ERBB2 Gene - CISMeF

Preferred Label : ERBB2 Gene;

NCIt synonyms : NEU; Erb-b2 Receptor Tyrosine Kinase 2 Gene; HER2; HER2/Neu;

NCIt related terms : ERBB2;

CISMeF acronym : ERBB2;

NCIt definition : This gene plays a role in cellular proliferation and is involved in the oncogenic process through amplification and/or overexpression in several cancers.;

Details

Origin ID

C17756;

UMLS CUI

C0242957;

Automatic exact mappings (from CISMeF team)
- HER2 [LOINC component]
- erb-b2 receptor tyrosine kinase 2 [ORDO Gene]
- her-2 / neu [medical devices type]
- her-2 / neu [medical devices type]
- her-2/neu [EMDN type]
- neuraminidase 1 [ORDO Gene]
Currated CISMeF NLP mapping
- ERBB2 gene [LOINC component]
- Erb-b2 receptor tyrosine kinase 2 [OMIM gene]
- erb-b2 receptor tyrosine kinase 2 [HGNC gene]
- genes, erbB-2 [MeSH concept]
- genes, erbB-2 [MeSH Descriptor]
HGNC gene
- erb-b2 receptor tyrosine kinase 2 [HGNC gene]
OMIM relation
- Erb-b2 receptor tyrosine kinase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ERBB2 gene [LOINC component]
- Erb-b2 receptor tyrosine kinase 2 [OMIM gene]
- erb-b2 receptor tyrosine kinase 2 [HGNC gene]
- genes, erbB-2 [MeSH concept]
- genes, erbB-2 [MeSH Descriptor]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Pediatric Oncology Target Cell Lineage Determinant Terminology [NCIt concept]
gene_associated_with_disease
- Glioblastoma [NCIt concept]
- Lung Adenocarcinoma [NCIt concept]
- Ovarian Carcinoma [NCIt concept]
gene_encodes_gene_product
- ERBB2 Gene Product [NCIt concept]
- Receptor Tyrosine-Protein Kinase erbB-2 [NCIt concept]
- Receptor Tyrosine-Protein Kinase erbB-2 Carboxyl Terminal Fragment [NCIt concept]
- Soluble Receptor Tyrosine-Protein Kinase erbB-2 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating ERBB2 Mutation [NCIt concept]
- Activating ERBB2 Point Mutation [NCIt concept]
- Deleterious ERBB2 Gene Mutation [NCIt concept]
- ERBB2 Exon 18 Mutation [NCIt concept]
- ERBB2 Exon 19 Mutation [NCIt concept]
- ERBB2 Exon 20 Insertion Mutation [NCIt concept]
- ERBB2 Exon 20 Mutation [NCIt concept]
- ERBB2 Exon 21 Mutation [NCIt concept]
- ERBB2 Gene Amplification [NCIt concept]
- ERBB2 Gene Mutation [NCIt concept]
- ERBB2 Gene Rearrangement [NCIt concept]
- ERBB2 NM_004448.1:c.2413T>A [NCIt concept]
- ERBB2 NM_004448.2:c.2324_2325ins12 [NCIt concept]
- ERBB2 NM_004448.2:c.2325_2326ins12 [NCIt concept]
- ERBB2 NM_004448.2:c.2326_2327insTCT [NCIt concept]
- ERBB2 NM_004448.3:c.1963A>G [NCIt concept]
- ERBB2 NM_004448.3:c.1976_1977delinsAG [NCIt concept]
- ERBB2 NM_004448.3:c.2033G>A [NCIt concept]
- ERBB2 NM_004448.3:c.2089G>C [NCIt concept]
- ERBB2 NM_004448.3:c.2089G>T [NCIt concept]
- ERBB2 NM_004448.3:c.2198C>T [NCIt concept]
- ERBB2 NM_004448.3:c.2301C>G [NCIt concept]
- ERBB2 NM_004448.3:c.2305G>A [NCIt concept]
- ERBB2 NM_004448.3:c.2305G>C [NCIt concept]
- ERBB2 NM_004448.3:c.2305G>T [NCIt concept]
- ERBB2 NM_004448.3:c.2317G>A [NCIt concept]
- ERBB2 NM_004448.3:c.2329G>A [NCIt concept]
