KRT14

Summary

KRT14 (keratin 14, HGNC:6416) is a protein-coding gene on chromosome 17q21.2, encoding Keratin, type I cytoskeletal 14 (P02533). The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.

This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11.

Source: NCBI Gene 3861 — RefSeq curated summary.

At a glance

• Gene–disease (curated): epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (Definitive, GenCC) — +8 more curated relationships
• Clinical variants (ClinVar): 292 total — 53 pathogenic, 22 likely-pathogenic
• Phenotypes (HPO): 117
• MANE Select transcript: NM_000526

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6416
Approved symbol	KRT14
Name	keratin 14
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000186847
Ensembl biotype	protein_coding
OMIM	148066
Entrez	3861

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 retained_intron, 1 protein_coding

ENST00000167586, ENST00000441550, ENST00000476662

RefSeq mRNA: 1 — MANE Select: NM_000526 NM_000526

CCDS: CCDS11400

Canonical transcript exons

ENST00000167586 — 8 exons

Exon	Start	End
ENSE00001292464	41583094	41583140
ENSE00001729898	41582279	41582532
ENSE00001805364	41586310	41586895
ENSE00002366185	41584975	41585057
ENSE00002374489	41584257	41584413
ENSE00003623532	41583551	41583676
ENSE00003658735	41583760	41583921
ENSE00003673283	41583235	41583455

Expression profiles

Bgee: expression breadth ubiquitous, 193 present calls, max score 100.00.

FANTOM5 (CAGE): breadth broad, TPM avg 61.1776 / max 7620.5651, expressed in 203 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165984	59.5628	195
165983	0.6910	76
165977	0.3919	68
165974	0.1910	55
165973	0.1740	59
165975	0.0886	38
165985	0.0436	14
165976	0.0348	21

Top tissues by expression

284 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gingiva	UBERON:0001828	100.00	gold quality
gingival epithelium	UBERON:0001949	100.00	gold quality
upper arm skin	UBERON:0004263	100.00	gold quality
upper leg skin	UBERON:0004262	99.98	gold quality
penis	UBERON:0000989	99.97	gold quality
mammalian vulva	UBERON:0000997	99.97	gold quality
nipple	UBERON:0002030	99.97	gold quality
tongue squamous epithelium	UBERON:0006919	99.97	gold quality
skin of hip	UBERON:0001554	99.96	gold quality
hair follicle	UBERON:0002073	99.95	gold quality
skin of abdomen	UBERON:0001416	99.81	gold quality
body of tongue	UBERON:0011876	99.77	gold quality
zone of skin	UBERON:0000014	99.75	gold quality
tongue	UBERON:0001723	99.73	gold quality
pharyngeal mucosa	UBERON:0000355	99.71	gold quality
cervix epithelium	UBERON:0004801	99.71	gold quality
cervix squamous epithelium	UBERON:0006922	99.68	gold quality
palpebral conjunctiva	UBERON:0001812	99.67	gold quality
periodontal ligament	UBERON:0008266	99.66	gold quality
skin of leg	UBERON:0001511	99.63	gold quality
superior surface of tongue	UBERON:0007371	99.58	gold quality
oral cavity	UBERON:0000167	99.54	gold quality
lower esophagus mucosa	UBERON:0035834	99.46	gold quality
amniotic fluid	UBERON:0000173	99.20	gold quality
mammary duct	UBERON:0001765	99.11	gold quality
mouth mucosa	UBERON:0003729	98.99	gold quality
minor salivary gland	UBERON:0001830	98.84	gold quality
epithelium of mammary gland	UBERON:0003244	98.84	gold quality
saliva-secreting gland	UBERON:0001044	98.71	gold quality
parotid gland	UBERON:0001831	98.34	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	39844.12
E-MTAB-10855	yes	13387.95
E-HCAD-1	yes	7939.58
E-MTAB-10885	yes	7319.59
E-MTAB-9841	yes	6827.52
E-CURD-7	yes	5660.03
E-ENAD-21	yes	5660.03
E-CURD-114	yes	5501.29
E-MTAB-10596	no	25181.18
E-GEOD-124858	no	364.06
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ASCL4, CRH, EGFR, ELF1, ESR1, ETS1, FOXN1, HOXB2, JUN, POU2F3, POU3F1, PRL, RARA, REL, SMAD1, SMAD2, SMAD7, SP1, SP3, SPI1, TFAP2A, TFAP2C, TP53, TP63, VDR, ZBTB16, ZHX2, ZNF699

miRNA regulators (miRDB)

15 targeting KRT14, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-5006-5P	98.79	66.92	1246
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-127-5P	97.78	67.64	869
HSA-MIR-1202	97.19	66.43	827
HSA-MIR-3972	97.19	66.46	808
HSA-MIR-6774-5P	95.94	65.18	722
HSA-MIR-4330	95.44	66.39	993

Literature-anchored findings (GeneRIF, showing 40)

