ERBB2


Official symbol

ERBB2

Official full name

Erb-b2 receptor tyrosine kinase 2

Gene ID

2064

Gene type

-

Other name

CD340, HER-2, HER-2/neu, HER2, MLN 19, NEU, NGL, TKR1

Gene location

Gene introduction

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]

Cancer pathway

The main pathways: Schematic of HER2 signaling pathway. Growth factor binding results HER2 heterodimerization and activation of the MAPK signaling pathway (RAS-RAF-MEK-ERK) and the PI3K pathway (PI3K-AKT-mTOR). The letter "K" within the schema denotes the tyrosine kinase domain.

Related to cancer

HER2 is a member of the human epidermal growth factor receptor (HER/EGFR/ERBB) family. Amplification or over-expression of this oncogene has been shown to play an important role in the development and progression of certain aggressive types of breast cancer. In recent years the protein has become an important biomarker and target of therapy for approximately 30% of breast cancer patients.It is strongly associated with increased disease recurrence and a poor prognosis.Over-expression is also known to occur in ovarian,stomach, adenocarcinoma of the lung and aggressive forms of uterine cancer, such as uterine serous endometrial carcinoma, e.g. HER-2 is over-expressed in approximately 7-34% of patients with gastric cancer and in 30% of salivary duct carcinomas.

Alteration in cancer

GenecDNA changeProtein changeLocation
ERBB2-p.775insYVMAChromosome 17
ERBB2-p.G776LChromosome 17

Related drugs in cancer

Drug nameOther nameProduct nameTypeGroups
Afatinib-GilotrifSmall MoleculeApproved
Osimertinib-TagrissoSmall MoleculeApproved
Trastuzumab-HerceptinSmall MoleculeApproved