The protein expressed by the ERBB2 gene is a protein tyrosine kinase involved in several cell surface receptor complexes, requiring a coreceptor for ligand binding. It is an essential component of a neuregulin-receptor complex, although neuregulins do not bind to it directly. GP30 is a potential ligand for this receptor. ERBB2 regulates the outgrowth and stabilization of peripheral microtubules (MTs) via the MEMO1-RHOA-DIAPH1 signaling pathway, which, upon activation, phosphorylates and inhibits GSK3B at the cell membrane. This prevents APC and CLASP2 phosphorylation, allowing their association with the cell membrane, facilitating MACF1 localization necessary for microtubule capture and stabilization. In the nucleus, ERBB2 is involved in transcriptional regulation, associating with the 5'-TCAAATTC-3' sequence in the PTGS2/COX-2 promoter to activate transcription. It is implicated in the transcriptional activation of CDKN1A, involving STAT3 and SRC, and participates in the transcription of rRNA genes by RNA Pol I, thereby enhancing protein synthesis and cell growth. This supplementary information is collated from multiple sources and compiled automatically.
Glioma
GLM
Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
None
The gene represented in this entry is involved in disease pathogenesis.
Ovarian cancer
OC
The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease.
None
The gene represented in this entry is involved in disease pathogenesis.
Lung cancer
LNCR
A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.
None
The gene represented in this entry is involved in disease pathogenesis.
Gastric cancer
GASC
A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.
None
The protein represented in this entry is involved in disease pathogenesis.
Chromosomal aberrations involving ERBB2 may be a cause gastric cancer. Deletions within 17q12 region producing fusion transcripts with CDK12, leading to CDK12-ERBB2 fusion leading to truncated CDK12 protein not in-frame with ERBB2.
Visceral neuropathy, familial, 2, autosomal recessive
VSCN2
An autosomal recessive disorder characterized by intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Patients also show peripheral axonal neuropathy, hypotonia, mild developmental delay, unilateral ptosis, and sensorineural hearing loss.
None
The disease is caused by variants affecting the gene represented in this entry.
Autophosphorylated. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit (Probable). Ligand-binding increases phosphorylation on tyrosine residues (PubMed:27134172, PubMed:33497358). Signaling via SEMA4C promotes phosphorylation at Tyr-1248 (PubMed:17554007). Dephosphorylated by PTPN12 (PubMed:27134172).
Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily.
Expressed in a variety of tumor tissues including primary breast tumors and tumors from small bowel, esophagus, kidney and mouth.
CD340, HER2, MLN19, NEU, NGL, ERBB2, Receptor tyrosine-protein kinase erbB-2, Metastatic lymph node gene 19 protein, Proto-oncogene Neu, Proto-oncogene c-ErbB-2, Tyrosine kinase-type cell surface receptor HER2, p185erbB2, MLN 19
Proteins
Oncology
137910Da
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