Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23581
Gene name	Caspase 14
Gene symbol	CASP14
Synonyms (NCBI Gene)	ARCI12caspase-14
Chromosome	19
Chromosome location	19p13.12
Summary	This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing

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SNP ID	Visualize variation	Clinical significance	Consequence
rs769277893	CA>-	Pathogenic, likely-benign	Coding sequence variant, frameshift variant

178

Show/Hide all (178)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016842	hsa-miR-335-5p	Microarray	18185580
MIRT438335	hsa-miR-185-5p	Luciferase reporter assayWestern blot	24070899
MIRT438335	hsa-miR-185-5p	Luciferase reporter assayWestern blot	24070899
MIRT863749	hsa-let-7a	CLIP-seq
MIRT863750	hsa-let-7b	CLIP-seq
MIRT863751	hsa-let-7c	CLIP-seq
MIRT863752	hsa-let-7d	CLIP-seq
MIRT863753	hsa-let-7e	CLIP-seq
MIRT863754	hsa-let-7f	CLIP-seq
MIRT863755	hsa-let-7g	CLIP-seq
MIRT863756	hsa-let-7i	CLIP-seq
MIRT863757	hsa-miR-1182	CLIP-seq
MIRT863758	hsa-miR-1224-3p	CLIP-seq
MIRT863759	hsa-miR-1252	CLIP-seq
MIRT863760	hsa-miR-1260	CLIP-seq
MIRT863761	hsa-miR-1260b	CLIP-seq
MIRT863762	hsa-miR-1270	CLIP-seq
MIRT863763	hsa-miR-1273f	CLIP-seq
MIRT863764	hsa-miR-1275	CLIP-seq
MIRT863765	hsa-miR-1280	CLIP-seq
MIRT863766	hsa-miR-1343	CLIP-seq
MIRT863767	hsa-miR-138	CLIP-seq
MIRT863768	hsa-miR-143	CLIP-seq
MIRT863769	hsa-miR-192	CLIP-seq
MIRT863770	hsa-miR-193a-5p	CLIP-seq
MIRT863771	hsa-miR-196a	CLIP-seq
MIRT863772	hsa-miR-196b	CLIP-seq
MIRT863773	hsa-miR-198	CLIP-seq
MIRT863774	hsa-miR-215	CLIP-seq
MIRT863775	hsa-miR-302a	CLIP-seq
MIRT863776	hsa-miR-302b	CLIP-seq
MIRT863777	hsa-miR-302c	CLIP-seq
MIRT863778	hsa-miR-302d	CLIP-seq
MIRT863779	hsa-miR-302e	CLIP-seq
MIRT863780	hsa-miR-3180-5p	CLIP-seq
MIRT863781	hsa-miR-3190	CLIP-seq
MIRT863782	hsa-miR-3200-3p	CLIP-seq
MIRT863783	hsa-miR-3529	CLIP-seq
MIRT863784	hsa-miR-3606	CLIP-seq
MIRT863785	hsa-miR-3647-3p	CLIP-seq
MIRT863786	hsa-miR-3663-5p	CLIP-seq
MIRT863787	hsa-miR-3681	CLIP-seq
MIRT863788	hsa-miR-3689a-3p	CLIP-seq
MIRT863789	hsa-miR-3689c	CLIP-seq
MIRT863790	hsa-miR-3691-3p	CLIP-seq
MIRT863791	hsa-miR-372	CLIP-seq
MIRT863792	hsa-miR-373	CLIP-seq
MIRT863793	hsa-miR-378g	CLIP-seq
MIRT863794	hsa-miR-379	CLIP-seq
MIRT863795	hsa-miR-3934	CLIP-seq
MIRT863796	hsa-miR-412	CLIP-seq
MIRT863797	hsa-miR-4252	CLIP-seq
MIRT863798	hsa-miR-4267	CLIP-seq
MIRT863799	hsa-miR-4282	CLIP-seq
MIRT863800	hsa-miR-4290	CLIP-seq
MIRT863801	hsa-miR-431	CLIP-seq
MIRT863802	hsa-miR-4423-5p	CLIP-seq
MIRT863803	hsa-miR-4437	CLIP-seq
MIRT863804	hsa-miR-4451	CLIP-seq
MIRT863805	hsa-miR-4453	CLIP-seq
MIRT863806	hsa-miR-4458	CLIP-seq
MIRT863807	hsa-miR-4464	CLIP-seq
MIRT863808	hsa-miR-4470	CLIP-seq
MIRT863809	hsa-miR-4500	CLIP-seq
MIRT863810	hsa-miR-4504	CLIP-seq
MIRT863811	hsa-miR-451b	CLIP-seq
MIRT863812	hsa-miR-4525	CLIP-seq
MIRT863813	hsa-miR-4531	CLIP-seq
MIRT863814	hsa-miR-4538	CLIP-seq
MIRT863815	hsa-miR-4650-3p	CLIP-seq
MIRT863816	hsa-miR-4662a-3p	CLIP-seq
MIRT863817	hsa-miR-4665-5p	CLIP-seq
MIRT863818	hsa-miR-4674	CLIP-seq
MIRT863819	hsa-miR-4696	CLIP-seq
MIRT863820	hsa-miR-4708-5p	CLIP-seq
MIRT863821	hsa-miR-4712-5p	CLIP-seq
MIRT863822	hsa-miR-4723-5p	CLIP-seq
MIRT863823	hsa-miR-4728-5p	CLIP-seq
MIRT863824	hsa-miR-4748	CLIP-seq
MIRT863825	hsa-miR-4761-5p	CLIP-seq
MIRT863826	hsa-miR-4770	CLIP-seq
MIRT863827	hsa-miR-4786-3p	CLIP-seq
MIRT863828	hsa-miR-4793-5p	CLIP-seq
MIRT863829	hsa-miR-512-3p	CLIP-seq
MIRT863830	hsa-miR-519a	CLIP-seq
MIRT863831	hsa-miR-519b-3p	CLIP-seq
MIRT863832	hsa-miR-519c-3p	CLIP-seq
MIRT863833	hsa-miR-520a-3p	CLIP-seq
MIRT863834	hsa-miR-520a-5p	CLIP-seq
MIRT863835	hsa-miR-520b	CLIP-seq
