Reactome | UniProt:P08235-4 NR3C2

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UniProt:P08235-4 NR3C2 Show undefined attributes

chain	chain:1-984
checksum	833D900F2CB27390
comment	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.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.SUBCELLULAR LOCATION 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.ALTERNATIVE PRODUCTS Additional isoforms seem to exist.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.DOMAIN Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.PTM Phosphorylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Lacks steroid-binding activity and acts as ligand-independent transactivator.SIMILARITY Belongs to the nuclear hormone receptor family. NR3 subfamily.ONLINE INFORMATION Mineralocorticoid receptor entry
crossReference	[DatabaseIdentifier:10972304] Pharos - Targets:P08235 [DatabaseIdentifier:10981753] Guide to Pharmacology - Targets:626 [DatabaseIdentifier:11057611] OpenTargets:ENSG00000151623 [DatabaseIdentifier:11606766] RefSeq:NP_000892.2 [DatabaseIdentifier:11606797] RefSeq:NP_001159576.1 [DatabaseIdentifier:11606830] RefSeq:XP_011530277.1 [DatabaseIdentifier:11606855] RefSeq:XP_011530278.1 [DatabaseIdentifier:11606877] RefSeq:XP_011530279.1 [DatabaseIdentifier:11606902] RefSeq:XP_016863706.1 [DatabaseIdentifier:11780164] PDB:1Y9R [DatabaseIdentifier:11780189] PDB:1YA3 [DatabaseIdentifier:11780214] PDB:2A3I [DatabaseIdentifier:11780248] PDB:2AA2 [DatabaseIdentifier:11780281] PDB:2AA5 [DatabaseIdentifier:11780314] PDB:2AA6 [DatabaseIdentifier:11780344] PDB:2AA7 [DatabaseIdentifier:11780380] PDB:2AAX [DatabaseIdentifier:11780410] PDB:2AB2 [DatabaseIdentifier:11780436] PDB:2ABI [DatabaseIdentifier:11780476] PDB:2OAX [DatabaseIdentifier:11780498] PDB:3VHU [DatabaseIdentifier:11780519] PDB:3VHV [DatabaseIdentifier:11780542] PDB:3WFF [DatabaseIdentifier:11780571] PDB:3WFG [DatabaseIdentifier:11780610] PDB:4PF3 [DatabaseIdentifier:11780633] PDB:4TNT [DatabaseIdentifier:11780661] PDB:4UDA [DatabaseIdentifier:11780687] PDB:4UDB [DatabaseIdentifier:11780722] PDB:5HCV [DatabaseIdentifier:11780759] PDB:5L7E [DatabaseIdentifier:11780795] PDB:5L7G [DatabaseIdentifier:11780827] PDB:5L7H [DatabaseIdentifier:11780850] PDB:5MWP [DatabaseIdentifier:11780876] PDB:5MWY [DatabaseIdentifier:11780900] PDB:6GEV [DatabaseIdentifier:11780926] PDB:6GG8 [DatabaseIdentifier:11780950] PDB:6GGG [DatabaseIdentifier:11780976] PDB:6L88 [DatabaseIdentifier:11806421] PRO:P08235 [DatabaseIdentifier:11842410] GeneCards:P08235 [DatabaseIdentifier:11852707] ZINC - Substances:MCR_HUMAN [DatabaseIdentifier:11855334] ZINC - FDA approved:MCR_HUMAN [DatabaseIdentifier:11856366] ZINC - World Drugs:MCR_HUMAN [DatabaseIdentifier:11857568] ZINC - Metabolites:MCR_HUMAN [DatabaseIdentifier:11858356] ZINC - Biogenic:MCR_HUMAN [DatabaseIdentifier:11859775] ZINC - Investigational:MCR_HUMAN [DatabaseIdentifier:11861302] ZINC - Predictions - Purchasable:MCR_HUMAN [DatabaseIdentifier:11863709] ZINC target:P08235 [DatabaseIdentifier:11883116] Orphanet:16573 [DatabaseIdentifier:11893769] HPA:ENSG00000151623-NR3C2 [DatabaseIdentifier:11966948] Ensembl:ENSP00000423510 [DatabaseIdentifier:11966949] Ensembl:ENST00000358102 [DatabaseIdentifier:11966950] Ensembl:ENSP00000350815 [DatabaseIdentifier:11966951] Ensembl:ENSG00000151623 [DatabaseIdentifier:11966952] Ensembl:ENSP00000343907 [DatabaseIdentifier:11966953] Ensembl:ENSP00000486719 [DatabaseIdentifier:11966954] Ensembl:ENSP00000341390 [DatabaseIdentifier:11966955] Ensembl:ENSP00000421481 [DatabaseIdentifier:11966956] Ensembl:ENST00000512865 [DatabaseIdentifier:11966957] Ensembl:ENST00000511528 [DatabaseIdentifier:11966958] Ensembl:ENST00000342437 [DatabaseIdentifier:11966959] Ensembl:ENST00000625323 [DatabaseIdentifier:11966960] Ensembl:ENST00000344721
