NR3C2 nuclear receptor subfamily 3, group C, member 2 [Homo sapiens (human)]

Gene Symbol	NR3C2
Entrez Gene ID	4306
Full Name	nuclear receptor subfamily 3, group C, member 2
Synonyms	FLJ41052, MCR, MGC133092, MLR, MR, NR3C2VIT
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:4 Map Location:4q31.1
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].
Disorder	MIM: 600983 Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3);

mRNA	NM_000901, 260656018
Protein	NP_000892, 158508572
Product	mineralocorticoid receptor isoform 1
RefSeq Status	REVIEWED
mRNA	NM_001166104, 260656019
Protein	NP_001159576, 260656020
Product	mineralocorticoid receptor isoform 2
RefSeq Status	REVIEWED

KEGG

hsa04960

Aldosterone-regulated sodium reabsorption

WikiPathways

WP554

ACE Inhibitor Pathway

Reactome

REACT_12627	Generic Transcription Pathway
REACT_71	Gene Expression
REACT_15525	Nuclear Receptor transcription pathway

Homo sapiens (human)	NR3C2	NP_000892.2
Pan troglodytes (chimpanzee)	NR3C2	XP_001150516.1
Canis lupus familiaris (dog)	NR3C2	XP_532685.2
Bos taurus (cattle)	NR3C2	XP_001789894.1
Mus musculus (house mouse)	Nr3c2	NP_001077375.1
Rattus norvegicus (Norway rat)	Nr3c2	NP_037263.1
Gallus gallus (chicken)	NR3C2	XP_420437.2
Danio rerio (zebrafish)	nr3c2	NP_001093873.1

Process

ID	Name	Evidence
GO:0006351	transcription, DNA-dependent	TAS
GO:0006355	regulation of transcription, DNA-dependent	IEA
GO:0007165	signal transduction	TAS
GO:0010467	gene expression	TAS
GO:0034339	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	TAS
GO:0043401	steroid hormone mediated signaling pathway	TAS

Component

ID	Name	Evidence
GO:0005634	nucleus	IEA
GO:0005654	nucleoplasm	TAS
GO:0005737	cytoplasm	IEA
GO:0005783	endoplasmic reticulum	IEA
GO:0005789	endoplasmic reticulum membrane	IEA
GO:0016020	membrane	IEA

Function

ID	Name	Evidence
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA
GO:0003707	steroid hormone receptor activity	IEA
GO:0004872	receptor activity	IEA
GO:0005496	steroid binding	IEA
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	IEA
GO:0043565	sequence-specific DNA binding	IEA
GO:0046872	metal ion binding	IEA

GeneCards	NR3C2
PDB	1Y9R, 2AB2, 1YA3, 2AAX, 2A3I, 2OAX, 2AA5, 2AA2, 2AA7, 2ABI, 2AA6
UniProt	B0ZBF5, P08235, Q2NKL1, B0ZBF6
MIM	600983
Ensembl	ENSG00000151623
HGNC	7979
HPRD	02991

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RefSeq Accession	Definition	Sequence	Price	Select
NM_000901	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	Full Length	$2661.75
NM_000901		ORF Sequence	$856.95
NM_001166104	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 2, mRNA.	Full Length	$2503.80
NM_001166104		ORF Sequence	$755.16