- ERBB2 NM_004448.3:c.2329G>C [NCIt concept]
- ERBB2 NM_004448.3:c.2329G>T [NCIt concept]
- ERBB2 NM_004448.3:c.2356C>G [NCIt concept]
- ERBB2 NM_004448.3:c.2524G>A [NCIt concept]
- ERBB2 NM_004448.3:c.2606T>G [NCIt concept]
- ERBB2 NM_004448.3:c.929C>A [NCIt concept]
- ERBB2 NM_004448.3:c.929C>T [NCIt concept]
- ERBB2 NM_004448.3:c.962A>G [NCIt concept]
- ERBB2 NM_004448.4:c.1958C>G [NCIt concept]
- ERBB2 NM_004448.4:c.1979G>A [NCIt concept]
- ERBB2 NM_004448.4:c.2077G>A [NCIt concept]
- ERBB2 NM_004448.4:c.2126A>T [NCIt concept]
- ERBB2 NM_004448.4:c.2263_2264delinsCC [NCIt concept]
- ERBB2 NM_004448.4:c.2264T>C [NCIt concept]
- ERBB2 NM_004448.4:c.2264_2278del [NCIt concept]
- ERBB2 NM_004448.4:c.2326G>T [NCIt concept]
- ERBB2 NM_004448.4:c.2327G>T [NCIt concept]
- ERBB2 NM_004448.4:c.2331_2339dup [NCIt concept]
- ERBB2 NM_004448.4:c.2332_2340dup [NCIt concept]
- ERBB2 NM_004448.4:c.2521C>G [NCIt concept]
- ERBB2 NM_004448.4:c.2584A>G [NCIt concept]
- ERBB2 NM_004448.4:c.2596C>A [NCIt concept]
- ERBB2 NM_004448.4:c.2632C>T [NCIt concept]
- ERBB2 NM_004448.4:c.2686C>T [NCIt concept]
- ERBB2 NM_004448.4:c.926G>A [NCIt concept]
- ERBB2 NM_004448.4:c.926G>C [NCIt concept]
- ERBB2 NP_004439.2:p.C805S [NCIt concept]
- ERBB2 NP_004439.2:p.D769H [NCIt concept]
- ERBB2 NP_004439.2:p.D769N [NCIt concept]
- ERBB2 NP_004439.2:p.D769Y [NCIt concept]
- ERBB2 NP_004439.2:p.E321G [NCIt concept]
- ERBB2 NP_004439.2:p.E693K [NCIt concept]
- ERBB2 NP_004439.2:p.G309A [NCIt concept]
- ERBB2 NP_004439.2:p.G309E [NCIt concept]
- ERBB2 NP_004439.2:p.G660D [NCIt concept]
- ERBB2 NP_004439.2:p.G776C [NCIt concept]
- ERBB2 NP_004439.2:p.G776V [NCIt concept]
- ERBB2 NP_004439.2:p.G776delinsVC [NCIt concept]
- ERBB2 NP_004439.2:p.G778_P780dup [NCIt concept]
- ERBB2 NP_004439.2:p.H878Y [NCIt concept]
- ERBB2 NP_004439.2:p.I655V [NCIt concept]
- ERBB2 NP_004439.2:p.I767M [NCIt concept]
- ERBB2 NP_004439.2:p.L755P [NCIt concept]
- ERBB2 NP_004439.2:p.L755S [NCIt concept]
- ERBB2 NP_004439.2:p.L755X [NCIt concept]
- ERBB2 NP_004439.2:p.L755_T759del [NCIt concept]
- ERBB2 NP_004439.2:p.L786V [NCIt concept]
- ERBB2 NP_004439.2:p.L841V [NCIt concept]
- ERBB2 NP_004439.2:p.L866M [NCIt concept]
- ERBB2 NP_004439.2:p.L869R [NCIt concept]
- ERBB2 NP_004439.2:p.Q709L [NCIt concept]
- ERBB2 NP_004439.2:p.R678Q [NCIt concept]
- ERBB2 NP_004439.2:p.R896C [NCIt concept]
- ERBB2 NP_004439.2:p.S310F [NCIt concept]
- ERBB2 NP_004439.2:p.S310Y [NCIt concept]
- ERBB2 NP_004439.2:p.S653C [NCIt concept]
- ERBB2 NP_004439.2:p.T733I [NCIt concept]
- ERBB2 NP_004439.2:p.T862A [NCIt concept]
- ERBB2 NP_004439.2:p.T862I [NCIt concept]
- ERBB2 NP_004439.2:p.V659E [NCIt concept]
- ERBB2 NP_004439.2:p.V697L [NCIt concept]
- ERBB2 NP_004439.2:p.V773M [NCIt concept]
- ERBB2 NP_004439.2:p.V777L [NCIt concept]
- ERBB2 NP_004439.2:p.V777M [NCIt concept]
- ERBB2 NP_004439.2:p.V842I [NCIt concept]
- ERBB2 NP_004439.2:p.Y772_A775dup [NCIt concept]
- ERBB2 Protein Overexpression [NCIt concept]
