NR3C2

GENE INFORMATION

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Gene name

NR3C2 (HGNC Symbol)

Synonyms

MLR, MR

Description

nuclear receptor subfamily 3, group C, member 2 (HGNC Symbol)

Entrez 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, Oct 2009]

Chromosome

4 (Chromosome progress)

Cytoband

q31.23

Chromosome location (bp)

148999913 - 149365850

Ensembl

ENSG00000151623 (version 73.37)

Entrez gene

4306

UniProt

P08235 (UniProt - Evidence at protein level)

neXtProt

NX_P08235

Antibodypedia

NR3C2 antibodies
 

PROTEIN VIEW

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NR3C2-001
 
NR3C2-002
 
NR3C2-003
 
NR3C2-004
 
NR3C2-009
 
NR3C2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NR3C2-001 ENSP00000341390
ENST00000344721
B0ZBF6
Show all »
Show » Show » 984 107.1 No 0
NR3C2-002 ENSP00000343907
ENST00000342437
B0ZBF8
Show all »
Show » Show » 706 75.1 No 0
NR3C2-003 ENSP00000350815
ENST00000358102
B0ZBF6
Show all »
Show » Show » 984 107.1 No 0
NR3C2-004 ENSP00000423510
ENST00000512865
P08235
Show all »
Show » Show » 867 94.4 No 0
NR3C2-009 ENSP00000421481
ENST00000511528
B0ZBF7
Show all »
Show » Show » 988 107.6 No 0
NR3C2-201 ENSP00000347441
ENST00000355292
B0ZBF7
Show all »
Show » Show » 988 107.6 No 0