Version: 8.0.0Date: Tue Jan 28 2025
Gene
ERBB2
- Species
- Homo sapiens
- Symbol
- ERBB2
- Name
- erb-b2 receptor tyrosine kinase 2
- Synonyms
- c-erb B2/neu protein
- c-ERB-2
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including ErbB-3 class receptor binding activity; enzyme binding activity; and protein heterodimerization activity. Contributes to growth factor binding activity. Involved in several processes, including ERBB2-EGFR signaling pathway; cellular response to epidermal growth factor stimulus; and positive regulation of macromolecule metabolic process. Acts upstream of or within cell surface receptor signaling pathway. Located in several cellular components, including basolateral plasma membrane; endosome membrane; and nucleoplasm. Part of ERBB3:ERBB2 complex. Implicated in several diseases, including lung cancer (multiple); mammary Paget's disease; reproductive organ cancer (multiple); stomach cancer; and urinary system cancer (multiple). Biomarker of several diseases, including carcinoma (multiple); ductal carcinoma in situ; invasive lobular carcinoma; pre-eclampsia (multiple); and urinary system cancer (multiple).
- RGD Description
- 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, Jul 2008]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24416
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr17:39687914...39730426 + (42.51 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.