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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NR3C2 Gene

protein-coding GIFtS: 65
GCID: GC04M148999

nuclear receptor subfamily 3, group C, member 2

(Previous symbol: MLR)

Explore 84 diseases affiliated with
NR3C2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nuclear Receptor Subfamily 3, Group C, Member 2¹ ²		Aldosterone Receptor²
MLR¹ ² ³ ⁵		Mineralocorticoid Receptor²
MR¹ ² ³		Mineralocorticoid Receptor 1²
MCR² ³ ⁵		Mineralocorticoid Receptor Delta²
NR3C2VIT²		Nuclear Receptor Subfamily 3 Group C Member 2³

External Ids:	HGNC: 7979¹	Entrez Gene: 4306²	Ensembl: ENSG00000151623⁷	OMIM: 600983⁵	UniProtKB: P08235³

Export aliases for NR3C2 gene to outside databases

Previous GC identifers: GC04M149808 GC04M149375 GC04M149577 GC04M149357 GC04M149219 GC04M144727

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for 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. (provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: MCR_HUMAN, P08235

Function: Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone

or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is

to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium

levels

summary for NR3C2:

Mineralocorticoid receptors (MRs) are nuclear hormone receptors of the NR3C class, which also includes

androgen, progesterone and glucocorticoid receptors. They can exist as homo- or heterodimers and are coupled

to Hsp90 or HMGB proteins. The major signaling pathway used by MRs is via direct DNA binding and

transcriptional regulation of target genes. They can also signal by binding to other proteins, mainly with

transcription factors such as NF-kappaB, AP-1 or STAT. MRs are expressed in epithelial tissues such as the

distal nephron and colon, and in non-epithelial tissues such as hippocampal and hypothalamic neurons.

Mineralocorticoid receptors are unique in that they have two physiological ligands; aldosterone and

cortisol, that act as critical regulators of serum sodium and other electrolytes and cardiovascular tone.

The human gene encoding the mineralocorticoid receptor has been localized to 4q31.1.

Gene Wiki entry for NR3C2 (Mineralocorticoid receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NR3C2 gene promoter:
TBP AP-1 ATF-2 CUTL1 PPAR-gamma1 TFIID PPAR-gamma2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NR3C2 promoter sequence

Search SABiosciences Chromatin IP Primers for NR3C2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NR3C2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q31.1 Ensembl cytogenetic band: 4q31.23 HGNC cytogenetic band: 4q31

NR3C2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR3C2 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M148999: view genomic region (about GC identifiers)

Start:	148,999,913 bp from pter	End:	149,365,850 bp from pter
Size:	365,938 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MCR_HUMAN, P08235 (See protein sequence)

Recommended Name: Mineralocorticoid receptor

Size: 984 amino acids; 107067 Da

Subunit: 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

Subcellular location: Cytoplasm. Nucleus. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Cytoplasmic

and nuclear in the absence of ligand; nuclear after ligand-binding. When bound to HSD11B2, it is found associated with

the endoplasmic reticulum membrane

6/13 PDB 3D structures from and Proteopedia for NR3C2 (see all 13):

1Y9R (3D)

1YA3 (3D)

2A3I (3D)

2AA2 (3D)

2AA5 (3D)

2AA6 (3D)

Secondary accessions: B0ZBF5 Q2NKL1 Q96KQ8 Q96KQ9

Alternative splicing: 4 isoforms: P08235-1 P08235-2 P08235-3 P08235-4 (Lacks steroid-binding activity and acts as ligand-independent transactivator)

Explore the universe of human proteins at neXtProt for NR3C2: NX_P08235

Post-translational modifications:

Phosphorylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P08235

NR3C2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000892.2 NP_001159576.1

ENSEMBL proteins:

ENSP00000341390 ENSP00000350815 ENSP00000423510 ENSP00000343907 ENSP00000421481

ENSP00000347441

Reactome Protein details: P08235
Human Recombinant Protein Products:

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	Novus Biologicals NR3C2 Protein Novus Biologicals NR3C2 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for NR3C2

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	--	--
GO:0005654	nucleoplasm	TAS	--
GO:0005737	cytoplasm	--	--
GO:0005789	endoplasmic reticulum membrane	IEA	--

NR3C2 for ontologies About GeneDecksing

NR3C2 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Novus Biologicals NR3C2 Antibodies
	Search for Antibodies for NR3C2 at Abcam
	Uscn Antibodies for NR3C2
	ThermoFisher Antibody for NR3C2