• A spontaneous CD8 T cell-dependent autoimmune disease to an antigen expressed under the human keratin 14 promoter. (PMID:12165543)
• Three novel KRT14 mutations identified in 9 Epidermolysis bullosa simplex patients. (PMID:12655565)
• investigated novel KRT14 missense mutations in epidermolysis bullosa simplex in a cellular expression system in order to analyse their effects on the keratin cytoskeleton (PMID:12930305)
• Keratin 14 has a role in binding to TNFalpha receptor-associated death domain (TRADD), and in susceptibility of keratinocytes to caspase-8-mediated apoptosis (PMID:14660619)
• novel recessive missense mutation in epidermolysis bullosa simplex (PMID:15654986)
• many cases result from de novo mutations in KRT5 and KRT14 genes in epidermolysis bullosa simplex (PMID:16098032)
• Novel mutations within KRT14 are associated with epidermolysis bullosa simplex. (PMID:16786515)
• Heterozygous nonsense or frameshift mutations in KRT14 were found to segregate with Naegeli-Franceschetti-Jadassohn syndrome or dermatopathia pigmentosa reticularis trait in five families. (PMID:16960809)
• analysis of keratin 5 and keratin 14 mutations in epidermolysis bullosa simplex in Scottish patients (PMID:17039244)
• These studies provide a potential mechanism by which deltaNp63 directly governs the expression of K14 in a keratinocyte-specific manner. (PMID:17159913)
• study presents a missense mutation in exon 1 of K14, R125C, identified in the affected individuals of a Chinese family with epidermolysis bullosa simplex-Dowling-Meara (EBS-DM) (PMID:17659012)
• Better basal gene expression was observed by co-cultured respiratory epithelial cells compared to dispase dissociated cells. (PMID:17891046)
• K14 and K16 were detected in the tumour cells, suggesting differentiation towards the outer root sheath beneath the orifice of the sebaceous duct. (PMID:18005116)
• Naegeli-Franceschetti-Jadassohn syndrome results from haploinsufficiency for K14 and increased susceptibility of keratinocytes to pro-apoptotic signals may be involved in the pathogenesis of this ectodermal dysplasia syndrome (PMID:18049449)
• Transgenic mice were generated using the keratin-14 promoter/enhancer to direct expression of wild-type human CXCR2 (K14hCXCR2 WT) or mutant CXCR2. (PMID:18505935)
• expression of human K14 initiates squamous differentiation program in the mouse lung, but fails to promote squamous maturation (PMID:18701433)
• Including the present case, 8 of the 13 families have the R125C or R125H mutation; eight have mutations in KRT14, and five have mutations in KRT5 (PMID:18717745)
• Cataracts in transgenic mice caused by a human papillomavirus type 18 E7 oncogene driven by KRT1-14 are reported. (PMID:18723014)
• Human eccrine sweat glands express CK7, CK8, CK14, CK18, CK19, CEA, EMA, Ki67, p63, EGF and EGFR. In skin, CEA can be used as a specific immunological marker of sweat glands. (PMID:19032382)
• CK-8 and miR-143 expression were significantly higher in Barrett’s mucosa, before and after APC, whereas miRNA-205 and CK-14 expression was significantly lower in Barrett’s mucosa compared to all categories of squamous mucosa. (PMID:19190970)
• DeltaNp63 alone can restore the expression of the basal keratins and reinitiate the failed epidermal differentiation program in the skin of p63 null animals. (PMID:19461998)
• Infection by HPV may alter the differentiation status of the epidermis, leading to a major expression of cytokeratin 14 (PMID:19515043)
• Mutations characteristic of Dowling-Meara epidermolysis bullosa induce down-regulation of junction proteins in keratinocytes. (PMID:19616543)
• The filament self-organization is mediated by multivalent interactions involving distinct regions in K14 protein. (PMID:19651890)
• Expression was altered in oral lichen planus lesions (PMID:19776502)
• new heterozygous amino acid substitution polymorphism in the variable keratin 14 N-terminal head domain (KRT14:c.88C>T, p.Arg30Cys) (PMID:19797037)
• keratin mutant cells also show a resistance to apoptosis following mechanical stress that is reversed by inhibiting ERK (PMID:19847192)
• analysis of a keratin 14 hotspot mutation in the Dowling-Meara type of epidermolysis bullosa simplex (PMID:19854623)
• this study demonstrates a strict genotype-phenotype correlation in vivo and in primary cultures of keratinocytes from patients with epidermolysis bullosa simplex with KRT5 mutations. (PMID:20030639)
• Mutational location in KRT5 or KRT14 is most important factor in determining phenotype severity. Positions of mutations in both subtypes were more widely distributed within rod domains and in L12 linker domains of both keratin genes. (PMID:20060687)
• autoantibodies in Scurfy mice and patients with IPEX target keratin 14 (PMID:20147963)
• The involvement of Hsc70 and Hsp70 in mutant keratin degradation was demonstrated using CHIP-p.Met1_Ala142del (DeltaTPR-CHIP). (PMID:20151404)
• Twenty-five patients were diagnosed with epidermolysis bullosa simplex (EBS) EBS-loc, eight with EBS-gen, 12 with EBS-DM, four with EBS-MP and one case with EBS-migr; in three cases clinical data were not available (PMID:20199538)
• Fascin and CK14 are highly expressed in squamous cell carcinoma, compared with other histological types of carcinoma. (PMID:21223690)
• data implicate that epidermolysis bullosa simplex due to mutations in KRT5 and KRT14 is not clinically discernable from phenotypes caused by mutations in other genes. (PMID:21375516)
• heterozygous G to A transition was found at nucleotide postion 1231 in exon 6 of KRT14 in family with epidermolysis bullosa simplex, generalized (PMID:21413954)
• Mutation analysis of an epidermolysis bullosa simplex family revealed that affected individuals were heterozygous for a, to our knowledge, previously unreported mutation of c.1237G>C (p.Ala413Pro) in KRT14. (PMID:21593775)
• This study adds two more novel recessive mutations in this gene associated with epidermolysis bullosa simplex. This is the first occurence in a Mediterranean population. (PMID:21623745)
• keratin 14 functional knockout causes severe recessive epidermolysis bullosa simplex, and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome (PMID:21734713)
• Our results suggest that keratin 5 and keratin 14 may have a role in maintenance of cell proliferation potential in the basal layer of stratified epithelia (PMID:21900500)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krt14	ENSMUSG00000045545
rattus_norvegicus	Krt14	ENSRNOG00000071328