MIRT863836	hsa-miR-520c-3p	CLIP-seq
MIRT863837	hsa-miR-520d-3p	CLIP-seq
MIRT863838	hsa-miR-520e	CLIP-seq
MIRT863839	hsa-miR-522	CLIP-seq
MIRT863840	hsa-miR-525-5p	CLIP-seq
MIRT863841	hsa-miR-532-3p	CLIP-seq
MIRT863842	hsa-miR-548p	CLIP-seq
MIRT863843	hsa-miR-549	CLIP-seq
MIRT863844	hsa-miR-552	CLIP-seq
MIRT863845	hsa-miR-571	CLIP-seq
MIRT863846	hsa-miR-620	CLIP-seq
MIRT863847	hsa-miR-625	CLIP-seq
MIRT863848	hsa-miR-7	CLIP-seq
MIRT863849	hsa-miR-766	CLIP-seq
MIRT863850	hsa-miR-770-5p	CLIP-seq
MIRT863851	hsa-miR-98	CLIP-seq
MIRT1546168	hsa-miR-1200	CLIP-seq
MIRT863758	hsa-miR-1224-3p	CLIP-seq
MIRT863760	hsa-miR-1260	CLIP-seq
MIRT863761	hsa-miR-1260b	CLIP-seq
MIRT863765	hsa-miR-1280	CLIP-seq
MIRT1546169	hsa-miR-3199	CLIP-seq
MIRT1546170	hsa-miR-4324	CLIP-seq
MIRT1546171	hsa-miR-4438	CLIP-seq
MIRT1546172	hsa-miR-5095	CLIP-seq
MIRT863841	hsa-miR-532-3p	CLIP-seq
MIRT1546173	hsa-miR-544b	CLIP-seq
MIRT1956062	hsa-miR-10a	CLIP-seq
MIRT1956063	hsa-miR-10b	CLIP-seq
MIRT1546168	hsa-miR-1200	CLIP-seq
MIRT863758	hsa-miR-1224-3p	CLIP-seq
MIRT863760	hsa-miR-1260	CLIP-seq
MIRT863761	hsa-miR-1260b	CLIP-seq
MIRT863765	hsa-miR-1280	CLIP-seq
MIRT1546169	hsa-miR-3199	CLIP-seq
MIRT863786	hsa-miR-3663-5p	CLIP-seq
MIRT1546170	hsa-miR-4324	CLIP-seq
MIRT1546171	hsa-miR-4438	CLIP-seq
MIRT863821	hsa-miR-4712-5p	CLIP-seq
MIRT863828	hsa-miR-4793-5p	CLIP-seq
MIRT1546172	hsa-miR-5095	CLIP-seq
MIRT863841	hsa-miR-532-3p	CLIP-seq
MIRT1546173	hsa-miR-544b	CLIP-seq
MIRT863850	hsa-miR-770-5p	CLIP-seq
MIRT1546168	hsa-miR-1200	CLIP-seq
MIRT863758	hsa-miR-1224-3p	CLIP-seq
MIRT2193722	hsa-miR-1227	CLIP-seq
MIRT863760	hsa-miR-1260	CLIP-seq
MIRT863761	hsa-miR-1260b	CLIP-seq
MIRT863765	hsa-miR-1280	CLIP-seq
MIRT2193723	hsa-miR-1301	CLIP-seq
MIRT863766	hsa-miR-1343	CLIP-seq
MIRT1546169	hsa-miR-3199	CLIP-seq
MIRT2193724	hsa-miR-371-5p	CLIP-seq
MIRT863793	hsa-miR-378g	CLIP-seq
MIRT1546170	hsa-miR-4324	CLIP-seq
MIRT863803	hsa-miR-4437	CLIP-seq
MIRT1546171	hsa-miR-4438	CLIP-seq
MIRT2193725	hsa-miR-4448	CLIP-seq
MIRT863810	hsa-miR-4504	CLIP-seq
MIRT863811	hsa-miR-451b	CLIP-seq
MIRT2193726	hsa-miR-455-5p	CLIP-seq
MIRT863818	hsa-miR-4674	CLIP-seq
MIRT2193727	hsa-miR-4685-5p	CLIP-seq
MIRT2193728	hsa-miR-4715-3p	CLIP-seq
MIRT863825	hsa-miR-4761-5p	CLIP-seq
MIRT863828	hsa-miR-4793-5p	CLIP-seq
MIRT2193729	hsa-miR-502-5p	CLIP-seq
MIRT2193730	hsa-miR-5047	CLIP-seq
MIRT1546172	hsa-miR-5095	CLIP-seq
MIRT2193731	hsa-miR-526b	CLIP-seq
MIRT863841	hsa-miR-532-3p	CLIP-seq
MIRT1546173	hsa-miR-544b	CLIP-seq
MIRT863843	hsa-miR-549	CLIP-seq
MIRT863757	hsa-miR-1182	CLIP-seq
MIRT863770	hsa-miR-193a-5p	CLIP-seq
MIRT863801	hsa-miR-431	CLIP-seq
MIRT863802	hsa-miR-4423-5p	CLIP-seq
MIRT2193722	hsa-miR-1227	CLIP-seq
MIRT1546169	hsa-miR-3199	CLIP-seq
MIRT1546171	hsa-miR-4438	CLIP-seq
MIRT2193726	hsa-miR-455-5p	CLIP-seq
MIRT2193728	hsa-miR-4715-3p	CLIP-seq
MIRT1546172	hsa-miR-5095	CLIP-seq
MIRT863757	hsa-miR-1182	CLIP-seq
MIRT863770	hsa-miR-193a-5p	CLIP-seq
MIRT863801	hsa-miR-431	CLIP-seq
MIRT863802	hsa-miR-4423-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	IEA
GO:0004197	Function	Cysteine-type endopeptidase activity	TAS	10203698
GO:0005515	Function	Protein binding	IPI	24872419, 25416956
GO:0005634	Component	Nucleus	IDA	23377137
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23377137
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008544	Process	Epidermis development	TAS	10203698
GO:0016787	Function	Hydrolase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031424	Process	Keratinization	TAS	18309324
GO:0043525	Process	Positive regulation of neuron apoptotic process	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0070268	Process	Cornification	TAS	18309324

