Hs01631206_cn

• Gene Symbol: ERBB2
• Assay Reference Genome Location: Chr.17:39726602 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: Overlaps Intron 28 - Intron 29

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ERBB2	NM_001005862.2			NP_001005862.1
	NM_001289936.1			NP_001276865.1
	NM_001289937.1			NP_001276866.1
	NM_004448.3			NP_004439.2
	NR_110535.1
	AK295195.1
	AK300321.1
	AK313683.1
	BC167147.1
	KJ534831.1
	KJ534832.1
	KJ534964.1
	M11730.1			AAA75493.1
	X03363.1			CAA27060.1

Target Gene Details

• Entrez Gene ID: 100616132
• Gene Name: microRNA 4728
• Gene Aliases: -
• Location: Chr.17:39726495-39726561 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIR4728	NR_039881.2

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	GRB7 ERBB2 MIR4728 MIEN1
nsv2048	Chr.17:39718682 - 39742588 on Build GRCh38	Insertion	GRB7 ERBB2 MIR4728 MIEN1
dgv40n68	Chr.17:39536627 - 39726611 on Build GRCh38	Loss	PPP1R1B NEUROD2 PGAP3 TCAP STARD3 ERBB2 PNMT MIR4728 CDK12

More Information

• Set Membership: Intragenic, Intronic, 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

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