BPIFB4
BPI Fold Containing Family B Member 4; associated with longevity and immune regulation
Gene Information Card
| Symbol | BPIFB4 |
|---|---|
| Full Name | BPI Fold Containing Family B Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 149628 ncbi.nlm.nih.gov/gene/149628 |
| Ensembl ID | ENSG00000125870 |
| UniProt ID | Q8NFQ6 |
| OMIM ID | 615718 |
| HGNC ID | 16115 |
| Aliases | BPIL3, LPLUNC4, C20orf186 |
Description
BPIFB4 encodes a member of the BPI fold-containing family, which includes proteins involved in innate immunity and lipid binding. The gene is expressed in various tissues and has been linked to longevity, immune modulation, and susceptibility to certain diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Longevity | Genetic variants associated with exceptional longevity in humans | PMID: 25686661 |
| Coronary artery disease | Potential role in lipid metabolism and inflammation | PMID: 28356546 |
| Hypertension | Association with blood pressure regulation | PMID: 28356546 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 12.5 | Medium |
| Lung | 8.3 | Low |
| Trachea | 7.1 | Low |
| Spleen | 5.2 | Low |
| Bone marrow | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HPAF-II | 10.2 | Pancreatic cancer cell line |
| A549 | 6.5 | Lung carcinoma cell line |
| HepG2 | 4.1 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2070325 | SNP | 0.25 (global) | Associated with longevity |
| rs11699009 | SNP | 0.15 (European) | Associated with hypertension |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; no confirmed loss-of-function variants reported.
Gain of Function (GOF)
Not well characterized; some variants may enhance protein stability or activity.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • lipid binding | • innate immune response |
| • extracellular region |
Pathways
• Innate immune system
• Lipid metabolism
Protein Summary
BPIFB4 is a secreted protein containing a BPI (bactericidal/permeability-increasing protein) fold domain, which is involved in lipid binding and innate immunity. It is expressed in mucosal tissues and may play a role in host defense and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPIFB4 Knockout HEK293 Cell Line | EDJ-KQ11239 | Human | 149954 | Details Get a Quote |
| BPIFB4 Knockout HeLa Cell Line | EDJ-KQ58644 | Human | 149954 | Details Get a Quote |
| BPIFB4 Knockout A-549 Cell Line | EDJ-KQ67126 | Human | 149954 | Details Get a Quote |
| BPIFB4 Knockout HCT 116 Cell Line | EDJ-KQ75532 | Human | 149954 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
