BPIFA2: BPI Fold Containing Family A Member 2
A secreted antimicrobial protein with roles in host defense and potential implications in respiratory and oral diseases.
Gene Information Card
| Symbol | BPIFA2 |
|---|---|
| Full Name | BPI Fold Containing Family A Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 140683 ncbi.nlm.nih.gov/gene/140683 |
| Ensembl ID | ENSG00000131080 |
| UniProt ID | Q8N4F0 |
| OMIM ID | 614754 |
| HGNC ID | 15758 |
| Aliases | SPLUNC2, C20orf70, LUNX, bA49G10.1 |
Description
BPIFA2 (BPI Fold Containing Family A Member 2) encodes a secreted protein belonging to the BPI fold-containing family, characterized by a bactericidal/permeability-increasing protein (BPI) domain. The protein is predominantly expressed in the upper respiratory tract, salivary glands, and oral mucosa, where it functions in innate immune defense by binding to and neutralizing bacterial lipopolysaccharides (LPS). BPIFA2 is also known as SPLUNC2 (Short PLUNC2) and is involved in maintaining mucosal homeostasis. Altered expression has been linked to chronic rhinosinusitis, oral squamous cell carcinoma, and other inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Rhinosinusitis | Reduced BPIFA2 expression may impair mucosal antimicrobial defense, contributing to chronic inflammation. | PubMed: 23583625 |
| Oral Squamous Cell Carcinoma | Downregulation of BPIFA2 in tumor tissues suggests a potential tumor suppressor role. | PubMed: 22198284 |
| Nasopharyngeal Carcinoma | Loss of BPIFA2 expression correlates with poor prognosis and metastasis. | PubMed: 19029981 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 82.5 | High |
| Trachea | 45.3 | Medium |
| Lung | 12.1 | Low |
| Nasal epithelium | 60.0 | Medium |
| Tonsil | 30.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 0.5 | Very low expression |
| HSC-3 (oral squamous carcinoma) | 2.1 | Low expression |
| HOK (oral keratinocytes) | 15.3 | Moderate expression |
| Calu-3 (lung adenocarcinoma) | 1.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.124C>T (p.Arg42Cys) | Missense | <0.01% | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Innate immune system (Reactome: R-HSA-168249)
• Defensins (Reactome: R-HSA-1462054)
Protein Summary
BPIFA2 is a 249-amino-acid secreted protein (UniProt Q8N4F0) containing a single BPI/LBP/CETP domain. It is produced by serous cells of the salivary glands and submucosal glands of the respiratory tract. The protein binds lipopolysaccharides (LPS) from Gram-negative bacteria, reducing endotoxin activity and modulating the host inflammatory response. BPIFA2 also exhibits surfactant-like properties and may contribute to mucosal barrier function. Its expression is frequently lost in oral and nasopharyngeal carcinomas, suggesting a role in tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPIFA2 Knockout HEK293 Cell Line | EDJ-KQ9796 | Human | 140683 | Details Get a Quote |
| BPIFA2 Knockout HeLa Cell Line | EDJ-KQ58444 | Human | 140683 | Details Get a Quote |
| BPIFA2 Knockout A-549 Cell Line | EDJ-KQ66930 | Human | 140683 | Details Get a Quote |
| BPIFA2 Knockout HCT 116 Cell Line | EDJ-KQ75334 | Human | 140683 | Details Get a Quote |
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