Hs01048480_cn

• Gene Symbol: ERBB2
• Assay Reference Genome Location: Chr.17:39728480 on build GRCh38
• Cytoband: 17q12

Target Gene Details

• Entrez Gene ID: 2064
• Gene Name: erb-b2 receptor tyrosine kinase 2
• Gene Aliases: CD340, HER-2, HER-2/neu, HER2, MLN 19, NEU, NGL, TKR1
• Location: Chr.17:39688084-39728662 on Build GRCh38
• Assay Gene Location: Within Exon 32

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ERBB2	NM_001005862.2	30	4690	NP_001005862.1
	NM_001289936.1	31	4741	NP_001276865.1
	NM_001289937.1	26	4212	NP_001276866.1
	NM_004448.3	27	4465	NP_004439.2
	NR_110535.1	27	4528
	BM678576.1	1	200
	M11730.1	27	4354	AAA75493.1
	X03363.1	27	4378	CAA27060.1

Target Gene Details

• Entrez Gene ID: 84299
• Gene Name: migration and invasion enhancer 1
• Gene Aliases: C17orf37, C35, ORB3, RDX12, XTP4
• Location: Chr.17:39728500-39730563 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIEN1	NM_032339.4			NP_115715.3

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1056234	Chr.17:39706352 - 39753735 on Build GRCh38	Gain	MIEN1 MIR4728 GRB7 ERBB2
nsv2048	Chr.17:39718682 - 39742588 on Build GRCh38	Insertion	MIEN1 MIR4728 GRB7 ERBB2

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transmembrane signal receptor

Gene Ontology Categories:

Process(es)

MAPK cascade
positive regulation of protein phosphorylation
transcription, DNA-templated
protein phosphorylation
signal transduction
cell surface receptor signaling pathway
enzyme linked receptor protein signaling pathway
transmembrane receptor protein tyrosine kinase signaling pathway
peripheral nervous system development
heart development
neuromuscular junction development
motor neuron axon guidance
cell proliferation
phosphatidylinositol 3-kinase signaling
regulation of phosphatidylinositol 3-kinase signaling
peptidyl-tyrosine phosphorylation
positive regulation of cell growth
regulation of microtubule-based process
negative regulation of immature T cell proliferation in thymus
ERBB2 signaling pathway
wound healing
myelination
positive regulation of MAP kinase activity
positive regulation of GTPase activity
positive regulation of translation
regulation of angiogenesis
positive regulation of cell adhesion
positive regulation of transcription from RNA polymerase I promoter
positive regulation of transcription from RNA polymerase III promoter
protein autophosphorylation
phosphatidylinositol phosphorylation
phosphatidylinositol-mediated signaling
oligodendrocyte differentiation
positive regulation of epithelial cell proliferation
regulation of ERK1 and ERK2 cascade
cellular response to growth factor stimulus
cellular response to epidermal growth factor stimulus
positive regulation of protein targeting to membrane
regulation of cell motility
apoptotic process
positive regulation of cell migration
negative regulation of apoptotic process
positive regulation of filopodium assembly

Function(s)

RNA polymerase I core binding
protein tyrosine kinase activity
transmembrane receptor protein tyrosine kinase activity
receptor signaling protein tyrosine kinase activity
transmembrane signaling receptor activity
Ras guanyl-nucleotide exchange factor activity
protein binding
ATP binding
protein C-terminus binding
growth factor binding
protein phosphatase binding
identical protein binding
ErbB-3 class receptor binding
phosphatidylinositol-4,5-bisphosphate 3-kinase activity
protein heterodimerization activity
protein dimerization activity