databaseName	UniProt
dbId	150162
description	recommendedName: Mineralocorticoid receptor shortName: MR alternativeName: Nuclear receptor subfamily 3 group C member 2
displayName	UniProt:P08235-4 NR3C2
geneName	NR3C2 MCR MLR
identifier	P08235
isSequenceChanged	false
isoformParent	[ReferenceGeneProduct:402581] UniProt:P08235 NR3C2
keyword	3D-structure Alternative splicing Cytoplasm Disease variant DNA-binding Endoplasmic reticulum Lipid-binding Membrane Metal-binding Nucleus Phosphoprotein Receptor Reference proteome Steroid-binding Transcription Transcription regulation Zinc Zinc-finger
modified	[InstanceEdit:12187927] Wright, Adam, 2024-03-12
name	NR3C2
otherIdentifier	11723163_s_at 11746623_a_at 16980470 205259_PM_at 205259_at 2788927 2788928 2788942 2788943 2788950 2788954 2788955 2788956 2788957 2788958 2788973 2788974 2788992 2789010 2789013 2789014 33249_at 4306 8103094 A_23_P392470 GE57845 GO:0000785 GO:0000981 GO:0003677 GO:0003700 GO:0003707 GO:0004879 GO:0005496 GO:0005515 GO:0005634 GO:0005654 GO:0005694 GO:0005737 GO:0005783 GO:0005789 GO:0005829 GO:0006351 GO:0006355 GO:0006357 GO:0007165 GO:0008270 GO:0008289 GO:0016020 GO:0017025 GO:0023052 GO:0030518 GO:0034056 GO:0043226 GO:0043235 GO:0043565 GO:0046872 GO:0060089 GO:0140110 GO:1901224 GO:1990837 HMNXSV003026438 HMNXSV003056648 ILMN_2210934 M16801_at PH_hs_0023835 TC04001627.hg g4505198_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-3196178] NR3C2-4 [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:9004235] ENSEMBL:ENSG00000151623 NR3C2 [ReferenceDNASequence:11024115] KEGG Gene (Homo sapiens):4306 NR3C2 [ReferenceDNASequence:11238682] NCBI Gene:4306 NR3C2 [ReferenceDNASequence:11238683] BioGPS Gene:4306 NR3C2 [ReferenceDNASequence:11238684] CTD Gene:4306 NR3C2 [ReferenceDNASequence:11238685] dbSNP Gene:4306 NR3C2 [ReferenceDNASequence:11238686] Monarch:4306 NR3C2 [ReferenceDNASequence:11345377] ENSEMBL_homo_sapiens_GENE:ENSG00000151623.15 NR3C2 [ReferenceDNASequence:11518919] UCSC:P08235 NR3C2 [ReferenceDNASequence:11799969] OMIM:600983 NR3C2 [ReferenceDNASequence:11869768] HGNC:7979 NR3C2 [ReferenceDNASequence:12198302] COSMIC (genes):NR3C2 NR3C2
referenceTranscript	[ReferenceRNASequence:11471461] RefSeq:NM_000901.4 NR3C2 [ReferenceRNASequence:11471479] RefSeq:NM_001166104.1 NR3C2 [ReferenceRNASequence:11471493] RefSeq:XM_011531975.1 NR3C2 [ReferenceRNASequence:11471508] RefSeq:XM_011531976.2 NR3C2 [ReferenceRNASequence:11471523] RefSeq:XM_011531977.2 NR3C2 [ReferenceRNASequence:11471535] RefSeq:XM_017008217.1 NR3C2
schemaClass	ReferenceIsoform
secondaryIdentifier	MCR_HUMAN B0ZBF5 B0ZBF7 Q2NKL1 Q96KQ8 Q96KQ9
sequenceLength	984
species	[Species:48887] Homo sapiens
url	https://purl.uniprot.org/uniprot/P08235-4
variantIdentifier	P08235-4

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(referenceEntity)

[EntityWithAccessionedSequence:R-HSA-3196178] NR3C2-4 [nucleoplasm]

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