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360)

Protein

Protein identifiers

Keratin, type I cytoskeletal 14 — P02533 (reviewed: P02533)

Alternative names: Cytokeratin-14, Keratin-14

All UniProt accessions (1): P02533

UniProt curated annotations — full annotation on UniProt →

Function. The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.

Subunit / interactions. Heterotetramer of two type I and two type II keratins. Forms a disulfide-linked heterodimer (via 2B domains) with KRT5 (via 2B domains). Forms a heterodimer with KRT1; the interaction is more abundant in the absence of KRT5. Interacts with PLEC isoform 1C, when in a heterodimer with KRT5. Interacts with TRADD and with keratin filaments. Associates with other type I keratins. Interacts with EPPK1. Interacts with KLHL24. Interacts with PKP1 (via N-terminus) and PKP2.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Expressed in the corneal epithelium (at protein level). Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen.

Post-translational modifications. A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage around the nucleus. Ubiquitinated by the BCR(KLHL24) E3 ubiquitin ligase complex.

Disease relevance. Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1A is an autosomal dominant form characterized by generalized intraepidermal skin blistering that begins and is very prominent at birth. EBS1A may be life-threatening in the first year of life. Tendency to blistering diminishes in adolescence. The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic. The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1B is an autosomal dominant form characterized by generalized intraepidermal blistering beginning at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (EBS1D) [MIM:601001] A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1D is an autosomal recessive form characterized by blistering beginning at birth or early childhood. In some patients hands and feet are primarily affected, and in others blistering anywhere on the body may occur. In some patients the condition improves with age. The disease is caused by variants affecting the gene represented in this entry. Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000] A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. The disease is caused by variants affecting the gene represented in this entry. Dermatopathia pigmentosa reticularis (DPR) [MIM:125595] A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_000517* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002957	Keratin_I	Family
IPR018039	IF_conserved	Conserved_site
IPR039008	IF_rod_dom	Domain

Pfam: PF00038

UniProt features (75 total): sequence variant 51, region of interest 9, mutagenesis site 6, sequence conflict 2, chain 1, domain 1, compositionally biased region 1, site 1, modified residue 1, disulfide bond 1, helix 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6JFV	X-RAY DIFFRACTION	2.6
3TNU	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P02533-F1	76.00	0.53

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 364 (stutter)

Post-translational modifications (1): 435

Disulfide bonds (1): 367

Mutagenesis-validated functional residues (6):

Position	Phenotype
335	increase in keratin-positive aggregates and keratin intermediate filament networks that are very thin and sparse with sh
342	increase in keratin-positive aggregates and keratin intermediate filament networks that are very thin and sparse with sh
346	increase in keratin-positive aggregates and keratin intermediate filament networks that are very thin and sparse with sh
365	no effect on interaction with krt5 or keratin intermediate filament networks.
366	no effect on interaction with krt5 or keratin intermediate filament networks.
372	no effect on interaction with krt5 or keratin intermediate filament networks.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-446107	Type I hemidesmosome assembly
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope
R-HSA-9725554	Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
R-HSA-9927432	Developmental Lineage of Mammary Gland Myoepithelial Cells
R-HSA-1266738	Developmental Biology
R-HSA-1500931	Cell-Cell communication
R-HSA-446728	Cell junction organization
R-HSA-9734767	Developmental Cell Lineages

MSigDB gene sets: 391 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RNGTGGGC_UNKNOWN, GOBP_EPITHELIUM_DEVELOPMENT, CHIBA_RESPONSE_TO_TSA_UP, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, DORN_ADENOVIRUS_INFECTION_12HR_UP, JAEGER_METASTASIS_DN, MODULE_418, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, PID_REG_GR_PATHWAY

GO Biological Process (8): morphogenesis of an epithelium (GO:0002009), epidermis development (GO:0008544), response to radiation (GO:0009314), keratinocyte differentiation (GO:0030216), hair cycle (GO:0042633), intermediate filament organization (GO:0045109), intermediate filament bundle assembly (GO:0045110), stem cell differentiation (GO:0048863)

GO Molecular Function (5): structural constituent of cytoskeleton (GO:0005200), structural constituent of skin epidermis (GO:0030280), keratin filament binding (GO:1990254), structural molecule activity (GO:0005198), protein binding (GO:0005515)

GO Cellular Component (10): cornified envelope (GO:0001533), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), intermediate filament (GO:0005882), keratin filament (GO:0045095), basal part of cell (GO:0045178), extracellular exosome (GO:0070062), cell periphery (GO:0071944)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Developmental Biology	2
Cell junction organization	1
Keratinization	1
Developmental Cell Lineages of the Integumentary System	1
Developmental Lineages of the Mammary Gland	1
Cell-Cell communication	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
structural molecule activity	2
tissue morphogenesis	1
epithelium development	1
tissue development	1
response to abiotic stimulus	1
epidermal cell differentiation	1
skin development	1
molting cycle	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
cellular component assembly	1
intermediate filament organization	1
cell differentiation	1
cytoskeleton	1
cytoskeleton organization	1
intermediate filament binding	1
molecular_function	1
binding	1
plasma membrane	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
intermediate filament	1
extracellular vesicle	1

Protein interactions and networks

STRING

2974 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT14	KRT5	P13647	986
KRT14	PLEC	Q15149	794
KRT14	COL17A1	Q9UMD9	765
KRT14	PGR	P06401	725
KRT14	ITGB4	P16144	724
KRT14	LORICRIN	P23490	721
KRT14	TP63	Q9H3D4	704
KRT14	ITGA6	P23229	696
KRT14	DSG3	P32926	688
KRT14	DSG1	Q02413	676
KRT14	IVL	P07476	669
KRT14	EGF	P01133	667
KRT14	FLG	P20930	663
KRT14	CDH1	P12830	662
KRT14	FLG2	Q5D862	653

IntAct

159 interactions, top by confidence:

A	B	Type	Score
KRT5	KRT14	psi-mi:“MI:0407”(direct interaction)	0.760
KRT5	KRT14	psi-mi:“MI:0915”(physical association)	0.760
KRT5	KRT14	psi-mi:“MI:0408”(disulfide bond)	0.760
KRT14	KRT5	psi-mi:“MI:0915”(physical association)	0.760
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PLEC	KRT14	psi-mi:“MI:0915”(physical association)	0.560
KRT14	KRT80	psi-mi:“MI:0915”(physical association)	0.560
KRT14	KRT78	psi-mi:“MI:0915”(physical association)	0.560
KRT14	KRT1	psi-mi:“MI:0915”(physical association)	0.560
KRT86	KRT14	psi-mi:“MI:0915”(physical association)	0.560
KRT14	KIFC3	psi-mi:“MI:0915”(physical association)	0.560
KRT14	KRT79	psi-mi:“MI:0915”(physical association)	0.560
AMOT	KRT14	psi-mi:“MI:0915”(physical association)	0.560
KRT14	CTTNBP2	psi-mi:“MI:0915”(physical association)	0.560
KRT14	ABI2	psi-mi:“MI:0915”(physical association)	0.560
KRT14	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
KRT14	PUS10	psi-mi:“MI:0915”(physical association)	0.560
KRT14	UBASH3A	psi-mi:“MI:0915”(physical association)	0.560
KRT14	ABI3	psi-mi:“MI:0915”(physical association)	0.560
KRT14	KRT81	psi-mi:“MI:0915”(physical association)	0.560
KRT14	KRT6C	psi-mi:“MI:0915”(physical association)	0.560
OIP5	KRT14	psi-mi:“MI:0915”(physical association)	0.560
KRT14	PRPH	psi-mi:“MI:0915”(physical association)	0.560
KRT14	SMARCE1	psi-mi:“MI:0915”(physical association)	0.560
KRT14	KRT72	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (218): KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS), KRT14 (Proximity Label-MS), KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS), KRT14 (Affinity Capture-MS)

ESM2 similar proteins: A1KQY9, A1L595, A5A6M0, A6QQQ9, O57607, O57611, O77727, O93256, P02533, P05781, P05783, P05784, P05786, P05787, P08727, P08728, P08730, P08776, P08777, P08778, P08802, P11679, P19001, P19012, P25030, P35900, P51856, Q04695, Q07427, Q10758, Q5BJY9, Q5K2N3, Q5K2N9, Q5K2P6, Q5R8S9, Q61414, Q63279, Q6IFU7, Q6IFU8, Q6IFV1

