KLK8 (Kallikrein Related Peptidase 8)
A serine protease involved in neuroplasticity, skin desquamation, and cancer progression.
Gene Information Card
| Symbol | KLK8 |
|---|---|
| Full Name | Kallikrein Related Peptidase 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.41 |
| NCBI Gene ID | 11202 ncbi.nlm.nih.gov/gene/11202 |
| Ensembl ID | ENSG00000129455 |
| UniProt ID | O60259 |
| OMIM ID | 605644 |
| HGNC ID | 6369 |
| Aliases | NP, NRPN, PRSS19, TADG14, neuropsin |
Description
KLK8 (kallikrein related peptidase 8) encodes a serine protease of the kallikrein family. The protein is involved in extracellular matrix remodeling, neuroplasticity, and skin desquamation. It is expressed in the central nervous system, skin, and various epithelial tissues. Dysregulation of KLK8 has been implicated in Alzheimer disease, epilepsy, and several cancers, including ovarian and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer Disease | Altered KLK8 expression may contribute to amyloid-beta accumulation and synaptic dysfunction. | PMID: 19013282 |
| Epilepsy | KLK8 modulates synaptic plasticity and seizure susceptibility in animal models. | PMID: 15914615 |
| Ovarian Cancer | Overexpression of KLK8 promotes tumor invasion and metastasis through ECM degradation. | PMID: 12670967 |
| Breast Cancer | Elevated KLK8 levels correlate with poor prognosis and hormone receptor status. | PMID: 16982746 |
| Atopic Dermatitis | Increased KLK8 activity disrupts skin barrier function via protease-activated receptor 2. | PMID: 15674363 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Skin | 8.3 | Low |
| Prostate | 6.1 | Low |
| Breast | 4.7 | Low |
| Ovary | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HaCaT (keratinocyte) | 9.8 | Skin model |
| MCF-7 (breast cancer) | 7.4 | Hormone-responsive |
| OVCAR-3 (ovarian cancer) | 11.6 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.247G>A (p.Gly83Arg) | Missense | <0.01% | Unknown functional effect |
| c.523C>T (p.Arg175Trp) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in KLK8.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function through increased proteolytic activity.
Dominant Negative (DN)
Not described for KLK8.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa04610 – Complement and coagulation cascades
• Reactome: R-HSA-1474228 – Degradation of the extracellular matrix
• Reactome: R-HSA-6809371 – Formation of the cornified envelope
Protein Summary
KLK8 (neuropsin) is a secreted serine protease of 260 amino acids (precursor) with a catalytic triad (His57, Asp102, Ser195). It is synthesized as a zymogen and activated by proteolytic cleavage. The protein is involved in neural plasticity, learning, and memory through modulation of synaptic transmission. In skin, it contributes to desquamation by degrading corneodesmosomes. Aberrant expression is linked to tumor progression and neurodegenerative disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLK8 Knockout HEK293 Cell Line | EDJ-KQ7332 | Human | 11202 | Details Get a Quote |
| KLK8 Knockout HCT 116 Cell Line | EDJ-KQ32418 | Human | 11202 | Details Get a Quote |
| KLK8 Knockout HeLa Cell Line | EDJ-KQ55602 | Human | 11202 | Details Get a Quote |
| KLK8 Knockout A-549 Cell Line | EDJ-KQ64099 | Human | 11202 | Details Get a Quote |
