SERPINB12
Serpin Family B Member 12
Gene Information Card
| Symbol | SERPINB12 |
|---|---|
| Full Name | Serpin Family B Member 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.33 |
| NCBI Gene ID | 89777 ncbi.nlm.nih.gov/gene/89777 |
| Ensembl ID | ENSG00000166670 |
| UniProt ID | Q96P63 |
| OMIM ID | 614058 |
| HGNC ID | HGNC:23895 |
| Aliases | SERPINB12, serpin peptidase inhibitor, clade B (ovalbumin), member 12 |
Description
SERPINB12 (Serpin Family B Member 12) is a protein-coding gene that belongs to the serpin family of serine protease inhibitors. The encoded protein inhibits trypsin and plasmin, and may play a role in regulating proteolysis in various tissues. SERPINB12 is expressed in multiple tissues, including the skin, esophagus, and placenta, and has been implicated in cancer and inflammatory processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect tumor invasion and metastasis via protease inhibition | COSMIC database reports somatic mutations in multiple cancer types |
| Inflammatory disorders | Potential role in regulating protease-mediated inflammation | Inferred from serpin family function and expression in immune tissues |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 10.2 | Medium |
| Placenta | 8.9 | Medium |
| Lung | 5.1 | Low |
| Breast | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 15.0 | High expression |
| A549 (lung carcinoma) | 6.2 | Moderate expression |
| MCF7 (breast cancer) | 3.8 | 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.245G>A (p.Arg82Gln) | Missense | <0.01% | Reported in COSMIC for skin cancer |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential loss of inhibitory activity due to missense mutations in reactive center loop
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity | • protease binding |
| • cytoplasm | • extracellular exosome |
Pathways
• Serine protease inhibitor pathway
• Regulation of proteolysis
Protein Summary
SERPINB12 encodes a 405-amino acid protein (UniProt Q96P63) that functions as a serine protease inhibitor, specifically targeting trypsin and plasmin. The protein contains a serpin domain and is localized to the cytoplasm and extracellular exosomes. It is involved in the regulation of proteolytic cascades and may contribute to tissue homeostasis and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINB12 Knockout HEK293 Cell Line | EDJ-KQ10503 | Human | 89777 | Details Get a Quote |
| SERPINB12 Knockout HeLa Cell Line | EDJ-KQ57735 | Human | 89777 | Details Get a Quote |
| SERPINB12 Knockout A-549 Cell Line | EDJ-KQ66231 | Human | 89777 | Details Get a Quote |
| SERPINB12 Knockout HCT 116 Cell Line | EDJ-KQ74653 | Human | 89777 | Details Get a Quote |