Diamond homologs: A1KQY9, A1L317, A1L595, A5A6M0, A5A6M5, A5A6N2, A5A6P3, A6BLY7, A6QQQ9, A7YWM2, B0LKP1, B1AQ75, O57607, O57611, O76009, O76013, O77727, O93256, P02533, P02534, P02535, P02537, P05781, P05783, P05784, P06394, P08727, P08728, P08730, P08777, P08778, P08779, P08802, P13645, P13646, P19001, P19012, P25030, P25690, P35527

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
CRH	“down-regulates quantity by repression”	KRT14	“transcriptional regulation”
“UV stress”	up-regulates	KRT14
EGFR	“up-regulates quantity by expression”	KRT14	“transcriptional regulation”
PRL	“up-regulates quantity by expression”	KRT14	“transcriptional regulation”
KRT14	“down-regulates activity”	TNFRSF1A	binding
KRT14	“down-regulates activity”	TRADD	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 113 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the cornified envelope	12	14.2×	2e-08
Regulation of RAS by GAPs	5	13.1×	8e-04
Macroautophagy	6	9.3×	8e-04
Keratinization	12	9.0×	2e-06
Cargo recognition for clathrin-mediated endocytosis	5	7.1×	7e-03
Neddylation	9	5.8×	6e-04

GO biological processes:

GO term	Partners	Fold	FDR
intermediate filament organization	14	35.1×	2e-15
keratinization	10	24.4×	4e-09
intrinsic apoptotic signaling pathway	6	22.4×	6e-05
mitophagy	6	19.9×	8e-05
autophagosome maturation	5	18.3×	1e-03
G1/S transition of mitotic cell cycle	7	14.6×	8e-05
autophagosome assembly	5	11.7×	7e-03
Ras protein signal transduction	5	10.7×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

292 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	53
Likely pathogenic	22
Uncertain significance	90
Likely benign	42
Benign	22

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1048024	NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter)	Pathogenic
1048025	NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg)	Pathogenic
1048026	NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln)	Pathogenic
1048027	NM_000526.5(KRT14):c.1274+5G>C	Pathogenic
1070613	NC_000017.10:g.(?39742562)(39767973_?)del	Pathogenic
1198508	NM_000526.5(KRT14):c.385T>C (p.Tyr129His)	Pathogenic
1321191	NM_000526.5(KRT14):c.1242_1259del (p.Tyr415_Glu420del)	Pathogenic
14612	NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)	Pathogenic
14613	NM_000526.5(KRT14):c.374G>A (p.Arg125His)	Pathogenic
14614	NM_000526.5(KRT14):c.431A>C (p.Glu144Ala)	Pathogenic
14616	NM_000526.5(KRT14):c.612T>A (p.Tyr204Ter)	Pathogenic
14617	NM_000526.5(KRT14):c.815T>G (p.Met272Arg)	Pathogenic
14619	NM_000526.5(KRT14):c.356T>C (p.Met119Thr)	Pathogenic
14620	NM_000526.5(KRT14):c.357G>A (p.Met119Ile)	Pathogenic
14621	NM_000526.5(KRT14):c.1243T>C (p.Tyr415His)	Pathogenic
14622	NM_000526.5(KRT14):c.1256T>A (p.Leu419Gln)	Pathogenic
14623	NM_000526.5(KRT14):c.1264G>A (p.Glu422Lys)	Pathogenic
14628	NM_000526.5(KRT14):c.368A>G (p.Asn123Ser)	Pathogenic
1526072	NM_000526.5(KRT14):c.766G>T (p.Glu256Ter)	Pathogenic
2036149	NM_000526.5(KRT14):c.484dup (p.Tyr162fs)	Pathogenic
2423204	NC_000017.10:g.(?39738787)(39739685_?)del	Pathogenic
2699329	NM_000526.5(KRT14):c.1120_1121insT (p.Gln374fs)	Pathogenic
2811999	NM_000526.5(KRT14):c.376C>G (p.Leu126Val)	Pathogenic
2851007	NM_000526.5(KRT14):c.368_369delinsGC (p.Asn123Ser)	Pathogenic
3340854	NM_000526.5(KRT14):c.1235T>C (p.Ile412Thr)	Pathogenic
4280327	NM_000526.5(KRT14):c.1225del (p.Glu409fs)	Pathogenic
503671	NM_000526.5(KRT14):c.1194del (p.Glu397_Tyr398insTer)	Pathogenic
66303	NM_000526.5(KRT14):c.1130T>C (p.Ile377Thr)	Pathogenic
66306	NM_000526.5(KRT14):c.1162C>T (p.Arg388Cys)	Pathogenic
66313	NM_000526.5(KRT14):c.1228C>T (p.Gln410Ter)	Pathogenic

