SERPINB4
Serpin Family B Member 4 (Squamous Cell Carcinoma Antigen 2)
Gene Information Card
| Symbol | SERPINB4 |
|---|---|
| Full Name | Serpin Family B Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.33 |
| NCBI Gene ID | 6318 ncbi.nlm.nih.gov/gene/6318 |
| Ensembl ID | ENSG00000206073 |
| UniProt ID | P48594 |
| OMIM ID | 600518 |
| HGNC ID | 10569 |
| Aliases | SCCA2, LEUPIN, PI11, SCCA-2, SCCA1 |
Description
SERPINB4 encodes a member of the serine protease inhibitor (serpin) superfamily, specifically clade B (ovalbumin-type). The protein, also known as squamous cell carcinoma antigen 2 (SCCA2), inhibits cysteine and serine proteases, including cathepsin G and chymase. It is expressed in squamous epithelial cells and is frequently upregulated in squamous cell carcinomas, where it serves as a tumor marker. SERPINB4 is located in a cluster of serpin genes on chromosome 18q21.33 and is closely related to SERPINB3.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous cell carcinoma | Overexpression of SERPINB4 inhibits apoptosis and promotes tumor growth by suppressing protease activity | ClinVar, COSMIC |
| Psoriasis | Increased expression in psoriatic skin lesions; may contribute to abnormal keratinocyte differentiation | NCBI Gene, OMIM |
| Asthma | Elevated SERPINB4 levels in airway epithelium; involved in protease-antiprotease imbalance | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 37.2 | High |
| Esophagus | 25.8 | High |
| Cervix | 18.4 | Medium |
| Lung | 12.1 | Medium |
| Breast | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A431 (epidermoid carcinoma) | 45.6 | High expression |
| HeLa (cervical adenocarcinoma) | 22.3 | Moderate expression |
| HCC827 (lung adenocarcinoma) | 8.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.715G>A (p.Gly239Arg) | Missense | 0.02% (COSMIC) | Unknown functional effect |
| c.1043C>T (p.Thr348Met) | Missense | 0.01% (COSMIC) | Potential loss of inhibitory activity |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in tumors suggests potential gain-of-function via increased anti-apoptotic activity.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Serine protease inhibitor pathway (Reactome: R-HSA-1474228)
• p53-independent DNA damage response (KEGG: hsa05200)
Protein Summary
SERPINB4 is a 45 kDa protein composed of 390 amino acids. It belongs to the ov-serpin subfamily and functions as a protease inhibitor, targeting chymotrypsin-like serine proteases. The protein is localized in the cytoplasm and extracellular space. Its expression is induced by inflammatory stimuli and is elevated in various squamous cell carcinomas, where it is used as a serum biomarker. SERPINB4 also plays a role in inhibiting apoptosis and modulating immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINB4 Knockout HEK293 Cell Line | EDJ-KQ50611 | Human | 6318 | Details Get a Quote |
| SERPINB4 Knockout HeLa Cell Line | EDJ-KQ54395 | Human | 6318 | Details Get a Quote |
| SERPINB4 Knockout A-549 Cell Line | EDJ-KQ62887 | Human | 6318 | Details Get a Quote |
| SERPINB4 Knockout HCT 116 Cell Line | EDJ-KQ71353 | Human | 6318 | Details Get a Quote |
