LP36215-9
ERBB2 gene
Active
Description
The ERBB2 gene (erb-b2 receptor tyrosine kinase 2) [HGNC Gene ID:3430] is located on chromosome 17q12. 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] [NCBI Gene ID:2064] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- ERBB2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-10-21
- Construct for LOINC Short Name
- ERBB2 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ERBB2 基因 Synonyms: c-erb B2; |
| et-EE | Estonian (Estonia) | ERBB2 geen |
| es-ES | Spanish (Spain) | Gen ERBB2 |
| it-IT | Italian (Italy) | ERBB2, gene Synonyms: Gene ERBB2 |
| tr-TR | Turkish (Turkey) | ERBB2 geni |
| ru-RU | Russian (Russian Federation) | ERBB2 ген |
| nl-NL | Dutch (Netherlands) | ERBB2-gen Synonyms: ERBB2 gen |
| fr-CA | French (Canada) | ERBB2 gène |
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