Disease table of EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE OMIM ID: 226650

Gene-disease associations table

GeneAssociated with EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
LAMC2ClinVar, OMIMHGNC link1q25.32226650, 226700
LAMB3ClinVar, OMIM, HUMSAVARHGNC link1q32.23226650, PS104500, 226700
LAMA3ClinVar, OMIMHGNC link18q11.23226650, 226700, 245660
ITGB4ClinVar, OMIM, HUMSAVARHGNC link17q25.13226650, 131800, 226730
COL17A1ClinVar, OMIM, HUMSAVARHGNC link10q25.12226650, 122400

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1q2LAMB3, LAMC2
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
12LAMB3, LAMC2
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
ZEB1NO12EPCAM, GRHL2, BCL6, COL4A3, AR, LAMC2, CDH1, SPRR1B, CXADR, MUC1, ITGB4, PKP32ITGB4, LAMC2
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
LAMC2YES1ZEB10
LAMA3YES2KLF4, EP3000
ITGB4YES1ZEB10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
LAMC2LAMB3No2COL7A1, PDIA3
ITGB4COL17A1Yes2EGFR, DST

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
LAMC2LAMB3Yesbinding61RAC1, ITGB6, LAMA3, MMP14, ITGA3, ITGA2B, SRC, MMP2, CDC42, PTK2, PAK6, DAG1, BMP1, ITGA9, SV2C, CHRM1, ITGA6, CHRNA1, ITGA5, LAMB1, ACTA1, RPSA, PRNP, CD44, ITGA11, LAMA2, ITGAV, ITGA4, PAK1, CD151, COL7A1, ITGB5, ARHGEF6, PAK3, MMP20, LAMA5, ITGA7, UTRN, LAMB2, PAK4, PXN, ITGB7, ITGB4, ITGA2, GIT2, ITGB8, CTTN, ITGA8, ARHGEF7, SV2B, RAPSN, COL17A1, PAK2, LAMC3, ITGA1, MMP7, PAK7, ITGB1, LAMC1, MMP19, PLEC
LAMC2LAMA3Yesbinding61PAK6, RAC1, ITGB6, RAPSN, MMP14, ITGA3, ITGA2B, SRC, MMP2, CDC42, PTK2, LAMB3, DAG1, ITGA11, ITGA9, SV2C, CHRM1, ITGA6, CHRNA1, ITGA5, LAMB1, ACTA1, RPSA, PRNP, CD44, BMP1, LAMA2, ITGA4, PAK1, CD151, ITGAV, ITGB5, ARHGEF6, PAK3, MMP20, LAMA5, ITGA7, UTRN, LAMB2, PAK4, PXN, ITGB7, ITGB4, ITGA2, GIT2, ITGB8, CTTN, ITGA8, ARHGEF7, SV2B, COL17A1, PAK2, LAMC3, ITGA1, MMP7, PAK7, ZEB1, ITGB1, LAMC1, MMP19, PLEC
LAMC2ITGB4Yesactivation, binding30ITGB6, ITGA3, ITGA2B, PXN, ITGAV, LAMB3, ITGA11, ITGA9, ITGA6, ITGA5, LAMB1, LAMA3, PTK2, LAMA2, ITGA4, CD151, LAMA5, ITGA7, LAMB2, SRC, ITGB7, ITGA2, ITGB8, ITGB1, ITGA8, COL17A1, LAMC3, ITGA1, LAMC1, PLEC
LAMC2COL17A1Yesbinding7CD151, COL7A1, ITGA6, LAMA3, LAMB3, ITGB4, PLEC
LAMB3LAMA3Yesbinding60RAC1, ITGB6, RAPSN, MMP14, ITGA3, ITGA2B, SRC, MMP2, CDC42, PTK2, PAK6, DAG1, ITGA11, ITGA9, SV2C, CHRM1, ITGA6, CHRNA1, ITGA5, LAMB1, ACTA1, RPSA, PRNP, CD44, BMP1, LAMA2, LAMC3, ITGA4, PAK1, CD151, ITGAV, ITGB5, ARHGEF6, PAK3, MMP20, LAMA5, ITGA7, UTRN, LAMB2, PAK4, PXN, ITGB7, ITGB4, ITGA2, GIT2, ITGB8, CTTN, ITGA8, ARHGEF7, SV2B, COL17A1, PAK2, LAMC2, ITGA1, MMP7, PAK7, ITGB1, LAMC1, MMP19, PLEC
LAMB3ITGB4Yesactivation, binding30ITGB6, ITGA3, ITGA2B, PXN, ITGAV, ITGA11, ITGA9, ITGA6, ITGA5, LAMB1, LAMA3, PTK2, LAMA2, LAMC3, ITGA4, CD151, LAMA5, ITGA7, LAMB2, SRC, ITGB7, ITGA2, ITGB8, ITGB1, ITGA8, COL17A1, LAMC2, ITGA1, LAMC1, PLEC
LAMB3COL17A1Yesbinding7CD151, COL7A1, ITGA6, LAMA3, LAMC2, ITGB4, PLEC
LAMA3ITGB4Yesactivation, binding30ITGB6, ITGA3, ITGA2B, PXN, ITGAV, LAMB3, ITGA11, ITGA9, ITGA6, ITGA5, LAMB1, PTK2, LAMA2, LAMC3, ITGA4, CD151, LAMA5, ITGA7, LAMB2, SRC, ITGB7, ITGA2, ITGB8, ITGB1, ITGA8, COL17A1, LAMC2, ITGA1, LAMC1, PLEC
LAMA3COL17A1Yesbinding6CD151, ITGA6, LAMC2, LAMB3, ITGB4, PLEC
ITGB4COL17A1Yesbinding21CD151, COL24A1, COL2A1, COL6A2, ITGA6, COL6A1, COL5A2, LAMA3, COL5A3, COL27A1, COL11A1, LAMC2, COL4A1, COL6A3, PLEC, COL4A2, LAMB3, COL4A6, COL5A1, DST, COL4A5

