ITGA6

Summary

ITGA6 (integrin subunit alpha 6, HGNC:6142) is a protein-coding gene on chromosome 2q31.1, encoding Integrin alpha-6 (P23229). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets.

The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 3655 — RefSeq curated summary.

At a glance

• Gene–disease (curated): junctional epidermolysis bullosa with pyloric atresia (Strong, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 803 total — 31 pathogenic, 19 likely-pathogenic
• Phenotypes (HPO): 42
• Druggable target: yes
• MANE Select transcript: NM_000210

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6142
Approved symbol	ITGA6
Name	integrin subunit alpha 6
Location	2q31.1
Locus type	gene with protein product
Status	Approved
Aliases	CD49f, VLA-6, ITGA6A, ITGA6B
Ensembl gene	ENSG00000091409
Ensembl biotype	protein_coding
OMIM	147556
Entrez	3655

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 14 protein_coding, 4 retained_intron

ENST00000264107, ENST00000409080, ENST00000409532, ENST00000412899, ENST00000416789, ENST00000442250, ENST00000458358, ENST00000469534, ENST00000470259, ENST00000475302, ENST00000497107, ENST00000684293, ENST00000715295, ENST00000874109, ENST00000874110, ENST00000874111, ENST00000874112, ENST00000953156

RefSeq mRNA: 6 — MANE Select: NM_000210 NM_000210, NM_001079818, NM_001316306, NM_001365529, NM_001365530, NM_001394928

CCDS: CCDS2249, CCDS46451, CCDS82534, CCDS92897, CCDS92898

Canonical transcript exons

ENST00000684293 — 26 exons

Exon	Start	End
ENSE00000782241	172487264	172487453
ENSE00000782270	172474055	172474265
ENSE00000882762	172501772	172501901
ENSE00000882766	172491024	172491122
ENSE00000882771	172487961	172488038
ENSE00000882772	172487728	172487807
ENSE00000882773	172487547	172487630
ENSE00000882775	172487023	172487138
ENSE00000882777	172485121	172485264
ENSE00000882778	172484782	172484942
ENSE00000882782	172476395	172476513
ENSE00000882783	172475597	172475685
ENSE00000882787	172469125	172469380
ENSE00001073186	172479990	172480051
ENSE00001073191	172479641	172479739
ENSE00001073193	172489485	172489658
ENSE00001073209	172474929	172475122
ENSE00003490910	172470974	172471105
ENSE00003545449	172491221	172491331
ENSE00003562530	172488126	172488228
ENSE00003604248	172491425	172491523
ENSE00003694167	172497975	172498100
ENSE00003843656	172427586	172427970
ENSE00004026460	172467481	172467560
ENSE00004026463	172465539	172465663
ENSE00004026464	172504091	172506459

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 98.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.1979 / max 1417.5136, expressed in 1649 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23701	37.5866	1610
23702	3.6162	1163
23700	0.8647	498
23705	0.0854	30
23699	0.0451	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibial nerve	UBERON:0001323	98.60	gold quality
sural nerve	UBERON:0015488	98.53	gold quality
dorsal root ganglion	UBERON:0000044	98.23	gold quality
trigeminal ganglion	UBERON:0001675	97.89	gold quality
colonic epithelium	UBERON:0000397	97.75	gold quality
calcaneal tendon	UBERON:0003701	97.48	gold quality
rectum	UBERON:0001052	97.46	gold quality
pylorus	UBERON:0001166	97.10	gold quality
tendon of biceps brachii	UBERON:0008188	96.92	gold quality
duodenum	UBERON:0002114	96.89	gold quality
jejunal mucosa	UBERON:0000399	96.67	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.66	gold quality
gingiva	UBERON:0001828	96.58	gold quality
gingival epithelium	UBERON:0001949	96.56	gold quality
minor salivary gland	UBERON:0001830	96.25	gold quality
colonic mucosa	UBERON:0000317	96.22	gold quality
synovial joint	UBERON:0002217	96.19	gold quality
gall bladder	UBERON:0002110	96.16	gold quality
mouth mucosa	UBERON:0003729	96.14	gold quality
penis	UBERON:0000989	95.96	gold quality
saliva-secreting gland	UBERON:0001044	95.91	gold quality
cardia of stomach	UBERON:0001162	95.84	gold quality
tendon	UBERON:0000043	95.74	gold quality
olfactory bulb	UBERON:0002264	95.62	gold quality
endometrium	UBERON:0001295	95.11	gold quality
mammary duct	UBERON:0001765	95.05	gold quality
epithelium of mammary gland	UBERON:0003244	94.99	gold quality
tongue squamous epithelium	UBERON:0006919	94.95	gold quality
mammary gland	UBERON:0001911	94.78	gold quality
thoracic mammary gland	UBERON:0005200	94.77	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	2494.13
E-GEOD-131882	yes	2185.28
E-MTAB-11268	yes	1752.62
E-GEOD-86618	yes	1384.12
E-ENAD-21	yes	881.33
E-CURD-11	yes	840.68
E-GEOD-135922	yes	41.33
E-GEOD-81547	yes	21.92
E-HCAD-35	yes	20.61
E-CURD-112	yes	7.88
E-GEOD-150728	no	432.29
E-GEOD-109979	no	272.47
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI2, ITGB8, MYC, PGR, PMP22, POU5F1, SOX2, SP1

miRNA regulators (miRDB)

