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  Domain Name: NR_LBD_ER
Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen). The ligand binding domain (LBD) of Estrogen receptor (ER): Estrogen receptor, a member of nuclear receptor superfamily, is activated by the hormone estrogen. Estrogen regulates many physiological processes including reproduction, bone integrity, cardiovascular health, and behavior. The main mechanism of action of the estrogen receptor is as a transcription factor by binding to the estrogen response element of target genes upon activation by estrogen and then recruiting coactivator proteins which are responsible for the transcription of target genes. Additionally some ERs may associate with other membrane proteins and can be rapidly activated by exposure of cells to estrogen. Like other members of the nuclear receptor (NR) superfamily of ligand-activated transcription factors, ER has a central well conserved DNA binding domain (DBD), a variable N-terminal domain, a flexible hinge and a C-terminal ligand binding domain (LBD). The C-terminal LBD also contains AF-2 activation motif, the dimerization motif, and part of the nuclear localization region. Estrogen receptor has been linked to aging, cancer, obesity and other diseases.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 210
Total Disease Mutations Found: 175
This domain occurred 33 times on human genes (137 proteins).



  46,XY SEX REVERSAL 3
  ADRENOCORTICAL INSUFFICIENCY
  ANDROGEN INSENSITIVITY SYNDROME
  ANDROGEN INSENSITIVITY, COMPLETE
  ANDROGEN INSENSITIVITY, COMPLETE, INCLUDED
  ANDROGEN INSENSITIVITY, PARTIAL
  ENHANCED S-CONE SYNDROME
  ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
  ESTROGEN RESISTANCE
  GLUCOCORTICOID RESISTANCE, CELLULAR
  GLUCOCORTICOID RESISTANCE, FAMILIAL
  GLUCOCORTICOID RESISTANCE, GENERALIZED
  GOLDMANN-FAVRE SYNDROME, INCLUDED
  HYPOSPADIAS 1, X-LINKED
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
  MICROPHTHALMIA, SYNDROMIC 12
  PREMATURE OVARIAN FAILURE 7, INCLUDED
  PROSTATE CANCER
  PROSTATE CANCER SUSCEPTIBILITY
  PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID
  PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
  RESISTANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
ligand binding site
coactivator recognition s
dimer interface














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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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