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NR3C2

This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants.
Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Nuclear receptors, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Excitatory neurons, Inhibitory neurons, Astrocytes, Oligodendrocyte precursor cells, Microglial cells)

Immune cell specificity

Immune cell enhanced (MAIT T-cell)

Cell line specificity

Cell line enhanced (hTERT-RPE1, HUVEC TERT2, Karpas-707, PC-3, RPTEC TERT1, TIME)

Interaction

Heteromultimeric cytoplasmic complex with HSP90, HSP70, and FKBP4, in the absence of ligand. After ligand binding, it translocates to the nucleus and binds to DNA as a homodimer and as a heterodimer with NR3C1. May interact with HSD11B2 in the absence of ligand. Binds the coactivators NCOA1, NCOA2, TIF1 and NRIP1.

Molecular function

DNA-binding, Receptor

More Types Infomation

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