Version: 8.0.0Date: Tue Jan 28 2025
Gene
ERBB3
- Species
- Homo sapiens
- Symbol
- ERBB3
- Name
- erb-b2 receptor tyrosine kinase 3
- Synonyms
- avian erythroblastosis oncogene b 3
- c-erbB-3
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including ErbB-3 class receptor binding activity; neuregulin binding activity; and protein heterodimerization activity. Involved in several processes, including cell surface receptor signaling pathway; neuron apoptotic process; and phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in basolateral plasma membrane and extracellular space. Part of ERBB3:ERBB2 complex. Implicated in lethal congenital contracture syndrome 2; lung adenocarcinoma; lung non-small cell carcinoma; and neuronal intestinal dysplasia type A. Biomarker of carcinoma (multiple); ductal carcinoma in situ; prostate cancer; and urinary bladder cancer.
- RGD Description
- This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly 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
- Chr12:56076799...56103505 + (26.71 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.