Aliases for ITGB4 Gene
External Ids for ITGB4 Gene
Previous GeneCards Identifiers for ITGB4 Gene
Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for ITGB4 Gene
ITGB4 (Integrin Subunit Beta 4) is a Protein Coding gene. Diseases associated with ITGB4 include Epidermolysis Bullosa, Junctional, With Pyloric Stenosis and Epidermolysis Bullosa, Junctional, Non-Herlitz Type. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Focal Adhesion. GO annotations related to this gene include receptor activity and G-protein coupled receptor binding. An important paralog of this gene is ITGB1.
UniProtKB/Swiss-Prot for ITGB4 Gene
Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760).