NR3C2

Functionⁱ

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.1 Publication

Sites

Feature key	Position(s)	DescriptionActions	Length
Binding siteⁱ	770	Steroid	1
Binding siteⁱ	776	Steroid	1
Binding siteⁱ	817	Steroid	1
Binding siteⁱ	945	Steroid	1

Regions

Feature key	Position(s)	DescriptionActions	Length
DNA bindingⁱ	603 – 668	Nuclear receptorPROSITE-ProRule annotationAdd BLAST	66
Zinc fingerⁱ	603 – 623	NR C4-typePROSITE-ProRule annotationAdd BLAST	21
Zinc fingerⁱ	639 – 663	NR C4-typePROSITE-ProRule annotationAdd BLAST	25

GO - Molecular functionⁱ

DNA-binding transcription factor activity
Source: ProtInc
Traceable author statementⁱ
- 3037703
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
sequence-specific DNA binding Source: InterPro
steroid binding Source: UniProtKB-KW
steroid hormone receptor activity
Source: ProtInc
Traceable author statementⁱ
- 9662404
zinc ion binding Source: InterPro

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

signal transduction
Source: ProtInc
Traceable author statementⁱ
- 3037703
transcription initiation from RNA polymerase II promoter Source: Reactome

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	DNA-binding, Receptor
Biological process	Transcription, Transcription regulation
Ligand	Lipid-binding, Metal-binding, Steroid-binding, Zinc

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3371497 HSP90 chaperone cycle for steroid hormone receptors (SHR) R-HSA-383280 Nuclear Receptor transcription pathway R-HSA-4090294 SUMOylation of intracellular receptors
SignaLinkⁱ	P08235
SIGNORⁱ	P08235

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Mineralocorticoid receptor Short name: MR Alternative name(s): Nuclear receptor subfamily 3 group C member 2
Gene namesⁱ	Name:NR3C2 Synonyms:MCR, MLR
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 4

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000151623.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:7979 NR3C2
MIMⁱ	600983 gene
neXtProtⁱ	NX_P08235

Keywords - Cellular componentⁱ

Cytoplasm, Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Pseudohypoaldosteronism 1, autosomal dominant (PHA1A)4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_031268	633	G → R in PHA1A; reduces transcription transactivation upon aldosterone binding. 1 Publication	1
Natural variantⁱVAR_031269	645	C → S in PHA1A. 1 Publication	1
Natural variantⁱVAR_031270	659	R → S in PHA1A. 1 Publication	1
Natural variantⁱVAR_031271	759	P → S in PHA1A. 1 Publication	1
Natural variantⁱVAR_031272	769	L → P in PHA1A. 1 Publication	1
Natural variantⁱVAR_031273	770	N → K in PHA1A. 1 Publication	1
Natural variantⁱVAR_031274	776	Q → R in PHA1A; reduces aldosterone binding. 1 Publication	1
Natural variantⁱVAR_031275	805	S → P in PHA1A. 1 Publication	1
Natural variantⁱVAR_031276	815	S → R in PHA1A. 1 Publication	1
Natural variantⁱVAR_031277	818	S → L in PHA1A; abolishes translocation to the nucleus and transcription transactivation upon aldosterone binding. 1 Publication	1
Natural variantⁱVAR_015627	924	L → P in PHA1A; abolishes transcription transactivation upon aldosterone binding. 2 Publications	1
Natural variantⁱVAR_031278	972	E → G in PHA1A; reduces affinity for aldosterone and transcription transactivation. 1 Publication	1
Natural variantⁱVAR_031279	979	L → P in PHA1A; loss of aldosterone binding and transcription transactivation. 1 Publication	1

Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionInheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_015626	810	S → L in EOHSEP; alters receptor specificity and leads to constitutive activation. 3 PublicationsCorresponds to variant dbSNP:rs41511344EnsemblClinVar.		1

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	767	S → N: Loss of transcription transactivation. 1 Publication	1
Mutagenesisⁱ	767	S → Q: Strong decrease of transcription transactivation. 1 Publication	1
Mutagenesisⁱ	770	N → A, D, H, Q, S or T: Abolishes aldosterone binding and transcription transactivation. 2 Publications	1
Mutagenesisⁱ	776	Q → A: Reduces aldosterone binding and transcription transactivation. 2 Publications	1
Mutagenesisⁱ	782	K → E: Decreased coactivator binding. 1 Publication	1
Mutagenesisⁱ	785	K → E: Loss of coactivator binding. 1 Publication	1
Mutagenesisⁱ	796	E → R: Decreased coactivator binding. 1 Publication	1
Mutagenesisⁱ	808	C → S: Increases aldosterone-binding. 1 Publication	1
Mutagenesisⁱ	810	S → M: Alters receptor specificity. 1 Publication	1
Mutagenesisⁱ	817	R → A: Reduces aldosterone binding and transcription transactivation. 2 Publications	1
Mutagenesisⁱ	849	C → S: Strongly decreases affinity for aldosterone and transcription transactivation. 1 Publication	1
Mutagenesisⁱ	942	C → S: Abolishes steroid binding and transcription transactivation. 1 Publication	1
Mutagenesisⁱ	945	T → A: Decreases aldosterone-binding and cortisol-binding. 2 Publications	1
Mutagenesisⁱ	952	L → A: Reduces transcription transactivation. 1 Publication	1
Mutagenesisⁱ	953	K → A: Slightly reduces aldosterone binding and abolishes transcription transactivation. 1 Publication	1
Mutagenesisⁱ	954	V → A: Reduces aldosterone binding and abolishes transcription transactivation. 1 Publication	1
Mutagenesisⁱ	956	F → A: Abolishes aldosterone binding and transcription transactivation. 1 Publication	1
Mutagenesisⁱ	957	P → A: Slightly reduces aldosterone binding and transcription transactivation. 1 Publication	1

