BPIFA3
BPI Fold Containing Family A Member 3
Gene Information Card
| Symbol | BPIFA3 |
|---|---|
| Full Name | BPI Fold Containing Family A Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 128859 ncbi.nlm.nih.gov/gene/128859 |
| Ensembl ID | ENSG00000196419 |
| UniProt ID | Q8N4P3 |
| OMIM ID | 614768 |
| HGNC ID | 16199 |
| Aliases | C20orf186, dJ726C3.5, LPLUNC3, PLUNC3, SPLUNC3 |
Description
BPIFA3 is a member of the BPI fold-containing family, which includes proteins involved in innate immune responses, particularly in mucosal surfaces. The gene is located on chromosome 20q11.21 and encodes a secreted protein expressed in the upper respiratory tract and oral cavity. BPIFA3 is part of the PLUNC (palate, lung, and nasal epithelium clone) family and may play a role in host defense against microbial pathogens.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 12.2 | Medium |
| Nasopharynx | 8.5 | Medium |
| Lung | 3.1 | Low |
| Trachea | 2.8 | Low |
| Tonsil | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A-431 (epidermoid carcinoma) | 0.6 | Low expression |
| HaCaT (keratinocyte) | 0.3 | Low expression |
| HPAF-II (pancreatic adenocarcinoma) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations documented in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • antibacterial humoral response (GO:0019731) |
| • defense response to bacterium (GO:0042742) |
Protein Summary
BPIFA3 is a secreted protein of 256 amino acids, containing a BPI/LBP/CETP domain characteristic of lipid-binding and antimicrobial proteins. It is predominantly expressed in salivary glands and nasopharyngeal epithelium, suggesting a role in mucosal immunity. The protein structure includes a signal peptide for secretion and conserved cysteine residues for disulfide bond formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BPIFA3 Knockout HEK293 Cell Line | EDJ-KQ9201 | Human | 128861 | Details Get a Quote |
| BPIFA3 Knockout HeLa Cell Line | EDJ-KQ58254 | Human | 128861 | Details Get a Quote |
| BPIFA3 Knockout A-549 Cell Line | EDJ-KQ66742 | Human | 128861 | Details Get a Quote |
| BPIFA3 Knockout HCT 116 Cell Line | EDJ-KQ75153 | Human | 128861 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
