Gene/Proteome Database (LMPD)

LMPD ID
LMP002058
Gene ID
4306
Species
Homo sapiens (Human)
Gene Name
nuclear receptor subfamily 3, group C, member 2
Gene Symbol
NR3C2
Synonyms
MCR; MLR; MR; NR3C2VIT
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, Oct 2009]
Orthologs
View orthologs and multiple alignments for NR3C2

Proteins

mineralocorticoid receptor isoform 1
Refseq ID NP_000892
Protein GI 158508572
UniProt ID P08235
mRNA ID NM_000901
Length 984
RefSeq Status REVIEWED
METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNSTQGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYEQQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAVVKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPNVENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSPANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVPSPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSDSSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYFSFMDDKDYYSLSGILGPPVPGFDGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHYRIGAQGTISLSRSARDQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPSKICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRLQKCLQAGMNLGARKSKKLGKLKGIHEEQPQQQQPPPPPPPPQSPEEGTTYIAPAKEPSVNTALVPQLSTISRALTPSPVMVLENIEPEIVYAGYDSSKPDTAENLLSTLNRLAGKQMIQVVKWAKVLPGFKNLPLEDQITLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKMHQSAMYELCQGMHQISLQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYIKELRKMVTKCPNNSGQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAMLVEIISDQLPKVESGNAKPLYFHRK
mineralocorticoid receptor isoform 2
Refseq ID NP_001159576
Protein GI 260656020
UniProt ID P08235
mRNA ID NM_001166104
Length 867
RefSeq Status REVIEWED
METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNSTQGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYEQQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAVVKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPNVENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSPANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVPSPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSDSSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYFSFMDDKDYYSLSGILGPPVPGFDGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHYRIGAQGTISLSRSARDQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPSKICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRLQKCLQAGMNLGGFKNLPLEDQITLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKMHQSAMYELCQGMHQISLQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYIKELRKMVTKCPNNSGQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAMLVEIISDQLPKVESGNAKPLYFHRK

Gene Information

Entrez Gene ID
4306
Gene Name
nuclear receptor subfamily 3, group C, member 2
Gene Symbol
NR3C2
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005783 IEA:UniProtKB-KW C endoplasmic reticulum
GO:0016020 IEA:UniProtKB-KW C membrane
GO:0005654 TAS:Reactome C nucleoplasm
GO:0043235 IDA:MGI C receptor complex
GO:0043565 IEA:InterPro F sequence-specific DNA binding
GO:0003700 TAS:ProtInc F sequence-specific DNA binding transcription factor activity
GO:0005496 IEA:UniProtKB-KW F steroid binding
GO:0003707 TAS:ProtInc F steroid hormone receptor activity
GO:0008270 IEA:InterPro F zinc ion binding
GO:0010467 TAS:Reactome P gene expression
GO:0007165 TAS:ProtInc P signal transduction
GO:0006367 TAS:Reactome P transcription initiation from RNA polymerase II promoter

KEGG Pathway Links

KEGG Pathway ID Description
hsa04960 Aldosterone-regulated sodium reabsorption
ko04960 Aldosterone-regulated sodium reabsorption

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_15525 Nuclear Receptor transcription pathway

Domain Information

InterPro Annotations

Accession Description
IPR008946 Nuclear hormone receptor, ligand-binding
IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR013088 Zinc finger, NHR/GATA-type
IPR001628 Zinc finger, nuclear hormone receptor-type

UniProt Annotations

Entry Information

Gene Name
nuclear receptor subfamily 3, group C, member 2
Protein Entry
MCR_HUMAN
UniProt ID
P08235
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist.; Name=1; IsoId=P08235-1; Sequence=Displayed; Name=2; IsoId=P08235-2; Sequence=VSP_007358, VSP_007359; Note=Lacks steroid-binding activity and acts as ligand-independent transactivator.; Name=3; IsoId=P08235-3; Sequence=VSP_007357; Name=4; Synonyms=Delta; IsoId=P08235-4; Sequence=VSP_007360;
Disease Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM
Disease Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM
Domain Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
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.
Ptm Phosphorylated.
Similarity Belongs to the nuclear hormone receptor family. NR3 subfamily.
Similarity Contains 1 nuclear receptor DNA-binding domain.
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.
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. {ECO
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.
Web Resource Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NR3C2ID44262ch4q31.html";
Web Resource Name=Wikipedia; Note=Mineralocorticoid receptor entry; URL="http://en.wikipedia.org/wiki/Mineralocorticoid_receptor";

Identical and Related Proteins

Unique RefSeq proteins for LMP002058 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
158508572 RefSeq NP_000892 984 mineralocorticoid receptor isoform 1
260656020 RefSeq NP_001159576 867 mineralocorticoid receptor isoform 2

Identical Sequences to LMP002058 proteins

Reference Database Accession Length Protein Name
GI:158508572 GenBank ACA05923.1 984 nuclear receptor subfamily 3, group C, member 2 variant 1 [Homo sapiens]
GI:260656020 GenBank ACA05924.1 867 nuclear receptor subfamily 3, group C, member 2 variant 2 [Homo sapiens]
GI:158508572 GenBank ACS13715.1 984 mineralocorticoid receptor [Homo sapiens]
GI:260656020 GenBank ACS13716.1 867 mineralocorticoid receptor 1 [Homo sapiens]
GI:158508572 RefSeq XP_005263071.1 984 PREDICTED: mineralocorticoid receptor isoform X1 [Homo sapiens]
GI:158508572 RefSeq XP_006714285.1 984 PREDICTED: mineralocorticoid receptor isoform X2 [Homo sapiens]

Related Sequences to LMP002058 proteins

Reference Database Accession Length Protein Name
GI:158508572 DBBJ BAJ17720.1 984 nuclear receptor subfamily 3, group C, member 2, partial [synthetic construct]
GI:158508572 GenBank AAA59571.1 984 mineralocorticoid receptor [Homo sapiens]
GI:158508572 GenBank AAE72579.1 984 Sequence 15 from patent US 6236946
GI:260656020 GenBank AAI11759.1 867 NR3C2 protein [Homo sapiens]
GI:158508572 GenBank EAX05008.1 984 nuclear receptor subfamily 3, group C, member 2 [Homo sapiens]
GI:158508572 pat WO 984 Sequence 10 from Patent WO 8803168
GI:260656020 RefSeq XP_002917012.1 867 PREDICTED: mineralocorticoid receptor-like isoform 2 [Ailuropoda melanoleuca]
GI:260656020 RefSeq XP_003790255.1 867 PREDICTED: mineralocorticoid receptor [Otolemur garnettii]
GI:260656020 RefSeq XP_004404811.1 867 PREDICTED: mineralocorticoid receptor-like isoform 2 [Odobenus rosmarus divergens]
GI:260656020 RefSeq XP_004420959.1 869 PREDICTED: mineralocorticoid receptor isoform 2 [Ceratotherium simum simum]
GI:260656020 RefSeq XP_005556103.1 867 PREDICTED: mineralocorticoid receptor isoform X5 [Macaca fascicularis]
GI:158508572 SwissProt P08235.1 984 RecName: Full=Mineralocorticoid receptor; Short=MR; AltName: Full=Nuclear receptor subfamily 3 group C member 2 [Homo sapiens]