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	4306
MalaCards human disease database More...MalaCardsⁱ	NR3C2
MIMⁱ	177735 phenotype 605115 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000151623
Orphanetⁱ	88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor 171871 Renal pseudohypoaldosteronism type 1
PharmGKBⁱ	PA242

Chemistry databases

ChEMBLⁱ	CHEMBL1994
Drug and drug target database More...DrugBankⁱ	DB04630 Aldosterone DB01134 Desoxycorticosterone Pivalate DB01395 Drospirenone DB00700 Eplerenone DB01023 Felodipine DB00687 Fludrocortisone DB00588 Fluticasone Propionate DB00393 Nimodipine DB00396 Progesterone DB00421 Spironolactone
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	626

Polymorphism and mutation databases

BioMutaⁱ	NR3C2
DMDMⁱ	126885

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000053682	1 – 984	Mineralocorticoid receptorAdd BLAST		984

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	250	PhosphoserineBy similarity	1
Modified residueⁱ	259	PhosphoserineBy similarity	1
Modified residueⁱ	283	PhosphoserineBy similarity	1
Modified residueⁱ	287	PhosphoserineBy similarity	1
Modified residueⁱ	299	PhosphoserineBy similarity	1

Post-translational modificationⁱ

Phosphorylated.1 Publication

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P08235
PaxDbⁱ	P08235
PeptideAtlas More...PeptideAtlasⁱ	P08235
PRIDEⁱ	P08235
ProteomicsDBⁱ	52088 52089 [P08235-2] 52090 [P08235-3] 52091 [P08235-4]

PTM databases

iPTMnetⁱ	P08235
PhosphoSitePlusⁱ	P08235

Expressionⁱ

Tissue specificityⁱ

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.2 Publications

Gene expression databases

Bgeeⁱ	ENSG00000151623 Expressed in 221 organ(s), highest expression level in colonic mucosa
CleanExⁱ	HS_NR3C2
ExpressionAtlasⁱ	P08235 baseline and differential

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB009155 HPA074979

HPAⁱ

CAB009155
HPA074979

Interactionⁱ

Subunit structureⁱ

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 NRIP1.4 Publications

Protein-protein interaction databases

BioGridⁱ	110451, 30 interactors
CORUMⁱ	P08235
IntActⁱ	P08235, 5 interactors
STRINGⁱ	9606.ENSP00000341390

Chemistry databases

BindingDBⁱ

P08235

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Turnⁱ	604 – 606	Combined sources	3
Beta strandⁱ	612 – 614	Combined sources	3
Helixⁱ	621 – 632	Combined sources	12
Beta strandⁱ	640 – 643	Combined sources	4
Turnⁱ	649 – 654	Combined sources	6
Helixⁱ	656 – 665	Combined sources	10
Helixⁱ	728 – 733	Combined sources	6
Helixⁱ	738 – 745	Combined sources	8
Helixⁱ	762 – 785	Combined sources	24
Helixⁱ	790 – 792	Combined sources	3
Helixⁱ	795 – 822	Combined sources	28
Beta strandⁱ	825 – 830	Combined sources	6
Beta strandⁱ	833 – 835	Combined sources	3
Helixⁱ	837 – 842	Combined sources	6
Helixⁱ	846 – 862	Combined sources	17
Helixⁱ	866 – 877	Combined sources	12
Beta strandⁱ	879 – 881	Combined sources	3
Helixⁱ	889 – 909	Combined sources	21
Helixⁱ	911 – 913	Combined sources	3
Turnⁱ	914 – 916	Combined sources	3
Helixⁱ	917 – 947	Combined sources	31
Helixⁱ	949 – 952	Combined sources	4
Helixⁱ	958 – 972	Combined sources	15
Beta strandⁱ	976 – 978	Combined sources	3

Show more details

3D structure databases

ProteinModelPortalⁱ	P08235
SMRⁱ	P08235
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P08235

EvolutionaryTraceⁱ

P08235

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	726 – 964	NR LBDPROSITE-ProRule annotationAdd BLAST		239

