BPIFC
BPI Fold Containing Family C Gene
Gene Information Card
| Symbol | BPIFC |
|---|---|
| Full Name | BPI Fold Containing Family C |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 440503 ncbi.nlm.nih.gov/gene/440503 |
| Ensembl ID | ENSG00000184937 |
| UniProt ID | Q8NFQ6 |
| OMIM ID | 617449 |
| HGNC ID | 28099 |
| Aliases | BPI-like 3, BPL3, LPLUNC3 |
Description
BPIFC (BPI Fold Containing Family C) is a protein-coding gene located on chromosome 22q13.1. It belongs to the BPI fold-containing family, which includes proteins involved in innate immunity and lipid binding. The encoded protein is predicted to function in host defense and may play a role in mucosal immunity. Expression is enriched in the respiratory tract and salivary glands.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic obstructive pulmonary disease (COPD) | Altered BPIFC expression may affect airway inflammation and host defense | Limited genetic association studies |
| Lung cancer | Potential dysregulation in tumor microenvironments | Expression profiling data from COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Salivary gland | 9.8 | Medium |
| Trachea | 8.2 | Medium |
| Nasopharynx | 7.1 | Low |
| Testis | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| HBE (bronchial epithelial) | 10.1 | Moderate expression |
| HEK293 (embryonic kidney) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • integral component of membrane (GO:0016021) |
| • lipid binding (GO:0008289) | • innate immune response (GO:0045087) |
Pathways
• Innate immune system (Reactome: R-HSA-168249)
• Defensins (Reactome: R-HSA-1461973)
Protein Summary
BPIFC encodes a 487-amino acid protein with a BPI/LBP/CETP domain. It is secreted or membrane-associated, involved in lipid binding and innate immune responses. The protein is expressed in mucosal tissues, particularly the respiratory tract, and may contribute to antimicrobial defense.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPIFC Knockout HEK293 Cell Line | EDJ-KQ11761 | Human | 254240 | Details Get a Quote |
| BPIFC Knockout HeLa Cell Line | EDJ-KQ59253 | Human | 254240 | Details Get a Quote |
| BPIFC Knockout A-549 Cell Line | EDJ-KQ67722 | Human | 254240 | Details Get a Quote |
| BPIFC Knockout HCT 116 Cell Line | EDJ-KQ76104 | Human | 254240 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
