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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CASP14
caspase 14
Chromosome 19 · 19p13.12
NCBI Gene: 23581Ensembl: ENSG00000105141.6HGNC: HGNC:1502UniProt: B2CIS9
139PubMed Papers
21Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmnucleuscytoplasmcytosolichthyosis, congenital, autosomal recessive 12Ichthyosis-hypotrichosis syndromecirrhosis of liverHepatic fibrosis
✦AI Summary

CASP14 (caspase-14) is a non-apoptotic cysteine protease with specialized functions in epidermal differentiation and cornification. It is the predominant caspase in the stratum corneum 1 and plays a critical role in keratinocyte maturation by proteolytically processing filaggrin and other substrates containing the [WY]-X-X-D motif 23. CASP14 mediates DNA fragmentation in differentiated keratinocytes through cleavage of DFFA/ICAD, releasing the nuclease DFFB/CAD 4. Beyond skin, it may contribute to retinal pigment epithelium barrier function 5. Genetically, CASP14 is regulated transcriptionally and post-transcriptionally by phosphorylated ΔNp63α via microRNA modulation in squamous cell carcinoma cells 6. CASP14 genetic polymorphisms (rs8110862) are associated with childhood leukemia risk, suggesting roles in apoptosis regulation beyond differentiation 7. CASP14 polymorphisms also correlate with skin barrier function and susceptibility to chemical-induced skin immunotoxicity 8. Mutations in CASP14 cause autosomal recessive congenital ichthyosis type 12, demonstrating its essential role in maintaining epidermal homeostasis and barrier integrity.

Sources cited
1
CASP14 is the predominant caspase in epidermal stratum corneum
PMID: 15556625
2
CASP14 has substrate preference for [WY]-X-X-D motif
PMID: 16854378
3
CASP14 is active on synthetic caspase substrate WEHD-ACF
PMID: 19960512
4
CASP14 involves in DNA degradation by cleaving DFFA/ICAD in differentiated keratinocytes
PMID: 24743736
5
CASP14 may be involved in retinal pigment epithelium cell barrier function
PMID: 25121097
6
Phospho-ΔNp63α regulates CASP14 expression through transcriptional and microRNA mechanisms
PMID: 24070899
7
CASP14 genetic polymorphisms are associated with childhood leukemia risk
PMID: 22548721
8
CASP14 polymorphisms affect skin barrier function and chemical-induced skin immunotoxicity
PMID: 34979876
Disease Associationsⓘ21
ichthyosis, congenital, autosomal recessive 12Open Targets
0.38Weak
Ichthyosis-hypotrichosis syndromeOpen Targets
0.37Weak
cirrhosis of liverOpen Targets
0.11Weak
Hepatic fibrosisOpen Targets
0.09Suggestive
Duane retraction syndromeOpen Targets
0.08Suggestive
chronic hepatitis C virus infectionOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
melanomaOpen Targets
0.05Suggestive
cholesteatomaOpen Targets
0.05Suggestive
superficial epidermolytic ichthyosisOpen Targets
0.05Suggestive
ichthyosis, congenital, autosomal recessive 14Open Targets
0.05Suggestive
peeling skin syndrome 6Open Targets
0.05Suggestive
COVID-19Open Targets
0.04Suggestive
psoriasisOpen Targets
0.04Suggestive
inflammatory bowel diseaseOpen Targets
0.04Suggestive
HyperglycemiaOpen Targets
0.04Suggestive
epidermolytic hyperkeratosis 2A, autosomal dominantOpen Targets
0.04Suggestive
ichthyosis, lamellar, autosomal dominantOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
Ichthyosis, congenital, autosomal recessive 12UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
EMRICASANPhase II
Caspase inhibitor
Hepatic fibrosis
Related Genes
FLG2Protein interaction82%BLMHProtein interaction82%TGM3Protein interaction80%SERPINB12Protein interaction73%CDSNProtein interaction72%FLGProtein interaction72%
Tissue Expression6 tissues
Liver
100%
Lung
73%
Ovary
55%
Bone Marrow
36%
Brain
14%
Heart
0%
Gene Interaction Network
Click a node to explore
CASP14FLG2BLMHTGM3SERPINB12CDSNFLG
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P31944
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.88 [0.65–1.22]
RankingsWhere CASP14 stands among ~20K protein-coding genes
  • #3,301of 20,598
    Most Researched139 · top quartile
  • #12,798of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedCASP14
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Accurate prediction of protein structures and interactions using a three-track neural network.
PMID: 34282049
Science · 2021
1.00
2
Applying and improving AlphaFold at CASP14.
PMID: 34599769
Proteins · 2021
0.90
3
Association between CASP7 and CASP14 genetic polymorphisms and the risk of childhood leukemia.
PMID: 22548721
Hum Immunol · 2012
0.80
4
Protein tertiary structure prediction and refinement using deep learning and Rosetta in CASP14.
PMID: 34331359
Proteins · 2021
0.70
5
Genetic variants affecting chemical mediated skin immunotoxicity.
PMID: 34979876
J Toxicol Environ Health B Crit Rev · 2022
0.60