MIM	HGNC	e!Ensembl
605848	1502	ENSG00000105141

P31944

Protein name

Caspase-14 (CASP-14) (EC 3.4.22.-) [Cleaved into: Caspase-14 subunit p17, mature form; Caspase-14 subunit p10, mature form; Caspase-14 subunit p20, intermediate form; Caspase-14 subunit p8, intermediate form]

Protein function

Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum (PubMed:15556625). Seems to play a role in keratinocyte differentiation and is required for cornification. Regulates maturation

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00656	Peptidase_C14	18 → 241		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in keratinocytes of adult skin suprabasal layers (from spinous layers to the stratum granulosum and stratum corneum) (at protein level). Expressed in keratinocytes of hair shaft and sebaceous glands (at protein level). In pso

Sequence

MSNPRSLEEEKYDMSGARLALILCVTKAREGSEEDLDALEHMFRQLRFESTMKRDPTAEQ
FQEELEKFQQAIDSREDPVSCAFVVLMAHGREGFLKGEDGEMVKLENLFEALNNKNCQAL
RAKPKVYIIQACRGEQRDPGETVGGDEIVMVIKDSPQTIPTYTDALHVYSTVEGYIAYRH
DQKGSCFIQTLVDVFTKRKGHILELLTEVTRRMAEAELVQEGKARKTNPEIQSTLRKRLY
LQ

Sequence length

242

Interactions

View interactions

	Reactome
			Formation of the cornified envelope

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BRONCHIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CASP14-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis, congenital, autosomal recessive 12	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Brain Neoplasms	Associate	23408445, 29287594	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	29287594	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	24070899, 36456645	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Stimulate	32927759	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Inhibit	21211653, 24743736	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Associate	25121097	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Associate	21203405	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	35538663	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glucose Intolerance	Associate	25121097	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Stimulate	35409074	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	25121097	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Varicelliform Eruption	Associate	21211653	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy retinal 1 North Carolina type	Associate	25121097	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Edema	Associate	25121097	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Associate	19626699	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Invasiveness	Inhibit	23645350	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	36375658	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	23645350, 35538663	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Inhibit	24743736	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleritis	Associate	36930145	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	38420803	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Inhibit	23645350	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Inhibit	23645350	★★★★★ ★☆☆☆☆ Found in Text Mining only

CASP14 (caspase 14)