Hs01650391_cn

• Gene Symbol: ESR2
• Assay Reference Genome Location: Chr.14:64227034 on build GRCh38
• Cytoband: 14q23.2

Target Gene Details

• Entrez Gene ID: 2100
• Gene Name: estrogen receptor 2
• Gene Aliases: ER-BETA, ESR-BETA, ESRB, ESTRB, Erb, NR3A2
• Location: Chr.14:64226712-64338631 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ESR2	NM_001040275.1			NP_001035365.1
	NM_001214902.1			NP_001201831.1
	NM_001291712.1	14	3715	NP_001278641.1
	NM_001291723.1			NP_001278652.1
	NR_073496.1
	AB006589.1	14	3262	BAA31966.1
	AF060555.1			AAC15234.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1050378	Chr.14:64219825 - 64236294 on Build GRCh38	Gain	ESR2 SYNE2
nsv564905	Chr.14:63953695 - 64287643 on Build GRCh38	Gain	MIR548H1 ESR2 SYNE2
esv3634746	Chr.14:64169924 - 64294015 on Build GRCh38	Loss	ESR2 SYNE2
esv2748779	Chr.14:63663324 - 66595809 on Build GRCh38	Deletion	MIR548H1 MIR7855 GPX2 LOC100506321 SGPP1 ZBTB1 ESR2 PPP1R36 FUT8 ZBTB25 MIR4708 AKAP5 MIR4706 CHURC1-FNTB MAX FUT8-AS1 CHURC1 FNTB MIR625 LINC00238 TEX21P PLEKHG3 SPTB SYNE2 LOC100128233 MTHFD1 HSPA2 LOC102723809 RAB15 GPHN

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
ovarian follicle development
behavioral fear response
regulation of transcription, DNA-templated
transcription initiation from RNA polymerase II promoter
signal transduction
cell-cell signaling
learning or memory
response to water deprivation
response to activity
response to insecticide
cerebellum development
amygdala development
hypothalamus development
negative regulation of cell growth
intracellular estrogen receptor signaling pathway
prostate gland development
response to nutrient levels
response to testosterone
response to genistein
cellular response to drug
positive regulation of apoptotic process
regulation of neuron apoptotic process
response to estrogen
response to human chorionic gonadotropin
estrous cycle
response to ethanol
positive regulation of epidermal growth factor receptor signaling pathway
positive regulation of transcription, DNA-templated
positive regulation of vasodilation
positive regulation of transcription from RNA polymerase II promoter
negative regulation of smooth muscle cell proliferation
negative regulation of epithelial cell proliferation
positive regulation of sequence-specific DNA binding transcription factor activity
Sertoli cell development
Sertoli cell proliferation
positive regulation of ERK1 and ERK2 cascade
cellular response to magnetism
cellular response to estradiol stimulus
response to dexamethasone
extracellular negative regulation of signal transduction
negative regulation of neuron death
response to salt
response to bisphenol A
negative regulation of feeding behavior
negative regulation of reactive oxygen species metabolic process

Function(s)

core promoter sequence-specific DNA binding
DNA binding
transcription factor activity, sequence-specific DNA binding
steroid hormone receptor activity
transcription coactivator activity
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding
steroid binding
protein binding
drug binding
zinc ion binding
enzyme binding
estrogen receptor activity
estrogen response element binding
RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding
peroxisome proliferator activated receptor binding
receptor antagonist activity
estradiol binding
steroid hormone binding