BPIFB3 Gene
BPI Fold Containing Family B Member 3
Gene Information Card
| Symbol | BPIFB3 |
|---|---|
| Full Name | BPI Fold Containing Family B Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 152007 ncbi.nlm.nih.gov/gene/152007 |
| Ensembl ID | ENSG00000125999 |
| UniProt ID | Q8NFQ6 |
| OMIM ID | 614768 |
| HGNC ID | 16195 |
| Aliases | BPIL3, LPLUNC3, C20orf185 |
Description
BPIFB3 (BPI Fold Containing Family B Member 3) is a protein-coding gene located on chromosome 20q11.21. It belongs to the BPI fold-containing family, which includes proteins involved in innate immunity and host defense. The gene encodes a protein with a bactericidal/permeability-increasing protein (BPI) fold domain, suggesting a role in antimicrobial responses. BPIFB3 is expressed in various tissues, particularly in the respiratory tract and oral cavity, and has been implicated in inflammatory and neoplastic processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nasopharyngeal carcinoma | Potential tumor suppressor; downregulation may contribute to carcinogenesis | COSMIC, literature |
| Oral squamous cell carcinoma | Altered expression linked to tumor progression | COSMIC, literature |
| Chronic obstructive pulmonary disease (COPD) | Possible role in airway inflammation and host defense | Literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Salivary gland | 10.8 | Medium |
| Trachea | 9.2 | Medium |
| Tonsil | 7.6 | Low |
| Esophagus | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 8.1 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 2.3 | Low expression |
| HeLa (cervical carcinoma) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.331C>T (p.Arg111Trp) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • innate immune response | • defense response to bacterium |
| • extracellular region | • BPI fold domain |
Pathways
• Innate immune system
• Antimicrobial peptides
Protein Summary
The BPIFB3 protein contains a BPI fold domain characteristic of lipid-binding and antimicrobial proteins. It is secreted or associated with extracellular regions, suggesting a role in mucosal immunity. The protein is expressed in epithelial tissues and may function in host defense against microbial pathogens. Structural studies indicate similarity to other BPI family members, but specific ligands and mechanisms remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPIFB3 Knockout HEK293 Cell Line | EDJ-KQ12561 | Human | 359710 | Details Get a Quote |
| BPIFB3 Knockout HeLa Cell Line | EDJ-KQ59882 | Human | 359710 | Details Get a Quote |
| BPIFB3 Knockout A-549 Cell Line | EDJ-KQ68345 | Human | 359710 | Details Get a Quote |
| BPIFB3 Knockout HCT 116 Cell Line | EDJ-KQ76721 | Human | 359710 | Details Get a Quote |
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