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
LAMA3LAMB3yes, complexLaminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. [UniProt]
LAMA3LAMC2yes, complexLaminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. [UniProt]
LAMB3LAMC2yes, complexLaminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
ECM-receptor interactionhsa045126.094ITGB4, LAMB3, LAMA3, LAMC2
Focal adhesionhsa045104.924ITGB4, LAMB3, LAMA3, LAMC2
PI3K-Akt signaling pathwayhsa041514.214ITGB4, LAMB3, LAMA3, LAMC2
Toxoplasmosishsa051455.713LAMB3, LAMA3, LAMC2
Amoebiasishsa051465.823LAMB3, LAMA3, LAMC2
Pathways in cancerhsa052003.983LAMB3, LAMA3, LAMC2
Small cell lung cancerhsa052226.173LAMB3, LAMA3, LAMC2

NET-GE enrichment

Term New enriched termICP valueGenes
Cancers: Specific typesNEW4.10.047ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Cellular communityNEW3.570.006ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Pathways in cancer (hsa05200) -3.980.001ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Signaling molecules and interactionNEW3.090.022ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Amoebiasis (hsa05146) -5.820.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Small cell lung cancer (hsa05222) -6.170.001COL17A1, LAMB3, LAMA3, LAMC2
Focal adhesion (hsa04510) -4.920.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Toxoplasmosis (hsa05145) -5.710.002LAMB3, LAMA3, LAMC2
ECM-receptor interaction (hsa04512) -6.090.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Infectious diseases: ParasiticNEW4.460.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
PI3K-Akt signaling pathway (hsa04151) -4.210.001ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Cell junction organizationR-HSA-4467286.515ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Cell-Cell communicationR-HSA-15009315.875ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Extracellular matrix organizationR-HSA-14742444.915ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Collagen formationR-HSA-14742906.565ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.25ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Type I hemidesmosome assemblyR-HSA-4461079.525ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Non-integrin membrane-ECM interactionsR-HSA-30001717.14ITGB4, LAMB3, LAMA3, LAMC2
Laminin interactionsR-HSA-30001578.084ITGB4, LAMB3, LAMA3, LAMC2
Degradation of the extracellular matrixR-HSA-14742286.114COL17A1, LAMB3, LAMA3, LAMC2
Anchoring fibril formationR-HSA-22143209.083LAMB3, LAMA3, LAMC2

