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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
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
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - - - 548 - 2002 11897716
  • also called ESRB548
  • having an extended amino-terminal domain
  • 9 - 2169 - 530 - 1997 9325313
    also called variant a
    9 - 2470 - 495 - 1997 9325313
    also called variant b
    9 - 2745 - 495 - 1997 9325313
    also called variant c
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Nervousbrain    
    Reproductivemale systemtestis   
     male systemprostate   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadiposebrown moderately Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatogonia
    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
  • 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