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FLASH GENE

Symbol

ESR2

contributors: mct/npt/pgu - updated : 19-02-2018

HGNC name	estrogen receptor 2 (ER beta)
HGNC id	3468

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	14q23.2      Physical location : 64.693.752 - 64.805.268
Synonym name	estrogen receptor beta
	nuclear receptor subfamily 3 group A member 2
Synonym symbol(s)	NR3A2, ESRB, ERB, ER-BETA, ESR-BETA, ESTRB

DNA

TYPE	functioning gene
STRUCTURE	111.52 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (TATA box)
	cytosine-phosphate-guanine/HTF
text structure	CA repeat in intron 5

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see ULCR14

RNA

TRANSCRIPTS	type	messenger

text	three full length isoforms,two truncated indiffering in their C terminus,having deletions in various combination of exons and tissue expression patterns

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 4 - - - isoform 4 - 548 - 2002 11897716 also called ESRB548 having an extended amino-terminal domain NM_001437 9 - 2169 NP_001428 - 530 - 1997 9325313 also called variant a NM_001040275 9 - 2470 NP_001035365 - 495 - 1997 9325313 also called variant b NM_001040276 9 - 2745 NP_001035366 - 495 - 1997 9325313 also called variant c

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic thymus         Nervous brain         Reproductive male system testis         male system prostate       Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose brown   moderately Homo sapiens Fetal

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatogonia

cell lineage
cell lines	lung adenomatous hyperplasia cells
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal modulator domain
	a central bipartite zinc finger DNA binding domain
	a nuclear localization signal (NLS)
	a C terminal ligand binding domain, including a transactivation and dimerization domain

HOMOLOGY

interspecies

homolog to murine Esr2

Homologene

FAMILY	steroid/thyroid receptor superfamily
	NR3 subfamily

CATEGORY

regulatory , signaling hormone , receptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus
text	is predominately located in mitochondria, and ESR2 may be associated with HADHB in mitochondria

basic FUNCTION	playing a role in tumorigenesis (lung adenocarcinoma) and modulation of the estrogen response in testis
	may be modulating mitochondrial gene expression through binding to the similar estrogen receptor element (ERE) sequences in the mitochondrial genome
	together with the ESR1, mediates many of the physiological effects of estrogens
	ESR1, ESR2 may differentially affect cellular oxidative stress through influencing the rate of beta-oxidation of fatty acids in breast cancer cells
	potential role for ESR1, ESR2 in fetal brown adipose tissue development, primarily via ESR1
	possible role of both ESR1, ESR2 in mitochondriogenesis

CELLULAR PROCESS	nucleotide, chromatin organization, remodeling
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

hormonal

estrogen; large scale chromatin unfolding activity

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	interact with DBC1 in a ligand-independent manner similar to ESR1
	number of factors that can interfere with ESR2 activity, such as phytoestrogens, endocrine disruptive chemicals, and growth factors
	NCOA2 interacts with ESR1, ESR2 and PGR in a subtype-specific manner, which may contribute to the functional differences of these steroid receptor subtypes in brain
	ESR1, ESR2 coordinate with MLL and MLL3 in E2-mediated transcriptional regulation of HOXB9
	many of the FOXL2/ESR2 targets are involved in cell motility and, consistently, granulosa cells depleted for either FOXL2 or ESR2 exhibit decreased migration, invasion and adhesion

cell & other

REGULATION

activated by

ARNT that functions as an estrogen receptor beta-selective coactivator

Other

expression levels are under circadian control and can be regulated by DNA methylation of the promoter region

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to Alzheimer disease in women to premature coronary artery disease to adult height variation in Caucasians women to osteoporosis to risk of hypospadias

Variant & Polymorphism SNP	SNP2 T/T genotype and the SNP3 T/T genotype were associated with a significant, nearly two-fold increase in the risk of Alzheimer in women
	SNP linked to adult height variation in Caucasians women
	increasing coronary artery disease
	G allele containing variants of ESR2 2681-4A>G may decrease the risk of hypospadias

Candidate gene	potential target for therapeutic approach protecting the brain from-age related neurodegeneration
Marker
Therapy target

ANIMAL & CELL MODELS