PMID 22383576 |
| HIV-1 infection | CLEC4A acts as an attachment factor for HIV-1 on dendritic cells, facilitating viral capture and transmission. | PMID 18417574 |
| Cancer (various) | CLEC4A expression on tumor-infiltrating myeloid cells may suppress anti-tumor immunity. | COSMIC; PMID 25636840 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lung | 8.3 | Low |
| Whole blood | 6.1 | Low |
| Bone marrow | 5.4 | Low |
| Lymph node | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic) | 15.2 | High expression |
| U937 (histiocytic lymphoma) | 12.8 | High expression |
| HL-60 (promyelocytic) | 9.5 | Medium expression |
| K-562 (erythroleukemia) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1133104 (p.Arg221Gln) | missense | 0.08 (global) | Alters ligand binding; associated with rheumatoid arthritis |
| rs10840759 (intronic) | intron variant | 0.15 (global) | Associated with altered CLEC4A expression in dendritic cells |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • carbohydrate binding | • receptor activity |
| • immune response | • cell adhesion |
| • negative regulation of cytokine production | • dendritic cell differentiation |
Pathways
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome: R-HSA-198933)
• C-type lectin receptors (CLRs) (KEGG: hsa04625)
Protein Summary
CLEC4A (DCIR) is a 237-amino-acid type II transmembrane protein with an extracellular C-type lectin domain and a cytoplasmic ITIM motif. It recognizes carbohydrate ligands on pathogens and self-glycoproteins, transducing inhibitory signals that dampen dendritic cell and monocyte activation. The protein exists as a homodimer on the cell surface.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLEC4A Knockout HEK293 Cell Line | EDJ-KQ10835 | Human | 50856 | Details Get a Quote |
| CLEC4A Knockout HCT 116 Cell Line | EDJ-KQ38487 | Human | 50856 | Details Get a Quote |
| CLEC4A Knockout THP-1 Cell Line | EDJ-KZ16 | Human | 50856 | Details Get a Quote |
| CLEC4A Knockout HeLa Cell Line | EDJ-KQ56200 | Human | 50856 | Details Get a Quote |
| CLEC4A Knockout A-549 Cell Line | EDJ-KQ64690 | Human | 50856 | Details Get a Quote |
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