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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000901 Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_001166104 Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_005263014 PREDICTED: Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_006714222 PREDICTED: Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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Related Services

Gene Symbol NR3C2
Entrez Gene ID 4306
Full Name nuclear receptor subfamily 3, group C, member 2
Synonyms MCR, MLR, MR, NR3C2VIT
General protein information
Preferred Names
mineralocorticoid receptor
Names
mineralocorticoid receptor
aldosterone receptor
mineralocorticoid receptor 1
mineralocorticoid receptor delta
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

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, Oct 2009].
Disorder

MIM: 600983

Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3);

mRNA Protein Product Sequence Price Select
NM_000901, 260656018 NP_000892, 158508572 mineralocorticoid receptor isoform 1 ORF Sequence $750.00
NM_001166104, 260656019 NP_001159576, 260656020 mineralocorticoid receptor isoform 2 ORF Sequence $750.00
XM_005263014, 530377729 XP_005263071, 530377730 mineralocorticoid receptor isoform X1 ORF Sequence $750.00
XM_006714222, 578809135 XP_006714285, 578809136 mineralocorticoid receptor isoform X2 ORF Sequence $750.00
KEGG
hsa04960Aldosterone-regulated sodium reabsorption
WikiPathways
WP554ACE Inhibitor Pathway
Reactome
REACT_12627Generic Transcription Pathway
REACT_71Gene Expression
REACT_15525Nuclear Receptor transcription pathway
Homo sapiens (human)NR3C2NP_000892.2
Pan troglodytes (chimpanzee)NR3C2XP_001150516.1
Macaca mulatta (Rhesus monkey)NR3C2XP_001099855.2
Canis lupus familiaris (dog)NR3C2XP_003639585.2
Bos taurus (cattle)NR3C2NP_001178278.1
Mus musculus (house mouse)Nr3c2NP_001077375.1
Rattus norvegicus (Norway rat)Nr3c2NP_037263.1
Gallus gallus (chicken)NR3C2NP_001152817.1
Danio rerio (zebrafish)nr3c2NP_001093873.1
Danio rerio (zebrafish)LOC100534796XP_003197725.1
Xenopus (Silurana) tropicalis (western clawed frog)nr3c2XP_002933547.2
Process
IDNameEvidence
GO:0006355regulation of transcription, DNA-templatedIEA
GO:0006367transcription initiation from RNA polymerase II promoterTAS
GO:0007165signal transductionTAS
GO:0010467gene expressionTAS
GO:0043401steroid hormone mediated signaling pathwayIEA
Component
IDNameEvidence
GO:0005654nucleoplasmTAS
GO:0005789endoplasmic reticulum membraneIEA
GO:0043235receptor complexIDA
Function
IDNameEvidence
GO:0003700sequence-specific DNA binding transcription factor activityIEA
GO:0003707steroid hormone receptor activityIEA
GO:0005496steroid bindingIEA
GO:0005515protein bindingIPI
GO:0008270zinc ion bindingIEA
GO:0043565sequence-specific DNA bindingIEA
GeneCards NR3C2
PDB 3VHV, 3WFG, 1Y9R, 2AB2, 1YA3, 3VHU, 2AAX, 2A3I, 2OAX, 2AA5, 2AA2, 2AA7, 2ABI, 2AA6, 3WFF
UniProt P08235, B0ZBF6
Vega OTTHUMG00000161455
MIM 600983
Ensembl ENSG00000151623
HGNC 7979
HPRD 02991

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the NR3C2 gene?

The NR3C2 gene provides instructions for making a protein called the mineralocorticoid receptor. This protein is important in regulating the amount of sodium in the body. Sodium regulation plays a role in blood pressure control and fluid balance. Certain hormones called mineralocorticoids attach (bind) to and turn on (activate) the mineralocorticoid receptor. Aldosterone is one mineralocorticoid that activates the mineralocorticoid receptor. The activated mineralocorticoid receptor acts as a transcription factor, which is a protein that binds to specific regions of DNA and helps control the activity (transcription) of particular genes.

The mineralocorticoid receptor regulates specialized proteins in the cell membrane that control the transport of sodium or potassium into cells. In response to signals that sodium levels in the body are low, the mineralocorticoid receptor increases the number and activity of these proteins at the cell membrane, especially in certain kidney cells. One of these proteins transports sodium into the cell, while another protein simultaneously transports sodium out of the cell and potassium into the cell. These proteins help keep sodium in the body through a process called reabsorption and remove potassium from the body through a process called secretion.

Interactant

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