Version 5.4
Homo sapiens Gene: NR3C2
Summary
InnateDB Gene IDBG-40591.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NR3C2
Gene Name nuclear receptor subfamily 3, group C, member 2
Synonyms MCR; MLR; MR; NR3C2VIT
Species Homo sapiens
Ensembl Gene ENSG00000151623
Encoded Proteins
IDBP-40595
nuclear receptor subfamily 3, group C, member 2
IDBP-40597
nuclear receptor subfamily 3, group C, member 2
IDBP-40599
nuclear receptor subfamily 3, group C, member 2
IDBP-477599
nuclear receptor subfamily 3, group C, member 2
IDBP-475383
nuclear receptor subfamily 3, group C, member 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:148078762-148444698
Strand Reverse strand
Band q31.23
Transcripts
ENST00000358102 ENSP00000350815
ENST00000344721 ENSP00000341390
ENST00000342437 ENSP00000343907
ENST00000512865 ENSP00000423510
ENST00000511528 ENSP00000421481
ENST00000503313
ENST00000503174
ENST00000504753
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 33 [view]
Protein-Protein 31 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003707 steroid hormone receptor activity
GO:0005496 steroid binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006883 cellular sodium ion homeostasis
GO:0007165 signal transduction
GO:0007588 excretion
GO:0010467 gene expression
GO:0043401 steroid hormone mediated signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0043235 receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031618
View Gene Order
ENSBTAG00000027182
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04960
Aldosterone-regulated sodium reabsorption pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.163924 Hs.606257
RefSeq NM_000901 NM_001166104 XM_005263014 XM_006714222
HUGO
OMIM
CCDS CCDS3772 CCDS54811
HPRD 02991
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca