User:JonSDSUGrad/Sandbox/TEST5 HER2

From Wikipedia, the free encyclopedia


v-erb-b2 erythroblastic leukemia viral oncogene homolog 2
PDB rendering based on 1n8z.
Available structures: 1n8z, 1s78, 2a91
Identifiers
Symbol(s) ERBB2; HER-2; HER-2/neu; HER2; NEU; NGL; TKR1; c-erb B2
External IDs OMIM: 164870 MGI95410 HomoloGene3273
Orthologs
Human Mouse
Entrez 2064 13866
Ensembl ENSG00000141736 ENSMUSG00000062312
Uniprot P04626 n/a
Refseq NM_004448 (mRNA)
NP_004439 (protein)
NM_001003817 (mRNA)
NP_001003817 (protein)
Location Chr 17: 35.1 - 35.14 Mb Chr 11: 98.23 - 98.25 Mb
Pubmed search [1] [2]

[edit] Summary

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.