- ERBB2 Protein Variant [NCIt concept]
- ERBB2 mRNA Overexpression [NCIt concept]
- Inactivating ERBB2 Gene Mutation [NCIt concept]
- Non-synonymous ERBB2 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Breast Ductal Carcinoma [NCIt concept]
- Pancreatic Ductal Adenocarcinoma [NCIt concept]
gene_mapped_to_disease
- Advanced Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Borderline Resectable Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Breast Atypical Medullary Carcinoma [NCIt concept]
- Breast Carcinoma with Choriocarcinomatous Features [NCIt concept]
- Breast Carcinoma with Melanotic Features [NCIt concept]
- Breast Carcinoma with Neuroendocrine Differentiation [NCIt concept]
- Breast Carcinoma with Osteoclast-Like Stromal Giant Cells [NCIt concept]
- Breast Ductal Carcinoma [NCIt concept]
- Breast Ductal Carcinoma In Situ [NCIt concept]
- Breast Ductal Carcinoma In Situ, Comedo Type [NCIt concept]
- Breast Ductal Carcinoma In Situ, Cribriform Pattern [NCIt concept]
- Breast Ductal Carcinoma In Situ, High Grade [NCIt concept]
- Breast Ductal Carcinoma In Situ, Intermediate Grade [NCIt concept]
- Breast Ductal Carcinoma In Situ, Low Grade [NCIt concept]
- Breast Ductal Carcinoma In Situ, Non-Comedo Type [NCIt concept]
- Breast Ductal Carcinoma In Situ, Solid Type [NCIt concept]
- Breast Ductal Carcinoma with Squamous Metaplasia [NCIt concept]
- Breast Lipid-Rich Carcinoma [NCIt concept]
- Breast Medullary Carcinoma [NCIt concept]
- Breast Micropapillary Ductal Carcinoma In Situ [NCIt concept]
- Breast Oncocytic Carcinoma [NCIt concept]
- Breast Papillary Ductal Carcinoma In Situ [NCIt concept]
- Breast Pleomorphic Carcinoma [NCIt concept]
- Breast Scirrhous Carcinoma [NCIt concept]
- Breast Sebaceous Carcinoma [NCIt concept]
- Breast Solid Papillary Carcinoma In Situ [NCIt concept]
- Early Stage Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Gallbladder Adenocarcinoma [NCIt concept]
- Gallbladder Adenocarcinoma with Squamous Metaplasia [NCIt concept]
- Gallbladder Adenocarcinoma, Biliary Type [NCIt concept]
- Gallbladder Adenocarcinoma, Gastric Foveolar Type [NCIt concept]
- Gallbladder Adenocarcinoma, Intestinal-Type [NCIt concept]
- Gallbladder Clear Cell Adenocarcinoma [NCIt concept]
- Gallbladder Cribriform Carcinoma [NCIt concept]
- Gallbladder Goblet Cell Adenocarcinoma [NCIt concept]
- Gallbladder Hepatoid Adenocarcinoma [NCIt concept]
- Gallbladder Intracholecystic Papillary Neoplasm with an Associated Invasive Carcinoma [NCIt concept]
- Gallbladder Mucinous Adenocarcinoma [NCIt concept]
- Gallbladder Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma [NCIt concept]
- Gallbladder Signet Ring Cell Adenocarcinoma [NCIt concept]
- Glycogen-Rich, Clear Cell Breast Carcinoma [NCIt concept]
- Invasive Breast Carcinoma of No Special Type [NCIt concept]
- Invasive Breast Carcinoma of No Special Type with Predominant Intraductal Component [NCIt concept]
