Gene: MIEN1

Alternate names for this Gene: C17orf37|C35|ORB3|RDX12|XTP4

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: migration and invasion enhancer 1

Type of Gene: protein-coding

Gene: ERBB2

Alternate names for this Gene: CD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1

Gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: erb-b2 receptor tyrosine kinase 2

Type of Gene: protein-coding

rs4252665 in MIEN1;ERBB2 gene and Lupus Erythematosus, Systemic PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.