NR3C2
entrez
4306
canonical
uniprot
P08235
canonical
ensembl
ENSG00000151623
resolver
ensp
ENSP00000341390
resolver
ensp
ENSP00000350815
resolver
ensp
ENSP00000423510
resolver
ensp
ENSP00000486719
resolver
ensp
ENSP00000540944
resolver
ensp
ENSP00000778847
resolver
genesymbol
NR3C2
resolver
genesymbol_syn
MCR
resolver
genesymbol_syn
MLR
resolver
hgnc
HGNC:7979
resolver
uniprot
B0ZBF5
resolver
uniprot
B0ZBF7
resolver
uniprot
Q2NKL1
resolver
uniprot
Q96KQ8
resolver
uniprot
Q96KQ9
resolver
uniprot_entry
MCR_HUMAN
resolver
uniprot_sec
B0ZBF5
resolver
uniprot_sec
B0ZBF7
resolver
uniprot_sec
Q2NKL1
resolver
uniprot_sec
Q96KQ8
resolver
uniprot_sec
Q96KQ9
resolver
amino_acid_sequence
METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNSTQGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYEQQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAVVKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPNVENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSPANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVPSPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSDSSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYFSFMDDKDYYSLSGILGPPVPGFDGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHYRIGAQGTISLSRSARDQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPSKICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRLQKCLQAGMNLGARKSKKLGKLKGIHEEQPQQQQPPPPPPPPQSPEEGTTYIAPAKEPSVNTALVPQLSTISRALTPSPVMVLENIEPEIVYAGYDSSKPDTAENLLSTLNRLAGKQMIQVVKWAKVLPGFKNLPLEDQITLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKMHQSAMYELCQGMHQISLQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYIKELRKMVTKCPNNSGQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAMLVEIISDQLPKVESGNAKPLYFHRK
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:11134129, ECO:0000269|PubMed:12788847, ECO:0000269|PubMed:16954160, ECO:0000269|PubMed:16972228}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:10884226, ECO:0000269|PubMed:15908963, ECO:0000269|PubMed:15967794}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:3037703}.
uniprot
proteins
mass_dalton
107082
uniprot
proteins
mutagenesis
MUTAGEN 767; /note="S->N: Loss of transcription transactivation."; /evidence="ECO:0000269|PubMed:15967794"; MUTAGEN 767; /note="S->Q: Strong decrease of transcription transactivation."; /evidence="ECO:0000269|PubMed:15967794"; MUTAGEN 770; /note="N->A,D,H,Q,S,T: Abolishes aldosterone binding and transcription transactivation."; /evidence="ECO:0000269|PubMed:10760050, ECO:0000269|PubMed:15967794"; MUTAGEN 776; /note="Q->A: Reduces aldosterone binding and transcription transactivation."; /evidence="ECO:0000269|PubMed:10760050, ECO:0000269|PubMed:15908963"; MUTAGEN 782; /note="K->E: Decreased coactivator binding."; /evidence="ECO:0000269|PubMed:16061183"; MUTAGEN 785; /note="K->E: Loss of coactivator binding."; /evidence="ECO:0000269|PubMed:16061183"; MUTAGEN 796; /note="E->R: Decreased coactivator binding."; /evidence="ECO:0000269|PubMed:16061183"; MUTAGEN 808; /note="C->S: Increases aldosterone-binding."; /evidence="ECO:0000269|PubMed:9724527"; MUTAGEN 810; /note="S->M: Alters receptor specificity."; /evidence="ECO:0000269|PubMed:10884226"; MUTAGEN 817; /note="R->A: Reduces aldosterone binding and transcription transactivation."; /evidence="ECO:0000269|PubMed:10760050, ECO:0000269|PubMed:15908963"; MUTAGEN 849; /note="C->S: Strongly decreases affinity for aldosterone and transcription transactivation."; /evidence="ECO:0000269|PubMed:9724527"; MUTAGEN 942; /note="C->S: Abolishes steroid binding and transcription transactivation."; /evidence="ECO:0000269|PubMed:9724527"; MUTAGEN 945; /note="T->A: Decreases aldosterone-binding and cortisol-binding."; /evidence="ECO:0000269|PubMed:10760050, ECO:0000269|PubMed:15967794"; MUTAGEN 952; /note="L->A: Reduces transcription transactivation."; /evidence="ECO:0000269|PubMed:10935545"; MUTAGEN 953; /note="K->A: Slightly reduces aldosterone binding and abolishes transcription transactivation."; /evidence="ECO:0000269|PubMed:10935545"; MUTAGEN 954; /note="V->A: Reduces aldosterone binding and abolishes transcription transactivation."; /evidence="ECO:0000269|PubMed:10935545"; MUTAGEN 956; /note="F->A: Abolishes aldosterone binding and transcription transactivation."; /evidence="ECO:0000269|PubMed:10935545"; MUTAGEN 957; /note="P->A: Slightly reduces aldosterone binding and transcription transactivation."; /evidence="ECO:0000269|PubMed:10935545
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000269|PubMed:1655735}.
uniprot
proteins
protein_family
NR3 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10391210
uniprot
proteins
pubmed
10760050
uniprot
proteins
pubmed
10884226
uniprot
proteins
pubmed
10935545
uniprot
proteins
pubmed
11134129
uniprot
proteins
pubmed
11350956
uniprot
proteins
pubmed
11518808
uniprot
proteins
pubmed
12483305
uniprot
proteins
pubmed
12788847
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15908963
uniprot
proteins
pubmed
15967794
uniprot
proteins
pubmed
16061183
uniprot
proteins
pubmed
1655735
uniprot
proteins
pubmed
16954160
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16972228
uniprot
proteins
pubmed
19029984
uniprot
proteins
pubmed
1939532
uniprot
proteins
pubmed
25188500
uniprot
proteins
pubmed
3037703
uniprot
proteins
pubmed
7495694
uniprot
proteins
pubmed
9141514
uniprot
proteins
pubmed
9392437
uniprot
proteins
pubmed
9662404
uniprot
proteins
pubmed
9724527
uniprot
proteins
sequence_length
984
uniprot
proteins
subcellular_location
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.
uniprot
proteins