230 targeting ITGA6, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3163	100.00	77.23	8605
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-186-5P	99.99	70.83	3707
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-25-3P	99.98	74.60	1817

Literature-anchored findings (GeneRIF, showing 40)

• Mechanisms involved in alpha6beta1-integrin-mediated Ca(2+) signalling (PMID:11728829)
• Reduction in integrin alpha6beta4 is related to changes seen during immortalization and malignant progression (PMID:11809527)
• The PDZ domain of TIP-2/GIPC interacts with the C-terminus of the integrin alpha5 and alpha6 subunits. (PMID:11852236)
• These results demonstrate that integrin-dependent cell to extracellular matrix adhesion reinforces E-cadherin-dependent cell-cell adhesion in Caco-2 cells. (PMID:11861761)
• Production of the alpha(6p) variant from alpha(6) integrin may involve a post-translational processing event at the cell surface. (PMID:11959811)
• Human prostate tumors display on their cell surface the alpha6beta1 and/or alpha3beta1 integrins (PMID:11988844)
• Integrin (alpha 6 beta 4) regulation of eIF-4E activity and VEGF translation (Integrin alpha6beta4) (PMID:12105188)
• role in mediating pro-angiogenic activity of CYR61 (PMID:12364323)
• Data suggest that the stability of the interaction between alpha6beta4 and laminin-5 is influenced by the clustering of alpha6beta4 through the deposition of laminin-5 underneath the cells. (PMID:12429829)
• Results suggest that alpha6beta4 integrin-mediated interactions of astrocytes with beta(ig)-h3 transduce intracellular signals through the focal adhesion proteins, which may regulate certain aspects of astrocyte response to brain injury. (PMID:12499048)
• integrin alpha 6 beta 1 binds to CCN1 (PMID:12826661)
• alpha6beta1 integrins have roles as thrombospondin receptors in microvascular and large vessel endothelial cells (PMID:12909644)
• Data show that macrophage stimulating protein (MSP) and its receptor (Ron) induce phosphorylation of both Ron and alpha6beta4 integrin, and result in activation of alpha3beta1 integrin. (PMID:12919677)
• In pancreatic cancer, IL-1alpha enhanced alpha(6)beta(1)-integrin expression, probably via increased IL-1RI levels. (PMID:12931024)
• compartmentalization in lipid rafts is necessary to couple the alpha6beta4 integrin to a palmitoylated src family kinases and promote EGF-dependent mitogenesis. (PMID:14517202)
• Data demonstrate that alpha6beta4 integrin mediates pancreatic epithelial cell adhesion to Netrin-1, whereas recruitment of alpha6beta4 and alpha3beta1 regulate the migration of putative pancreatic progenitors on Netrin-1. (PMID:14602071)
• ligand-binding specificities of integrin alpha3beta1 and alpha6beta1 (PMID:14607975)
• Results indicate that alpha6-containing integrin expression can be a significant marker of malignancy in intraductal papillary-mucinous tumors (IPMTs). (PMID:14707725)
• alpha(6)beta(4) has a generic influence on the invasion of carcinoma cells that is not specific to Met (PMID:15161909)
• Results suggest that bacterial heat shock protein 60 may promote epithelial cell migration through activation of epidermal growth factor receptor and mitogen-activated protein kinases, and inhibition of alpha6beta4 integrin expression. (PMID:15194479)
• cAMP-Epac-Rap1 pathway regulates cell spreading and cell adhesion to laminin-5 through the alpha3beta1 integrin but not the alpha6beta4 integrin (PMID:15302884)
• CD82 attenuates integrin alpha6 signaling during a cellular morphogenic process (PMID:15557282)
• alpha6beta4 can augment cell-cell adhesion and slow down haptotaxis over laminin-5 (PMID:15579904)
• Enhanced expression of Integrin alpha6 is associated with liver metastases from gastrointestinal tumours (PMID:15679046)
• adhesion to laminin-1 through alpha6-integrin represents a protective mechanism for melanocytes to withstand UVB damage (PMID:15885076)
• alpha6beta4 integrin potentiates autotaxin expression through the upregulation and activation of NFAT1. (PMID:15897878)
• alpha3, alpha5, and alpha6 beta1 integrins are expressed in ductal cells at 8 weeks, before glucagon- and insulin-immunoreactive cells bud off in fetal pancrea. (PMID:15983209)
• the signals induced by integrin alpha6beta1 modulate at the level of PI3K and Cdc42 activity to allow platelets to actively form filopodia (PMID:16228294)
• alpha6beta4 integrin is mobilized and activated durign carcinoma progression [review] (PMID:16258729)
• Data show that alpha6 and alpha3 integrin subunits interact with laminin 5 to increase expression of E-cadherin, and suggest that phosphoinositide 3-kinase (PI 3-kinase) activation plays a key role in this cross-talk. (PMID:16339173)
• A peptide is identified within the extracellular domain of integrin alpha 6 molecule, to which antibodies in the sera from patients with oral pemphigoid (OP) bind, and which may play an important role in the pathogenesis of OP. (PMID:16424229)
• PMP22 forms a complex with alpha6beta4 integrin in cultured colonic adenocarcinoma cells. (PMID:16436605)
• IL-1alpha can induce selective upregulation of alpha6beta1-integrin and uPA/uPAR in pancreatic cancer cells and these changes may modulate the aggressive functions of pancreatic cancer. (PMID:16504015)
• EWI proteins EWI-2 and EWI-F, alpha3beta1 and alpha6beta4 integrins, and protein palmitoylation have contrasting effects on cell surface CD9 organization (PMID:16537545)
• Both integrin alpha3beta1- and alpha6beta4-dependent cell adhesion to laminin-5 were also impaired in CD151-silenced cells. (PMID:16571677)
• Acquisition of multiple antitumor drugs was accompanied by a drastically reduced expression of alpha6beta1 in the adenocarcinoma cells. (PMID:16732726)
• Ln-5 is an important regulator of ADPKD cell proliferation and cystogenesis; Ln-5 gamma(2) chain and Ln-5-alpha(6)beta(4) integrin interaction both contribute to these phenotypic changes (PMID:16870608)
• in natural HPV infection, proliferating keratinocytes expressing alpha6 integrin at the site of epithelial wounding might be targeted by virions adsorbed transiently to LN5 secreted by migrating keratinocytes (PMID:16940506)
• The role of PTHrP in breast cancer growth and metastasis may be mediated via upregulation of integrin alpha6beta4 expression and Akt activation, with consequent inactivation of GSK-3. (PMID:16965770)
• The role of integrin alpha6beta4 in keratinocyte migration via laminin-332 matrix organization is reported.[integrin alpha6beta4; laminin-332] (PMID:16973601)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	itga6a	ENSDARG00000042282
danio_rerio	itga6l	ENSDARG00000056018
danio_rerio	itga6b	ENSDARG00000069946
danio_rerio		ENSDARG00000099348
mus_musculus	Itga6	ENSMUSG00000027111
rattus_norvegicus	Itga6	ENSRNOG00000001518
drosophila_melanogaster	if	FBGN0001250
drosophila_melanogaster	ItgaPS4	FBGN0034005
drosophila_melanogaster	ItgaPS5	FBGN0034880
drosophila_melanogaster	scb	FBGN0286785
caenorhabditis_elegans		WBGENE00003929