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	1 – 602	ModulatingAdd BLAST	602
Regionⁱ	669 – 725	HingeAdd BLAST	57
Regionⁱ	782 – 785	Important for coactivator binding	4

Domainⁱ

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

Sequence similaritiesⁱ

Belongs to the nuclear hormone receptor family. NR3 subfamily.Curated

Zinc finger

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Zinc fingerⁱ	603 – 623	NR C4-typePROSITE-ProRule annotationAdd BLAST		21
Zinc fingerⁱ	639 – 663	NR C4-typePROSITE-ProRule annotationAdd BLAST		25

Keywords - Domainⁱ

Zinc-finger

Phylogenomic databases

eggNOGⁱ	KOG3575 Eukaryota ENOG410XRZC LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118887
HOGENOMⁱ	HOG000247011
HOVERGENⁱ	HBG006336
InParanoidⁱ	P08235
KEGG Orthology (KO) More...KOⁱ	K08555
PhylomeDBⁱ	P08235

Family and domain databases

Gene3Dⁱ	3.30.50.10, 1 hit
InterProⁱ	View protein in InterPro IPR035500 NHR_like_dom_sf IPR000536 Nucl_hrmn_rcpt_lig-bd IPR001628 Znf_hrmn_rcpt IPR013088 Znf_NHR/GATA
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00104 Hormone_recep, 1 hit PF00105 zf-C4, 1 hit
PRINTSⁱ	PR00047 STROIDFINGER
SMARTⁱ	View protein in SMART SM00430 HOLI, 1 hit SM00399 ZnF_C4, 1 hit
SUPFAMⁱ	SSF48508 SSF48508, 1 hit
PROSITEⁱ	View protein in PROSITE PS51843 NR_LBD, 1 hit PS00031 NUCLEAR_REC_DBD_1, 1 hit PS51030 NUCLEAR_REC_DBD_2, 1 hit

Sequences (4+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 4 isoformsⁱ produced by alternative splicing. Align Add to basket

Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: P08235-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
METKGYHSLP EGLDMERRWG QVSQAVERSS LGPTERTDEN NYMEIVNVSC 
        60         70         80         90        100
VSGAIPNNST QGSSKEKQEL LPCLQQDNNR PGILTSDIKT ELESKELSAT 
       110        120        130        140        150
VAESMGLYMD SVRDADYSYE QQNQQGSMSP AKIYQNVEQL VKFYKGNGHR 
       160        170        180        190        200
PSTLSCVNTP LRSFMSDSGS SVNGGVMRAV VKSPIMCHEK SPSVCSPLNM 
       210        220        230        240        250
TSSVCSPAGI NSVSSTTASF GSFPVHSPIT QGTPLTCSPN VENRGSRSHS 
       260        270        280        290        300
PAHASNVGSP LSSPLSSMKS SISSPPSHCS VKSPVSSPNN VTLRSSVSSP 
       310        320        330        340        350
ANINNSRCSV SSPSNTNNRS TLSSPAASTV GSICSPVNNA FSYTASGTSA 
       360        370        380        390        400
GSSTLRDVVP SPDTQEKGAQ EVPFPKTEEV ESAISNGVTG QLNIVQYIKP 
       410        420        430        440        450
EPDGAFSSSC LGGNSKINSD SSFSVPIKQE STKHSCSGTS FKGNPTVNPF 
       460        470        480        490        500
PFMDGSYFSF MDDKDYYSLS GILGPPVPGF DGNCEGSGFP VGIKQEPDDG 
       510        520        530        540        550
SYYPEASIPS SAIVGVNSGG QSFHYRIGAQ GTISLSRSAR DQSFQHLSSF 
       560        570        580        590        600
PPVNTLVESW KSHGDLSSRR SDGYPVLEYI PENVSSSTLR SVSTGSSRPS 
       610        620        630        640        650
KICLVCGDEA SGCHYGVVTC GSCKVFFKRA VEGQHNYLCA GRNDCIIDKI 
       660        670        680        690        700
RRKNCPACRL QKCLQAGMNL GARKSKKLGK LKGIHEEQPQ QQQPPPPPPP 
       710        720        730        740        750
PQSPEEGTTY IAPAKEPSVN TALVPQLSTI SRALTPSPVM VLENIEPEIV 
       760        770        780        790        800
YAGYDSSKPD TAENLLSTLN RLAGKQMIQV VKWAKVLPGF KNLPLEDQIT 
       810        820        830        840        850
LIQYSWMCLS SFALSWRSYK HTNSQFLYFA PDLVFNEEKM HQSAMYELCQ 
       860        870        880        890        900
GMHQISLQFV RLQLTFEEYT IMKVLLLLST IPKDGLKSQA AFEEMRTNYI 
       910        920        930        940        950
KELRKMVTKC PNNSGQSWQR FYQLTKLLDS MHDLVSDLLE FCFYTFRESH 
       960        970        980 
ALKVEFPAML VEIISDQLPK VESGNAKPLY FHRK

Length:984

Mass (Da):107,082

Last modified:September 12, 2018 - v2

Checksum:ⁱ833D900F2CB27390

GO

Isoform 2 (identifier: P08235-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
672-706: ARKSKKLGKLKGIHEEQPQQQQPPPPPPPPQSPEE → ERRCISLPCMNYARGCTKSAFSSFDCSSPLKNTPS
707-984: Missing.