NET-GE enrichment

Term New enriched termICP valueGenes
Laminin interactions (R-HSA-3000157) -8.080.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Anchoring fibril formation (R-HSA-2214320) -9.080.0LAMB3, LAMA3, LAMC2
Cell junction organization (R-HSA-446728) -6.510.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.0COL17A1, LAMB3, LAMA3, LAMC2
Cell-Cell communication (R-HSA-1500931) -5.870.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Extracellular matrix organization (R-HSA-1474244) -4.910.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Collagen formation (R-HSA-1474290) -6.560.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Syndecan interactions (R-HSA-3000170) NEW8.230.003COL17A1, ITGB4
Non-integrin membrane-ECM interactions (R-HSA-3000171) -7.10.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090) -7.20.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
Type I hemidesmosome assembly (R-HSA-446107) -9.520.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.185ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
protein binding (GO:0005515) 0.464ITGB4, LAMB3, LAMA3, COL17A1
receptor binding (GO:0005102) 2.432ITGB4, LAMA3
structural molecule activity (GO:0005198) 3.12LAMB3, LAMA3

NET-GE enrichment

Term New enriched termICP valueGenes
integrin binding (GO:0005178) NEW5.070.001COL17A1, LAMB3, ITGB4
cell adhesion molecule binding (GO:0050839) NEW4.50.008COL17A1, LAMB3, ITGB4
structural molecule activity (GO:0005198) -3.10.015ITGB4, LAMB3, LAMA3, COL17A1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.365ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
cellular component assembly (GO:0022607) 2.145ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
hemidesmosome assembly (GO:0031581) 7.245ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
cell junction organization (GO:0034330) 4.515ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
cellular component organization (GO:0016043) 1.245ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
cell-substrate junction assembly (GO:0007044) 5.995ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
single-organism cellular process (GO:0044763) 0.655ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
single-organism process (GO:0044699) 0.485ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
cell adhesion (GO:0007155) 2.825ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
cellular process (GO:0009987) 0.265ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
biological adhesion (GO:0022610) 2.815ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
cell junction assembly (GO:0034329) 4.865ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
cellular component organization or biogenesis (GO:0071840) 1.225ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
anatomical structure development (GO:0048856) 1.585ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
epidermis development (GO:0008544) 5.044COL17A1, LAMB3, LAMA3, LAMC2
tissue development (GO:0009888) 3.274COL17A1, LAMB3, LAMA3, LAMC2
extracellular matrix organization (GO:0030198) 4.014ITGB4, LAMB3, LAMA3, LAMC2
extracellular structure organization (GO:0043062) 4.04ITGB4, LAMB3, LAMA3, LAMC2
cellular developmental process (GO:0048869) 1.823ITGB4, LAMB3, LAMA3
cell differentiation (GO:0030154) 2.143ITGB4, LAMB3, LAMA3
biological regulation (GO:0065007) 0.393ITGB4, LAMA3, COL17A1
cellular component disassembly (GO:0022411) 3.523LAMB3, LAMA3, LAMC2
extracellular matrix disassembly (GO:0022617) 5.383LAMB3, LAMA3, LAMC2
regulation of biological process (GO:0050789) 0.453ITGB4, LAMA3, COL17A1
cell-matrix adhesion (GO:0007160) 5.132COL17A1, ITGB4
cell-substrate adhesion (GO:0031589) 4.752COL17A1, ITGB4
endodermal cell differentiation (GO:0035987) 6.42LAMB3, LAMA3
regulation of cellular process (GO:0050794) 0.52ITGB4, LAMA3

