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]

  • Nucleotide binding
  • Enables RNA polymerase I core binding
  • Protein kinase activity
  • Enables protein serine/threonine/tyrosine kinase activity
  • Enables protein tyrosine kinase activity
  • Located in nucleus
  • Cytoplasm
  • Endosome
  • Located in early endosome
  • Located in cytosol
  • Involved in positive regulation of protein phosphorylation
  • Involved in protein phosphorylation
  • Involved in signal transduction
  • Acts upstream of or within cell surface receptor signaling pathway
  • Involved in enzyme linked receptor protein signaling pathway
  • Glioma Susceptibility 1
  • Ovarian Cancer
  • Gastric Cancer
  • Lung Cancer
  • Lung Cancer Susceptibility 3
  • Hirschsprung Disease 1
  • Breast Cancer
  • Colorectal Cancer
  • Uterine Carcinosarcoma
  • Pancreatic Adenocarcinoma
  • Ovary Adenocarcinoma
  • Mammary Paget’S Disease
  • Breast Fibroadenoma
  • Breast Ductal Carcinoma
  • Adenocarcinoma
  • Carcinosarcoma
  • Transitional Cell Carcinoma
  • Gastric Adenocarcinoma
  • Breast Carcinoma In Situ
  • Ovarian Serous Cystadenocarcinoma
  • Gastroesophageal Adenocarcinoma
  • Gastroesophageal Junction Adenocarcinoma
  • Female Breast Cancer
  • Breast Diseases
  • Suppression Of Tumorigenicity 12
  • Skin Melanoma
  • Ovarian Carcinosarcoma
  • Skin Squamous Cell Carcinoma
  • Abnormality of body height
  • Autosomal dominant inheritance
  • Abnormal morphology of female internal genitalia
  • Abnormality of the genital system
  • Abnormality of the urinary system
  • Abnormality of the genitourinary system
  • Abnormality of the ovary
  • Abnormality of the musculoskeletal system
  • Hearing abnormality
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormality of the peripheral nervous system
  • Increased level of L-fucose in urine
  • Abnormal urine metabolite level
  • Abnormality of the ear
  • Abnormality of the nervous system
  • Abnormality of the breast
  • Abnormal internal genitalia
  • Abnormality of the endocrine system
  • Abnormality of the thyroid gland
  • Abnormality of the skeletal system

ERBB2 Localizations – Subcellular Localization Database

Ribbon diagram of the Fab fragment of trastuzumab, a monoclonal antibody, bound to the extracellular domain of HER2. Created using Accelrys DS Visualizer Pro 1.6 and GIMP.

Gene Location