Gene: ERBB2

Alternate names for this Gene: CD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1

Gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: erb-b2 receptor tyrosine kinase 2

Type of Gene: protein-coding

rs1057519787 in ERBB2 gene and Adenocarcinoma of lung (disorder) PMID 22908275 2012 Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519862 in ERBB2 gene and Adenocarcinoma of prostate PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1058808 in ERBB2 gene and Asthma PMID 21804549 2011 Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

PMID 20860503 2010 A large-scale, consortium-based genomewide association study of asthma.

PMID 29273806 2018 Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

rs121913469 in ERBB2 gene and Carcinoma of lung PMID 15457249 2004 Lung cancer: intragenic ERBB2 kinase mutations in tumours.

rs1057519816 in ERBB2 gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519890 in ERBB2 gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913468 in ERBB2 gene and Esophageal carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519816 in ERBB2 gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1136201 in ERBB2 gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs1057519862 in ERBB2 gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519787 in ERBB2 gene and Mammary Neoplasms PMID 23220880 2013 Activating HER2 mutations in HER2 gene amplification negative breast cancer.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 16397024 2006 Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 22046346 2011 Differential sensitivity of ERBB2 kinase domain mutations towards lapatinib.

PMID 18413839 2008 EXEL-7647 inhibits mutant forms of ErbB2 associated with lapatinib resistance and neoplastic transformation.

rs1057519816 in ERBB2 gene and Neoplasms PMID 22908275 2012 Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2.

rs1057519890 in ERBB2 gene and Papillary renal cell carcinoma, sporadic PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519816 in ERBB2 gene and Serous cystadenocarcinoma ovary PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519816 in ERBB2 gene and Squamous cell carcinoma of skin PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519816 in ERBB2 gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519816 in ERBB2 gene and Transitional cell carcinoma of bladder PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519816 in ERBB2 gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.