Gene table of ITGB4 : integrin subunit beta 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ITGB4	OMIM link	Number of associated genes	genes
226650	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	ITGB4, COL17A1, LAMB3, LAMA3, LAMC2
131800	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED	OMIM	link to OMIM	3	KRT14, ITGB4, KRT5
226730	EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	ITGB4, ITGA6

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
ECM-receptor interaction	hsa04512	6.09
Focal adhesion	hsa04510	4.92
Hypertrophic cardiomyopathy (HCM)	hsa05410	6.21
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	hsa05412	6.32
PI3K-Akt signaling pathway	hsa04151	4.21
Dilated cardiomyopathy	hsa05414	6.08
Regulation of actin cytoskeleton	hsa04810	4.9

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Laminin interactions	R-HSA-3000157	8.08
Cell junction organization	R-HSA-446728	6.51
Cell-Cell communication	R-HSA-1500931	5.87
Extracellular matrix organization	R-HSA-1474244	4.91
Collagen formation	R-HSA-1474290	6.56
Syndecan interactions	R-HSA-3000170	8.23
Non-integrin membrane-ECM interactions	R-HSA-3000171	7.1
Assembly of collagen fibrils and other multimeric structures	R-HSA-2022090	7.2
Type I hemidesmosome assembly	R-HSA-446107	9.52

Associated GO terms for Molecular function

GO term	GO ID	GO IC
insulin-like growth factor I binding	GO:0031994	7.25
growth factor binding	GO:0019838	4.89
molecular transducer activity	GO:0060089	2.32
neuregulin binding	GO:0038132	8.13
receptor activity	GO:0004872	2.32
protein binding	GO:0005515	0.46
G-protein coupled receptor binding	GO:0001664	4.18
insulin-like growth factor binding	GO:0005520	6.37
receptor binding	GO:0005102	2.43
binding	GO:0005488	0.18