BPIFB6
BPI Fold Containing Family B Member 6
Gene Information Card
| Symbol | BPIFB6 |
|---|---|
| Full Name | BPI Fold Containing Family B Member 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 100287927 ncbi.nlm.nih.gov/gene/100287927 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A8MZ33 |
| OMIM ID | 614765 |
| HGNC ID | 37226 |
| Aliases | BPIL3, LPLUNC6 |
Description
BPIFB6 (BPI Fold Containing Family B Member 6) is a protein-coding gene located on chromosome 20q11.21. It belongs to the BPI fold-containing family, which includes proteins involved in host defense and lipid binding. The gene encodes a protein with a BPI (bactericidal/permeability-increasing protein) fold domain, suggesting a role in innate immunity. Expression is primarily observed in mucosal tissues, particularly in the oral cavity and respiratory tract.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 12.5 | Medium |
| Lung | 8.3 | Low |
| Trachea | 6.1 | Low |
| Tonsil | 4.2 | Low |
| Esophagus | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HPAF-II | 0.0 | Not detected |
| A-431 | 0.0 | Not detected |
| U-2 OS | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • lipid binding | • innate immune response |
Pathways
• No specific pathways annotated
Protein Summary
The BPIFB6 protein (UniProt A8MZ33) contains a BPI fold domain characteristic of lipid-binding and antimicrobial proteins. It is predicted to be secreted and may participate in mucosal defense. Structural and functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPIFB6 Knockout HEK293 Cell Line | EDJ-KQ9200 | Human | 128859 | Details Get a Quote |
| BPIFB6 Knockout HeLa Cell Line | EDJ-KQ58253 | Human | 128859 | Details Get a Quote |
| BPIFB6 Knockout A-549 Cell Line | EDJ-KQ66741 | Human | 128859 | Details Get a Quote |
| BPIFB6 Knockout HCT 116 Cell Line | EDJ-KQ75152 | Human | 128859 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
