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ERBB2

Somatic tumors
breast, ovarian, other tumour types, NSCLC, gastric
Tumor types germline
Cancer Syndrom
Translocation partner
Name
v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
Chromosome banding
17q21.1
Cancer molecular gen.
Dom
Mutation type
A, Mis, O
Other syndrome disease
Definition     No results

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ERBB2

This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. Thisprotein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bindtightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding andenhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activatedprotein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 ofisoform 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, includingbreast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encodingdifferent isoforms and others that have not been fully characterized. (provided by RefSeq, Jul 2008)

This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases

Thisprotein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bindtightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding andenhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activatedprotein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 ofisoform 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, includingbreast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encodingdifferent isoforms and others that have not been fully characterized. (provided by RefSeq, Jul 2008)

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