SpliceAI

558 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41582529:GTCA:G	acceptor_gain	1.0000
17:41582530:TCA:T	acceptor_gain	1.0000
17:41582531:CAC:C	acceptor_gain	1.0000
17:41582533:C:CC	acceptor_gain	1.0000
17:41583087:GTCTT:G	donor_loss	1.0000
17:41583088:TCTTA:T	donor_loss	1.0000
17:41583089:CTTA:C	donor_loss	1.0000
17:41583090:TTA:T	donor_loss	1.0000
17:41583091:TA:T	donor_loss	1.0000
17:41583092:A:AC	donor_gain	1.0000
17:41583093:C:CC	donor_gain	1.0000
17:41583093:CCAT:C	donor_gain	1.0000
17:41583136:AGAGG:A	acceptor_gain	1.0000
17:41583137:GAGG:G	acceptor_gain	1.0000
17:41583138:AGG:A	acceptor_gain	1.0000
17:41583139:GG:G	acceptor_gain	1.0000
17:41583141:C:A	acceptor_loss	1.0000
17:41583141:C:CC	acceptor_gain	1.0000
17:41583143:G:C	acceptor_gain	1.0000
17:41583143:G:GC	acceptor_gain	1.0000
17:41583149:A:C	acceptor_gain	1.0000
17:41583229:A:AC	donor_gain	1.0000
17:41583230:C:CC	donor_gain	1.0000
17:41583230:CTCA:C	donor_gain	1.0000
17:41583231:TCA:T	donor_loss	1.0000
17:41583233:A:AC	donor_gain	1.0000
17:41583233:ACTGG:A	donor_loss	1.0000
17:41583234:C:CA	donor_gain	1.0000
17:41583234:CT:C	donor_gain	1.0000
17:41583234:CTG:C	donor_gain	1.0000

AlphaMissense

3105 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41583256:A:G	L418P	1.000
17:41583286:A:G	L408P	1.000
17:41586458:A:G	L126P	1.000
17:41586458:A:T	L126Q	1.000
17:41586470:A:G	L122P	1.000
17:41583262:C:G	R416P	0.999
17:41583266:A:G	Y415H	0.999
17:41583274:A:C	I412S	0.999
17:41583277:T:A	E411V	0.999
17:41583286:A:T	L408Q	0.999
17:41583294:C:A	K405N	0.999
17:41583294:C:G	K405N	0.999
17:41583307:A:G	L401P	0.999
17:41583565:A:G	S347P	0.999
17:41583570:A:G	L345P	0.999
17:41583582:A:G	L341P	0.999
17:41583666:A:G	L313P	0.999
17:41583769:G:C	F306L	0.999
17:41583769:G:T	F306L	0.999
17:41583771:A:G	F306L	0.999
17:41583783:C:G	A302P	0.999
17:41583791:C:G	R299P	0.999
17:41583804:C:G	A295P	0.999
17:41583824:C:G	R288P	0.999
17:41583825:G:T	R288S	0.999
17:41583836:A:G	L284P	0.999
17:41584339:A:G	L228P	0.999
17:41584393:A:G	L210P	0.999
17:41584413:C:A	K203N	0.999
17:41584413:C:G	K203N	0.999

dbSNP variants (sampled 300 via entrez): RS1000084886 (17:41585380 A>G), RS1000685808 (17:41587075 G>A), RS1000759499 (17:41588501 G>C), RS1001328499 (17:41586864 C>A), RS1001823135 (17:41582815 C>CT), RS1003087978 (17:41588819 A>C,G,T), RS1005202201 (17:41585699 A>G), RS1005442129 (17:41585464 T>C,G), RS1007487401 (17:41582082 C>T), RS1007554854 (17:41587372 C>A), RS1007791630 (17:41587157 C>G), RS1008613160 (17:41581786 G>A), RS1008794303 (17:41588590 A>C,G), RS1009323769 (17:41588567 C>A,T), RS1009639511 (17:41588278 G>A)

Disease associations

OMIM: gene MIM:148066 | disease phenotypes: MIM:131760, MIM:131800, MIM:131900, MIM:125595, MIM:601001, MIM:161000, MIM:270200

GenCC curated gene-disease

Disease	Classification	Inheritance
epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	Definitive	Autosomal recessive
epidermolysis bullosa simplex 1A, generalized severe	Definitive	Autosomal dominant
Naegeli-Franceschetti-Jadassohn syndrome	Definitive	Autosomal dominant
epidermolysis bullosa simplex	Definitive	Autosomal recessive
dermatopathia pigmentosa reticularis	Strong	Autosomal dominant
epidermolysis bullosa simplex 1C, localized	Strong	Autosomal dominant
epidermolysis bullosa simplex 1B, generalized intermediate	Strong	Autosomal dominant
epidermolysis bullosa	Strong	Autosomal dominant
epidermolysis bullosa simplex 2F, with mottled pigmentation	Supportive	Autosomal dominant

Mondo (10): epidermolysis bullosa simplex (MONDO:0017610), epidermolysis bullosa simplex 1A, generalized severe (MONDO:0007550), epidermolysis bullosa simplex 1C, localized (MONDO:0007551), epidermolysis bullosa simplex 1B, generalized intermediate (MONDO:0007554), dermatopathia pigmentosa reticularis (MONDO:0007445), epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (MONDO:0010976), Naegeli-Franceschetti-Jadassohn syndrome (MONDO:0008059), epidermolysis bullosa (MONDO:0006541), Sjogren-Larsson syndrome (MONDO:0010031), epidermolysis bullosa simplex 2F, with mottled pigmentation (MONDO:0007556)

