ERBB2, Official Symbol ERBB2provided by HGNC Official Full Name erb-b2 receptor tyrosine kinase 2provided by HGNC Primary source HGNC:HGNC:3430 See related Ensembl:ENSG00000141736 MIM:164870; AllianceGenome:HGNC:3430 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NEU; NGL; HER2; TKR1; CD340; HER-2; VSCN2; MLN 19; MLN-19; c-ERB2; c-ERB-2; HER-2/neu; p185(erbB2) Summary This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 34.7), skin (RPKM 30.2) and 24 other tissues See more Orthologs mouse all