KRT5

Summary

KRT5 (keratin 5, HGNC:6442) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cytoskeletal 5 (P13647). Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress.

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.

Source: NCBI Gene 3852 — RefSeq curated summary.

At a glance

• Gene–disease (curated): epidermolysis bullosa simplex 1A, generalized severe (Definitive, GenCC) — +9 more curated relationships
• GWAS associations: 10
• Clinical variants (ClinVar): 392 total — 58 pathogenic, 27 likely-pathogenic
• Phenotypes (HPO): 121
• MANE Select transcript: NM_000424

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6442
Approved symbol	KRT5
Name	keratin 5
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	KRT5A, CK-5
Ensembl gene	ENSG00000186081
Ensembl biotype	protein_coding
OMIM	148040
Entrez	3852

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding, 5 retained_intron

ENST00000252242, ENST00000546577, ENST00000547890, ENST00000548409, ENST00000549420, ENST00000549511, ENST00000551013, ENST00000551188, ENST00000551275, ENST00000552629, ENST00000552952

RefSeq mRNA: 1 — MANE Select: NM_000424 NM_000424

CCDS: CCDS8830

Canonical transcript exons

ENST00000252242 — 9 exons

Exon	Start	End
ENSE00001060878	52514575	52515240
ENSE00002408701	52519742	52520394
ENSE00003514770	52517590	52517754
ENSE00003532733	52515798	52515832
ENSE00003566328	52518103	52518163
ENSE00003582821	52518946	52519160
ENSE00003590565	52517107	52517232
ENSE00003605077	52517897	52517992
ENSE00003615991	52516637	52516857

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 99.91.

FANTOM5 (CAGE): breadth broad, TPM avg 313.8082 / max 27697.1546, expressed in 272 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131094	311.2060	255
131086	0.3936	84
131088	0.3911	86
131084	0.3700	83
131085	0.3623	80
131093	0.3453	84
131089	0.3027	77
131092	0.2181	73
131087	0.0980	48
206717	0.0589	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.91	gold quality
pharyngeal mucosa	UBERON:0000355	99.89	gold quality
gingiva	UBERON:0001828	99.89	gold quality
gingival epithelium	UBERON:0001949	99.88	gold quality
nipple	UBERON:0002030	99.87	gold quality
skin of abdomen	UBERON:0001416	99.83	gold quality
upper arm skin	UBERON:0004263	99.81	gold quality
upper leg skin	UBERON:0004262	99.80	gold quality
tongue squamous epithelium	UBERON:0006919	99.78	gold quality
mammalian vulva	UBERON:0000997	99.76	gold quality
penis	UBERON:0000989	99.73	gold quality
zone of skin	UBERON:0000014	99.72	gold quality
skin of hip	UBERON:0001554	99.72	gold quality
hair follicle	UBERON:0002073	99.70	gold quality
skin of leg	UBERON:0001511	99.65	gold quality
body of tongue	UBERON:0011876	99.65	gold quality
oral cavity	UBERON:0000167	99.59	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.52	gold quality
esophagus mucosa	UBERON:0002469	99.49	gold quality
esophagus squamous epithelium	UBERON:0006920	99.45	gold quality
tongue	UBERON:0001723	99.42	gold quality
squamous epithelium	UBERON:0006914	99.34	gold quality
trachea	UBERON:0003126	99.22	gold quality
cervix epithelium	UBERON:0004801	99.08	gold quality
superior surface of tongue	UBERON:0007371	98.99	gold quality
palpebral conjunctiva	UBERON:0001812	98.96	gold quality
mouth mucosa	UBERON:0003729	98.84	gold quality
periodontal ligament	UBERON:0008266	98.84	gold quality
tonsil	UBERON:0002372	98.77	gold quality
minor salivary gland	UBERON:0001830	98.68	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	14545.34
E-HCAD-1	yes	6752.43
E-MTAB-10855	yes	4725.68
E-CURD-114	yes	3938.81
E-MTAB-9841	yes	2192.66
E-MTAB-10885	yes	1844.72
E-CURD-79	yes	895.79
E-HCAD-38	yes	858.05
E-HCAD-15	yes	804.43
E-ANND-5	yes	583.68
E-MTAB-10596	no	9040.46
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, BRCA1, CTNNB1, DLX4, EGR1, ELF1, ESR1, GRHL3, NR4A3, PAX1, PRL, RARG, SMAD7, SP1, TFAP2A, TP63

miRNA regulators (miRDB)

