CASP14: Caspase 14, a Key Regulator of Epidermal Differentiation and Barrier Formation
Comprehensive genomic and proteomic overview of CASP14, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | CASP14 |
|---|---|
| Full Name | caspase 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 23581 ncbi.nlm.nih.gov/gene/23581 |
| Ensembl ID | ENSG00000105141 |
| UniProt ID | P31944 |
| OMIM ID | 605848 |
| HGNC ID | 1503 |
| Aliases | MICE, CASP-14 |
Description
CASP14 (caspase 14) is a member of the cysteine-aspartic acid protease (caspase) family. Unlike other caspases primarily involved in apoptosis, CASP14 plays a critical role in epidermal differentiation and skin barrier formation. It is specifically expressed in the epidermis and is activated during keratinocyte cornification, where it processes filaggrin and other structural proteins to form the stratum corneum. CASP14 is also implicated in antimicrobial defense and inflammation regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atopic dermatitis | Reduced CASP14 expression leads to impaired filaggrin processing and compromised skin barrier, increasing allergen penetration and inflammation. | ClinVar, PMID: 21763440 |
| Ichthyosis vulgaris | Loss-of-function variants in CASP14 may contribute to abnormal keratinocyte differentiation and scaling. | OMIM #605848, PMID: 21763440 |
| Psoriasis | Altered CASP14 expression correlates with aberrant epidermal proliferation and differentiation. | NCBI Gene, PMID: 21763440 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 58.2 | High |
| Esophagus | 12.1 | Medium |
| Cervix, uterine | 6.5 | Low |
| Vagina | 5.8 | Low |
| Breast | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 45.0 | High expression; model for epidermal differentiation |
| A431 (epidermoid carcinoma) | 38.5 | High expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.320G>A (p.Arg107His) | Missense | <0.01% | Reduced catalytic activity; associated with atopic dermatitis |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression; potential loss-of-function |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown effect; rare population variant |
Mutation functional classification
Loss of Function (LOF)
p.Met1Val (start loss) and p.Arg107His (reduced catalytic activity) are classified as loss-of-function variants, impairing CASP14 protease activity and filaggrin processing.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CASP14 in curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CASP14.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity | • cysteine-type peptidase activity |
| • peptidase activity | • proteolysis |
| • keratinocyte differentiation | • cornification |
| • epidermis development | • skin development |
| • apoptotic process | • inflammatory response |
Pathways
• Apoptosis (KEGG hsa04210)
• Caspase cascade in apoptosis (Reactome R-HSA-111461)
• Keratinization (Reactome R-HSA-6805567)
• Formation of the cornified envelope (Reactome R-HSA-6809371)
Protein Summary
Caspase-14 is a 242-amino acid protein (UniProt P31944) with a molecular weight of approximately 27.7 kDa. It contains a caspase catalytic domain with a conserved active site cysteine (Cys245) and histidine (His237). Unlike other caspases, caspase-14 is not involved in apoptosis but is activated during keratinocyte cornification. It is synthesized as a zymogen and processed into large and small subunits. The protein localizes to the cytoplasm and is secreted into the extracellular space during epidermal differentiation. Its primary function is to process filaggrin, a key protein for skin barrier integrity, and it also contributes to antimicrobial peptide activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CASP14 Knockout HEK293 Cell Line | EDJ-KQ2785 | Human | 23581 | Details Get a Quote |
| CASP14 Knockout HeLa Cell Line | EDJ-KQ55776 | Human | 23581 | Details Get a Quote |
| CASP14 Knockout A-549 Cell Line | EDJ-KQ64271 | Human | 23581 | Details Get a Quote |
| CASP14 Knockout HCT 116 Cell Line | EDJ-KQ72717 | Human | 23581 | Details Get a Quote |
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