« Hide

        10         20         30         40         50
METKGYHSLP EGLDMERRWG QVSQAVERSS LGPTERTDEN NYMEIVNVSC 
        60         70         80         90        100
VSGAIPNNST QGSSKEKQEL LPCLQQDNNR PGILTSDIKT ELESKELSAT 
       110        120        130        140        150
VAESMGLYMD SVRDADYSYE QQNQQGSMSP AKIYQNVEQL VKFYKGNGHR 
       160        170        180        190        200
PSTLSCVNTP LRSFMSDSGS SVNGGVMRAV VKSPIMCHEK SPSVCSPLNM 
       210        220        230        240        250
TSSVCSPAGI NSVSSTTASF GSFPVHSPIT QGTPLTCSPN VENRGSRSHS 
       260        270        280        290        300
PAHASNVGSP LSSPLSSMKS SISSPPSHCS VKSPVSSPNN VTLRSSVSSP 
       310        320        330        340        350
ANINNSRCSV SSPSNTNNRS TLSSPAASTV GSICSPVNNA FSYTASGTSA 
       360        370        380        390        400
GSSTLRDVVP SPDTQEKGAQ EVPFPKTEEV ESAISNGVTG QLNIVQYIKP 
       410        420        430        440        450
EPDGAFSSSC LGGNSKINSD SSFSVPIKQE STKHSCSGTS FKGNPTVNPF 
       460        470        480        490        500
PFMDGSYFSF MDDKDYYSLS GILGPPVPGF DGNCEGSGFP VGIKQEPDDG 
       510        520        530        540        550
SYYPEASIPS SAIVGVNSGG QSFHYRIGAQ GTISLSRSAR DQSFQHLSSF 
       560        570        580        590        600
PPVNTLVESW KSHGDLSSRR SDGYPVLEYI PENVSSSTLR SVSTGSSRPS 
       610        620        630        640        650
KICLVCGDEA SGCHYGVVTC GSCKVFFKRA VEGQHNYLCA GRNDCIIDKI 
       660        670        680        690        700
RRKNCPACRL QKCLQAGMNL GERRCISLPC MNYARGCTKS AFSSFDCSSP 

LKNTPS

Note: Lacks steroid-binding activity and acts as ligand-independent transactivator.

Show »

Length:706

Mass (Da):75,066

Checksum:ⁱ03CF63D0ACEE981C

GO

Isoform 3 (identifier: P08235-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
633-633: G → GKCSW

« Hide

        10         20         30         40         50
METKGYHSLP EGLDMERRWG QVSQAVERSS LGPTERTDEN NYMEIVNVSC 
        60         70         80         90        100
VSGAIPNNST QGSSKEKQEL LPCLQQDNNR PGILTSDIKT ELESKELSAT 
       110        120        130        140        150
VAESMGLYMD SVRDADYSYE QQNQQGSMSP AKIYQNVEQL VKFYKGNGHR 
       160        170        180        190        200
PSTLSCVNTP LRSFMSDSGS SVNGGVMRAV VKSPIMCHEK SPSVCSPLNM 
       210        220        230        240        250
TSSVCSPAGI NSVSSTTASF GSFPVHSPIT QGTPLTCSPN VENRGSRSHS 
       260        270        280        290        300
PAHASNVGSP LSSPLSSMKS SISSPPSHCS VKSPVSSPNN VTLRSSVSSP 
       310        320        330        340        350
ANINNSRCSV SSPSNTNNRS TLSSPAASTV GSICSPVNNA FSYTASGTSA 
       360        370        380        390        400
GSSTLRDVVP SPDTQEKGAQ EVPFPKTEEV ESAISNGVTG QLNIVQYIKP 
       410        420        430        440        450
EPDGAFSSSC LGGNSKINSD SSFSVPIKQE STKHSCSGTS FKGNPTVNPF 
       460        470        480        490        500
PFMDGSYFSF MDDKDYYSLS GILGPPVPGF DGNCEGSGFP VGIKQEPDDG 
       510        520        530        540        550
SYYPEASIPS SAIVGVNSGG QSFHYRIGAQ GTISLSRSAR DQSFQHLSSF 
       560        570        580        590        600
PPVNTLVESW KSHGDLSSRR SDGYPVLEYI PENVSSSTLR SVSTGSSRPS 
       610        620        630        640        650
KICLVCGDEA SGCHYGVVTC GSCKVFFKRA VEGKCSWQHN YLCAGRNDCI 
       660        670        680        690        700
IDKIRRKNCP ACRLQKCLQA GMNLGARKSK KLGKLKGIHE EQPQQQQPPP 
       710        720        730        740        750
PPPPPQSPEE GTTYIAPAKE PSVNTALVPQ LSTISRALTP SPVMVLENIE 
       760        770        780        790        800
PEIVYAGYDS SKPDTAENLL STLNRLAGKQ MIQVVKWAKV LPGFKNLPLE 
       810        820        830        840        850
DQITLIQYSW MCLSSFALSW RSYKHTNSQF LYFAPDLVFN EEKMHQSAMY 
       860        870        880        890        900
ELCQGMHQIS LQFVRLQLTF EEYTIMKVLL LLSTIPKDGL KSQAAFEEMR 
       910        920        930        940        950
TNYIKELRKM VTKCPNNSGQ SWQRFYQLTK LLDSMHDLVS DLLEFCFYTF 
       960        970        980 
RESHALKVEF PAMLVEIISD QLPKVESGNA KPLYFHRK