Paralogs (17): ITGAL (ENSG00000005844), ITGA3 (ENSG00000005884), ITGA2B (ENSG00000005961), ITGA8 (ENSG00000077943), ITGAE (ENSG00000083457), ITGA4 (ENSG00000115232), ITGA7 (ENSG00000135424), ITGA11 (ENSG00000137809), ITGAV (ENSG00000138448), ITGAX (ENSG00000140678), ITGA10 (ENSG00000143127), ITGA9 (ENSG00000144668), ITGAD (ENSG00000156886), ITGA5 (ENSG00000161638), ITGA2 (ENSG00000164171), ITGAM (ENSG00000169896), ITGA1 (ENSG00000213949)

Protein

Protein identifiers

Integrin alpha-6 — P23229 (reviewed: P23229)

Alternative names: CD49 antigen-like family member F, VLA-6

All UniProt accessions (5): P23229, A0A8C8KBL6, A0AAQ5BID9, C9JXX7, H7BZ97

UniProt curated annotations — full annotation on UniProt →

Function. Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets. Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion. Integrin alpha-6/beta-4 (ITGA6:ITGB4) is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling. ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling.

Subunit / interactions. Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-6 associates with either beta-1 (ITGB1) or beta-4 (ITGB4) to form ITGA6:ITGB1 and ITGA6:ITGB4, respectively. ITGA6:ITGB1 is found in a complex with CD9; interaction takes place in oocytes and is involved in sperm-egg fusion. ITGA6:ITGB4 is found in a ternary complex with NRG1 and ERBB3. ITGA6:ITGB4 is found in a ternary complex with IGF1 and IGF1R. ITGA6:ITGB4 interacts with IGF2. Interacts with ADAM9. Interacts with RAB21. Interacts with MDK. ITGA6:ITGB1 interacts with MDK; this interaction mediates MDK-induced neurite outgrowth. Interacts with CD82; this interaction down-regulates ITGA6-mediated cell adhesion.

Subcellular location. Cell membrane.

Tissue specificity. Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoforms containing segment X1 are ubiquitously expressed. Isoforms containing segment X1X2 are expressed in heart, kidney, placenta, colon, duodenum, myoblasts and myotubes, and in a limited number of cell lines; they are always coexpressed with the ubiquitous isoform containing segment X1. In some tissues (e.g. Salivary gland), isoforms containing cytoplasmic segment A and isoforms containing segment B are detected while in others, only isoforms containing one cytoplasmic segment are found (segment A in epidermis and segment B in kidney). Processed integrin alpha-6: Expressed at low levels in normal prostate tissue with elevated levels in prostate cancer tissue (at protein level).

Post-translational modifications. Isoforms containing segment A, but not segment B, are the major targets for PMA-induced phosphorylation. Phosphorylation occurs on ‘Ser-1103’ of isoform alpha-6X1X2A. Phosphorylation is not required for the induction of integrin alpha-6A/beta-1 high affinity but may reduce the affinity for ligand. Undergoes PLAU-mediated cleavage at residues Arg-634-635-Arg in a time-dependent manner to produce processed integrin alpha-6 (alpha6p). Production of alpha6p enhances prostate cancer cell invasion and migration. Palmitoylation by DHHC3 enhances stability and cell surface expression.

Disease relevance. Epidermolysis bullosa, junctional 6, with pyloric atresia (JEB6) [MIM:619817] A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB6 is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. Clinical manifestations include severe blistering, atrophic scarring, nail dystrophy, and pyloric atresia. Congenital absence of skin (aplasia cutis congenita) is common, and ear anomalies are also relatively common. Disease course is usually severe and often lethal in the neonatal period. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the integrin alpha chain family.

Isoforms (8)

UniProt ID	Names	Canonical?
P23229-1	Alpha-6X1X2B	yes
P23229-2	Alpha-6X1A
P23229-3	Alpha-6X1B
P23229-4	Alpha-6X2A
P23229-5	Alpha-6X2B
P23229-6	Alpha-6X1X2A
P23229-7	7
P23229-9	9

RefSeq proteins (6): NP_000201, NP_001073286, NP_001303235, NP_001352458, NP_001352459, NP_001381857 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000413	Integrin_alpha	Family
IPR013517	FG-GAP	Repeat
IPR013519	Int_alpha_beta-p	Repeat
IPR013649	Integrin_alpha_Ig-like_1	Domain
IPR018184	Integrin_alpha_C_CS	Conserved_site
IPR028994	Integrin_alpha_N	Homologous_superfamily
IPR032695	Integrin_dom_sf	Homologous_superfamily
IPR048285	Integrin_alpha_Ig-like_2	Domain
IPR048286	Integrin_alpha_Ig-like_3	Domain

Pfam: PF01839, PF08441, PF20805, PF20806

UniProt features (109 total): strand 39, binding site 14, glycosylation site 9, disulfide bond 9, repeat 7, splice variant 5, sequence conflict 5, chain 4, turn 4, modified residue 3, topological domain 2, helix 2, signal peptide 1, region of interest 1, short sequence motif 1, site 1, lipid moiety-binding region 1, transmembrane region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7CEB	X-RAY DIFFRACTION	2.89
7CEC	ELECTRON MICROSCOPY	3.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P23229-F1	80.05	0.43

Antibody-complex structures (SAbDab): 2 — 7CEB, 7CEC

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): 634–635 (cleavage; by plau in invasive prostate cancer)

Ligand- & substrate-binding residues (14): 363; 365; 367; 371; 425; 427; 429; 431; 433; 480; 482; 484 …

Post-translational modifications (4): 1064, 1059, 1103, 1078

Disulfide bonds (9): 86–94, 131–154, 175–188, 528–535, 541–601, 665–671, 765–776, 920–967, 973–978

Glycosylation sites (9): 78, 223, 323, 409, 770, 787, 930, 966, 997

Function

Pathways and Gene Ontology

Reactome pathways

20 pathways

ID	Pathway
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures
R-HSA-210991	Basigin interactions
R-HSA-216083	Integrin cell surface interactions
R-HSA-3000157	Laminin interactions
R-HSA-3000170	Syndecan interactions
R-HSA-446107	Type I hemidesmosome assembly
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-9927426	Developmental Lineage of Mammary Gland Alveolar Cells
R-HSA-9927432	Developmental Lineage of Mammary Gland Myoepithelial Cells
R-HSA-9938206	Developmental Lineage of Mammary Stem Cells
R-HSA-109582	Hemostasis
R-HSA-1266738	Developmental Biology
R-HSA-1474244	Extracellular matrix organization
R-HSA-1474290	Collagen formation
R-HSA-1500931	Cell-Cell communication
R-HSA-202733	Cell surface interactions at the vascular wall
R-HSA-3000171	Non-integrin membrane-ECM interactions
R-HSA-446728	Cell junction organization
R-HSA-9734767	Developmental Cell Lineages

MSigDB gene sets: 627 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, MODULE_52, BROWNE_HCMV_INFECTION_6HR_DN, MYOGENIN_Q6, MODULE_45, AREB6_03, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOCC_CELL_SURFACE, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_NEUROGENESIS, MODULE_16, GGGTGGRR_PAX4_03

GO Biological Process (16): cell-substrate junction assembly (GO:0007044), cell-matrix adhesion (GO:0007160), integrin-mediated signaling pathway (GO:0007229), ectodermal cell differentiation (GO:0010668), positive regulation of neuron projection development (GO:0010976), positive regulation of cell migration (GO:0030335), cell-substrate adhesion (GO:0031589), nail development (GO:0035878), positive regulation of apoptotic process (GO:0043065), positive regulation of GTPase activity (GO:0043547), skin morphogenesis (GO:0043589), positive regulation of transcription by RNA polymerase II (GO:0045944), leukocyte migration (GO:0050900), cell-cell adhesion (GO:0098609), negative regulation of extrinsic apoptotic signaling pathway (GO:2001237), cell adhesion (GO:0007155)

GO Molecular Function (6): insulin-like growth factor I binding (GO:0031994), signaling receptor activity (GO:0038023), neuregulin binding (GO:0038132), cadherin binding (GO:0045296), metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (7): plasma membrane (GO:0005886), focal adhesion (GO:0005925), cell surface (GO:0009986), integrin alpha6-beta1 complex (GO:0034675), integrin alpha6-beta4 complex (GO:0034676), integrin complex (GO:0008305), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Extracellular matrix organization	4
Developmental Lineages of the Mammary Gland	4
Collagen formation	1
Cell surface interactions at the vascular wall	1
Non-integrin membrane-ECM interactions	1
Cell junction organization	1
Developmental Cell Lineages of the Integumentary System	1
Hemostasis	1
Cell-Cell communication	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell migration	2
cell adhesion	2
cellular anatomical structure	2
integrin complex	2
cell junction assembly	1
cell-substrate junction organization	1
cell-substrate adhesion	1
cell surface receptor signaling pathway	1
ectoderm development	1
cell differentiation	1
regulation of neuron projection development	1
neuron projection development	1
positive regulation of cell projection organization	1
regulation of cell migration	1
positive regulation of cell motility	1
anatomical structure development	1
limb development	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
GTPase activity	1
regulation of GTPase activity	1
positive regulation of hydrolase activity	1
animal organ morphogenesis	1
skin development	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
immune system process	1
extrinsic apoptotic signaling pathway	1
negative regulation of apoptotic signaling pathway	1
regulation of extrinsic apoptotic signaling pathway	1
cellular process	1
insulin-like growth factor binding	1
molecular transducer activity	1
growth factor binding	1
cell adhesion molecule binding	1
cation binding	1
binding	1
membrane	1

Protein interactions and networks

STRING

2768 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ITGA6	ITGB4	P16144	999
ITGA6	ITGB1	P05556	997
ITGA6	COL17A1	Q9UMD9	888
ITGA6	LAMA5	O15230	868
ITGA6	CDH1	P12830	827
ITGA6	EPCAM	P16422	821
ITGA6	PLEC	Q15149	815
ITGA6	CD151	P48509	813
ITGA6	ITGB2	P05107	802
ITGA6	ITGB3	P05106	800
ITGA6	FN1	P02751	799
ITGA6	LAMA3	Q16787	785
ITGA6	LAMA4	Q16363	783
ITGA6	ITGB5	P18084	772
ITGA6	ITGAV	P06756	756

IntAct

125 interactions, top by confidence:

A	B	Type	Score
TSPAN15	ADAM10	psi-mi:“MI:0914”(association)	0.840
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
ITGA6	ITGB4	psi-mi:“MI:0915”(physical association)	0.750
ITGA6	ITGB4	psi-mi:“MI:0403”(colocalization)	0.750
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CD151	ITGA6	psi-mi:“MI:0915”(physical association)	0.700
CD151	ITGA6	psi-mi:“MI:0403”(colocalization)	0.700
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
ITGB1	ITGA6	psi-mi:“MI:0915”(physical association)	0.560
ITGA6	ITGB1	psi-mi:“MI:0914”(association)	0.560
CD81	C2orf72	psi-mi:“MI:0914”(association)	0.530
CD151	ITGB1	psi-mi:“MI:0914”(association)	0.530
CLEC4A	SEMA7A	psi-mi:“MI:0914”(association)	0.530
PICK1	ILVBL	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
BTNL3	FAM171A2	psi-mi:“MI:0914”(association)	0.530
TSPAN11	IGLL5	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
TMED6	SMPD2	psi-mi:“MI:0914”(association)	0.530
B4GALT4	HSPA5	psi-mi:“MI:0914”(association)	0.530