Assay Products for NR3C2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for NR3C2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NR3C2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NR3C2 for domains About GeneDecksing

4 InterPro domains/families:

IPR013088 Znf_NHR/GATA

IPR008946 Nucl_hormone_rcpt_ligand-bd

IPR000536 Nucl_hrmn_rcpt_lig-bd_core

IPR001628 Znf_hrmn_rcpt

Graphical View of Domain Structure for InterPro Entry P08235

ProtoNet protein and cluster: P08235

1 Blocks protein family: IPB000324 Vitamin D receptor signature

UniProtKB/Swiss-Prot: MCR_HUMAN, P08235

Domain: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding

domain

Similarity: Belongs to the nuclear hormone receptor family. NR3 subfamily

Similarity: Contains 1 nuclear receptor DNA-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MCR_HUMAN, P08235

Function: Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone

or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is

to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium

levels

Genatlas biochemistry entry for NR3C2:

nuclear recptor subafamily 3,group C,member 1,steroid/thyroid hormone receptor superfamily

miRNA Products:		miRTarBase miRNAs that target NR3C2: hsa-mir-135a (MIRT001167), hsa-mir-124 (MIRT001168)

		OriGene 3'-UTR Clone (see all 2): NR3C2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NR3C2
		8/77 QIAGEN miScript miRNA Assays for microRNAs that regulate NR3C2 (see all 77):
		hsa-miR-548j hsa-miR-3607-3p hsa-miR-4272 hsa-miR-30d hsa-miR-30a hsa-miR-3613-3p hsa-miR-548a-5p hsa-miR-130b

		SwitchGear 3'UTR luciferase reporter plasmid: NR3C2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NR3C2 (see all 7) OriGene shRNA RFP: NR3C2 OriGene siRNA: NR3C2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NR3C2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for NR3C2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NR3C2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NR3C2 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): NR3C2 (NM_000901)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NR3C2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NR3C2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NR3C2
		Search LifeMap BioReagents cell lines for NR3C2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR3C2

Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003690	double-stranded DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0003707	steroid hormone receptor activity	IEA	--
GO:0004872	receptor activity	--	--
GO:0005496	steroid binding	IEA	--

NR3C2 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for NR3C2:

Increased cell death HMECs cel

Increased cell death in breast

Animal Models:
Mouse knock-out Nr3c2^tm2.1Gsc for NR3C2
8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Nr3c2):

behavior/neurological	cardiovascular system	growth/size	hematopoietic system	homeostasis/metabolism
mortality/aging	nervous system	renal/urinary system

NR3C2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics

	ACE Inhibitor Pathway, Pharmacodynamics	1.00			ACE Inhibitor Pathway	0.85
	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics	1.00

Generic Transcription Pathway

Generic Transcription Pathway

1.00

Gene Expression

0.46

Nuclear Receptor transcription pathway

Nuclear Receptor transcription pathway

1.00

Aldosterone-regulated sodium reabsorption

Aldosterone-regulated sodium reabsorption

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for NR3C2

ACE Inhibitor Pathway

3 Reactome Pathways for NR3C2

	Generic Transcription Pathway
	Nuclear Receptor transcription pathway
	Gene Expression

2 PharmGKB Pathways for NR3C2

	ACE Inhibitor Pathway, Pharmacodynamics
	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for NR3C2):

Aldosterone-regulated sodium reabsorption

NR3C2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NR3C2

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/24 Interacting proteins for NR3C2 (P08235³ ENSP00000350815⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NR3C1	P04150³, ENSP00000231509⁴	I2D: score=3 STRING: ENSP00000231509
FKBP4	Q02790³, ENSP00000001008⁴	I2D: score=2 STRING: ENSP00000001008
PIAS1	O75925³, ENSP00000249636⁴	I2D: score=2 STRING: ENSP00000249636
AR	P10275³, ENSP00000363822⁴	I2D: score=1 STRING: ENSP00000363822
TRIM24	O15164³, ENSP00000340507⁴	I2D: score=2 STRING: ENSP00000340507

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	--	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	--
GO:0006883	cellular sodium ion homeostasis	IEA	--
GO:0007165	signal transduction	TAS	3037703

NR3C2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NR3C2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for NR3C2 available from Tocris Bioscience About this table

Compound	Action	CAS #
Canrenone	Mineralocorticoid receptor antagonist	[976-71-6]
RU 28318, potassium salt	Potent, selective mineralocorticoid receptor antagonist	[76676-34-1]
RU 26752	Mineralocorticoid receptor antagonist	[76676-33-0]
Eplerenone	Selective mineralocorticoid receptor antagonist	[107724-20-9]
Spironolactone	Mineralocorticoid receptor antagonist	[52-01-7]

6 HMDB Compounds for NR3C2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Aldosterone	(+)-Aldosterone (see all 22)	52-39-1	17364595
Cortexolone	11-Deoxy-17-hydroxycorticosterone (see all 21)	152-58-9	--
Corticosterone	11,21-Dihydroxypregn-4-ene-3,20-dione (see all 8)	50-22-6	--
Cortisol	11-Hydrocortisone (see all 173)	50-23-7	--
Deoxycorticosterone	11-Dehydroxycorticosterone (see all 21)	64-85-7	--
Sodium	Sodium (see all 2)	7440-23-5	--

10/11 DrugBank Compounds for NR3C2 (see all 11) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Spironolactone	--	52-01-7	target	antagonist	15128471 14664717 11791081 14978157 15808807 11752352 15947888 15554912
Fludrocortisone	--	127-31-1	target	agonist	17666187 8733007 12198239 8157723 11752352 12888122
Desoxycorticosterone Pivalate	Deoxycorticosterone Pivalate (see all 9)	808-48-0	target	agonist	744157 17139284 11752352 17016423 6227474
Drospirenone	6β,7β,15β,16β-dimethylene-3-oxo-17α-pregn-4-ene-21,17 carbolactone (see all 4)	67392-87-4	target	antagonist	8922878 11752352 11024226 8732994 7625729
Eplerenone	--	107724-20-9	target	antagonist	14607457 11752352 15554912 14503934
Aldosterone	(+)-aldosterone (see all 18)	52-39-1	target	--	17724138 9392437 10592235
Fluticasone Propionate	--	80474-14-2	target	antagonist	16507850 12503693
(11-BETA)-11,21-DIHYDROXY-PREGN-4-ENE-3,20-DIONE	--	--	target	--	10592235
Felodipine	Dl-Felodipine (see all 4)	72509-76-3	target	antagonist	18250364
Nimodipine	Nimodipino [INN-Spanish] (see all 2)	66085-59-4	target	antagonist	18250364

10/103 Novoseek chemical compound relationships for NR3C2 gene (see all 103) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
11beta-hydroxysteroid	95.4	200	7743156 (3), 7777721 (2), 8136102 (2), 7600648 (2) (see all 99)
spironolactone	93.9	231	1313229 (5), 15554912 (5), 14664717 (4), 17569793 (4) (see all 99)
eplerenone	93.7	101	15554912 (7), 16101407 (3), 10760075 (2), 19804189 (2) (see all 54)
cortisone	91.3	78	11350956 (2), 12538613 (2), 11306334 (1), 15643127 (1) (see all 62)
potassium canrenoate	86.4	12	9710353 (1), 15472204 (1), 17602195 (1), 8115025 (1) (see all 10)
ru 26752	85.4	4	12657604 (1), 1314085 (1), 15716462 (1)
11-dehydrocorticosterone	85.3	14	12711009 (3), 7777721 (1), 1734933 (1), 7988441 (1) (see all 8)
tetrahydrocortisone	84.9	1	12944030 (1)
carbenoxolone	82.1	15	7962269 (2), 9182864 (2), 1958552 (1), 15862816 (1) (see all 12)
11,19-oxidoprogesterone	81.2	10	10860927 (3), 11909639 (2), 18001136 (2)

Search CenterWatch for drugs/clinical trials and news about NR3C2 / MCR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NR3C2 gene (2 alternative transcripts):

NM_000901.4 NM_001166104.1

Unigene Cluster for NR3C2:

Nuclear receptor subfamily 3, group C, member 2

Hs.163924 [show with all ESTs]

Unigene Representative Sequence: NM_000901

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000344721 ENST00000358102 ENST00000512865 ENST00000342437 ENST00000511528

ENST00000503313 ENST00000503174 ENST00000504753 ENST00000355292(uc003ilj.4 uc003ilk.4 uc010iph.3)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NR3C2
		8/77 QIAGEN miScript miRNA Assays for microRNAs that regulate NR3C2 (see all 77):
		hsa-miR-548j hsa-miR-3607-3p hsa-miR-4272 hsa-miR-30d hsa-miR-30a hsa-miR-3613-3p hsa-miR-548a-5p hsa-miR-130b

		SwitchGear 3'UTR luciferase reporter plasmid: NR3C2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NR3C2 (see all 7) OriGene shRNA RFP: NR3C2 OriGene siRNA: NR3C2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NR3C2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NR3C2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NR3C2 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): NR3C2 (NM_000901)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NR3C2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NR3C2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NR3C2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat NR3C2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NR3C2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NR3C2

Additional cDNA sequence:

AB209056.1 AJ315515.1 AK123047.1 AK304318.1 BC111758.1 M16801.1

8 DOTS entries:

DT.413476 DT.100774246 DT.101974427 DT.121250027 DT.121250041 DT.91756804 DT.97774369 DT.121249981

24/80 AceView cDNA sequences (see all 80):

CD370581 BM676581 CK429233 CB159499 BM819064 BQ083864 BM830693 BM714196

AJ315515 BM830782 AJ315514 BU608557 BQ187633 BQ892596 BM968064 BM823641

BE504300 AW945145 AA682777 AL041328 CB162776 AA568349 AL708971 AA447079

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NR3C2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See NR3C2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NR3C2

SOURCE GeneReport for Unigene cluster: Hs.163924

UniProtKB/Swiss-Prot: MCR_HUMAN, P08235

Tissue specificity: Ubiquitous. Highly expressed in distal tubules, convoluted tubules and cortical collecting duct in

kidney, and in sweat glands. Detected at lower levels in cardiomyocytes, in epidermis and in colon enterocytes

SABiosciences Expression via Pathway-Focused PCR Array including NR3C2:

Nuclear Receptors & Coregulators in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for NR3C2 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	NR3C2¹	nuclear receptor subfamily 3, group C, member 2	78.21(n) 83.35(a)		374131 NM_001159345.1 NP_001152817.1
lizard (Anolis carolinensis)	Reptilia	NR3C2⁶	--	80(a)	1 ↔ 1	5(133753555-133913452)
African clawed frog (Xenopus laevis)	Amphibia	Xl.970²	Xenopus laevis mineralocorticoid receptor mRNA, partial more	79.73(n)		U15133.1
zebrafish (Danio rerio)	Actinopterygii	nr3c2¹	nuclear receptor subfamily 3, group C, member 2	58.47(n) 53.64(a)		562171 NM_001100403.1 NP_001093873.1
worm (Caenorhabditis elegans)	Secernentea	nhr-25⁶	Nuclear hormone receptor family member nhr-25	13(a)	1 → many	X(13008424-13013892)

ENSEMBL Gene Tree for NR3C2 (if available)
TreeFam Gene Tree for NR3C2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for NR3C2 gene

ESRRA² RXRG² PGR² ESR2² ESRRB² HNF4G² NR2F6² NR2E1²

ESRRG² RXRA² NR2F1² NR3C1² NR2F2² AR² ESR1² NR2C1²

HNF4A² NR2C2² RXRB²

18/53 SIMAP similar genes for NR3C2 using alignment to 5 protein entries: MCR_HUMAN (see all proteins) (see all similar genes):

ESRRB ERRgamma ESRRG NR1H3 NR1I1 NR1I2

NR5A2 NR1H2 AR NR1F2 NR1F3 NR2F6

RORA RORB RORC NR6A1 ESR2 NR1A2

NR3C2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for NR3C2
3 CNVs: 63980 6334 36207
1 Indel: 46532
Human Gene Mutation Database (HGMD): NR3C2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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NR3C2 for disorders           About GeneDecksing

OMIM gene information: 600983
OMIM disorders: 177735  605115
UniProtKB/Swiss-Prot: MCR_HUMAN, P08235

Defects in NR3C2 are a cause of pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]. A salt

wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized

by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic

acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without

treatment

Defects in NR3C2 are a cause of early-onset hypertension with severe exacerbation in pregnancy (EOHSEP)

[MIM:605115]. Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension

before the age of 20, and by suppression of aldosterone secretion

20/84 diseases for NR3C2 (see all 84): About MalaCards

aldosteronism pseudohypoaldosteronism type i hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy pseudohypoaldosteronism

glucocorticoid-remediable aldosteronism apparent mineralocorticoid excess syndrome hypertension autosomal dominant pseudohypoaldosteronism type 1

high blood pressure end stage renal failure enhanced s-cone syndrome polycystic ovary syndrome

systolic heart failure renal tubular acidosis conn's syndrome myocardial infarction

atrial fibrillation androgenetic alopecia acute myocardial infarction adrenal hyperplasia

2 diseases from the University of Copenhagen DISEASES database for NR3C2:

Pseudohypoaldosteronism Lymphoma

10/92 Novoseek disease relationships for NR3C2 gene (see all 92) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pseudohypoaldosteronism	91.1	37	20453518 (3), 7883835 (2), 17287415 (2), 12788847 (2) (see all 25)
hyperaldosteronism	82.3	10	19443576 (1), 7804754 (1), 11353578 (1), 17683282 (1) (see all 9)
aldosteronism primary	79.8	9	15808808 (1), 18594273 (1), 16823578 (1), 19356005 (1) (see all 9)
liddles syndrome	79.1	10	12715144 (2), 15980941 (1), 11740142 (1), 12959913 (1) (see all 8)
mineralocorticoid hypertension	78.7	4	12715144 (1), 9238855 (1), 12852254 (1)
hypokalemia	73.6	22	10760070 (1), 17314322 (1), 11446888 (1), 15761540 (1) (see all 16)
glucocorticoid-remediable aldosteronism	73.4	4	11740142 (1), 12715144 (1), 12959913 (1)
hyperkalemia	69.4	9	15016134 (2), 16503757 (1), 19347366 (1), 20093814 (1) (see all 6)
essential hypertension	66.2	17	8116017 (2), 18387084 (1), 14608520 (1), 19804189 (1) (see all 11)
adrenal hyperplasia	59.9	2	18552288 (1), 15808809 (1)

Genetic Association Database (GAD): NR3C2
Human Genome Epidemiology (HuGE) Navigator: NR3C2 (35 documents)

Export disorders for NR3C2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for NR3C2 gene, integrated from 9 sources (see all 935):
(articles sorted by number of sources associating them with NR3C2)

Utopia: connect your pdf to the dynamic
world of online information

The unliganded mineralocorticoid receptor is associated with heat shock proteins 70 and 90 and the immunophilin FKBP-52. (PubMed id 9392437)^{1, 2, 7, 9} Bruner K.L.... Litwack G. (1997)
The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2. (PubMed id 11350956)^{1, 2, 9} Odermatt A.... Frey F.J. (2001)
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. (PubMed id 16954160)^{1, 2, 9} Riepe F.G.... Krone N. (2006)
Structural and biochemical mechanisms for the specificity of hormone binding and coactivator assembly by mineralocorticoid receptor. (PubMed id 16061183)^{1, 2, 9} Li Y.... Xu H.E. (2005)
Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. (PubMed id 12483305)^{1, 2, 9} Arai K....Shibasaki T. (2003)
A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action. (PubMed id 11518808)^{1, 2, 9} Zennaro M.-C.... Lombes M. (2001)
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. (PubMed id 16972228)^{1, 2, 9} Pujo L.... Zennaro M.-C. (2007)
Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension. (PubMed id 15908963)^{1, 2, 9} Fagart J....Rafestin-Oblin M.-E. (2005)
Clinical and genetic correlates of serum aldosterone in the community: the Framingham Heart Study. (PubMed id 15882548)^{1, 4, 9} Kathiresan S....Vasan R.S. (2005)
A ligand-mediated hydrogen bond network required for the activation of the mineralocorticoid receptor. (PubMed id 15967794)^{1, 2, 9} Bledsoe R.K....Williams S.P. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4306	HGNC: 7979	AceView: NR3C2	Ensembl:ENSG00000151623	euGenes: HUgn4306
ECgene: NR3C2	Kegg: 4306	H-InvDB: NR3C2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NR3C2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for NR3C2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NR3C2
Wikipedia	http://en.wikipedia.org/wiki/Mineralocorticoid_receptor

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NR3C2 Gene

nuclear receptor subfamily 3, group C, member 2

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Pseudohypoaldosteronism
hypercortisolemia
Anxiety Disorders
essential hypertension
Death Sudden Cardiac
Acute myocardial infarction
insulin sensitivity
Atherosclerosis
Intoxication
Ischemia
Breast Cancer
MYOCARDIAL FIBROSIS
GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM
Mood Disorders
mineralocorticoid hypertension
mammary tumor
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metabolic acidosis
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psychiatric disorder
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prostate cancer
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major depression
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hypercortisolism
rare disease
small cell lung cancer
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Albuminuria
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Heart Diseases
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Adenoma
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Hibernoma
OBESITY
Polycystic Ovary Syndrome
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ADRENAL TUMOR
STROKE
fluid retention
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Hyperkalemia
genetic disorder
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NR3C2 Gene

nuclear receptor subfamily 3, group C, member 2

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