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

Gene: MIR4728

Alternate names for this Gene: -

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: microRNA 4728

Type of Gene: ncRNA

rs28933368 in ERBB2;MIR4728 gene and GLIOMA SUSCEPTIBILITY 1 PMID 15457249 2004 Lung cancer: intragenic ERBB2 kinase mutations in tumours.

rs1057519857 in ERBB2;MIR4728 gene and Mammary Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 23220880 2013 Activating HER2 mutations in HER2 gene amplification negative breast cancer.

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

rs397516976 in ERBB2;MIR4728 gene and Non-Small Cell Lung Carcinoma PMID 15457249 2004 Lung cancer: intragenic ERBB2 kinase mutations in tumours.

PMID 22761469 2012 Prevalence, clinicopathologic associations, and molecular spectrum of ERBB2 (HER2) tyrosine kinase mutations in lung adenocarcinomas.

PMID 15753357 2005 Somatic mutations of the HER2 kinase domain in lung adenocarcinomas.

PMID 16863509 2006 EGFR point mutation in non-small cell lung cancer is occasionally accompanied by a second mutation or amplification.

PMID 16825508 2006 Lung adenocarcinoma harboring mutations in the ERBB2 kinase domain.

PMID 16775247 2006 HER2 mutation and response to trastuzumab therapy in non-small-cell lung cancer.