Orphanet (8): Epidermolysis bullosa simplex (Orphanet:304), Autosomal dominant generalized epidermolysis bullosa simplex, severe form (Orphanet:79396), Localized epidermolysis bullosa simplex (Orphanet:79400), Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form (Orphanet:79399), Dermatopathia pigmentosa reticularis (Orphanet:86920), Autosomal recessive generalized epidermolysis bullosa simplex (Orphanet:89838), Naegeli-Franceschetti-Jadassohn syndrome (Orphanet:69087), Sjögren-Larsson syndrome (Orphanet:816)

HPO phenotypes

117 total (30 of 117 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000164	Abnormality of the dentition
HP:0000502	Abnormal conjunctiva morphology
HP:0000540	Hypermetropia
HP:0000613	Photophobia
HP:0000670	Carious teeth
HP:0000953	Hyperpigmentation of the skin
HP:0000958	Dry skin
HP:0000962	Hyperkeratosis
HP:0000966	Hypohidrosis
HP:0000970	Anhidrosis
HP:0000972	Palmoplantar hyperkeratosis
HP:0000975	Hyperhidrosis
HP:0000982	Palmoplantar keratoderma
HP:0000989	Pruritus
HP:0000992	Cutaneous photosensitivity
HP:0001010	Hypopigmentation of the skin
HP:0001030	Fragile skin
HP:0001034	Hypermelanotic macule
HP:0001056	Milia
HP:0001057	Aplasia cutis congenita
HP:0001070	Mottled pigmentation
HP:0001075	Atrophic scars
HP:0001220	Interphalangeal joint contracture of finger
HP:0001231	Abnormal fingernail morphology
HP:0001263	Global developmental delay
HP:0001363	Craniosynostosis
HP:0001508	Failure to thrive
HP:0001510	Growth delay

GWAS associations

0 associations (top):

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D004820	Epidermolysis Bullosa	C16.131.831.493; C16.320.850.275; C17.800.804.493; C17.800.827.275; C17.800.865.410
D016110	Epidermolysis Bullosa Simplex	C16.131.831.493.180; C16.320.850.275.180; C17.800.804.493.180; C17.800.827.275.180; C17.800.865.410.180
D016111	Sjogren-Larsson Syndrome	C16.131.831.512.723; C16.320.565.398.641.723; C16.320.850.820; C16.614.492.723; C17.800.428.333.723; C17.800.804.512.723; C17.800.827.820; C18.452.584.563.641.723; C18.452.648.398.641.723
C535374	Dermatopathia pigmentosa reticularis (supp.)
C563408	Epidermolysis Bullosa Simplex, Autosomal Recessive (supp.)
C535959	Epidermolysis bullosa simplex with mottled pigmentation (supp.)
C538331	Naegeli syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

60 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	6
Mustard Gas	increases cleavage, increases reaction, affects binding, decreases expression, increases alkylation (+1 more)	5
sodium arsenite	decreases expression, increases expression	4
Benzo(a)pyrene	decreases reaction, increases expression, affects methylation	3
Alitretinoin	decreases expression	2
Air Pollutants	increases abundance, increases expression, decreases expression	2
Plant Extracts	decreases expression, decreases reaction, affects cotreatment	2
Silicon Dioxide	affects secretion, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression, increases expression	2
Tretinoin	increases expression, decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
4-oxoretinoic acid	decreases expression	1
bisphenol A	decreases expression	1
glycidyl methacrylate	increases expression	1
potassium perchlorate	increases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects localization, decreases expression, increases expression, affects cotreatment	1
alpha-naphthoflavone	decreases expression, decreases reaction	1
2,3-pentanedione	increases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	increases expression	1
beta-lapachone	increases expression	1
arsenite	increases expression	1
phenyl isocyanate	affects binding	1
sulindac sulfide	increases expression	1
cupric chloride	decreases expression, increases expression	1
cadmium sulfate	increases expression	1
4-((3-bromophenyl)amino)-6,7-dimethoxyquinazoline	decreases expression, affects cotreatment	1
chloropicrin	decreases expression	1
AG 1879	decreases reaction, decreases expression	1

Cellosaurus cell lines

5 cell lines: 4 induced pluripotent stem cell, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1CC	Abcam A-431 KRT14 KO	Cancer cell line	Female
CVCL_C0GA	UQACi002-A	Induced pluripotent stem cell	Male
CVCL_C0GB	UQACi005-A	Induced pluripotent stem cell	Female
CVCL_C0GC	UQACi007-A	Induced pluripotent stem cell	Female
CVCL_YC63	UQACi001-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