Show »

Length:988

Mass (Da):107,586

Checksum:ⁱFDA63FAC05757193

GO

Isoform 4 (identifier: P08235-4) [UniParc]FASTA Add to basket

Also known as: Delta

The sequence of this isoform differs from the canonical sequence as follows:
672-788: Missing.

« Hide

        10         20         30         40         50
METKGYHSLP EGLDMERRWG QVSQAVERSS LGPTERTDEN NYMEIVNVSC 
        60         70         80         90        100
VSGAIPNNST QGSSKEKQEL LPCLQQDNNR PGILTSDIKT ELESKELSAT 
       110        120        130        140        150
VAESMGLYMD SVRDADYSYE QQNQQGSMSP AKIYQNVEQL VKFYKGNGHR 
       160        170        180        190        200
PSTLSCVNTP LRSFMSDSGS SVNGGVMRAV VKSPIMCHEK SPSVCSPLNM 
       210        220        230        240        250
TSSVCSPAGI NSVSSTTASF GSFPVHSPIT QGTPLTCSPN VENRGSRSHS 
       260        270        280        290        300
PAHASNVGSP LSSPLSSMKS SISSPPSHCS VKSPVSSPNN VTLRSSVSSP 
       310        320        330        340        350
ANINNSRCSV SSPSNTNNRS TLSSPAASTV GSICSPVNNA FSYTASGTSA 
       360        370        380        390        400
GSSTLRDVVP SPDTQEKGAQ EVPFPKTEEV ESAISNGVTG QLNIVQYIKP 
       410        420        430        440        450
EPDGAFSSSC LGGNSKINSD SSFSVPIKQE STKHSCSGTS FKGNPTVNPF 
       460        470        480        490        500
PFMDGSYFSF MDDKDYYSLS GILGPPVPGF DGNCEGSGFP VGIKQEPDDG 
       510        520        530        540        550
SYYPEASIPS SAIVGVNSGG QSFHYRIGAQ GTISLSRSAR DQSFQHLSSF 
       560        570        580        590        600
PPVNTLVESW KSHGDLSSRR SDGYPVLEYI PENVSSSTLR SVSTGSSRPS 
       610        620        630        640        650
KICLVCGDEA SGCHYGVVTC GSCKVFFKRA VEGQHNYLCA GRNDCIIDKI 
       660        670        680        690        700
RRKNCPACRL QKCLQAGMNL GGFKNLPLED QITLIQYSWM CLSSFALSWR 
       710        720        730        740        750
SYKHTNSQFL YFAPDLVFNE EKMHQSAMYE LCQGMHQISL QFVRLQLTFE 
       760        770        780        790        800
EYTIMKVLLL LSTIPKDGLK SQAAFEEMRT NYIKELRKMV TKCPNNSGQS 
       810        820        830        840        850
WQRFYQLTKL LDSMHDLVSD LLEFCFYTFR ESHALKVEFP AMLVEIISDQ 
       860 
LPKVESGNAK PLYFHRK

Show »

