SERPINB8
Serpin Family B Member 8
Gene Information Card
| Symbol | SERPINB8 |
|---|---|
| Full Name | Serpin Family B Member 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.33 |
| NCBI Gene ID | 5271 ncbi.nlm.nih.gov/gene/5271 |
| Ensembl ID | ENSG00000134371 |
| UniProt ID | P50452 |
| OMIM ID | 601697 |
| HGNC ID | 8946 |
| Aliases | CAP2, PI8 |
Description
SERPINB8 (serpin family B member 8) is a protein-coding gene located on chromosome 18q21.33. It encodes a member of the serpin (serine protease inhibitor) superfamily, specifically the ovalbumin-like (ov-serpin) subfamily. The encoded protein inhibits serine proteases such as thrombin, trypsin, and urokinase-type plasminogen activator. It is involved in the regulation of proteolysis, inflammation, and hemostasis. Mutations in SERPINB8 have been associated with autosomal recessive nonsyndromic hearing loss and other disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB86) | Loss-of-function mutations in SERPINB8 disrupt protease inhibition in the inner ear, leading to cochlear degeneration. | ClinVar, OMIM |
| Ichthyosis with hearing loss | Biallelic SERPINB8 mutations impair epidermal barrier function and cochlear homeostasis. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 6.1 | Low |
| Testis | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 15.2 | High expression |
| A549 (lung carcinoma) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Trp82*) | Nonsense | Rare | Loss of function; associated with hearing loss |
| c.382C>T (p.Arg128Cys) | Missense | Rare | Impaired protease inhibition; linked to ichthyosis and hearing loss |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; hearing loss |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that reduce or abolish SERPINB8 protein expression or activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Serine protease inhibitor pathway (Reactome: R-HSA-1474228)
• Degradation of extracellular matrix (Reactome: R-HSA-1474228)
Protein Summary
SERPINB8 encodes a 45 kDa protein (UniProt P50452) belonging to the clade B serpin family. It functions as a serine protease inhibitor, targeting proteases such as thrombin, trypsin, and urokinase-type plasminogen activator. The protein is secreted and localizes to the extracellular space. It plays a role in regulating proteolytic cascades in the skin, inner ear, and other tissues. Loss-of-function mutations lead to hearing loss and skin abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPINB8 Knockout HEK293 Cell Line | EDJ-KQ5463 | Human | 5271 | Details Get a Quote |
| SERPINB8 Knockout A-549 Cell Line | EDJ-KQ28661 | Human | 5271 | Details Get a Quote |
| SERPINB8 Knockout HCT 116 Cell Line | EDJ-KQ28662 | Human | 5271 | Details Get a Quote |
| SERPINB8 Knockout HeLa Cell Line | EDJ-KQ28663 | Human | 5271 | Details Get a Quote |