44 targeting KRT5, 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-656-3P	100.00	72.15	2788
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-8061	99.63	69.44	1411
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-3122	99.50	66.33	821
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-4505	99.27	67.81	2678

Literature-anchored findings (GeneRIF, showing 40)

• stutter mutation plays an important role in the organization of the keratin intermediate filament network (PMID:11973334)
• expression in breast cancer cells was associated with a poor clinical outcome (PMID:12466114)
• Four novel KRT5 mutations identified two of which were outside of the KRT5 hotspot domains in 9 Epidermolysis bullosa simplex patients. (PMID:12655565)
• a useful adjunct marker in distinguishing cutaneous adnexal neoplasms from metastatic lesions (PMID:15618924)
• a mutation in the nonhelical tail domain in type II keratin 5 may have a role in cell fragility in epidermolysis bullosa simplex (PMID:15647384)
• many cases result from de novo mutations in KRT5 and KRT14 genes in epidermolysis bullosa simplex (PMID:16098032)
• loss of p63 or CK5/6 was associated with features of aggressive tumors, and lack of CK5/6 was significantly associated with reduced survival in multivariate analysis (PMID:16152605)
• Loss-of-function mutations in the keratin 5 gene (KRT5) in all affected family members and in six unrelated patients with Dowling-Degos disease were identified. (PMID:16465624)
• Novel mutations within KRT5 are associated with epidermolysis bullosa simplex. (PMID:16786515)
• analysis of keratin 5 and keratin 14 mutations in epidermolysis bullosa simplex in Scottish patients (PMID:17039244)
• Missence mutation is a causse of epidermolysis bullosa simplex in a 3-year old boy. (PMID:17229601)
• A novel autosomal partially dominant mutation designated G476D in the KRT5 gene causes epidermyolysis bullosa simplex Weber-Cockayne type. (PMID:17549391)
• CK5/6 and/or EGFR expressing tumor types have a persistently poorer prognosis over the longer term. (PMID:17650314)
• reports 2 novel mutations in keratin 5 in patients with epidermolysis bullosa complex with an unusual genotype-phenotype correlation (PMID:17855059)
• Existence of Ck5-positive cells that differentiate to the glandular or myoepithelial breast cell lineage via intermediary cells. (PMID:18035671)
• Cytokeratin markers (CK5/6 and K903) are useful in differentiating squamous cell carcinoma from adenocarcinoma when malignant mesothelioma is already excluded (PMID:18064689)
• 17% of invasive lobular carcinomas express CK5/6, and that CK5/6[+] cases are more likely to be ER[-] and have a high modified Scarff-Bloom-Richardson histologic grade (PMID:18261623)
• Cytokeratin 5/6 can be a useful adjunct in cases with ductal hyperplasia but not in columnar cell lesions, on breast core biopsies (PMID:18499686)
• senescence of primary NHP cells expressing progenitor cell markers CD44, alpha2beta1, p63, hTERT, and CK5/CK18, involves loss of telomerase expression, up-regulation of p16, and activation of p53. (PMID:18662989)
• The high reactivity rate in pulmonary adenocarcinomas disagrees with the results obtained with histologic sections from solid tumor tissue, and CK5/6 seems to be of very limited value as an additional marker in effusion cytology. (PMID:18833821)
• Positive expression of CK5/6 or CK17 in patients with triple-negative breast cancer is correlated with poor prognosis, high grade differentiation and axillary lymph node metastasis. (PMID:19102940)
• CK5/6 is a determinant of basaloid breast cancer. Association between CK5/6 positivity and lymph node involvement was statistically significant. (PMID:19156550)
• A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex. (PMID:19220453)
• Cytokines involved in the recruitment, maturation, and migration of Langerhans cells in the epidermis, are upregulated in the skin of K5(-/-) and epidermolysis bullosa simplex patients. (PMID:19267394)
• Recognition of adenosquamous carcinoma is important for appropriate therapy, and stains for p63 and cytokeratin 5/6 may be helpful in ruling out metastatic adenocarcinoma. (PMID:19278431)
• Positive staining for CK5/6 or CK17 was associated with a worse prognosis, high tumor grade and positive axillary lymph nodes. (PMID:19366057)
• the percentage of lung carcinoma patients remaining unclassifiable by TTF-1/TP63 was twice that of the five-antibody (TRIM29, CEACAM5, SLC7A5, MUC1, and CK5/6) test (PMID:19430419)
• 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)
• cytokeratin 5 may have a role in preventing progression of disease after lung transplantation (PMID:19529775)
• All prostate cancer specimens lacked CK5/6 staining (PMID:19605815)
• 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 K5 protein. (PMID:19651890)
• Patterns and extent of ER and CK5 staining, when used together, are valuable adjunct stains to differentiate usual duct hyperplasia from atypical proliferations within papillary lesions on breast core biopsy. (PMID:19675450)
• E478K mutation in exon 5 in Dowling-Meara type epidermolysis bullosa (PMID:19691749)
• Studies show that the intrinsic molecular signature of five markers, ER, PR, HER-2, CK 5/6, and EGFR, demonstrated specificity of 100% and sensitivity of 75%, compared with classification by gene expression profiling. (PMID:19720911)
• novel heterozygous pathogenic missense mutation (KRT5:c.596A>T, p.Lys199Met (PMID:19797037)
• keratin mutant cells also show a resistance to apoptosis following mechanical stress that is reversed by inhibiting ERK (PMID:19847192)
• Overexpression of KRT5 is associated with basal-like phenotype in breast cancer. (PMID:19882246)
• 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)
• One novel missense mutation was identified in a patient with sporadic epidermolysis bullosa simplex (PMID:20055872)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krt5	ENSMUSG00000061527
mus_musculus	Gm5478	ENSMUSG00000095241
rattus_norvegicus	Krt5	ENSRNOG00000050420

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 II cytoskeletal 5 — P13647 (reviewed: P13647)

Alternative names: 58 kDa cytokeratin, Cytokeratin-5, Keratin-5, Type-II keratin Kb5

All UniProt accessions (6): P13647, F8VU69, F8VV57, F8W0C6, H0YI76, H0YIN9

UniProt curated annotations — full annotation on UniProt →

Function. Required for the formation of keratin intermediate filaments in the basal epidermis and maintenance of the skin barrier in response to mechanical stress. Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localization in keratinocytes.

Subunit / interactions. Heterodimer of a type I and a type II keratin. Heterodimer with type I keratin KRT25 leading to the formation of keratin intermediate filament (KIF) network. Forms a heterodimer (via 2B domains) with KRT14 (via 2B domains). Interacts with PLEC isoform 1C, when in a heterodimer with KRT14. Interacts with TCHP. Interacts with EPPK1. Interacts with AMELX. Interacts with PKP1 (via N-terminus) and PKP2.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in corneal epithelium (at protein level). Expressed in keratinocytes (at protein level).

Post-translational modifications. Phosphorylated by CDK1, AURKB and Rho-kinase, phosphorylation is regulated by the cell cycle. Thr-24 phosphorylation, mediated by CDK1, peaks during prometaphase or metaphase cells with phosphorylated filamentous structures evident throughout the cytoplasm during early mitosis. CDK1 phosphorylates Thr-24 in mitotic cells at the site of injury. O-glycosylated.

Disease relevance. Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] 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. EBS2A is an autosomal dominant, severe form characterized by extensive intraepidermal blistering from the time of birth with herpetiform marginal spreading and central healing. Oral mucosal involvement, nail dystrophy, onychogryposis, formation of milia, and palmoplantar hyperkeratosis are common features. The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] 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. EBS2B is an autosomal dominant form characterized by generalized blistering manifesting 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 2C, localized (EBS2C) [MIM:619594] 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. EBS2C 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 2D, generalized, intermediate or severe, autosomal recessive (EBS2D) [MIM:619599] 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. EBS2D is an autosomal recessive form characterized by widespread intraepidermal skin blistering and erosions from birth. Death may occur in the neonatal period. The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa simplex 2E, with migratory circinate erythema (EBS2E) [MIM:609352] 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. EBS2E is an autosomal dominant form in which multiple vesicles are present from birth onward and acquire over time a typical migratory circinate pattern on an erythematous background. Postinflammatory hyperpigmentation develops gradually and may have a mottled pattern. The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa simplex 2F, with mottled pigmentation (EBS2F) [MIM:131960] 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. EBS2F is an autosomal dominant form characterized by generalized skin blistering of intermediate severity beginning at birth, with mottled or reticulate pigmentation developing gradually. Focal keratoses of palms and soles and dystrophic, thickened nails develop over time. The disease is caused by variants affecting the gene represented in this entry. Dowling-Degos disease 1 (DDD1) [MIM:179850] An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. 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_000415* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003054	Keratin_II	Family
IPR018039	IF_conserved	Conserved_site
IPR032444	Keratin_2_head	Domain
IPR039008	IF_rod_dom	Domain

Pfam: PF00038, PF16208

UniProt features (127 total): sequence variant 87, modified residue 13, region of interest 9, mutagenesis site 7, sequence conflict 5, compositionally biased region 2, chain 1, domain 1, helix 1, site 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-P13647-F1	68.86	0.44

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): 419 (stutter)

Post-translational modifications (13): 5, 8, 16, 21, 24, 26, 36, 50, 64, 71, 75, 82, 151

Mutagenesis-validated functional residues (7):

Position	Phenotype
399	increase in keratin-positive aggregates and keratin intermediate filament networks that are very thin and sparse with sh
411	no effect on interaction with krt14 or keratin intermediate filament networks.
412	no effect on interaction with krt14 or keratin intermediate filament networks.
422	no effect on interaction with krt14 or keratin intermediate filament networks.
437	no effect on interaction with krt14 or keratin intermediate filament networks.
440	no effect on interaction with krt14 or keratin intermediate filament networks.
444	no effect on interaction with krt14 or keratin intermediate filament networks.

Function

Pathways and Gene Ontology

Reactome pathways

11 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-9927418	Developmental Lineage of Mammary Gland Luminal Epithelial Cells
R-HSA-9927432	Developmental Lineage of Mammary Gland Myoepithelial Cells
R-HSA-9938206	Developmental Lineage of Mammary Stem 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: 386 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, MACLACHLAN_BRCA1_TARGETS_DN, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, JAEGER_METASTASIS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, PID_REG_GR_PATHWAY, CHANDRAN_METASTASIS_DN, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, RICKMAN_METASTASIS_DN

GO Biological Process (7): epidermis development (GO:0008544), response to mechanical stimulus (GO:0009612), regulation of cell migration (GO:0030334), keratinization (GO:0031424), regulation of protein localization (GO:0032880), intermediate filament polymerization (GO:0045107), intermediate filament organization (GO:0045109)

GO Molecular Function (4): structural constituent of cytoskeleton (GO:0005200), structural constituent of skin epidermis (GO:0030280), scaffold protein binding (GO:0097110), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), intermediate filament (GO:0005882), membrane (GO:0016020), keratin filament (GO:0045095), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Developmental Lineages of the Mammary Gland	3
Developmental Biology	2
Cell junction organization	1
Keratinization	1
Developmental Cell Lineages of the Integumentary System	1
Cell-Cell communication	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
structural molecule activity	2
tissue development	1
response to external stimulus	1
response to abiotic stimulus	1
cell migration	1
regulation of cell motility	1
keratinocyte differentiation	1
multicellular organismal process	1
intracellular protein localization	1
regulation of localization	1
intermediate filament polymerization or depolymerization	1
protein polymerization	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
cytoskeleton	1
cytoskeleton organization	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
intermediate filament	1
extracellular vesicle	1

Protein interactions and networks

STRING

3038 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT5	KRT14	P02533	986
KRT5	EGFR	P00533	842
KRT5	LIAT1	Q6ZQX7	824
KRT5	NAPSA	O96009	793
KRT5	ERBB2	P04626	791
KRT5	LORICRIN	P23490	787
KRT5	CALB2	P22676	774
KRT5	PGR	P06401	773
KRT5	CEACAM5	P06731	753
KRT5	PLEC	Q15149	748
KRT5	NKX2-1	P43699	728
KRT5	AMACR	Q9UHK6	723
KRT5	ESR1	P03372	720
KRT5	SCGB1A1	P11684	715
KRT5	FLG	P20930	707

IntAct

139 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
KRT5	KRT38	psi-mi:“MI:0915”(physical association)	0.720
KRT5	KRT15	psi-mi:“MI:0915”(physical association)	0.720
KRT31	KRT5	psi-mi:“MI:0915”(physical association)	0.720
KRT40	KRT5	psi-mi:“MI:0915”(physical association)	0.720
KRT38	KRT5	psi-mi:“MI:0915”(physical association)	0.720
KRT5	KRT31	psi-mi:“MI:0915”(physical association)	0.720
KRT5	KRT40	psi-mi:“MI:0915”(physical association)	0.720
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
KRT5	KIFC3	psi-mi:“MI:0915”(physical association)	0.560
KIFC3	KRT5	psi-mi:“MI:0915”(physical association)	0.560
KRT5	KRT25	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (229): KRT5 (Affinity Capture-MS), KRT5 (Two-hybrid), KRT15 (Two-hybrid), KRT31 (Two-hybrid), KRT38 (Two-hybrid), KRT40 (Two-hybrid), KRT5 (Affinity Capture-MS), KRT5 (Affinity Capture-MS), KRT5 (Affinity Capture-MS), KRT5 (Affinity Capture-MS), KRT5 (Affinity Capture-MS), KRT5 (Affinity Capture-MS), KRT10 (Co-fractionation), KRT16 (Co-fractionation), KRT5 (Co-fractionation)

ESM2 similar proteins: A5A6M6, A5A6M8, O95678, P02535, P02537, P02538, P04104, P04259, P04264, P06394, P07744, P08776, P12035, P13645, P13647, P16878, P18520, P19013, P35527, P35908, P48668, P50446, Q01546, Q08D91, Q148H7, Q29426, Q2M2I5, Q3TTY5, Q3UV17, Q4FZU2, Q5XQN5, Q6EIY9, Q6EIZ0, Q6EIZ1, Q6IFW6, Q6IFZ6, Q6IG00, Q6IG01, Q6IG02, Q6IG05

Diamond homologs: A0A125S9M6, A0JND2, A4FUZ0, A5A6M8, A6NCN2, A7YWK3, O43790, P02542, P02545, P02547, P02548, P04104, P04260, P04261, P04262, P04263, P07196, P07744, P08551, P08928, P09010, P10999, P12035, P12036, P13647, P13648, P15241, P16884, P19013, P19246, P19527, P21619, P21910, P25691, P35908, P48671, P48672, P48678, P48679, P78385

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PRL	“up-regulates quantity by expression”	KRT5	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 101 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
Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin	5	19.6×	2e-04
Formation of the cornified envelope	14	17.3×	2e-11
Regulation of RAS by GAPs	5	13.6×	6e-04
Keratinization	14	11.0×	6e-09
Macroautophagy	6	9.8×	6e-04
Cargo recognition for clathrin-mediated endocytosis	5	7.4×	4e-03
Neddylation	11	7.3×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	12	48.5×	7e-15
intermediate filament organization	13	36.8×	7e-15
intrinsic apoptotic signaling pathway	6	25.3×	2e-05
epithelial cell differentiation	10	20.6×	1e-08
autophagosome maturation	5	20.6×	4e-04
mitophagy	5	18.7×	5e-04
autophagosome assembly	6	15.9×	3e-04
G1/S transition of mitotic cell cycle	5	11.8×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	58
Likely pathogenic	27
Uncertain significance	140
Likely benign	34
Benign	32

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1047955	NM_000424.4(KRT5):c.556-16C>G	Pathogenic
1047989	NM_000424.4(KRT5):c.771delG	Pathogenic
1047990	NM_000424.4(KRT5):c.961A>C (p.Thr321Pro)	Pathogenic
1194325	NM_000424.4(KRT5):c.1438A>T (p.Arg480Ter)	Pathogenic
1302022	NM_000424.4(KRT5):c.472G>A (p.Asp158Asn)	Pathogenic
1302023	NM_000424.4(KRT5):c.1440-1G>A	Pathogenic
1339348	NM_000424.4(KRT5):c.1638_1641del (p.Ser547fs)	Pathogenic
1339349	NM_000424.4(KRT5):c.1321_1332del (p.Lys441_Gln444del)	Pathogenic
1339350	NM_000424.4(KRT5):c.1650del (p.Ser551fs)	Pathogenic
14638	NM_000424.4(KRT5):c.1424A>G (p.Glu475Gly)	Pathogenic
14639	NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro)	Pathogenic
14640	NM_000424.4(KRT5):c.482T>G (p.Ile161Ser)	Pathogenic
14641	NM_000424.4(KRT5):c.980T>C (p.Met327Thr)	Pathogenic
14642	NM_000424.4(KRT5):c.987C>A (p.Asn329Lys)	Pathogenic
14643	NM_000424.4(KRT5):c.519G>C (p.Lys173Asn)	Pathogenic
14644	NM_000424.4(KRT5):c.579C>G (p.Asn193Lys)	Pathogenic
14645	NM_000424.4(KRT5):c.523C>T (p.Leu175Phe)	Pathogenic
14646	NM_000424.4(KRT5):c.20T>C (p.Val7Ala)	Pathogenic
14647	NM_000424.4(KRT5):c.14C>A (p.Ser5Ter)	Pathogenic
14648	NM_000424.4(KRT5):c.74C>T (p.Pro25Leu)	Pathogenic
14650	NM_000424.4(KRT5):c.541T>C (p.Ser181Pro)	Pathogenic
14652	NM_000424.4(KRT5):c.556G>T (p.Val186Leu)	Pathogenic
14653	NM_000424.4(KRT5):c.1429G>T (p.Glu477Ter)	Pathogenic
14654	NM_000424.4(KRT5):c.1414A>T (p.Lys472Ter)	Pathogenic
14655	NM_000424.4(KRT5):c.1649del (p.Gly550fs)	Pathogenic
14657	NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)	Pathogenic
1800552	NM_000424.4(KRT5):c.1408T>C (p.Tyr470His)	Pathogenic
21174	NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)	Pathogenic
2581743	NM_000424.4(KRT5):c.528C>A (p.Asn176Lys)	Pathogenic
265218	NM_000424.4(KRT5):c.555+1G>A	Pathogenic

SpliceAI

679 predictions. Top by Δscore:

Variant	Effect	Δscore
12:52515241:C:CC	acceptor_gain	1.0000
12:52515796:A:AC	donor_gain	1.0000
12:52515797:C:CA	donor_gain	1.0000
12:52515833:C:CC	acceptor_gain	1.0000
12:52516633:TCA:T	donor_loss	1.0000
12:52516634:CA:C	donor_loss	1.0000
12:52516635:A:AC	donor_gain	1.0000
12:52516635:ACCTG:A	donor_gain	1.0000
12:52516636:C:A	donor_loss	1.0000
12:52516636:C:CC	donor_gain	1.0000
12:52516636:CCTG:C	donor_gain	1.0000
12:52516636:CCTGC:C	donor_gain	1.0000
12:52516853:GCGCA:G	acceptor_gain	1.0000
12:52516854:CGCA:C	acceptor_gain	1.0000
12:52516854:CGCAC:C	acceptor_gain	1.0000
12:52516855:GCA:G	acceptor_gain	1.0000
12:52516856:CA:C	acceptor_gain	1.0000
12:52516856:CAC:C	acceptor_gain	1.0000
12:52516858:C:CC	acceptor_gain	1.0000
12:52516861:C:CT	acceptor_gain	1.0000
12:52516862:A:T	acceptor_gain	1.0000
12:52516864:A:AC	acceptor_gain	1.0000
12:52516864:A:C	acceptor_gain	1.0000
12:52517103:CTA:C	donor_loss	1.0000
12:52517105:A:AT	donor_loss	1.0000
12:52517106:C:CT	donor_loss	1.0000
12:52517229:CATA:C	acceptor_gain	1.0000
12:52517230:ATA:A	acceptor_gain	1.0000
12:52517231:TA:T	acceptor_gain	1.0000
12:52517232:ACTGA:A	acceptor_loss	1.0000

AlphaMissense

3876 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:52516688:A:G	L463P	1.000
12:52516827:C:G	A417P	1.000
12:52517189:A:G	L379P	1.000
12:52517222:A:G	L368P	1.000
12:52517613:C:G	A357P	1.000
12:52517633:G:T	A350D	1.000
12:52517634:C:G	A350P	1.000
12:52517986:C:G	D280H	1.000
12:52518106:C:A	K276N	1.000
12:52518106:C:G	K276N	1.000
12:52518108:T:C	K276E	1.000
12:52518110:A:G	L275P	1.000
12:52518118:A:C	F272L	1.000
12:52518118:A:T	F272L	1.000
12:52518119:A:G	F272S	1.000
12:52518120:A:G	F272L	1.000
12:52518128:T:A	E269V	1.000
12:52518132:C:G	A268P	1.000
12:52518140:C:G	R265P	1.000
12:52518141:G:T	R265S	1.000
12:52519129:A:G	L196P	1.000
12:52519150:A:G	L189P	1.000
12:52519749:A:T	I183N	1.000
12:52519758:G:T	A180D	1.000
12:52519760:A:C	F179L	1.000
12:52519760:A:T	F179L	1.000
12:52519761:A:C	F179C	1.000
12:52519761:A:G	F179S	1.000
12:52519762:A:G	F179L	1.000
12:52519769:G:C	N176K	1.000

dbSNP variants (sampled 300 via entrez): RS1000611681 (12:52517537 T>C), RS1000639071 (12:52522198 G>T), RS1000671670 (12:52522048 A>C), RS1000913193 (12:52516369 G>A), RS1001988561 (12:52515311 T>C), RS1002474985 (12:52514770 C>G,T), RS1003252770 (12:52521356 T>C), RS1003421862 (12:52516424 C>G), RS1003961421 (12:52521156 G>C), RS1004311952 (12:52521304 T>C,G), RS1006252616 (12:52522197 T>A,G), RS1006432596 (12:52517213 G>A), RS1006600257 (12:52514352 A>T), RS1006999811 (12:52514506 A>G), RS1007066773 (12:52514151 G>A)

Disease associations

OMIM: gene MIM:148040 | disease phenotypes: MIM:131760, MIM:609352, MIM:619555, MIM:619588, MIM:131800, MIM:619594, MIM:131900, MIM:131960, MIM:601001, MIM:179850, MIM:619599

GenCC curated gene-disease

Disease	Classification	Inheritance
epidermolysis bullosa simplex 1A, generalized severe	Definitive	Autosomal dominant
epidermolysis bullosa simplex 2F, with mottled pigmentation	Definitive	Autosomal dominant
Dowling-Degos disease	Definitive	Autosomal dominant
Dowling-Degos disease 1	Strong	Autosomal dominant
epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive	Strong	Autosomal recessive
epidermolysis bullosa simplex 1C, localized	Strong	Autosomal dominant
epidermolysis bullosa simplex 1B, generalized intermediate	Strong	Autosomal dominant
epidermolysis bullosa simplex 2B, generalized intermediate	Strong	Autosomal dominant
epidermolysis bullosa	Strong	Autosomal dominant
epidermolysis bullosa simplex 2E, with migratory circinate erythema	Supportive	Autosomal dominant

Mondo (14): epidermolysis bullosa simplex (MONDO:0017610), epidermolysis bullosa simplex 1A, generalized severe (MONDO:0007550), epidermolysis bullosa simplex 2E, with migratory circinate erythema (MONDO:0012258), epidermolysis bullosa simplex 2A, generalized severe (MONDO:0030489), epidermolysis bullosa simplex 2B, generalized intermediate (MONDO:0030525), epidermolysis bullosa simplex 1C, localized (MONDO:0007551), epidermolysis bullosa simplex 2C, localized (MONDO:0030527), epidermolysis bullosa simplex 1B, generalized intermediate (MONDO:0007554), epidermolysis bullosa simplex 2F, with mottled pigmentation (MONDO:0007556), epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (MONDO:0010976), Dowling-Degos disease 1 (MONDO:0024534), epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive (MONDO:0030535), epidermolysis bullosa (MONDO:0006541), Dowling-Degos disease (MONDO:0008371)

Orphanet (8): Epidermolysis bullosa simplex (Orphanet:304), Autosomal dominant generalized epidermolysis bullosa simplex, severe form (Orphanet:79396), Epidermolysis bullosa simplex with circinate migratory erythema (Orphanet:158681), Localized epidermolysis bullosa simplex (Orphanet:79400), Dowling-Degos disease (Orphanet:79145), Epidermolysis bullosa simplex with mottled pigmentation (Orphanet:79397), Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form (Orphanet:79399), Autosomal recessive generalized epidermolysis bullosa simplex (Orphanet:89838)

HPO phenotypes

121 total (30 of 121 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000164	Abnormality of the dentition
HP:0000365	Hearing impairment
HP:0000464	Abnormality of the neck
HP:0000478	Abnormality of the eye
HP:0000540	Hypermetropia
HP:0000613	Photophobia
HP:0000768	Pectus carinatum
HP:0000953	Hyperpigmentation of the skin
HP:0000962	Hyperkeratosis
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:0001036	Parakeratosis
HP:0001056	Milia
HP:0001057	Aplasia cutis congenita
HP:0001070	Mottled pigmentation
HP:0001075	Atrophic scars
HP:0001155	Abnormality of the hand
HP:0001231	Abnormal fingernail morphology
HP:0001263	Global developmental delay
HP:0001363	Craniosynostosis
HP:0001369	Arthritis
HP:0001508	Failure to thrive

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002331_6	Basal cell carcinoma	3.000000e-06
GCST002842_4	Basal cell carcinoma	9.000000e-09
GCST003726_17	Basal cell carcinoma	1.000000e-15
GCST005896_69	Non-melanoma skin cancer	2.000000e-12
GCST008870_73	Keratinocyte cancer (MTAG)	2.000000e-23
GCST008870_79	Keratinocyte cancer (MTAG)	2.000000e-32
GCST008871_51	Basal cell carcinoma	2.000000e-34
GCST008872_16	Squamous cell carcinoma	2.000000e-06
GCST010148_19	Cutaneous squamous cell carcinoma	2.000000e-09
GCST90013410_51	Basal cell carcinoma	3.000000e-25

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009260	non-melanoma skin carcinoma
EFO:0010176	keratinocyte carcinoma
EFO:1001927	cutaneous squamous cell carcinoma

MeSH disease descriptors (6)

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
C562924	Dowling-Degos Disease (supp.)
C563730	Epidermolysis Bullosa Simplex with Migratory Circinate Erythema (supp.)
C563408	Epidermolysis Bullosa Simplex, Autosomal Recessive (supp.)
C535959	Epidermolysis bullosa simplex with mottled pigmentation (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression, decreases methylation, increases expression	9
Tobacco Smoke Pollution	affects expression, decreases expression	6
Benzo(a)pyrene	increases methylation, increases mutagenesis, affects methylation, decreases methylation	3
Cadmium	increases abundance, increases expression, affects binding	3
Mustard Gas	affects binding, increases reaction, increases alkylation, increases phosphorylation	3
bisphenol A	affects expression, increases expression	2
arsenite	increases expression, decreases reaction	2
chloropicrin	affects expression, decreases expression	2
perfluoro-n-nonanoic acid	decreases expression	2
Alitretinoin	decreases expression	2
Acetaminophen	decreases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Estradiol	affects cotreatment, decreases expression	2
Smoke	decreases expression, increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	2
4-oxoretinoic acid	decreases expression	1
beauvericin	affects cotreatment, increases expression	1
methyleugenol	decreases expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
glycidyl methacrylate	increases expression	1
pyrogallol 1,3-dimethyl ether	increases expression, affects cotreatment, affects localization, decreases expression	1
beta-lapachone	decreases expression	1
phenyl isocyanate	affects binding	1
sulindac sulfide	decreases expression	1
benzo(e)pyrene	increases methylation	1
cupric chloride	increases expression	1
phenanthrene	decreases expression	1
ethyl-p-((E)-2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthyl)-1-propenyl)benzoic acid	decreases expression	1
perfluorodecanoic acid	decreases expression	1

Cellosaurus cell lines

8 cell lines: 4 induced pluripotent stem cell, 4 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C0G7	UQACi003-A	Induced pluripotent stem cell	Male
CVCL_C0G8	UQACi004-A	Induced pluripotent stem cell	Male
CVCL_C0G9	UQACi006-A	Induced pluripotent stem cell	Female
CVCL_UJ78	MLi002-A	Induced pluripotent stem cell	Female
CVCL_ZE24	EB21	Transformed cell line	Male
CVCL_ZE25	EB22	Transformed cell line	Male
CVCL_ZE28	EB11	Transformed cell line	Female
CVCL_ZE29	EB12	Transformed cell line	Female

Clinical trials (associated diseases)

80 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
NCT05067127	PHASE3	COMPLETED	Phase III Study Assessing the Efficacy and Safety of Pegcetacoplan in Patients With C3 Glomerulopathy or Immune-Complex Membranoproliferative Glomerulonephritis
NCT05809531	PHASE3	ACTIVE_NOT_RECRUITING	An Open-Label, Nonrandomized, Multicenter Extension Study to Evaluate the Long-term Safety and Efficacy of Pegcetacoplan in Participants With C3 Glomerulopathy or Immune-Complex Membranoproliferative Glomerulonephritis
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
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