Length:867

Mass (Da):94,373

Checksum:ⁱ0F5055BFD6337578

GO

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

B0ZBF6	B0ZBF6_HUMAN	Mineralocorticoid receptor Mineralocorticoid receptor (Nuclear receptor subfamily 3, group C, member 2 variant 1)	NR3C2	984	Annotation score:
A0A0D9SFL9	A0A0D9SFL9_HUMAN	Mineralocorticoid receptor Mineralocorticoid receptor	NR3C2	988	Annotation score:
B0ZBF8	B0ZBF8_HUMAN	Mineralocorticoid receptor Mineralocorticoid receptor (Mineralocorticoid receptor 3) (Nuclear receptor subfamily 3, group C, member 2 variant 4)	NR3C2	706	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	946	F → I in AAI11759 (PubMed:15489334).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_036063	7	H → Q in a colorectal cancer sample; somatic mutation. 1 Publication	1
Natural variantⁱVAR_014623	180	V → I Common polymorphism; decreased mineralocorticoid receptor activity. 3 PublicationsCorresponds to variant dbSNP:rs5522EnsemblClinVar.	1
Natural variantⁱVAR_015625	241	V → A Polymorphism; changed mineralocorticoid receptor activity; changed response curve to aldosterone stimulation. 2 Publications	1
Natural variantⁱVAR_014624	444	N → T1 PublicationCorresponds to variant dbSNP:rs5523Ensembl.	1
Natural variantⁱVAR_014625	537	R → Q1 PublicationCorresponds to variant dbSNP:rs5526Ensembl.	1
Natural variantⁱVAR_014626	554	N → S1 PublicationCorresponds to variant dbSNP:rs5527EnsemblClinVar.	1
Natural variantⁱVAR_031268	633	G → R in PHA1A; reduces transcription transactivation upon aldosterone binding. 1 Publication	1
Natural variantⁱVAR_031269	645	C → S in PHA1A. 1 Publication	1
Natural variantⁱVAR_031270	659	R → S in PHA1A. 1 Publication	1
Natural variantⁱVAR_031271	759	P → S in PHA1A. 1 Publication	1
Natural variantⁱVAR_031272	769	L → P in PHA1A. 1 Publication	1
Natural variantⁱVAR_031273	770	N → K in PHA1A. 1 Publication	1
Natural variantⁱVAR_031274	776	Q → R in PHA1A; reduces aldosterone binding. 1 Publication	1
Natural variantⁱVAR_031275	805	S → P in PHA1A. 1 Publication	1
Natural variantⁱVAR_015626	810	S → L in EOHSEP; alters receptor specificity and leads to constitutive activation. 3 PublicationsCorresponds to variant dbSNP:rs41511344EnsemblClinVar.	1
Natural variantⁱVAR_031276	815	S → R in PHA1A. 1 Publication	1
Natural variantⁱVAR_031277	818	S → L in PHA1A; abolishes translocation to the nucleus and transcription transactivation upon aldosterone binding. 1 Publication	1
Natural variantⁱVAR_029311	826	F → Y. Corresponds to variant dbSNP:rs13306592Ensembl.	1
Natural variantⁱVAR_015627	924	L → P in PHA1A; abolishes transcription transactivation upon aldosterone binding. 2 Publications	1
Natural variantⁱVAR_031278	972	E → G in PHA1A; reduces affinity for aldosterone and transcription transactivation. 1 Publication	1
Natural variantⁱVAR_031279	979	L → P in PHA1A; loss of aldosterone binding and transcription transactivation. 1 Publication	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_007357	633	G → GKCSW in isoform 3. Curated	1
Alternative sequenceⁱVSP_007360	672 – 788	Missing in isoform 4. 2 PublicationsAdd BLAST	117
Alternative sequenceⁱVSP_007358	672 – 706	ARKSK…QSPEE → ERRCISLPCMNYARGCTKSA FSSFDCSSPLKNTPS in isoform 2. 1 PublicationAdd BLAST	35
Alternative sequenceⁱVSP_007359	707 – 984	Missing in isoform 2. 1 PublicationAdd BLAST	278

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M16801 mRNA Translation: AAA59571.1 AJ315514 mRNA Translation: CAC67405.1 AJ315515 mRNA Translation: CAC67406.1 EU326312 Genomic DNA Translation: ACA05924.1 EU326312 Genomic DNA Translation: ACA05925.1 FJ515829 Genomic DNA Translation: ACS13716.1 FJ515829 Genomic DNA Translation: ACS13717.1 AC069272 Genomic DNA No translation available. AC093678 Genomic DNA No translation available. AC093881 Genomic DNA No translation available. AC104691 Genomic DNA No translation available. AC106899 Genomic DNA No translation available. BC111758 mRNA Translation: AAI11759.1 AH006913 Genomic DNA Translation: AAC63513.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS3772.1 [P08235-1] CCDS54811.1 [P08235-4]
PIRⁱ	A29513
NCBI Reference Sequences More...RefSeqⁱ	NP_000892.2, NM_000901.4 [P08235-1] NP_001159576.1, NM_001166104.1 [P08235-4] XP_011530277.1, XM_011531975.1 [P08235-3] XP_011530278.1, XM_011531976.2 XP_011530279.1, XM_011531977.2 XP_016863706.1, XM_017008217.1
UniGeneⁱ	Hs.163924

Genome annotation databases

Ensemblⁱ	ENST00000342437; ENSP00000343907; ENSG00000151623 [P08235-2] ENST00000344721; ENSP00000341390; ENSG00000151623 [P08235-1] ENST00000358102; ENSP00000350815; ENSG00000151623 [P08235-1] ENST00000511528; ENSP00000421481; ENSG00000151623 [P08235-3] ENST00000512865; ENSP00000423510; ENSG00000151623 [P08235-4] ENST00000625323; ENSP00000486719; ENSG00000151623 [P08235-3]
GeneIDⁱ	4306
KEGGⁱ	hsa:4306
UCSC genome browser More...UCSCⁱ	uc003ilk.5 human [P08235-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins	Species	Length	Source
P08235	Mineralocorticoid receptor	HUMAN	984	UniRef100_P08235
P08235-2	Mineralocorticoid receptor	HUMAN	706	UniRef100_B0ZBF8
P08235-3	Mineralocorticoid receptor	HUMAN	988	UniRef100_A0A0D9SFL9