NET-GE enrichment

Term New enriched termICP valueGenes
cellular component assembly (GO:0022607) -2.140.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
biological adhesion (GO:0022610) -2.810.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
anatomical structure development (GO:0048856) -1.580.005ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
endodermal cell differentiation (GO:0035987) -6.40.021LAMB3, LAMA3
hemidesmosome assembly (GO:0031581) -7.240.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
epithelium development (GO:0060429) NEW4.570.0COL17A1, LAMB3, LAMA3, LAMC2
cell junction organization (GO:0034330) -4.510.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
tissue development (GO:0009888) -3.270.001COL17A1, LAMB3, LAMA3, LAMC2
cellular component organization (GO:0016043) -1.240.048ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
cell-matrix adhesion (GO:0007160) -5.130.027COL17A1, ITGB4
cell-substrate junction assembly (GO:0007044) -5.990.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
cellular component disassembly (GO:0022411) -3.520.009COL17A1, LAMB3, LAMA3, LAMC2
extracellular structure organization (GO:0043062) -4.00.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
cell adhesion (GO:0007155) -2.820.01ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
epidermis development (GO:0008544) -5.040.0COL17A1, LAMB3, LAMA3, LAMC2
extracellular matrix disassembly (GO:0022617) -5.380.0COL17A1, LAMB3, LAMA3, LAMC2
cell junction assembly (GO:0034329) -4.860.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
extracellular matrix organization (GO:0030198) -4.010.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.515ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
macromolecular complex (GO:0032991) 1.355ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
extracellular region part (GO:0044421) 1.575ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
extracellular region (GO:0005576) 2.184COL17A1, LAMB3, LAMA3, LAMC2
basement membrane (GO:0005604) 5.344COL17A1, LAMB3, LAMA3, LAMC2
extracellular matrix component (GO:0044420) 4.974COL17A1, LAMB3, LAMA3, LAMC2
proteinaceous extracellular matrix (GO:0005578) 4.014COL17A1, LAMB3, LAMA3, LAMC2
extracellular matrix (GO:0031012) 3.814COL17A1, LAMB3, LAMA3, LAMC2
laminin complex (GO:0043256) 7.723LAMB3, LAMA3, LAMC2
intracellular part (GO:0044424) 0.283COL17A1, ITGB4, LAMC2
membrane (GO:0016020) 0.683COL17A1, ITGB4, LAMC2
cell part (GO:0044464) 0.113COL17A1, ITGB4, LAMC2
laminin-5 complex (GO:0005610) 8.72LAMB3, LAMA3
extracellular organelle (GO:0043230) 1.892ITGB4, LAMA3
vesicle (GO:0031982) 1.642ITGB4, LAMA3
plasma membrane part (GO:0044459) 1.952COL17A1, ITGB4
integral component of membrane (GO:0016021) 1.142COL17A1, ITGB4
extracellular exosome (GO:0070062) 1.892ITGB4, LAMA3
membrane-bounded vesicle (GO:0031988) 1.712ITGB4, LAMA3
cytoplasmic part (GO:0044444) 0.822COL17A1, LAMC2
cell junction (GO:0030054) 2.752COL17A1, ITGB4
membrane-bounded organelle (GO:0043227) 0.472ITGB4, LAMA3
plasma membrane (GO:0005886) 1.392COL17A1, ITGB4
membrane part (GO:0044425) 0.952COL17A1, ITGB4
extracellular vesicle (GO:1903561) 1.892ITGB4, LAMA3
hemidesmosome (GO:0030056) 7.862COL17A1, ITGB4
organelle (GO:0043226) 0.42ITGB4, LAMA3
intrinsic component of membrane (GO:0031224) 1.132COL17A1, ITGB4
cell-substrate junction (GO:0030055) 3.822COL17A1, ITGB4

NET-GE enrichment

Term New enriched termICP valueGenes
protein complex (GO:0043234) -1.510.021ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
laminin-5 complex (GO:0005610) -8.70.0LAMB3, LAMA3, LAMC2
basement membrane (GO:0005604) -5.340.0ITGB4, LAMB3, LAMA3, COL17A1
macromolecular complex (GO:0032991) -1.350.05ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
hemidesmosome (GO:0030056) -7.860.0COL17A1, ITGB4
extracellular region (GO:0005576) -2.180.019ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
laminin complex (GO:0043256) -7.720.0LAMB3, LAMA3, LAMC2
extracellular matrix part (GO:0044420) -4.970.0ITGB4, LAMB3, LAMA3, COL17A1, LAMC2
extracellular region part (GO:0044421) -1.570.013ITGB4, LAMB3, LAMA3, COL17A1, LAMC2