ERBB4

Receptor tyrosine-protein kinase erbB-4 is an is_associated_with::enzyme that in humans is encoded by the ERBB4 is_associated_with::gene. Alternatively spliced variants that encode different protein isoforms have been described; however, not all variants have been fully characterized.

Function
Receptor tyrosine-protein kinase erbB-4 is a is_associated_with::receptor tyrosine kinase that is a member of the epidermal growth factor receptor subfamily. ERBB4 is a single-pass type I transmembrane protein with multiple is_associated_with::furin-like cysteine rich domains, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a is_associated_with::PDZ domain binding motif. The protein binds to and is activated by is_associated_with::neuregulins-2 and -3, is_associated_with::heparin-binding EGF-like growth factor and is_associated_with::betacellulin. Ligand binding induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment.

Clinical significance
Mutations in this gene have been associated with cancer. Other is_associated_with::single-nucleotide polymorphisms and a risk haplotype have been linked to is_associated_with::schizophrenia. is_associated_with::Single-nucleotide polymorphisms in ERBB4 have also been found in a study of patients with familial is_associated_with::Amyotrophic lateral sclerosis type 19

Interactions
ERBB4 has been shown to interact with:
 * is_associated_with::DLG4
 * is_associated_with::NRG1,
 * is_associated_with::STAT5A, and
 * is_associated_with::YAP1.