Protein	Similar proteins		Species	Score	Length	Source
P08235	Mineralocorticoid receptor		AOTNA		984	UniRef90_P08235
Mineralocorticoid receptor		SAIBB		982
Mineralocorticoid receptor		SAISC		982
Mineralocorticoid receptor		RAT		981
Mineralocorticoid receptor		MOUSE		978
+70
P08235-2	Mineralocorticoid receptor		MOUSE		867	UniRef90_D3Z473
Uncharacterized protein		ICTTR		867
Uncharacterized protein		CAVPO		865
Uncharacterized protein		MACMU		706
Uncharacterized protein		MACFA		706
+8
P08235-3	Mineralocorticoid receptor		HUMAN		988	UniRef90_A0A0D9SFL9
Uncharacterized protein		CAVPO		1010
Uncharacterized protein		MANLE		988
NR3C2 isoform 2		PANTR		988
Uncharacterized protein		PANPA		937
+83
P08235-4	NR3C2 isoform 4		PANTR		867	UniRef90_P08235-4
Uncharacterized protein		PANPA		816
Uncharacterized protein		PROCO		867
Uncharacterized protein		MACMU		867
Uncharacterized protein		COLAP		867
+20

Protein	Similar proteins		Species	Score	Length	Source
P08235	Mineralocorticoid receptor		AOTNA		984	UniRef50_P08235
Mineralocorticoid receptor		SAISC		982
Mineralocorticoid receptor		SAIBB		982
Mineralocorticoid receptor		RAT		981
Mineralocorticoid receptor		MOUSE		978
+285

Cross-referencesⁱ

Web resourcesⁱ

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Wikipedia

Mineralocorticoid receptor entry

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M16801 mRNA Translation: AAA59571.1 AJ315514 mRNA Translation: CAC67405.1 AJ315515 mRNA Translation: CAC67406.1 EU326312 Genomic DNA Translation: ACA05924.1 EU326312 Genomic DNA Translation: ACA05925.1 FJ515829 Genomic DNA Translation: ACS13716.1 FJ515829 Genomic DNA Translation: ACS13717.1 AC069272 Genomic DNA No translation available. AC093678 Genomic DNA No translation available. AC093881 Genomic DNA No translation available. AC104691 Genomic DNA No translation available. AC106899 Genomic DNA No translation available. BC111758 mRNA Translation: AAI11759.1 AH006913 Genomic DNA Translation: AAC63513.1
CCDSⁱ	CCDS3772.1 [P08235-1] CCDS54811.1 [P08235-4]
PIRⁱ	A29513
RefSeqⁱ	NP_000892.2, NM_000901.4 [P08235-1] NP_001159576.1, NM_001166104.1 [P08235-4] XP_011530277.1, XM_011531975.1 [P08235-3] XP_011530278.1, XM_011531976.2 XP_011530279.1, XM_011531977.2 XP_016863706.1, XM_017008217.1
UniGeneⁱ	Hs.163924

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	1Y9R	X-ray	1.96	A/B	731-984	[»]
	1YA3	X-ray	2.34	A/B/C	731-984	[»]
	2A3I	X-ray	1.95	A	732-984	[»]
	2AA2	X-ray	1.95	A	712-984	[»]
	2AA5	X-ray	2.20	A/B	712-984	[»]
	2AA6	X-ray	1.95	A/B	712-984	[»]
	2AA7	X-ray	2.20	A	712-984	[»]
	2AAX	X-ray	1.75	A/B	712-984	[»]
	2AB2	X-ray	1.85	A/B	712-984	[»]
	2ABI	X-ray	2.33	A/B/C	731-984	[»]
	2OAX	X-ray	2.29	A/B/C/D/E/F	731-984	[»]
	3VHU	X-ray	2.11	A	712-984	[»]
	3VHV	X-ray	1.35	A	727-984	[»]
	3WFF	X-ray	2.05	A	712-984	[»]
	3WFG	X-ray	1.40	A	712-984	[»]
	4PF3	X-ray	1.10	A	712-984	[»]
	4TNT	X-ray	2.39	A/B	593-671	[»]
	4UDA	X-ray	2.03	A	735-984	[»]
	4UDB	X-ray	2.36	A	735-984	[»]
	5HCV	X-ray	2.50	A/B/C	732-984	[»]
	5L7E	X-ray	1.86	A	735-984	[»]
	5L7G	X-ray	2.01	A	735-984	[»]
	5L7H	X-ray	1.84	A	735-984	[»]
	5MWP	X-ray	1.82	A	735-984	[»]
	5MWY	X-ray	1.75	A	735-984	[»]
ProteinModelPortalⁱ	P08235
SMRⁱ	P08235
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	110451, 30 interactors
CORUMⁱ	P08235
IntActⁱ	P08235, 5 interactors
STRINGⁱ	9606.ENSP00000341390

