PTX3 (Pentraxin 3)
A key humoral innate immunity component and inflammatory marker
Gene Information Card
| Symbol | PTX3 |
|---|---|
| Full Name | Pentraxin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.32 |
| NCBI Gene ID | 5806 ncbi.nlm.nih.gov/gene/5806 |
| Ensembl ID | ENSG00000163661 |
| UniProt ID | P26022 |
| OMIM ID | 602492 |
| HGNC ID | 9692 |
| Aliases | TSG-14, TNFAIP5 |
Description
PTX3 (pentraxin 3) is a member of the pentraxin superfamily, characterized by a cyclic multimeric structure. It is a soluble pattern recognition receptor produced by various cell types, including endothelial cells, macrophages, and dendritic cells, in response to primary inflammatory signals such as IL-1β, TNF-α, and microbial components. PTX3 plays a critical role in innate immunity by recognizing pathogens, activating complement, and facilitating pathogen clearance. It also participates in tissue remodeling, angiogenesis, and regulation of inflammation. Elevated PTX3 levels are associated with infectious, cardiovascular, and autoimmune diseases, and it is used as a biomarker for disease severity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | PTX3 is produced by vascular cells in response to inflammatory stimuli; elevated levels correlate with atherosclerosis and heart failure severity. | ClinVar, OMIM |
| Infectious diseases (e.g., sepsis, aspergillosis) | PTX3 binds microbial moieties, opsonizes pathogens, and activates complement; deficiency increases susceptibility. | NCBI Gene, OMIM |
| Systemic lupus erythematosus | PTX3 modulates immune complex clearance and inflammation; altered levels observed in patients. | OMIM |
| Cancer (e.g., lung, breast, colorectal) | PTX3 influences tumor microenvironment, angiogenesis, and immune evasion; expression varies by tumor type. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 0.4 | Low |
| Lung | 1.2 | Medium |
| Liver | 0.3 | Low |
| Spleen | 2.5 | Medium |
| Adipose tissue | 0.8 | Low |
| Blood (leukocytes) | 3.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Endothelial cells (HUVEC) | 4.5 | Induced by IL-1β and TNF-α |
| Macrophages (THP-1 differentiated) | 6.2 | Induced by LPS |
| Dendritic cells (monocyte-derived) | 5.8 | Induced by microbial stimuli |
| Fibroblasts (MRC-5) | 1.0 | Constitutive low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2305619 (intronic) | SNP | Common (MAF ~0.3) | Associated with altered PTX3 levels and infection risk |
| rs3816527 (exonic, p.Asp48Glu) | Missense | Rare (MAF <0.01) | Potential impact on protein function; limited data |
| rs1840680 (promoter) | SNP | Common (MAF ~0.4) | Linked to PTX3 expression and cardiovascular outcomes |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in PTX3; complete deficiency is rare and associated with increased susceptibility to infections (e.g., aspergillosis).
Gain of Function (GOF)
No confirmed gain-of-function mutations; elevated PTX3 expression is typically secondary to inflammation rather than genetic alteration.
Dominant Negative (DN)
No dominant-negative mutations described for PTX3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Complement and coagulation cascades (KEGG hsa04610)
• Toll-like receptor signaling pathway (KEGG hsa04620)
• IL-17 signaling pathway (KEGG hsa04657)
Protein Summary
Pentraxin 3 (PTX3) is a 381-amino-acid secreted glycoprotein with a C-terminal pentraxin domain and a unique N-terminal domain. It forms multimeric complexes (octamers and higher-order oligomers) that recognize pathogens, apoptotic cells, and extracellular matrix components. PTX3 activates the classical complement pathway via C1q binding and modulates inflammation by interacting with Fcγ receptors and selectins. Its expression is rapidly induced by inflammatory cytokines and microbial products, making it a sensitive biomarker for acute and chronic inflammatory conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTX3 Knockout HEK293 Cell Line | EDJ-KQ5607 | Human | 5806 | Details Get a Quote |
| PTX3 Knockout HeLa Cell Line | EDJ-KQ54279 | Human | 5806 | Details Get a Quote |
| PTX3 Knockout A-549 Cell Line | EDJ-KQ62772 | Human | 5806 | Details Get a Quote |
| PTX3 Knockout HCT 116 Cell Line | EDJ-KQ71239 | Human | 5806 | Details Get a Quote |