- Localized Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Locally Advanced Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Locally Advanced Unresectable Breast Ductal Carcinoma [NCIt concept]
- Locally Advanced Unresectable Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Locally Recurrent Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Metastatic Breast Ductal Carcinoma [NCIt concept]
- Metastatic Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Oligometastatic Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Colloid Carcinoma [NCIt concept]
- Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Ductal Intestinal-Type Adenocarcinoma [NCIt concept]
- Pancreatic Foamy Gland Adenocarcinoma [NCIt concept]
- Pancreatic Hepatoid Adenocarcinoma [NCIt concept]
- Pancreatic Medullary Carcinoma [NCIt concept]
- Pancreatic Moderately Differentiated Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Poorly Cohesive Adenocarcinoma [NCIt concept]
- Pancreatic Poorly Differentiated Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Signet Ring Cell Adenocarcinoma [NCIt concept]
- Pancreatic Well Differentiated Ductal Adenocarcinoma [NCIt concept]
- Recurrent Breast Ductal Carcinoma In Situ [NCIt concept]
- Recurrent Breast Medullary Carcinoma [NCIt concept]
- Recurrent Invasive Breast Carcinoma of No Special Type [NCIt concept]
- Recurrent Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Refractory Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Resectable Gallbladder Adenocarcinoma [NCIt concept]
- Resectable Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Unresectable Gallbladder Adenocarcinoma [NCIt concept]
- Unresectable Pancreatic Ductal Adenocarcinoma [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
genetic_biomarker_related_to
- ERBB Family Gene Fusion Positive [NCIt concept]
- ERBB2 Amplification Status [NCIt concept]
- ERBB2 Antibody [NCIt concept]
- ERBB2 Fusion Positive [NCIt concept]
- ERBB2 Gene Alteration Positive [NCIt concept]
- ERBB2 Gene Amplification Negative [NCIt concept]
- ERBB2 Gene Copy Number/Nucleus in Tissue by FISH [NCIt concept]
- ERBB2 Gene Duplication Associated Observations Panel - Tissue by FISH [NCIt concept]
- ERBB2 Gene Duplication [Presence] in Breast Cancer Specimen by FISH [NCIt concept]
- ERBB2 Gene Duplication [Presence] in Tissue by FISH [NCIt concept]
- ERBB2 Gene Duplication in Tumor by FISH [NCIt concept]
- ERBB2 Gene Fusion Positive [NCIt concept]
- ERBB2 Gene Mutation Negative [NCIt concept]
- ERBB2 Mutation Analysis [NCIt concept]
- ERBB2 Mutation Analysis Testing Method [NCIt concept]
- ERBB2 Mutation Analysis Was Not Performed [NCIt concept]
- ERBB2 Mutation Analysis Was Performed [NCIt concept]
- ERBB2 Overexpression [NCIt concept]
- ERBB2/CEP17 Copy Number Ratio Finding [NCIt concept]
- ERBB2/Chromosome 17 Copy Number Ratio Finding [NCIt concept]
- ERBB2/D17Z1 Copy Number Ratio Finding [NCIt concept]
- HER-2/neu Intracellular Domain Protein [NCIt concept]
- HER2 Copy Number Measurement [NCIt concept]
- HER2-targeted Therapy [NCIt concept]
- HER2/CEP17 FISH Ratio Assay [NCIt concept]
- HER2/Neu Copy Number Ratio Less than 2 by FISH [NCIt concept]
- HER2/Neu Expression by Immunohistochemistry 0 [NCIt concept]
- HER2/Neu Expression by Immunohistochemistry 1+ [NCIt concept]
- HER2/Neu Expression by Immunohistochemistry 2+ [NCIt concept]
- HER2/Neu Expression by Immunohistochemistry 3+ [NCIt concept]
- HER2/Neu Gene Copy Number Less than 6 [NCIt concept]
- HER2/Neu Low Expression [NCIt concept]
- HER2/Neu Negative [NCIt concept]
- HER2/Neu Negative by FISH [NCIt concept]
- HER2/Neu Negative by Immunohistochemistry [NCIt concept]
- HER2/Neu Positive [NCIt concept]
- HER2/Neu Positive by FISH [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry 1-10 Percent [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry 11-20 Percent [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry 21-30 Percent [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry 31-40 Percent [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry 41-50 Percent [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry 51-60 Percent [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry 61-70 Percent [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry 71-80 Percent [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry 81-90 Percent [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry 91-100 Percent [NCIt concept]
- HER2/Neu Positive by Immunohistochemistry Less than 1 Percent [NCIt concept]
- HER2/Neu Status [NCIt concept]
- HER2/Neu Status Unknown [NCIt concept]
- HER2/Neu Status by Immunohistochemistry [NCIt concept]
- Her2/erbb2/neu Staining Method [NCIt concept]
- Hormone Receptor/HER2 Positive [NCIt concept]
- Human Epidermal Growth Factor Receptor 2 Measurement [NCIt concept]
- Is Another Non-Exon 20 ERBB2 Mutation Present Question [NCIt concept]
- Luminal Androgen Receptor Finding [NCIt concept]
- Not Known if ERBB2 Mutation Analysis Was Performed [NCIt concept]
- Pan-ErbB Inhibitor [NCIt concept]
- Presence of ERBB2 Overexpressing Disseminated Tumor Cells [NCIt concept]
- Receptor Tyrosine-Protein Kinase erbB-2 [Interpretation] in Tissue [NCIt concept]
- Receptor Tyrosine-Protein Kinase erbB-2 [Mass/Volume] in Serum [NCIt concept]
- Receptor Tyrosine-Protein Kinase erbB-2 [Mass/Volume] in Serum by Immunoassay [NCIt concept]
- Receptor Tyrosine-Protein Kinase erbB-2 [Presence] in Breast Cancer Specimen by Immune Stain [NCIt concept]
- Receptor Tyrosine-Protein Kinase erbB-2 [Presence] in Serum by Immunoassay [NCIt concept]
- Receptor Tyrosine-Protein Kinase erbB-2 [Presence] in Tissue by Immunoassay [NCIt concept]
- Receptor Tyrosine-Protein Kinase erbB-2 [Units/Volume] in Tissue by Immunoassay [NCIt concept]
- Soluble HER2 Antigen Measurement [NCIt concept]
- Specify Other ERBB2 Non-Exon 20 Mutation [NCIt concept]
- Triple-Negative Breast Cancer Finding [NCIt concept]
- Was ERBB2 Mutation Analysis Performed Question [NCIt concept]

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