BioGRID (237): ITGA6 (Affinity Capture-RNA), ITGA6 (Affinity Capture-RNA), ITGA6 (Affinity Capture-MS), ITGA6 (Affinity Capture-MS), ITGA6 (Affinity Capture-MS), ITGA6 (Affinity Capture-MS), ITGA6 (Affinity Capture-MS), ITGA6 (Affinity Capture-MS), ITGA6 (Affinity Capture-MS), ITGA6 (Affinity Capture-MS), ITGA6 (Affinity Capture-MS), ITGA6 (Affinity Capture-MS), LGALS3BP (Reconstituted Complex), ITGA6 (Proximity Label-MS), ITGA6 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M9PFP2, A2A863, A5Z1X6, B0FYY4, B2RXS4, O13146, O15031, O73875, P05107, P05556, P07228, P09055, P09958, P11584, P11835, P12606, P12607, P16144, P18563, P18564, P23188, P23229, P23377, P26007, P26010, P26011, P29317, P32592, P49134, P53712, P53713, P53714, P97278, Q13753, Q1KL86, Q1RPR6, Q27874, Q28193, Q29052, Q2VJ42

Diamond homologs: F1MMS9, P05555, P17852, P23229, P26006, P26007, P80108, P80109, Q13683, Q61738, Q61739, Q62470, Q63258, Q8R2H5, A2ARA8, O70362, O75578, P08514, P08648, P11688, P12080, P20701, P26009, P34446, P38570, P53708, Q00651, Q06274, Q13797, Q24247, Q27977, Q60677, Q91687, Q9QUM0, Q9W1M8, P13612, P06756, P43406, P47014, Q03600

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
PMP22	“up-regulates quantity by expression”	ITGA6	“transcriptional regulation”
ITGA6	“up-regulates activity”	PMP22	binding
ITGA6	“form complex”	“A6/b1 integrin”	binding
ITGA6	“form complex”	“A6/b4 integrin”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 132 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
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	6	28.1×	3e-05
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	8	8.3×	4e-04
ER-Phagosome pathway	5	7.7×	5e-03
Extracellular matrix organization	7	5.3×	5e-03
Neutrophil degranulation	12	3.3×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of natural killer cell mediated cytotoxicity	5	24.4×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	31
Likely pathogenic	19
Uncertain significance	253
Likely benign	368
Benign	76

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1047995	NM_000210.4(ITGA6):c.1286C>A (p.Ser429Ter)	Pathogenic
1179120	NM_000210.4(ITGA6):c.915del (p.His305fs)	Pathogenic
14745	NM_000210.4(ITGA6):c.809del (p.Ser270fs)	Pathogenic
1526407	NM_000210.4(ITGA6):c.388-5T>G	Pathogenic
1526408	NM_000210.4(ITGA6):c.387G>T (p.Val129=)	Pathogenic
1526409	NM_000210.4(ITGA6):c.2506-1G>C	Pathogenic
2694533	NM_000210.4(ITGA6):c.2564G>A (p.Trp855Ter)	Pathogenic
2706237	NM_000210.4(ITGA6):c.1102del (p.Arg368fs)	Pathogenic
2707606	NM_000210.4(ITGA6):c.2211_2212del (p.Cys737_Glu738delinsTer)	Pathogenic
2719334	NM_000210.4(ITGA6):c.998_999del (p.Ile333fs)	Pathogenic
2747696	NM_000210.4(ITGA6):c.1857dup (p.His620fs)	Pathogenic
2755501	NM_000210.4(ITGA6):c.2769C>G (p.Tyr923Ter)	Pathogenic
2759876	NM_000210.4(ITGA6):c.1684_1685del (p.Cys562fs)	Pathogenic
2768672	NM_000210.4(ITGA6):c.2399del (p.Ser800fs)	Pathogenic
2770277	NM_000210.4(ITGA6):c.1150_1151del (p.Ile384fs)	Pathogenic
2781938	NM_000210.4(ITGA6):c.377del (p.Gly126fs)	Pathogenic
2801101	NM_000210.4(ITGA6):c.1612C>T (p.Gln538Ter)	Pathogenic
2836427	NM_000210.4(ITGA6):c.3184C>T (p.Gln1062Ter)	Pathogenic
2836988	NC_000002.12:g.172488124AG[1]	Pathogenic
2839510	NM_000210.4(ITGA6):c.88G>T (p.Glu30Ter)	Pathogenic
2840417	NM_000210.4(ITGA6):c.2623_2632del (p.Gly875fs)	Pathogenic
2857384	NM_000210.4(ITGA6):c.880del (p.Arg294fs)	Pathogenic
2860683	NM_000210.4(ITGA6):c.890_891insT (p.Lys297fs)	Pathogenic
2861210	NM_000210.4(ITGA6):c.372dup (p.Gly125fs)	Pathogenic
3247459	NC_000002.11:g.(?173292517)(173292718_?)del	Pathogenic
3247460	NC_000002.11:g.(?173330247)(173330411_?)del	Pathogenic
3247461	NC_000002.11:g.(?173332189)(173332308_?)del	Pathogenic
3631021	NM_000210.4(ITGA6):c.1482del (p.Ile495fs)	Pathogenic
3646132	NM_000210.4(ITGA6):c.1660_1661del (p.Leu554fs)	Pathogenic
3721645	NM_000210.4(ITGA6):c.2742del (p.Lys914fs)	Pathogenic

SpliceAI

4072 predictions. Top by Δscore:

Variant	Effect	Δscore
2:172427967:GGCT:G	donor_gain	1.0000
2:172427968:GCT:G	donor_gain	1.0000
2:172427968:GCTG:G	donor_gain	1.0000
2:172427971:G:GG	donor_gain	1.0000
2:172465531:A:AG	acceptor_gain	1.0000
2:172465537:A:AG	acceptor_gain	1.0000
2:172465538:G:GG	acceptor_gain	1.0000
2:172465538:GGTT:G	acceptor_gain	1.0000
2:172465659:CGATG:C	donor_gain	1.0000
2:172465660:GATG:G	donor_gain	1.0000
2:172465660:GATGG:G	donor_gain	1.0000
2:172465661:ATG:A	donor_gain	1.0000
2:172465662:TG:T	donor_gain	1.0000
2:172465663:GG:G	donor_gain	1.0000
2:172465664:G:GA	donor_loss	1.0000
2:172465664:G:GG	donor_gain	1.0000
2:172465665:T:G	donor_loss	1.0000
2:172467479:A:AG	acceptor_gain	1.0000
2:172467479:AGCT:A	acceptor_gain	1.0000
2:172467480:G:GG	acceptor_gain	1.0000
2:172467480:GCT:G	acceptor_gain	1.0000
2:172467480:GCTG:G	acceptor_gain	1.0000
2:172474261:GA:G	donor_gain	1.0000
2:172475118:CCCAG:C	donor_loss	1.0000
2:172475119:CCAG:C	donor_loss	1.0000
2:172475120:CAG:C	donor_loss	1.0000
2:172475121:AG:A	donor_loss	1.0000
2:172475122:GGTA:G	donor_loss	1.0000
2:172475123:GTAG:G	donor_loss	1.0000
2:172475124:T:A	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000007407 (2:172431780 G>C), RS1000039594 (2:172495381 A>G), RS1000060806 (2:172474330 T>C), RS1000130457 (2:172484763 T>A,C), RS1000165777 (2:172489007 C>G,T), RS1000167864 (2:172426312 G>A), RS1000236964 (2:172457986 C>T), RS1000287309 (2:172444763 C>G,T), RS1000412643 (2:172438900 A>G), RS1000430733 (2:172506028 T>A,C), RS1000484660 (2:172505729 CTTTT>C,CTTTTTTTTT), RS1000493564 (2:172461767 G>A), RS1000503042 (2:172499304 G>A), RS1000570066 (2:172490310 G>A), RS1000572576 (2:172446889 T>C)

Disease associations

OMIM: gene MIM:147556 | disease phenotypes: MIM:226730, MIM:226650, MIM:619817

GenCC curated gene-disease

Disease	Classification	Inheritance
junctional epidermolysis bullosa with pyloric atresia	Strong	Autosomal recessive

Mondo (5): junctional epidermolysis bullosa with pyloric atresia (MONDO:0009183), junctional epidermolysis bullosa (MONDO:0017612), epidermolysis bullosa, junctional 6, with pyloric atresia (MONDO:0859233), epidermolysis bullosa (MONDO:0006541), childhood-onset schizophrenia (MONDO:0957430)

Orphanet (3): Junctional epidermolysis bullosa with pyloric atresia (Orphanet:79403), Junctional epidermolysis bullosa (Orphanet:305), Childhood-onset schizophrenia (Orphanet:641496)

HPO phenotypes

42 total (30 of 42 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000070	Ureterocele
HP:0000075	Renal duplication
HP:0000110	Renal dysplasia
HP:0000126	Hydronephrosis
HP:0000656	Ectropion
HP:0000790	Hematuria
HP:0001030	Fragile skin
HP:0001056	Milia
HP:0001057	Aplasia cutis congenita
HP:0001059	Pterygium
HP:0001060	Axillary pterygium
HP:0001075	Atrophic scars
HP:0001522	Death in infancy
HP:0001561	Polyhydramnios
HP:0001581	Recurrent skin infections
HP:0001798	Anonychia
HP:0002017	Nausea and vomiting
HP:0002032	Esophageal atresia
HP:0002041	Intractable diarrhea
HP:0002164	Nail dysplasia
HP:0002804	Arthrogryposis multiplex congenita
HP:0003270	Abdominal distention
HP:0003341	Lamina lucida cleavage
HP:0003577	Congenital onset
HP:0003811	Neonatal death
HP:0004399	Congenital pyloric atresia
HP:0006297	Enamel hypoplasia
HP:0007385	Aplasia cutis congenita of scalp
HP:0007589	Aplasia cutis congenita on trunk or limbs

