| Entrez gene ID | | 4306 |
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| Official gene symbol | | NR3C2 |
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| Full name | | nuclear receptor subfamily 3, group C, member 2 |
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| Aliases | | ,FLJ41052,MCR,MGC133092,MLR,MR,NR3C2VIT, |
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| Gene summary | | 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. [provided by RefSeq] |
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| Location | | Chromosome: 4 Locus: 4q31.1 |
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| Gene position | | 149363672 - 148999915 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 363758 bp |
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| Gene sequence |
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| OMIM ID | | 600983 |
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