79 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00336154	PHASE4	WITHDRAWN	Study to Evaluate the Efficacy of Tetracycline in Epidermolysis Bullosa
NCT01619670	PHASE4	TERMINATED	A Observational Study to Evaluate Apligraf(R) in Nonhealing Wounds of Subjects With Epidermolysis Bullosa
NCT07240649	PHASE4	NOT_YET_RECRUITING	Outcomes From Hyperbaric Oxygen (HBO2) Treatment for Emerging Indications
NCT07596927	PHASE4	ACTIVE_NOT_RECRUITING	Curcumin-Based Photodynamic Therapy in Epidermolysis Bullosa: Wound Healing, Quality of Life, and Salivary Biomarkers
NCT01340235	PHASE3	UNKNOWN	Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin
NCT01749306	PHASE3	TERMINATED	A Study of the Efficacy and Safety of ABH001 in the Treatment of Patients With Epidermolysis Bullosa Who Have Wounds That Are Not Healing
NCT02384460	PHASE3	COMPLETED	ESSENCE Study: Efficacy and Safety of SD-101 Cream in Participants With Epidermolysis Bullosa
NCT02670330	PHASE3	TERMINATED	Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis Bullosa
NCT03068780	PHASE3	COMPLETED	Phase III Efficacy and Safety Study of Oleogel-S10 in Epidermolysis Bullosa
NCT03928093	PHASE3	COMPLETED	Pregabalin Treatment for RDEB Pain and Itch
NCT04227106	PHASE3	COMPLETED	Phase 3, Open-label Clinical Trial of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB)
NCT05464381	PHASE3	ACTIVE_NOT_RECRUITING	Allogeneic ABCB5-positive Dermal Mesenchymal Stromal Cells for Treatment of Epidermolysis Bullosa (Phase III, Cross-over)
NCT05725018	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3b Study for the Treatment of Dystrophic Epidermolysis Bullosa (DEB) in New and Previously EB-101 Treated Patients
NCT05838092	PHASE3	ACTIVE_NOT_RECRUITING	Allogeneic ABCB5-positive Dermal Mesenchymal Stromal Cells for Treatment of Epidermolysis Bullosa (Phase III)
NCT06917690	PHASE3	RECRUITING	A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
NCT07482787	PHASE3	NOT_YET_RECRUITING	Efficacy and Safety Study to Evaluate SD-101 in Epidermolysis Bullosa
NCT07482813	PHASE3	NOT_YET_RECRUITING	An Open Label Extension Safety Study to Evaluate SD-101 in Epidermolysis Bullosa
NCT03445650	PHASE3	COMPLETED	RESET Trial - Part 1 - A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS)
NCT02960997	PHASE2	COMPLETED	Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
NCT03016715	PHASE2	UNKNOWN	Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
NCT00311766	PHASE2	TERMINATED	A Phase 2 Study on Effect of Thymosin Beta 4 on Wound Healing in Patients With Epidermolysis Bullosa
NCT00380640	PHASE2	COMPLETED	The Efficacy of Trimethoprim in Wound Healing of Patients With Epidermolysis Bullosa
NCT00825565	PHASE2	COMPLETED	Study of Alwextin® Cream in Treating Epidermolysis Bullosa
NCT00987142	PHASE2	COMPLETED	Trial To Assess Efficacy Of A Chimeric Skin In Patients With Epidermolysys Bullosa
NCT02014376	PHASE2	COMPLETED	Study of Effectiveness and Safety of SD-101 in Participants With Epidermolysis Bullosa
NCT02090283	PHASE2	TERMINATED	Open-Label Extension Study to Evaluate the Safety of SD-101 Cream in Participants With Epidermolysis Bullosa
NCT02582775	PHASE2	COMPLETED	MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs
NCT02654483	PHASE2	COMPLETED	Neurokinin-1 Receptor Antagonist for the Treatment of Itch in EB Patients
NCT03389308	PHASE2	COMPLETED	Long Term Open-label Study Evaluating Safety of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex
NCT03836001	PHASE2	COMPLETED	A Neurokinin-1 Receptor Antagonist for the Treatment of Pruritus in Patients With Epidermolysis Bullosa
NCT05288478	PHASE2	UNKNOWN	Dose-ranging Study of Dentoxol® Mouthrinse for Managing Oral Symptoms in People With Epidermolysis Bullosa.
NCT06594393	PHASE2	RECRUITING	A Phase 2 Study of TCP-25 Gel in Patients With Epidermolysis Bullosa, STEP-study
NCT00936533	PHASE2	UNKNOWN	Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita
NCT02470689	PHASE2	UNKNOWN	Diacerin for the Treatment of Epidermolysis Bullosa Simplex
NCT03154333	PHASE2	TERMINATED	Safety and Efficacy of Diacerein 1% Ointment for Subjects With Epidermolysis Bullosa Simplex (EBS)
NCT04908215	PHASE2	COMPLETED	INM-755 (Cannabinol) Cream for Treatment of Epidermolysis Bullosa
NCT06136403	PHASE2	RECRUITING	A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
NCT06509984	PHASE2	RECRUITING	A 20-Week Study Assessing the Efficacy of Apremilast in Patients with EB Simplex Generalized
NCT07027345	PHASE2	RECRUITING	A Phase II, Placebo Controlled, Clinical Trial of Topical TolaSure Targeting Aggregated Mutant Keratin in Epidermolysis Bullosa Simplex
NCT02402309	PHASE2	COMPLETED	A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS)