COL7A1

Summary

COL7A1 (collagen type VII alpha 1 chain, HGNC:2214) is a protein-coding gene on chromosome 3p21.31, encoding Collagen alpha-1(VII) chain (Q02388). Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen.

Source: NCBI Gene 1294 — RefSeq curated summary.

At a glance

• Gene–disease (curated): recessive dystrophic epidermolysis bullosa (Definitive, ClinGen) — +9 more curated relationships
• GWAS associations: 11
• Clinical variants (ClinVar): 6,306 total — 592 pathogenic, 365 likely-pathogenic
• Phenotypes (HPO): 137
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_000094

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2214
Approved symbol	COL7A1
Name	collagen type VII alpha 1 chain
Location	3p21.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000114270
Ensembl biotype	protein_coding
OMIM	120120
Entrez	1294

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 retained_intron, 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000328333, ENST00000422991, ENST00000459756, ENST00000462475, ENST00000465238, ENST00000466591, ENST00000467985, ENST00000470076, ENST00000474432, ENST00000487017, ENST00000681320

RefSeq mRNA: 1 — MANE Select: NM_000094 NM_000094

CCDS: CCDS2773

Canonical transcript exons

ENST00000681320 — 119 exons

Exon	Start	End
ENSE00001063333	48592102	48592248
ENSE00001063341	48588642	48588788
ENSE00001063342	48592351	48592467
ENSE00001063349	48590673	48590816
ENSE00001063351	48591464	48591592
ENSE00001063356	48592570	48592699
ENSE00001063364	48588870	48588995
ENSE00001063365	48571243	48571278
ENSE00001063368	48589599	48589718
ENSE00001063377	48592775	48592938
ENSE00001063382	48590459	48590584
ENSE00001063384	48591898	48592014
ENSE00001063390	48593537	48593696
ENSE00001063400	48589327	48589470
ENSE00001063401	48572001	48572045
ENSE00001063409	48593102	48593263
ENSE00001063410	48594368	48594548
ENSE00001063412	48591673	48591822
ENSE00001063414	48593356	48593449
ENSE00001063419	48590213	48590356
ENSE00001290639	48585036	48585116
ENSE00001292995	48587190	48587336
ENSE00001294173	48586563	48586689
ENSE00001294272	48585690	48585734
ENSE00001302640	48588282	48588404
ENSE00001304891	48587420	48587554
ENSE00001306073	48586972	48587108
ENSE00001306313	48586074	48586246
ENSE00001309912	48584485	48584556
ENSE00001311262	48585830	48585856
ENSE00001313615	48584910	48584945
ENSE00001318273	48585557	48585619
ENSE00001321531	48587793	48587939
ENSE00001327686	48584734	48584769
ENSE00001328998	48586332	48586478
ENSE00001330942	48585940	48585975
ENSE00003461176	48566510	48566563
ENSE00003463580	48583556	48583615
ENSE00003465671	48581122	48581157
ENSE00003468380	48582323	48582358
ENSE00003475893	48574488	48574550
ENSE00003477534	48584035	48584061
ENSE00003480673	48565410	48565496
ENSE00003480810	48579197	48579277
ENSE00003482916	48564783	48564980
ENSE00003487389	48582609	48582653
ENSE00003489710	48567838	48567891
ENSE00003492735	48574262	48574306
ENSE00003500554	48579785	48579814
ENSE00003501008	48576992	48577027
ENSE00003501656	48567128	48567190
ENSE00003502309	48583718	48583780
ENSE00003502693	48579480	48579515
ENSE00003505003	48572862	48572942
ENSE00003506938	48575626	48575748
ENSE00003509404	48582478	48582513
ENSE00003510603	48573021	48573056
ENSE00003512462	48566267	48566315
ENSE00003518671	48580882	48580926
ENSE00003520660	48573174	48573236
ENSE00003522363	48572127	48572171
ENSE00003523424	48570465	48570500
ENSE00003528589	48569592	48569648
ENSE00003530083	48583900	48583953
ENSE00003534902	48583127	48583171
ENSE00003535852	48567710	48567763
ENSE00003536911	48566907	48567023
ENSE00003542849	48581911	48581943
ENSE00003544427	48578453	48578515
ENSE00003546877	48576522	48576557
ENSE00003547577	48565109	48565201
ENSE00003548929	48584298	48584375
ENSE00003550102	48571101	48571160
ENSE00003551619	48568090	48568170
ENSE00003555529	48570639	48570710
ENSE00003558468	48569880	48569915
ENSE00003565183	48572503	48572538
ENSE00003568673	48575207	48575242
ENSE00003569071	48581573	48581632
ENSE00003571394	48578919	48578954
ENSE00003573289	48572380	48572421
ENSE00003573784	48568784	48568855
ENSE00003573824	48567574	48567636
ENSE00003573881	48566660	48566737
ENSE00003578737	48573316	48573348
ENSE00003579428	48578321	48578365
ENSE00003582660	48580031	48580057
ENSE00003583589	48574677	48574721
ENSE00003587795	48580300	48580344
ENSE00003593060	48573855	48573890
ENSE00003593366	48565636	48565668
ENSE00003595907	48570134	48570178
ENSE00003597793	48576884	48576919
ENSE00003598438	48580581	48580652
ENSE00003601819	48583393	48583428
ENSE00003606530	48573513	48573557
ENSE00003619310	48574797	48574865
ENSE00003624209	48575064	48575126
ENSE00003625405	48573690	48573725
ENSE00003630374	48579588	48579668
ENSE00003635481	48576676	48576771
ENSE00003637554	48569375	48569446
ENSE00003640495	48579369	48579404
ENSE00003644607	48564073	48564422
ENSE00003659806	48583013	48583048
ENSE00003663041	48575339	48575539
ENSE00003663754	48576249	48576296
ENSE00003664148	48581706	48581759
ENSE00003666487	48576400	48576435
ENSE00003672586	48581260	48581340
ENSE00003679676	48581448	48581483
ENSE00003679735	48575867	48575902
ENSE00003681716	48568499	48568534
ENSE00003684788	48570275	48570334
ENSE00003690203	48570861	48570968
ENSE00003692225	48569725	48569760
ENSE00003693777	48572671	48572739
ENSE00003911345	48595268	48595329
ENSE00003915698	48595075	48595160

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 98.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.7514 / max 536.4379, expressed in 943 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42153	5.3149	912
42154	0.2147	96
42155	0.1456	47
42148	0.0365	15
42147	0.0252	5
42152	0.0145	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	98.93	gold quality
skin of abdomen	UBERON:0001416	98.42	gold quality
skin of leg	UBERON:0001511	97.92	gold quality
lower esophagus mucosa	UBERON:0035834	97.15	gold quality
cervix squamous epithelium	UBERON:0006922	96.15	gold quality
metanephros cortex	UBERON:0010533	96.06	gold quality
zone of skin	UBERON:0000014	95.92	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.78	gold quality
esophagus mucosa	UBERON:0002469	94.92	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.51	gold quality
cerebellar hemisphere	UBERON:0002245	94.24	gold quality
ectocervix	UBERON:0012249	94.13	gold quality
cerebellar cortex	UBERON:0002129	94.04	gold quality
endocervix	UBERON:0000458	93.94	gold quality
vagina	UBERON:0000996	93.64	gold quality
upper arm skin	UBERON:0004263	93.51	gold quality
right testis	UBERON:0004534	92.54	gold quality
left testis	UBERON:0004533	92.11	gold quality
cerebellum	UBERON:0002037	92.10	gold quality
apex of heart	UBERON:0002098	92.01	gold quality
uterine cervix	UBERON:0000002	91.82	gold quality
periodontal ligament	UBERON:0008266	91.57	gold quality
gingival epithelium	UBERON:0001949	91.23	gold quality
mammalian vulva	UBERON:0000997	91.11	gold quality
minor salivary gland	UBERON:0001830	91.06	gold quality
mouth mucosa	UBERON:0003729	90.86	gold quality
gingiva	UBERON:0001828	90.72	gold quality
prostate gland	UBERON:0002367	90.68	gold quality
cervix epithelium	UBERON:0004801	90.54	gold quality
saliva-secreting gland	UBERON:0001044	89.76	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	69.93
E-ANND-3	yes	8.70

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EGR1, NFKB1, NR2F1, RELA, SMAD2, SMAD3, SMAD4, SP1

miRNA regulators (miRDB)

28 targeting COL7A1, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-365A-3P	99.43	70.02	836
HSA-MIR-365B-3P	99.43	70.02	836
HSA-MIR-6871-3P	99.43	68.85	741
HSA-MIR-449B-3P	99.20	67.24	1047
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-224-5P	98.33	70.12	1256
HSA-MIR-4704-3P	98.28	69.33	1300
HSA-MIR-3691-3P	97.90	65.97	791
HSA-MIR-6787-3P	97.75	66.17	1233
HSA-MIR-6890-3P	97.50	65.71	997
HSA-MIR-937-5P	97.43	68.39	667
HSA-MIR-5702	96.68	68.21	958
HSA-MIR-6767-3P	93.99	66.01	204

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• glycine substitution mutations in COL7A1 are associated with dominant familial dystrophic toenail changes (PMID:11843659)
• bone morphogenetic protein-1 (BMP-1), which exhibits procollagen C-proteinase activity, cleaves the C-terminal propeptide from human procollagen VII (PMID:11986329)
• The epidermolysis bullosa acquisita antigen (type VII collagen) is present in human colon and patients with crohn’s disease have autoantibodies to type VII collagen. (PMID:12060403)
• A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa. (PMID:12353709)
• May contribute to flexibility of linker of fibronectin type III domains and may affect interactions between noncollagenous 1 domain and extracellular matrix proteins. May have role in dermal-epidermal adhesion, wound healing, and skin remodeling. (PMID:12787118)
• R578X, 7786delG, and R2814X mutations are specifically limited to British patients, and the mutations 5818delC, 6573+1G–>C, and E2857X are frequent in Japanese patients. (PMID:14727126)
• identical COL7A1 glycine substitutions can cause remarkably heterogeneous clinical phenotypes (PMID:15113589)
• The predicted rates of AA substitutions for glycine were compared with missense mutations that have been observed to cause disease. Any Gly replacement will cause disease & the level of triple-helix destabilization determines clinical outcome. (PMID:15365990)
• collagen VII required for Ras-driven epidermal tumorigenesis by enhancing tumor cell invasion; retention of NC1 sequences in a subset of recessive dystrophic epidermolysis bullosa patients may contribute to their susceptibility to squamous cell carcinoma (PMID:15774758)
• TNF-alpha and IL-1beta enhance the TGF-beta-mediated up-regulation of COL7A1 expression in HaCaT keratinocytes (PMID:15810887)
• Spectrum of mutations in dystrophic epidermolysis bullosa and cryptic splicing (PMID:15816848)
• COL7A1 hemizygosity and a missense mutation with complex effects on splicing may be causative in recessive dystrophic epidermolysis bullosa (PMID:16470588)
• preimplantation genetic diagnosis for Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (PMID:16500083)
• Two boys with dystrophic epidermolysis bullosa and their fathers revealed a heterozygous nucleotide G to A transition at position 6109 and 6082 in 73 exon of COL7A1, which resulted in a glycine to arginine substitution (G2037R and G2028R), respectively. (PMID:16923137)
• Mutations from more than 1000 families with different forms of epidermolysis bullosa were analyzed. 242 mutations were distinct and 138 were novel, previously unreported mutations. (PMID:16971478)
• Epidermolysis bullosa pruriginosa due to a glycine substitution missense mutation in the COL7A1-gene (PMID:17106611)
• Glycine subsstitution in this protein underlies mild recessive dystrophic epidermolysis bullosa, showing that type VII collagen is tolefant of heterozygous glycine substitution. (PMID:17229600)
• description of a novel glycine substitution mutation in COL7A1 in a Chinese pedigree with dominant epidermolysis bullosa pruriginosa (PMID:17336503)
• We report 14 Australian families with different forms of dystrophic epidermolysis bullosa (DEB) with 23 different COL7A1 allelic variants, nine of which were novel. (PMID:17425959)
• Individuals with recessive dystrophic epidermolysis bullosa can develop squamous-cell carcinoma regardless of type VII collagen expression and that additional factors have a role in explaining the high incidence of tumors complicating this genodermatosis. (PMID:17495952)
• Data show that the cartilage matrix protein subdomain of type VII collagen is pathogenic for epidermolysis bullosa acquisita. (PMID:17525268)
• Identify novel mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa in a Chinese family. More severe phenotype observed in female members. (PMID:17900868)
• Mutational analysis revealed 30 pathogenic COL7A1 mutations among a total of 33 allels, identifying 10 novel and 14 previously adentified mutations. (PMID:17916216)
• The expression of COL7A1 mrna was higher in malignant tissue and was correlated with depth of tumor invasion and lymphatic invasion in ESCC. (PMID:18331784)
• Dystrophic epidermolysis bullosa may present in generalized or localized forms and the disease may be inherited in either autosomal dominant or recessive mode. Genetic analysis shows mutations in COL 7A1 in this case (PMID:18374850)
• Mutations in the gene for collagen VII (COL7A1) have been documented in both types of dystrophic epidermolysis bullosa. (PMID:18429782)
• A p.Glu2857X mutation exhibits mild pathogenic effects in COL7A1, and its uniqueness enables detailed analysis and comparison of the destabilizing effects of missense mutations in dystrophic epidermolysis bullosa patients. (PMID:18440202)
• known recessive DEB C7 mutations perturb critical functions of the C7 molecule and may have a role in dystrophic epidermolysis bullosa (PMID:18450758)
• linked to dystrophic epidermolysis bullosa in Tunisian consanguineous families (PMID:18496702)
• characterization of COL7A1 mutations in dystrophic epidermolysis bullosa [review] (PMID:18558993)
• The increased type VII collagen degradation was suspected to trigger an inflammatory response leading to itchy skin in EB pruriginosa. All 27 with EB pruriginosa were heterozygous for dominant-negative glycine substitution mutations in the COL7A1 gene. (PMID:19197535)
• novel glycine substitution mutation in the COL7A1 gene in three affected family members with dystrophic epidermolysis bullosa (PMID:19250433)
• Results suggest that the down-regulation of alpha 6(IV) mRNA coincides with the acquisition of invasive growth properties, whereas alpha1(IV) and alpha1(VII) mRNAs were up-regulated already in dysplastic tissue. (PMID:19422682)
• Results describe the effect of loss of collage type VII on squamous cell carcinoma tumourigenesis using RNA interference in a 3D organotypic skin model. (PMID:19435799)
• new variants of COL7A1 mutations underlying epidermolysis bullosa pruriginosa (PMID:19486043)
• Pseudosyndactyly occurs in approximately half of recessive dystrophic epidermolysis bullosa (RDEB-O) patients when type VII collagen is strongly reduced. The prognosis in RDEB cannot always be simply predicted from the COL7A1 genotype. (PMID:19665875)
• Results disclosed 42 novel COL7A1 mutations, including the first large genomic deletion of 4 kb affecting only the COL7A1 gene, and three apparently silent mutations affecting splicing. (PMID:19681861)
• Dystrophic epidermolysis bullosa (DEB) emerged as a candidate for type VII collagen mutations becausing anchoring fibrils were shown to be morphologically altered, reduced in number, or completely absent in patients (PMID:19945621)
• Although the COL7A1 database indicates that most dystrophic epidermolysis bullosa mutations are family specific, the pathogenic mutation c.6527insC was highly recurrent in this cohort, this recurrence level has never previously been reported for COL7A1. (PMID:20184583)
• six new genetic mutations were found in collagen type VII for inversa dystropic epidermolysis bullosa (PMID:20555349)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus	Col7a1	ENSRNOG00000020579
caenorhabditis_elegans		WBGENE00000674

Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), COL11A1 (ENSG00000060718), COL17A1 (ENSG00000065618), COL5A3 (ENSG00000080573), COL4A4 (ENSG00000081052), COL16A1 (ENSG00000084636), COL9A3 (ENSG00000092758), COL20A1 (ENSG00000101203), COL1A1 (ENSG00000108821), COL9A1 (ENSG00000112280), COL21A1 (ENSG00000124749), COL5A1 (ENSG00000130635), COL4A2 (ENSG00000134871), COL2A1 (ENSG00000139219), COL6A1 (ENSG00000142156), COL6A2 (ENSG00000142173), EDA (ENSG00000158813), COL26A1 (ENSG00000160963), COL1A2 (ENSG00000164692), COL3A1 (ENSG00000168542), COL4A3 (ENSG00000169031), COL22A1 (ENSG00000169436), COL24A1 (ENSG00000171502), COL18A1 (ENSG00000182871), EMID1 (ENSG00000186998), COL4A1 (ENSG00000187498), COL4A5 (ENSG00000188153), COL25A1 (ENSG00000188517), COL27A1 (ENSG00000196739), COL13A1 (ENSG00000197467), COL4A6 (ENSG00000197565), COL11A2 (ENSG00000204248), COL5A2 (ENSG00000204262), COL15A1 (ENSG00000204291), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)

Protein

Protein identifiers

Collagen alpha-1(VII) chain — Q02388 (reviewed: Q02388)

Alternative names: Long-chain collagen

All UniProt accessions (2): Q02388, C9JBL3

UniProt curated annotations — full annotation on UniProt →

Function. Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.

Subunit / interactions. Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent secretion.

Subcellular location. Secreted. Extracellular space. Extracellular matrix. Basement membrane.

Post-translational modifications. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

Disease relevance. Epidermolysis bullosa acquisita (EBA) is an autoimmune acquired blistering skin disease resulting from autoantibodies to type VII collagen. Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750] A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600] A group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms, such as epidermolysis bullosa dystrophica Hallopeau-Siemens type, to mild forms with limited localized scarring and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata. The disease is caused by variants affecting the gene represented in this entry. Transient bullous dermolysis of the newborn (TBDN) [MIM:131705] TBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within the first months and years of life. The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa dystrophica, pretibial type (PR-DEB) [MIM:131850] A form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa dystrophica, Bart type (B-DEB) [MIM:132000] An autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails. The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa pruriginosa (EBP) [MIM:604129] A distinct clinical subtype of epidermolysis bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade of life. Inheritance can be autosomal dominant or recessive. The disease is caused by variants affecting the gene represented in this entry. Nail disorder, non-syndromic congenital, 8 (NDNC8) [MIM:607523] A nail disorder characterized by isolated toenail dystrophy. The nail changes are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge. The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC) [MIM:131750] A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q02388-1	1	yes
Q02388-2	2

RefSeq proteins (1): NP_000085* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002035	VWF_A	Domain
IPR002223	Kunitz_BPTI	Domain
IPR003961	FN3_dom	Domain
IPR008160	Collagen	Repeat
IPR013783	Ig-like_fold	Homologous_superfamily
IPR020901	Prtase_inh_Kunz-CS	Conserved_site
IPR036116	FN3_sf	Homologous_superfamily
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR036880	Kunitz_BPTI_sf	Homologous_superfamily
IPR050938	Collagen_Structural_Proteins	Family

Pfam: PF00014, PF00041, PF00092, PF01391

UniProt features (176 total): sequence variant 85, compositionally biased region 29, modified residue 14, domain 12, sequence conflict 9, region of interest 8, disulfide bond 6, glycosylation site 5, short sequence motif 4, signal peptide 1, chain 1, site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q02388 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

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): 2886–2887 (reactive bond)

Post-translational modifications (14): 2036, 2039, 2084, 2087, 2090, 2167, 2176, 2185, 2188, 2625, 2631, 2664, 2667, 2673

Disulfide bonds (6): 2634, 2802, 2804, 2876–2929, 2885–2912, 2904–2925

Glycosylation sites (5): 337, 786, 1109, 2625, 2631

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-1442490	Collagen degradation
R-HSA-1566977	Fibronectin matrix formation
R-HSA-1650814	Collagen biosynthesis and modifying enzymes
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures
R-HSA-204005	COPII-mediated vesicle transport
R-HSA-216083	Integrin cell surface interactions
R-HSA-2214320	Anchoring fibril formation
R-HSA-3000157	Laminin interactions
R-HSA-5694530	Cargo concentration in the ER
R-HSA-8948216	Collagen chain trimerization

MSigDB gene sets: 451 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, AP1_01, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, TSENG_IRS1_TARGETS_UP, GOBP_COLLAGEN_FIBRIL_ORGANIZATION, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, JAEGER_METASTASIS_DN, GOCC_COLLAGEN_TRIMER, GCANCTGNY_MYOD_Q6, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, AP4_Q6, REACTOME_MEMBRANE_TRAFFICKING, CAGCTG_AP4_Q5, HUMMERICH_SKIN_CANCER_PROGRESSION_UP

GO Biological Process (3): cell adhesion (GO:0007155), epidermis development (GO:0008544), endodermal cell differentiation (GO:0035987)

GO Molecular Function (4): serine-type endopeptidase inhibitor activity (GO:0004867), extracellular matrix structural constituent conferring tensile strength (GO:0030020), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)

GO Cellular Component (9): extracellular region (GO:0005576), collagen type VII trimer (GO:0005590), basement membrane (GO:0005604), obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), COPII-coated ER to Golgi transport vesicle (GO:0030134), extracellular matrix (GO:0031012), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), collagen trimer (GO:0005581)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Extracellular matrix organization	3
Collagen formation	2
ER to Golgi Anterograde Transport	2
Degradation of the extracellular matrix	1
Assembly of collagen fibrils and other multimeric structures	1
Collagen biosynthesis and modifying enzymes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
tissue development	1
endoderm formation	1
cell differentiation	1
serine-type endopeptidase activity	1
endopeptidase inhibitor activity	1
extracellular matrix structural constituent	1
binding	1
enzyme inhibitor activity	1
peptidase activity	1
peptidase regulator activity	1
cellular anatomical structure	1
collagen anchoring fibril	1
von-Willerbrand-factor-A-domain-rich collagen trimer	1
extracellular protein-containing complex	1
extracellular matrix	1
endoplasmic reticulum	1
intracellular organelle lumen	1
coated vesicle	1
external encapsulating structure	1
endoplasmic reticulum-Golgi intermediate compartment	1
bounding membrane of organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

1722 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL7A1	LARP1	Q6PKG0	813
COL7A1	LAMC2	Q13753	788
COL7A1	MIA3	Q5JRA6	744
COL7A1	LAMB3	Q13751	696
COL7A1	DR1	Q01658	689
COL7A1	LAMC1	P11047	653
COL7A1	LAMA3	Q16787	647
COL7A1	MMP1	P03956	641
COL7A1	MMP10	P09238	633
COL7A1	LAMA4	Q16363	610
COL7A1	CD151	P48509	593
COL7A1	CYC1	P08574	590
COL7A1	UQCRC1	P31930	585
COL7A1	UQCRB	P14927	584
COL7A1	FERMT1	Q9BQL6	581

IntAct

11 interactions, top by confidence:

A	B	Type	Score
PLOD3	PLOD2	psi-mi:“MI:0914”(association)	0.530
COL7A1	MIA3	psi-mi:“MI:0915”(physical association)	0.520
MIA3	COL7A1	psi-mi:“MI:0915”(physical association)	0.520
PB2	COL7A1	psi-mi:“MI:0915”(physical association)	0.370
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
COL7A1	CBFB	psi-mi:“MI:0915”(physical association)	0.000
COL7A1	FBXL2	psi-mi:“MI:0915”(physical association)	0.000
COL7A1	HSPA8	psi-mi:“MI:0915”(physical association)	0.000
COL7A1	ZC3H7A	psi-mi:“MI:0915”(physical association)	0.000
COL7A1	SHKBP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (34): COL7A1 (Affinity Capture-RNA), COL7A1 (Affinity Capture-RNA), COL7A1 (Affinity Capture-MS), COL7A1 (Affinity Capture-MS), COL7A1 (Affinity Capture-MS), COL7A1 (Affinity Capture-MS), COL7A1 (Affinity Capture-MS), COL7A1 (Affinity Capture-MS), COL7A1 (Affinity Capture-MS), COL7A1 (Reconstituted Complex), COL7A1 (Affinity Capture-MS), COL7A1 (Reconstituted Complex), COL7A1 (Reconstituted Complex), LAMA5 (Reconstituted Complex), LAMA5 (Affinity Capture-Western)

ESM2 similar proteins: A0A140LHF2, A2AJ76, A4IFA6, A6H8M9, A8E0Y8, E7FF10, O08644, O14498, O15031, O15197, P0C091, P0C0K6, P0C0K7, P21709, P35590, P54760, P54761, P55144, Q00657, Q02388, Q04912, Q06418, Q06805, Q06806, Q0V8J4, Q3UH93, Q53RD9, Q5DRE2, Q5GFL6, Q5H8B9, Q5JZY3, Q5NVQ6, Q5SZK8, Q60750, Q63870, Q6MG64, Q6NVD0, Q6PFX6, Q6UVK1, Q70UZ7

Diamond homologs: A0A1D5NSM8, A0JNA2, A2AVA0, A2AX52, D3YXF5, O02839, O19063, O35764, O43405, O70340, O76536, O89029, O95502, O96530, P02741, P02743, P06205, P06206, P06207, P06681, P07202, P07629, P08607, P09871, P0C6B8, P10643, P12246, P13944, P14151, P14847, P15697, P18337, P23680, P32018, P47970, P47971, P47972, P48199, P49254, P49262

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
EGR1	“up-regulates quantity by expression”	COL7A1	“transcriptional regulation”
BMP1	“up-regulates quantity”	COL7A1	cleavage

Disease & clinical

Clinical variants and AI predictions

ClinVar

6306 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	592
Likely pathogenic	365
Uncertain significance	1624
Likely benign	3062
Benign	97

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1012377	NC_000003.12:g.48595347G>A	Pathogenic
1047934	NM_000094.4(COL7A1):c.58_70del (p.Arg20fs)	Pathogenic
1047936	NM_000094.4(COL7A1):c.5449C>T (p.Gln1817Ter)	Pathogenic
1047937	NM_000094.4(COL7A1):c.5532+1G>T	Pathogenic
1047938	NM_000094.4(COL7A1):c.5532+6T>C	Pathogenic
1047939	NM_000094.4(COL7A1):c.5569-11_5569-3del	Pathogenic
1047940	NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs)	Pathogenic
1047941	NM_000094.4(COL7A1):c.5755G>A (p.Gly1919Arg)	Pathogenic
1047942	NM_000094.4(COL7A1):c.5771A>G (p.Gln1924Arg)	Pathogenic
1047943	NM_000094.4(COL7A1):c.5892_5905del (p.Asp1964fs)	Pathogenic
1047944	NM_000094.4(COL7A1):c.5944_5945delinsTA (p.Gly1982Ter)	Pathogenic
1047945	NM_000094.4(COL7A1):c.6034G>A (p.Gly2012Ser)	Pathogenic
1047946	NM_000094.4(COL7A1):c.6041_6042del (p.Gln2014fs)	Pathogenic
1047947	NM_000094.4(COL7A1):c.7930-1G>C	Pathogenic
1047948	NM_000094.4(COL7A1):c.8103_8104dup (p.Glu2702fs)	Pathogenic
1047950	NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val)	Pathogenic
1047951	NM_000094.4(COL7A1):c.8209G>C (p.Gly2737Arg)	Pathogenic
1047952	NM_000094.4(COL7A1):c.8537_8565del (p.Pro2846fs)	Pathogenic
1047953	NM_000094.4(COL7A1):c.8572T>C (p.Tyr2858His)	Pathogenic
1047954	NM_000094.4(COL7A1):c.8717del (p.Pro2906fs)	Pathogenic
1047968	NM_000094.4(COL7A1):c.86-8C>A	Pathogenic
1047969	NM_000094.4(COL7A1):c.267-3C>G	Pathogenic
1047970	NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs)	Pathogenic
1047971	NM_000094.4(COL7A1):c.336C>G (p.Tyr112Ter)	Pathogenic
1047972	NM_000094.4(COL7A1):c.448G>C (p.Gly150Arg)	Pathogenic
1047973	NM_000094.4(COL7A1):c.1423C>T (p.Gln475Ter)	Pathogenic
1047974	NM_000094.4(COL7A1):c.1507G>A (p.Gly503Arg)	Pathogenic
1047975	NM_000094.4(COL7A1):c.1758del (p.Ser587fs)	Pathogenic
1047976	NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter)	Pathogenic
1047977	NM_000094.4(COL7A1):c.2142A>G (p.Gly714=)	Pathogenic

SpliceAI

14434 predictions. Top by Δscore:

Variant	Effect	Δscore
3:48565010:T:TC	acceptor_gain	1.0000
3:48565103:TCTCA:T	donor_loss	1.0000
3:48565104:CTCA:C	donor_loss	1.0000
3:48565105:TCA:T	donor_loss	1.0000
3:48565106:CA:C	donor_loss	1.0000
3:48565198:CGCT:C	acceptor_gain	1.0000
3:48565200:CT:C	acceptor_gain	1.0000
3:48565669:C:CC	acceptor_gain	1.0000
3:48566358:C:CT	acceptor_gain	1.0000
3:48566358:C:T	acceptor_gain	1.0000
3:48566506:TCA:T	donor_loss	1.0000
3:48566507:CA:C	donor_loss	1.0000
3:48566508:A:AC	donor_gain	1.0000
3:48566508:A:AT	donor_loss	1.0000
3:48566509:C:CC	donor_gain	1.0000
3:48566509:CCGT:C	donor_gain	1.0000
3:48566559:CGCCC:C	acceptor_gain	1.0000
3:48566561:CCC:C	acceptor_gain	1.0000
3:48566562:CC:C	acceptor_gain	1.0000
3:48566562:CCC:C	acceptor_gain	1.0000
3:48566563:CC:C	acceptor_gain	1.0000
3:48566564:C:CA	acceptor_loss	1.0000
3:48566564:C:CC	acceptor_gain	1.0000
3:48566565:T:G	acceptor_loss	1.0000
3:48566568:G:GC	acceptor_gain	1.0000
3:48566901:CCTTA:C	donor_loss	1.0000
3:48566902:CTTAC:C	donor_loss	1.0000
3:48566903:TTACC:T	donor_loss	1.0000
3:48566904:TACCT:T	donor_loss	1.0000
3:48566905:A:AC	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000009484 (3:48594611 G>A), RS1000077601 (3:48572845 G>T), RS1000084975 (3:48585552 C>A,T), RS1000254117 (3:48596637 A>G), RS1000350082 (3:48596410 ACTG>A,ACTGCTG), RS1000706761 (3:48578739 A>G), RS1000762097 (3:48590966 A>C), RS1000777480 (3:48577338 T>C), RS1000801020 (3:48571838 G>A), RS1001034760 (3:48577738 G>T), RS1001076813 (3:48578333 C>G,T), RS1001144083 (3:48573193 G>A,T), RS1001275714 (3:48572062 G>A), RS1001325189 (3:48565094 G>A), RS1001475262 (3:48578727 T>C)

Disease associations

OMIM: gene MIM:120120 | disease phenotypes: MIM:226600, MIM:131705, MIM:131750, MIM:131850, MIM:132000, MIM:604129, MIM:607523, MIM:131760, MIM:126800, MIM:206800, MIM:113800, MIM:162900

