ERBB2 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) [Homo sapiens (human)]
| Gene Symbol | ERBB2 |
| Entrez Gene ID | 2064 |
| Full Name | v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) |
| Synonyms | CD340, HER-2, HER-2/neu, HER2, MLN 19, NEU, NGL, TKR1 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
17 17q11.2-q12|17q21.1 |
| 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. [provided by RefSeq]. |
| Disorder | MIM: 164870 Adenocarcinoma of lung, somatic, 211980 (3); Glioblastoma, somatic, |
| mRNA | NM_004448, 54792095 |
| Protein | NP_004439, 54792096 |
| Product | receptor tyrosine-protein kinase erbB-2 isoform a |
| RefSeq Status | REVIEWED |
| mRNA | NM_001005862, 54792097 |
| Protein | NP_001005862, 54792098 |
| Product | receptor tyrosine-protein kinase erbB-2 isoform b |
| RefSeq Status | REVIEWED |
| hsa04520 | Adherens junction |
| hsa05223 | Non-small cell lung cancer |
| hsa05200 | Pathways in cancer |
| hsa04012 | ErbB signaling pathway |
| hsa05219 | Bladder cancer |
| hsa05212 | Pancreatic cancer |
| hsa04510 | Focal adhesion |
| hsa05213 | Endometrial cancer |
| hsa04020 | Calcium signaling pathway |
| hsa05215 | Prostate cancer |
WikiPathways
| WP364 | IL-6 Signaling Pathway |
| WP306 | Focal Adhesion |
| WP244 | Alpha6-Beta4 Integrin Signaling Pathway |
| WP673 | ErbB signaling pathway |
Pathway Interaction Database
| erbb2erbb3pathway | ErbB2/ErbB3 signaling events |
| erbb_network_pathway | ErbB receptor signaling network |
| a6b1_a6b4_integrin_pathway | a6b1 and a6b4 Integrin signaling |
| myc_represspathway | Validated targets of C-MYC transcriptional repression |
| erbb4_pathway | ErbB4 signaling events |
Reactome
| REACT_18266 | Axon guidance |
| REACT_19259 | Sema4D in semaphorin signaling |
| REACT_19277 | Sema4D induced cell migration and growth-cone collapse |
| REACT_19271 | Semaphorin interactions |
| Homo sapiens (human) | ERBB2 | NP_004439.2 |
| Canis lupus familiaris (dog) | ERBB2 | NP_001003217.1 |
| Mus musculus (house mouse) | Erbb2 | NP_001003817.1 |
| Rattus norvegicus (Norway rat) | Erbb2 | NP_058699.2 |
| Gallus gallus (chicken) | ERBB2 | NP_001038126.1 |
| Danio rerio (zebrafish) | erbb2 | NP_956413.2 |
| ID | Name | Evidence |
| GO:0001889 | liver development | IEA |
| GO:0006355 | regulation of transcription, DNA-dependent | IEA |
| GO:0006468 | protein phosphorylation | TAS |
| GO:0007165 | signal transduction | IDA |
| GO:0007166 | cell surface receptor linked signaling pathway | IDA |
| GO:0007167 | enzyme linked receptor protein signaling pathway | TAS |
| GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | IDA |
| GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | TAS |
| GO:0007173 | epidermal growth factor receptor signaling pathway | NAS |
| GO:0007399 | nervous system development | TAS |
| GO:0007411 | axon guidance | TAS |
| GO:0007422 | peripheral nervous system development | IEA |
| GO:0007507 | heart development | TAS |
| GO:0007519 | skeletal muscle tissue development | IEA |
| GO:0007528 | neuromuscular junction development | IEA |
| GO:0008045 | motor axon guidance | IEA |
| GO:0008283 | cell proliferation | TAS |
| GO:0010001 | glial cell differentiation | IEA |
| GO:0014065 | phosphatidylinositol 3-kinase cascade | IDA |
| GO:0014068 | positive regulation of phosphatidylinositol 3-kinase cascade | IEA |
| GO:0030879 | mammary gland development | TAS |
| GO:0032570 | response to progesterone stimulus | IEA |
| GO:0032886 | regulation of microtubule-based process | IDA |
| GO:0033088 | negative regulation of immature T cell proliferation in thymus | IEA |
| GO:0042060 | wound healing | IDA |
| GO:0042493 | response to drug | IEA |
| GO:0042552 | myelination | IEA |
| GO:0043066 | negative regulation of apoptosis | IEA |
| GO:0043406 | positive regulation of MAP kinase activity | IDA |
| GO:0043410 | positive regulation of MAPKKK cascade | IEA |
| GO:0043586 | tongue development | IEA |
| GO:0045765 | regulation of angiogenesis | NAS |
| GO:0045785 | positive regulation of cell adhesion | IDA |
| GO:0046579 | positive regulation of Ras protein signal transduction | IEA |
| GO:0046777 | protein autophosphorylation | IDA |
| GO:0048015 | phosphatidylinositol-mediated signaling | NAS |
| GO:0048485 | sympathetic nervous system development | IEA |
| GO:0048678 | response to axon injury | IEA |
| GO:0050679 | positive regulation of epithelial cell proliferation | IDA |
| GO:0060056 | mammary gland involution | IEA |
| GO:0060209 | estrus | IEA |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
| GO:0005737 | cytoplasm | IEA |
| GO:0005886 | plasma membrane | NAS |
| GO:0005886 | plasma membrane | TAS |
| GO:0005902 | microvillus | IEA |
| GO:0009925 | basal plasma membrane | IEA |
| GO:0016021 | integral to membrane | NAS |
| GO:0016323 | basolateral plasma membrane | IDA |
| GO:0016324 | apical plasma membrane | IEA |
| GO:0043219 | lateral loop | IEA |
| GO:0043235 | receptor complex | IDA |
| GO:0043235 | receptor complex | TAS |
| GO:0045121 | membrane raft | IEA |
| GO:0045211 | postsynaptic membrane | IEA |
| GO:0048471 | perinuclear region of cytoplasm | IEA |
Function
| ID | Name | Evidence |
| GO:0000166 | nucleotide binding | IEA |
| GO:0001948 | glycoprotein binding | IEA |
| GO:0003677 | DNA binding | IEA |
| GO:0004713 | protein tyrosine kinase activity | IDA |
| GO:0004713 | protein tyrosine kinase activity | IGI |
| GO:0004713 | protein tyrosine kinase activity | TAS |
| GO:0004714 | transmembrane receptor protein tyrosine kinase activity | IDA |
| GO:0004716 | receptor signaling protein tyrosine kinase activity | IEA |
| GO:0004888 | transmembrane receptor activity | IDA |
| GO:0005006 | epidermal growth factor receptor activity | NAS |
| GO:0005515 | protein binding | IPI |
| GO:0005524 | ATP binding | IEA |
| GO:0008022 | protein C-terminus binding | IPI |
| GO:0019838 | growth factor binding | IDA |
| GO:0019903 | protein phosphatase binding | IPI |
| GO:0031625 | ubiquitin protein ligase binding | IEA |
| GO:0042802 | identical protein binding | IPI |
| GO:0043125 | ErbB-3 class receptor binding | TAS |
| GO:0046982 | protein heterodimerization activity | IDA |
| GO:0046982 | protein heterodimerization activity | IPI |
| GO:0046982 | protein heterodimerization activity | NAS |
| GO:0046983 | protein dimerization activity | NAS |
| GO:0051879 | Hsp90 protein binding | IEA |
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