ERBB4 (Entrez ID: 2066)

Entrez Gene ID 2066
Official Gene Symbol ERBB4 (GeneCards)
Full name erb-b2 receptor tyrosine kinase 4
Location 2q34
Other ids Vega : OTTHUMG00000133012
MIM : 600543
HGNC : HGNC:3432
Ensembl : ENSG00000178568
Other names HER4, ALS19, p180erbB4
Summary This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and 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. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

Variants

Found 115 variants in this database.