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
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
rs1057519738 in
MIR4728;ERBB2 gene and
Adenocarcinoma of pancreas
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519738 in
MIR4728;ERBB2 gene and
Colorectal Neoplasms
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519738 in
MIR4728;ERBB2 gene and
Gallbladder Carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519738 in
MIR4728;ERBB2 gene and
Gastric Adenocarcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 18339846 2008 Prediction of cancer driver mutations in protein kinases.
rs1057519738 in
MIR4728;ERBB2 gene and
Malignant Uterine Corpus Neoplasm
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs28933370 in
MIR4728;ERBB2 gene and
Malignant neoplasm of ovary
PMID 23188549 2013 NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.
PMID 22964825 2012 Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement.
PMID 17344846 2007 Patterns of somatic mutation in human cancer genomes.
PMID 15457249 2004 Lung cancer: intragenic ERBB2 kinase mutations in tumours.
PMID 19042984 2008 National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers.
rs1057519737 in
MIR4728;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 22046346 2011 Differential sensitivity of ERBB2 kinase domain mutations towards lapatinib.
PMID 24516025 2014 Response of an ERBB2-mutated inflammatory breast carcinoma to human epidermal growth factor receptor 2-targeted therapy.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs28933369 in
MIR4728;ERBB2 gene and
Neoplasms
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs397516981 in
MIR4728;ERBB2 gene and
Non-Small Cell Lung Carcinoma
PMID 18334834 2008 siRNA targeting against EGFR, a promising candidate for a novel therapeutic application to lung adenocarcinoma.
PMID 16638863 2006 Optimization of patient selection for gefitinib in non-small cell lung cancer by combined analysis of epidermal growth factor receptor mutation, K-ras mutation, and Akt phosphorylation.
PMID 22325357 2012 Clinical activity of afatinib (BIBW 2992) in patients with lung adenocarcinoma with mutations in the kinase domain of HER2/neu.
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 15457249 2004 Lung cancer: intragenic ERBB2 kinase mutations in tumours.
rs28933370 in
MIR4728;ERBB2 gene and
Ovarian adenocarcinoma
PMID 18339846 2008 Prediction of cancer driver mutations in protein kinases.
rs28933369 in
MIR4728;ERBB2 gene and
Stomach Carcinoma
PMID 17344846 2007 Patterns of somatic mutation in human cancer genomes.
PMID 15457249 2004 Lung cancer: intragenic ERBB2 kinase mutations in tumours.
rs1057519738 in
MIR4728;ERBB2 gene and
Uterine Carcinosarcoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.