Protein : NR3C2

Name NR3C2
Description nuclear receptor subfamily 3, group C, member 2
Owner Public
URN urn:agi-llid:4306
Connectivity 6
Notes MR is a nuclear hormone receptor whose unidirectional transfer to the nucleus may be regulated through multiple pathways. MR is expressed through alternative translation initiation, as distinct protein variants which possess different functional properties. Missense mutations of the human mineralocorticoid receptor disclose important residues involved in DNA binding, intracellular trafficking, and ligand binding. PIAS1 conjugates SUMO-1 to human mineralocorticoid receptor. Results reveal differential modulatory roles of the protein inhibitor of activated STAT proteins on the transcriptional properties of mineralocorticoid and glucocorticoid receptors. The MR contribution to nongenotropic effects of aldosterone was shown. The S810L missense mutation of the mineralocorticoid receptor does not play a major role in the etiology of pregnancy-induced hypertension in a German /Turkish population. The S810L mutation within the human mineralocorticoid receptor (MR S810L) induces severe hypertension. Site directed mutagenesis studies. The endogenous vascular smooth muscle MR mediates angiotensin II- and aldosterone-dependent gene expression, including several involved in vascular fibrosis, inflammation, and calcification. These findings demonstrate a coupling between MR up-regulation and transcriptional hyperactivity. Two frameshift mutations in exon 2 and one nonsense mutation in exon 4 (generate truncated proteins due to premature stop codons. Three missense mutations ) differently affect hMR function. DNA binding domain mutant has reduced maximal transactivation. Chenodeoxycholic acid and deoxycholic acid, by inhibiting 11 beta HSD2, mediate cortisol-dependent nuclear translocation and transcriptional activation of Mineralocorticoid receptor. Cortisone and 11-dehydrocorticosterone, the main cortisol and corticosterone metabolites produced in the distal nephron, where sodium reabsorption stimulated by aldosterone takes place, bind with high affinity to S810L mineralocorticoid receptor. Downregulation of MLR by aldosterone. Glucocorticoid and mineralocorticoid cross-talk with PR to produce progesterone-like effects in breast cancer cells. Mineralocorticoid receptor has a ligand-dependent interaction with coactivator and corepressor peptides. Our findings suggest a novel interplay between cAMP and MR signaling pathways; the N-terminal and the DNA binding domains of hMR are essential for enhancement of the catecholamine signal transduction pathway.

Microarray ID 1368476_at
m36074_at
m36074_g_at
rc_ai235978_at
A_43_P15261
A_51_P493965
A_52_P378137
33249_at
205259_at
M16801_at
rc_aa151766_s_at
rc_n91919_s_at
A_23_P392470
A_23_P155735
A_14_P117941
A_14_P117329
A_14_P105187
A_14_P134883
R304
OR0485
H141
OH1780

GenBank ID AC119248
AJ311855
AB209056
AC106889
AF068616
AF068617
AF068618
AF068619
AF068620
AF068621
AF068622
AF068623
AJ315514
AJ315515
BAD92293
CAC67405
CAC67406
M16801
NC_000004
NM_000901
NP_000892
NT_016354
NT_086656
P08235
AAA41583
M36074
NC_005118
NM_013131
NP_037263
NW_047535
P22199
X74498
AJ311856
AK136580
BAE23061
CAC86374
CAC86375
CF531934
NC_000074
NT_078575
Q8VII8
XM_356093
XP_356093
AAA59571
AAC63513
AAY41033

Chromosome position 19q11
4q31.1
8 35.0 cM

GO ID 0006355
0006883
0007165
0007588
0046872
0003677
0004872
0005515
0003700
0003707
0005496
0005634
0006350

Alias aldosterone receptor
Mineralocorticoid receptor
mineralocorticoid receptor (aldosterone receptor)
Nr3c2
nuclear receptor subfamily 3, group C, member 2
mineralocorticoid receptor (Saimiri sciureus)
mineralocorticoid receptor, MR
nuclear receptor subfamily 3, group C, member II
Mineralocorticoid receptors
aldosterone receptors

Organism Rattus norvegicus
Mus musculus
Homo sapiens

MedLine Reference 3037703
9662404
11809749
9689096

LocusLink ID 4306
25672
110784
17363

FunctionalClass DNA binding
protein binding
receptor
metal ion binding
steroid binding
steroid hormone receptor
transcription factor

GO Cellular Component nucleus

Cell Localization Plasma membrane
Nucleus

Pathway PGC1alpha
GR
MR
NR common targets
NR common regulators
NR CYP ABCs

GO Biological Process excretion
regulation of transcription, DNA-dependent
signal transduction
sodium ion homeostasis
transcription

Group Nuclear receptors
Nrs