ITGB4 (Integrin beta-4) variants and mutations

ITGB4 (also known as Integrin beta-4) is a human protein-coding gene encoding an integrin beta-4 protein. It pairs with alpha6 integrin in hemidesmosomes to anchor epithelial cells to laminin-rich basement membranes. Biallelic loss-of-function variants can cause junctional epidermolysis bullosa with pyloric atresia and severe epithelial fragility. This analysis covers 2,379 ITGB4 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa - pyloric atresia, and epidermolysis bullosa, junctional 5A, intermediate. Example ITGB4 variants include A2V, A2S, and G3R.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ITGB4 variants

Examples include A2V, A2S, G3R, P4A, P4L, P4S, P4T, R5C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.