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000488_2	Prostate cancer	9.000000e-23
GCST001868_9	Alzheimer’s disease biomarkers	6.000000e-07
GCST003098_23	Diabetic kidney disease	3.000000e-06
GCST006038_4	Food allergy	2.000000e-08
GCST006039_1	Peanut allergy	9.000000e-08
GCST008860_12	Prostate cancer	3.000000e-08
GCST009391_1238	Metabolite levels	6.000000e-06
GCST010796_4658	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005194	amyloid-beta measurement
EFO:0007016	food allergy measurement
EFO:0007017	peanut allergy measurement
EFO:0010422	triacylglycerol 54:4 measurement
EFO:0004327	electrocardiography

MeSH disease descriptors (3)

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
D016109	Epidermolysis Bullosa, Junctional	C16.131.831.493.170; C16.320.850.275.170; C17.800.804.493.170; C17.800.827.275.170; C17.800.865.410.170
C535377	Epidermolysis bullosa with pyloric atresia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3716 (SINGLE PROTEIN), CHEMBL3885596 (PROTEIN COMPLEX)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — Integrins

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.79	Kd	16.02	nM	CHEMBL3752910
7.79	ED50	16.3	nM	CHEMBL3752910
5.15	Kd	7062	nM	CHEMBL5653589
5.14	ED50	7186	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 6 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148608: Binding affinity to human ITGA6 incubated for 45 mins by Kinobead based pull down assay	kd	0.0160	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148608: Binding affinity to human ITGA6 incubated for 45 mins by Kinobead based pull down assay	kd	7.0618	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	5
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	4
Estradiol	affects cotreatment, increases expression, decreases expression	4
Tretinoin	increases expression, increases reaction, affects cotreatment, decreases expression	4
Valproic Acid	affects expression, affects methylation, increases expression	4
methylmercuric chloride	decreases expression	3
trichostatin A	decreases expression, affects cotreatment	3
sodium arsenite	decreases expression	3
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression, increases expression	3
Particulate Matter	decreases expression, increases abundance, increases expression	3
bisphenol A	increases expression, decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	2
Arsenic Trioxide	increases expression, affects cotreatment, decreases expression	2
Cadmium	decreases expression, increases expression, affects reaction	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	2
Aflatoxin B1	decreases methylation, increases expression	2
Cadmium Chloride	increases expression	2
aristolochic acid I	decreases expression	1
napabucasin	decreases expression	1
2,4,6-tribromophenol	increases expression	1
bufotalin	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
pirinixic acid	affects binding, increases activity, increases expression	1
deoxynivalenol	decreases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, increases expression, affects localization	1
decabromobiphenyl ether	increases expression	1
terbufos	increases methylation	1
o,p’-DDT	increases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1013693	Binding	Binding affinity to integrin alpha6 expressed in human K562 cells at 1 uM for 30 mins by flow cytometry	Discovery of targeting ligands for breast cancer cells using the one-bead one-compound combinatorial method. — J Med Chem

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B0YU	Abcam SW480 ITGA6 KO	Cancer cell line	Male
CVCL_B1UW	Abcam HeLa ITGA6 KO	Cancer cell line	Female
CVCL_E0FI	Ubigene HeLa ITGA6 KO	Cancer cell line	Female
CVCL_ST31	HAP1 ITGA6 (-) 1	Cancer cell line	Male
CVCL_ST32	HAP1 ITGA6 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

70 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
NCT00587223	PHASE3	TERMINATED	Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB)
NCT06917690	PHASE3	RECRUITING	A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
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)
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
NCT03578029	PHASE2	TERMINATED	Evaluation of the Safety and Efficacy Study of RGN-137 Topical Gel for Junctional and Dystrophic Epidermolysis Bullosa
NCT04908215	PHASE2	COMPLETED	INM-755 (Cannabinol) Cream for Treatment of Epidermolysis Bullosa
NCT06594393	PHASE2	RECRUITING	A Phase 2 Study of TCP-25 Gel in Patients With Epidermolysis Bullosa, STEP-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.
NCT03472287	PHASE1	COMPLETED	To Evaluate the Pharmacokinetic of Diacerein and Rhein After Maximum Use in Patients With Epidermolysis Bullosa (EB)
NCT06713434	PHASE1	ACTIVE_NOT_RECRUITING	Pilot Study of ELK-003 Eye Drops for Treating Ocular Manifestations of Epidermolysis Bullosa
NCT00014729	PHASE1	COMPLETED	Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa
NCT02793960	PHASE1	COMPLETED	Topical BPM31510 3.0% Cream in Patients With Epidermolysis Bullosa
NCT05378997	PHASE1	COMPLETED	Safety, Tolerability, and Pharmacokinetics of Ascending Topical Doses of TCP-25 Applied to Epidermal Suction Blister Wounds, Non-Healing Leg Ulcers and Patients With Dystrophic Epidermolysis Bullosa.
NCT03490331	PHASE1/PHASE2	TERMINATED	Clinical Trial to Assess Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified in Patients With JEB (HOLOGENE17)
NCT03526159	PHASE1/PHASE2	RECRUITING	Gentamicin for Junctional Epidermolysis Bullosa
NCT04140786	PHASE1/PHASE2	UNKNOWN	Optimizing IV Gentamicin in JEB