GenCC curated gene-disease

Disease	Classification	Inheritance
recessive dystrophic epidermolysis bullosa	Definitive	Autosomal recessive
epidermolysis bullosa with congenital localized absence of skin and deformity of nails	Definitive	Autosomal dominant
dystrophic epidermolysis bullosa pruriginosa	Definitive	Autosomal dominant
transient bullous dermolysis of the newborn	Strong	Autosomal dominant
generalized dominant dystrophic epidermolysis bullosa	Strong	Autosomal dominant
pretibial dystrophic epidermolysis bullosa	Strong	Autosomal dominant
acral dystrophic epidermolysis bullosa	Supportive	Autosomal dominant
dystrophic epidermolysis bullosa, nails only	Supportive	Autosomal dominant
recessive dystrophic epidermolysis bullosa inversa	Supportive	Autosomal recessive
recessive dystrophic epidermolysis bullosa-generalized other	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
recessive dystrophic epidermolysis bullosa	Definitive	AR

Mondo (25): epidermolysis bullosa dystrophica (MONDO:0006543), recessive dystrophic epidermolysis bullosa (MONDO:0009179), transient bullous dermolysis of the newborn (MONDO:0007548), generalized dominant dystrophic epidermolysis bullosa (MONDO:0007549), pretibial dystrophic epidermolysis bullosa (MONDO:0007552), epidermolysis bullosa with congenital localized absence of skin and deformity of nails (MONDO:0007557), dystrophic epidermolysis bullosa pruriginosa (MONDO:0011398), nonsyndromic congenital nail disorder 8 (MONDO:0011852), epidermolysis bullosa simplex 1A, generalized severe (MONDO:0007550), hepatoblastoma (MONDO:0018666), epidermolysis bullosa (MONDO:0006541), Duane retraction syndrome (MONDO:0007473), microcephaly (MONDO:0001149), hyperpigmentation of the skin (MONDO:0019289), amelogenesis imperfecta type 1 (MONDO:0015047)

Orphanet (17): Dystrophic epidermolysis bullosa (Orphanet:303), Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form (Orphanet:79408), Recessive dystrophic epidermolysis bullosa inversa (Orphanet:79409), Autosomal dominant generalized dystrophic epidermolysis bullosa (Orphanet:231568), Localized dystrophic epidermolysis bullosa, pretibial form (Orphanet:79410), Self-improving dystrophic epidermolysis bullosa (Orphanet:79411), Dystrophic epidermolysis bullosa pruriginosa (Orphanet:89843), Autosomal dominant generalized epidermolysis bullosa simplex, severe form (Orphanet:79396), Hepatoblastoma (Orphanet:449), Duane retraction syndrome (Orphanet:233), Hyperpigmentation of the skin (Orphanet:79375), Hypoplastic amelogenesis imperfecta (Orphanet:100031), Isolated congenital anonychia (Orphanet:79143), Anonychia congenita totalis (Orphanet:94150), Autosomal dominant epidermolytic ichthyosis (Orphanet:312)

HPO phenotypes

137 total (30 of 137 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000079	Abnormality of the urinary system
HP:0000083	Renal insufficiency
HP:0000099	Glomerulonephritis
HP:0000152	Abnormality of head or neck
HP:0000160	Narrow mouth
HP:0000402	Stenosis of the external auditory canal
HP:0000478	Abnormality of the eye
HP:0000509	Conjunctivitis
HP:0000518	Cataract
HP:0000559	Corneal scarring
HP:0000572	Visual loss
HP:0000670	Carious teeth
HP:0000716	Depression
HP:0000739	Anxiety
HP:0000794	IgA deposition in the glomerulus
HP:0000823	Delayed puberty
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0000962	Hyperkeratosis
HP:0000963	Thin skin
HP:0000972	Palmoplantar hyperkeratosis
HP:0000982	Palmoplantar keratoderma
HP:0000987	Atypical scarring of skin
HP:0000989	Pruritus
HP:0000992	Cutaneous photosensitivity
HP:0001000	Abnormality of skin pigmentation
HP:0001009	Telangiectasia
HP:0001029	Poikiloderma

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST004131_23	Inflammatory bowel disease	1.000000e-33
GCST004132_17	Crohn’s disease	3.000000e-23
GCST004133_11	Ulcerative colitis	8.000000e-20
GCST004403_9	Bone fracture in osteoporosis	9.000000e-06
GCST007335_6	Age at first sexual intercourse	5.000000e-09
GCST010241_1	Apolipoprotein A1 levels	3.000000e-20
GCST010698_80	Subcortical volume (min-P)	3.000000e-24
GCST010699_110	Brain morphology (min-P)	4.000000e-08
GCST010701_52	Cortical surface area (MOSTest)	1.000000e-16
GCST010702_36	Subcortical volume (MOSTest)	1.000000e-10
GCST010703_262	Brain morphology (MOSTest)	2.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009749	age at first sexual intercourse measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (16)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D004370	Duane Retraction Syndrome	C10.292.562.700.375.500; C11.270.235; C11.590.436.400.500; C16.320.290.235
D004820	Epidermolysis Bullosa	C16.131.831.493; C16.320.850.275; C17.800.804.493; C17.800.827.275; C17.800.865.410
D016108	Epidermolysis Bullosa Dystrophica	C16.131.831.493.160; C16.320.850.275.160; C17.300.200.367; C17.800.804.493.160; C17.800.827.275.160; C17.800.865.410.160
D018197	Hepatoblastoma	C04.557.435.380
D017488	Hyperkeratosis, Epidermolytic	C16.131.831.512.400.375; C16.320.850.400.375; C16.614.492.400.375; C17.800.428.333.250.375; C17.800.804.512.400.375; C17.800.827.400.375
D007057	Ichthyosis	C16.131.831.512; C16.614.492; C17.800.428.333; C17.800.804.512
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D013959	Thyroid Diseases	C19.874
C536377	Anonychia congenita (supp.)
C580062	Epidermal Nevus (supp.)
C563192	Epidermolysis Bullosa Pruriginosa (supp.)
C562638	Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails (supp.)
C535494	Epidermolysis bullosa, pretibial (supp.)
C564384	Toenail Dystrophy, Isolated (supp.)
C536979	Transient bullous dermolysis of the newborn (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5498505 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	4
Benzo(a)pyrene	decreases methylation, increases expression, affects methylation, decreases expression	4
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	4
Dexamethasone	affects cotreatment, decreases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression	3
bisphenol A	decreases expression, affects cotreatment	2
Air Pollutants	increases abundance, decreases expression, affects expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	2
Aflatoxin B1	increases expression, increases methylation	2
bisphenol F	affects cotreatment, decreases expression	1
selenomethylselenocysteine	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
decabromobiphenyl ether	decreases expression	1
cinnamaldehyde	increases expression	1
dimethylselenide	increases expression, increases oxidation	1
cobaltous chloride	increases expression, increases reaction, affects binding	1
tetrabromobisphenol A	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
seocalcitol	increases expression	1
chloropicrin	decreases expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
clothianidin	decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1