Chemistry databases

BindingDBⁱ	P08235
ChEMBLⁱ	CHEMBL1994
DrugBankⁱ	DB04630 Aldosterone DB01134 Desoxycorticosterone Pivalate DB01395 Drospirenone DB00700 Eplerenone DB01023 Felodipine DB00687 Fludrocortisone DB00588 Fluticasone Propionate DB00393 Nimodipine DB00396 Progesterone DB00421 Spironolactone
GuidetoPHARMACOLOGYⁱ	626

PTM databases

iPTMnetⁱ	P08235
PhosphoSitePlusⁱ	P08235

Polymorphism and mutation databases

BioMutaⁱ	NR3C2
DMDMⁱ	126885

Proteomic databases

MaxQBⁱ	P08235
PaxDbⁱ	P08235
PeptideAtlasⁱ	P08235
PRIDEⁱ	P08235
ProteomicsDBⁱ	52088 52089 [P08235-2] 52090 [P08235-3] 52091 [P08235-4]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000342437; ENSP00000343907; ENSG00000151623 [P08235-2] ENST00000344721; ENSP00000341390; ENSG00000151623 [P08235-1] ENST00000358102; ENSP00000350815; ENSG00000151623 [P08235-1] ENST00000511528; ENSP00000421481; ENSG00000151623 [P08235-3] ENST00000512865; ENSP00000423510; ENSG00000151623 [P08235-4] ENST00000625323; ENSP00000486719; ENSG00000151623 [P08235-3]
GeneIDⁱ	4306
KEGGⁱ	hsa:4306
UCSCⁱ	uc003ilk.5 human [P08235-1]

Organism-specific databases

CTDⁱ	4306
DisGeNETⁱ	4306
EuPathDBⁱ	HostDB:ENSG00000151623.14
GeneCardsⁱ	NR3C2
H-InvDBⁱ	HIX0024570
HGNCⁱ	HGNC:7979 NR3C2
HPAⁱ	CAB009155 HPA074979
MalaCardsⁱ	NR3C2
MIMⁱ	177735 phenotype 600983 gene 605115 phenotype
neXtProtⁱ	NX_P08235
OpenTargetsⁱ	ENSG00000151623
Orphanetⁱ	88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor 171871 Renal pseudohypoaldosteronism type 1
PharmGKBⁱ	PA242
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3575 Eukaryota ENOG410XRZC LUCA
GeneTreeⁱ	ENSGT00760000118887
HOGENOMⁱ	HOG000247011
HOVERGENⁱ	HBG006336
InParanoidⁱ	P08235
KOⁱ	K08555
PhylomeDBⁱ	P08235

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3371497 HSP90 chaperone cycle for steroid hormone receptors (SHR) R-HSA-383280 Nuclear Receptor transcription pathway R-HSA-4090294 SUMOylation of intracellular receptors
SignaLinkⁱ	P08235
SIGNORⁱ	P08235

Miscellaneous databases

ChiTaRSⁱ	NR3C2 human
EvolutionaryTraceⁱ	P08235
GeneWikiⁱ	Mineralocorticoid_receptor
GenomeRNAiⁱ	4306
Protein Ontology More...PROⁱ	PR:P08235
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000151623 Expressed in 221 organ(s), highest expression level in colonic mucosa
CleanExⁱ	HS_NR3C2
ExpressionAtlasⁱ	P08235 baseline and differential

Family and domain databases

Gene3Dⁱ	3.30.50.10, 1 hit
InterProⁱ	View protein in InterPro IPR035500 NHR_like_dom_sf IPR000536 Nucl_hrmn_rcpt_lig-bd IPR001628 Znf_hrmn_rcpt IPR013088 Znf_NHR/GATA
Pfamⁱ	View protein in Pfam PF00104 Hormone_recep, 1 hit PF00105 zf-C4, 1 hit
PRINTSⁱ	PR00047 STROIDFINGER
SMARTⁱ	View protein in SMART SM00430 HOLI, 1 hit SM00399 ZnF_C4, 1 hit
SUPFAMⁱ	SSF48508 SSF48508, 1 hit
PROSITEⁱ	View protein in PROSITE PS51843 NR_LBD, 1 hit PS00031 NUCLEAR_REC_DBD_1, 1 hit PS51030 NUCLEAR_REC_DBD_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	MCR_HUMAN
Accessionⁱ	P08235Primary (citable) accession number: P08235 Secondary accession number(s): B0ZBF5 , B0ZBF7, Q2NKL1, Q96KQ8, Q96KQ9
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	August 1, 1988
	Last sequence update:	September 12, 2018
	Last modified:	November 7, 2018
	This is version 211 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

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UniProtKB - P08235 (MCR_HUMAN)

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Mineralocorticoid receptor

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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Keywords - Coding sequence diversityi

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Keywords - Cellular componentⁱ

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Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

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