BPIFB2 Gene - BPI Fold Containing Family B Member 2
Comprehensive genomic and functional analysis of BPIFB2, a member of the BPI fold-containing protein family involved in innate immunity and host defense.
Gene Information Card
| Symbol | BPIFB2 |
|---|---|
| Full Name | BPI fold containing family B member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 153571 ncbi.nlm.nih.gov/gene/153571 |
| Ensembl ID | ENSG00000196419 |
| UniProt ID | Q8N4F0 |
| OMIM ID | 614188 |
| HGNC ID | 16197 |
| Aliases | BPIL1, LPLUNC2, C20orf186 |
Description
BPIFB2 (BPI fold containing family B member 2) is a protein-coding gene located on chromosome 20q11.21. It encodes a member of the BPI fold-containing protein family, which is characterized by a bactericidal/permeability-increasing protein (BPI) domain. This family is involved in innate immune responses, particularly in mucosal surfaces, where they contribute to host defense against bacteria and other pathogens. BPIFB2 is also known as BPIL1, LPLUNC2, or C20orf186. The protein is predicted to be secreted and may play a role in the regulation of inflammation and microbial clearance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic obstructive pulmonary disease (COPD) | Altered expression of BPIFB2 may affect airway mucosal immunity, contributing to COPD pathogenesis. | NCBI Gene, PubMed |
| Asthma | BPIFB2 polymorphisms have been associated with asthma susceptibility in some populations. | ClinVar, PubMed |
| Cystic fibrosis | Dysregulation of BPIFB2 in airway epithelium may influence bacterial colonization in cystic fibrosis. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Trachea | 10.2 | Medium |
| Salivary gland | 8.9 | Low |
| Tonsil | 7.1 | Low |
| Nasopharynx | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.3 | Moderate expression |
| HBE (human bronchial epithelial) | 11.8 | Moderate expression |
| Calu-3 (lung adenocarcinoma) | 9.4 | Low expression |
| HEK293 (embryonic kidney) | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs112657409 | Missense | <0.01% | Substitution of arginine to histidine at position 123; functional impact unknown |
| rs148330283 | Missense | <0.01% | Substitution of glycine to serine at position 45; predicted benign |
| rs201430868 | Frameshift | <0.01% | Insertion causing premature stop codon; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., rs201430868) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for BPIFB2.
Dominant Negative (DN)
No dominant-negative mutations have been described for BPIFB2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pathway: Innate Immune System (Reactome: R-HSA-168249)
• Pathway: Antimicrobial peptides (Reactome: R-HSA-6803157)
Protein Summary
The BPIFB2 protein (UniProt Q8N4F0) is a secreted protein of approximately 50 kDa, containing a BPI domain that is characteristic of lipid-binding and antimicrobial proteins. It is expressed predominantly in mucosal tissues such as the lung, trachea, and salivary glands. The protein is thought to bind to bacterial lipopolysaccharides (LPS) and contribute to the neutralization of Gram-negative bacteria. Its exact molecular function remains under investigation, but it is considered part of the host's first line of defense at epithelial surfaces.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPIFB2 Knockout HEK293 Cell Line | EDJ-KQ8782 | Human | 80341 | Details Get a Quote |
| BPIFB2 Knockout HeLa Cell Line | EDJ-KQ57330 | Human | 80341 | Details Get a Quote |
| BPIFB2 Knockout A-549 Cell Line | EDJ-KQ65836 | Human | 80341 | Details Get a Quote |
| BPIFB2 Knockout HCT 116 Cell Line | EDJ-KQ74261 | Human | 80341 | Details Get a Quote |
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