CD14 Gene - Monocyte Differentiation Antigen CD14
CD14: A Key Pattern Recognition Receptor in Innate Immunity and Its Role in Disease
Gene Information Card
| Symbol | CD14 |
|---|---|
| Full Name | CD14 Molecule |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 929 ncbi.nlm.nih.gov/gene/929 |
| Ensembl ID | ENSG00000170458 |
| UniProt ID | P08571 |
| OMIM ID | 158120 |
| HGNC ID | 1628 |
| Aliases | CD14 antigen; monocyte differentiation antigen CD14; myeloid cell-specific leucine-rich glycoprotein |
Description
The CD14 gene encodes a glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein that serves as a co-receptor for bacterial lipopolysaccharide (LPS) and other pathogen-associated molecular patterns (PAMPs). It is primarily expressed on monocytes, macrophages, and neutrophils, and plays a central role in innate immune recognition and activation of pro-inflammatory signaling pathways. CD14 exists in two forms: membrane-bound (mCD14) and soluble (sCD14), the latter released into plasma and involved in LPS responses in cells lacking mCD14. CD14 is also implicated in the recognition of various microbial ligands, including peptidoglycan and lipoteichoic acid, and modulates inflammatory responses in infectious, autoimmune, and malignant diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sepsis | CD14 mediates LPS-induced inflammatory cytokine release; elevated sCD14 levels correlate with severity and mortality. | Multiple clinical studies (e.g., PMID: 12858218, 25425444) show sCD14 as a prognostic biomarker in sepsis. |
| Inflammatory Bowel Disease (IBD) | CD14+ macrophages accumulate in inflamed gut mucosa and drive TNF-alpha production; CD14 polymorphisms may influence susceptibility. | Evidence from GWAS and functional studies (e.g., PMID: 21841782, 26914223). |
| Atherosclerosis | CD14 is expressed on macrophages in atherosclerotic plaques; sCD14 levels are associated with cardiovascular risk. | Clinical cohort studies (e.g., PMID: 20595636, 24398357). |
| Rheumatoid Arthritis | CD14+ monocytes/macrophages contribute to synovial inflammation; sCD14 levels correlate with disease activity. | Studies in RA patients (e.g., PMID: 19035458, 23307876). |
| Cancer (various) | CD14+ tumor-associated macrophages (TAMs) promote tumor progression and immunosuppression; CD14 expression may influence prognosis. | Evidence from tumor microenvironment studies (e.g., PMID: 25605244, 28397828). |
| Alzheimer's Disease | CD14 is involved in amyloid-beta clearance and neuroinflammation; sCD14 levels are altered in CSF and plasma. | Research on neuroinflammation (e.g., PMID: 21625534, 26077956). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | High | High |
| Spleen | High | High |
| Lung | Medium | Medium |
| Liver | Low | Low |
| Blood | High | High |
| Small Intestine | Medium | Medium |
| Colon | Medium | Medium |
| Kidney | Low | Low |
| Brain | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Monocytes | High | Primary CD14+ cells |
| Macrophages | High | Differentiated from monocytes |
| Neutrophils | Medium | Lower expression than monocytes |
| Dendritic Cells | Medium | Myeloid DCs express CD14 |
| HUVEC (endothelial) | Low | Inducible by inflammatory stimuli |
| HeLa | Low | Epithelial cell line, low basal expression |
| THP-1 (monocytic leukemia) | High | Common model for monocyte/macrophage studies |
| U937 (histiocytic lymphoma) | High | Monocytic cell line |
| Jurkat (T-cell leukemia) | Low | T-cell line, minimal CD14 expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2569190 (C-159T) | SNP (promoter) | ~40-50% in various populations | Associated with altered CD14 expression and increased risk of sepsis, IBD, and cardiovascular disease. |
| rs2569191 (T-1359G) | SNP (promoter) | ~20-30% | May influence CD14 expression and disease susceptibility. |
| rs2569192 (A-1619G) | SNP (promoter) | ~15-25% | Potential impact on transcriptional regulation. |
| rs4986790 (Asp299Gly) | Missense (exon 4) | ~5-10% in Caucasians | Impairs LPS binding and signaling; associated with reduced inflammatory response and altered infection risk. |
| rs4986791 (Thr399Ile) | Missense (exon 4) | ~5-10% in Caucasians | Often co-segregates with Asp299Gly; affects LPS responsiveness. |
Mutation functional classification
Loss of Function (LOF)
The Asp299Gly (rs4986790) and Thr399Ile (rs4986791) variants are considered loss-of-function mutations as they impair CD14's ability to bind LPS and activate downstream signaling, leading to reduced pro-inflammatory cytokine production.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported for CD14. Some promoter SNPs (e.g., rs2569190) are associated with increased CD14 expression, but this is not a direct gain-of-function mutation.
Dominant Negative (DN)
No dominant-negative mutations have been described for CD14. The protein functions as a monomer in LPS recognition, and heterozygous loss-of-function variants may result in haploinsufficiency rather than dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004872 (receptor activity) | • GO:0005515 (protein binding) |
| • GO:0001530 (lipopolysaccharide binding) | • GO:0005886 (plasma membrane) |
| • GO:0009897 (external side of plasma membrane) | • GO:0006954 (inflammatory response) |
| • GO:0007165 (signal transduction) | • GO:0032496 (response to lipopolysaccharide) |
| • GO:0045087 (innate immune response) | • GO:0009617 (response to bacterium) |
Pathways
• Toll-like receptor signaling pathway (KEGG: hsa04620)
• NF-kappa B signaling pathway (KEGG: hsa04064)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• Phagosome (KEGG: hsa04145)
• Leukocyte transendothelial migration (KEGG: hsa04670)
• HIF-1 signaling pathway (KEGG: hsa04066)
Protein Summary
CD14 is a 356-amino-acid glycoprotein with a molecular weight of approximately 40 kDa (unglycosylated) and 53-55 kDa (glycosylated). It is anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. The protein consists of leucine-rich repeats (LRRs) that form a horseshoe-shaped structure, facilitating ligand binding. CD14 exists as a membrane-bound form (mCD14) on myeloid cells and a soluble form (sCD14) in plasma. It functions as a pattern recognition receptor (PRR) that binds LPS and other microbial ligands, presenting them to Toll-like receptor 4 (TLR4) and MD-2 to initiate innate immune signaling. CD14 also plays roles in the clearance of apoptotic cells and in the regulation of inflammatory responses. Its expression is regulated by various cytokines and transcription factors, including PU.1 and C/EBP.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD14 Knockout HEK293 Cell Line | EDJ-KQ552 | Human | 929 | Details Get a Quote |
| CD14 Knockout A-549 Cell Line | EDJ-KQ18924 | Human | 929 | Details Get a Quote |
| CD14 Knockout HeLa Cell Line | EDJ-KQ52822 | Human | 929 | Details Get a Quote |
| CD14 Knockout HCT 116 Cell Line | EDJ-KQ69788 | Human | 929 | Details Get a Quote |
| CD14 Knockout THP-1 Cell Line | EDJ-KQ78069 | Human | 929 | Details Get a Quote |
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