Cellosaurus cell lines

14 cell lines: 10 induced pluripotent stem cell, 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A4HU	EBKC-iPSCs case1 #1	Induced pluripotent stem cell	Male
CVCL_A4HV	EBKC-iPSCs case1 #2	Induced pluripotent stem cell	Male
CVCL_A4HW	EBKC-iPSCs case2 #1	Induced pluripotent stem cell	Female
CVCL_A4HX	EBKC-iPSCs case2 #2	Induced pluripotent stem cell	Female
CVCL_A8HI	MLi004-A	Induced pluripotent stem cell	Female
CVCL_C0F6	ZSPHARi001-A	Induced pluripotent stem cell	Male
CVCL_D0FG	IMAGINi002-A	Induced pluripotent stem cell	Male
CVCL_D0FH	IMAGINi003-A	Induced pluripotent stem cell	Male
CVCL_D4WS	MLi005-A	Induced pluripotent stem cell	Male
CVCL_E1U4	HAP1 COL7A1 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07596927	PHASE4	ACTIVE_NOT_RECRUITING	Curcumin-Based Photodynamic Therapy in Epidermolysis Bullosa: Wound Healing, Quality of Life, and Salivary Biomarkers
NCT02933333	PHASE4	UNKNOWN	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
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
NCT04213261	PHASE3	ACTIVE_NOT_RECRUITING	A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa
NCT04227106	PHASE3	COMPLETED	Phase 3, Open-label Clinical Trial of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB)
NCT04491604	PHASE3	COMPLETED	Ph 3 Efficacy and Safety of B-VEC for the Treatment of DEB
NCT04917874	PHASE3	COMPLETED	A Long-term Treatment With B-VEC for Dystrophic Epidermolysis Bullosa
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
NCT07016750	PHASE3	RECRUITING	A Study Comparing KB803 and Matched Placebo in Patients With Dystrophic Epidermolysis Bullosa
NCT00587223	PHASE3	TERMINATED	Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB)
NCT03017326	PHASE3	ACTIVE_NOT_RECRUITING	Paediatric Hepatic International Tumour Trial
NCT03533582	PHASE3	ACTIVE_NOT_RECRUITING	Cisplatin and Combination Chemotherapy in Treating Children and Young Adults With Hepatoblastoma or Liver Cancer After Surgery
NCT04478292	PHASE3	RECRUITING	A Multi-institutional Study for Treatment of Children With Newly Diagnosed Hepatoblastoma Using a Modified PHITT Strategy
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
NCT05464381	PHASE3	ACTIVE_NOT_RECRUITING	Allogeneic ABCB5-positive Dermal Mesenchymal Stromal Cells for Treatment of Epidermolysis Bullosa (Phase III, Cross-over)
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
NCT04599881	PHASE2	COMPLETED	A Study of PTR-01 in Recessive Dystrophic Epidermolysis Bullosa
NCT05143190	PHASE2	COMPLETED	Extension Study to PTR-01-002 (A Study in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Patients Previously Treated With PTR-01)
NCT00951964	PHASE2	COMPLETED	Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate)
NCT04908215	PHASE2	COMPLETED	INM-755 (Cannabinol) Cream for Treatment of Epidermolysis Bullosa
NCT01154816	PHASE2	COMPLETED	Alisertib in Treating Young Patients With Recurrent or Refractory Solid Tumors or Leukemia
NCT02011126	PHASE2	WITHDRAWN	Imetelstat Sodium in Treating Younger Patients With Relapsed or Refractory Solid Tumors
NCT02867592	PHASE2	ACTIVE_NOT_RECRUITING	Cabozantinib-S-Malate in Treating Younger Patients With Recurrent, Refractory, or Newly Diagnosed Sarcomas, Wilms Tumor, or Other Rare Tumors
NCT03155620	PHASE2	ACTIVE_NOT_RECRUITING	Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)
NCT03210714	PHASE2	ACTIVE_NOT_RECRUITING	Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213652	PHASE2	ACTIVE_NOT_RECRUITING	Ensartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial)
NCT03213665	PHASE2	COMPLETED	Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial)
NCT03213678	PHASE2	COMPLETED	Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213704	PHASE2	ACTIVE_NOT_RECRUITING	Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial)
NCT03220035	PHASE2	COMPLETED	Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial)