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  Domain Name: NR_LBD_MR
Ligand binding domain of the mineralocorticoid receptor, a member of the nuclear receptor superfamily. The ligand binding domain of the mineralocorticoid receptor (MR): MR, also called aldosterone receptor, is a member of nuclear receptor superfamily involved in the regulation of electrolyte and fluid balance. The receptor is activated by mineralocorticoids such as aldosterone and deoxycorticosterone as well as glucocorticoids, like cortisol and cortisone. Binding of its ligand results in its translocation to the cell nucleus, homodimerization and binding to hormone response elements (HREs) present in the promoter of MR controlled genes. This results in the recruitment of the coactivators and the transcription of the activated genes. MR is expressed in many tissues and its activation results in the expression of proteins regulating electrolyte and fluid balance. Like other members of the nuclear receptor (NR) superfamily of ligand-activated transcription factors, MR 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 LBD, in addition to binding ligand, contains a ligand-dependent activation function-2 (AF-2).
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 180
Total Disease Mutations Found: 165
This domain occurred 7 times on human genes (30 proteins).



  ANDROGEN INSENSITIVITY SYNDROME
  ANDROGEN INSENSITIVITY, COMPLETE
  ANDROGEN INSENSITIVITY, COMPLETE, INCLUDED
  ANDROGEN INSENSITIVITY, PARTIAL
  ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
  ESTROGEN RESISTANCE
  GLUCOCORTICOID RESISTANCE, CELLULAR
  GLUCOCORTICOID RESISTANCE, FAMILIAL
  GLUCOCORTICOID RESISTANCE, GENERALIZED
  HYPOSPADIAS 1, X-LINKED
  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
homodimer interface
coactivator recognition s
















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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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