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Gene : ERBB2 Homo sapiens

Name  ? erb-b2 receptor tyrosine kinase 2 Cytological Location  17q12
Brief Description  erb-b2 receptor tyrosine kinase 2
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]
  • synonyms:
  • uc002hso.4,
  • NEU,
  • HER2,
  • NGL,
  • HER-2,
  • NEU,
  • HER-2,
  • v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog),
  • CD340,
  • NGL,
  • OTTHUMG00000179300,
  • ERBB2,
  • MLN 19,
  • HGNC:3430,
  • NM_004448,
  • X03363,
  • v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2,
  • CD340,
  • neuro/glioblastoma derived oncogene homolog,
  • HER2,
  • human epidermal growth factor receptor 2,
  • TKR1,
  • HER-2/neu
  • identifiers:
  • 2064,
  • ENSG00000141736,
  • ERBB2

Genome feature

Region: gene ? Length: 40579  
Location: 17:39688084-39728662 Cyto location: 17q12


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Disease

3 Diseases

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736 SN Ps

5 Cross References

20 Data Sets

58 Homologues

0 Located Features

90 Rna Seq Results