NR3C2 - nuclear receptor subfamily 3 group C member 2 Gene
Also Known as MR; MCR; MLR; NR3C2VIT
Species: Homo sapiens
About NR3C2
This gene has 9 transcripts (splice variants), 213 orthologues, 8 paralogues and is associated with 3 phenotypes. Broad expression in colon (RPKM 10.3), thyroid (RPKM 8.7) and 24 other tissues.
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]
NR3C2 Products (10)
| mRNA | Protein | Name |
|---|---|---|
| XM_047415708.1 | XP_047271664.1 | mineralocorticoid receptor isoform X2 |
| NR_148974.2 | ||
| XM_011531975.2 | XP_011530277.1 | mineralocorticoid receptor isoform X1 |
| XM_047415709.1 | XP_047271665.1 | mineralocorticoid receptor isoform X4 |
| XM_047415707.1 | XP_047271663.1 | mineralocorticoid receptor isoform X2 |
| NM_000901.5 | NP_000892.2 | mineralocorticoid receptor isoform 1 |
| NM_001166104.2 | NP_001159576.1 | mineralocorticoid receptor isoform 2 |
| NM_001354819.1 | NP_001341748.1 | mineralocorticoid receptor isoform 2 |
| XM_011531978.3 | XP_011530280.1 | mineralocorticoid receptor isoform X3 |
| XM_047415706.1 | XP_047271662.1 | mineralocorticoid receptor isoform X2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables TBP-class protein binding |
IPI
IPI: Inferred from physical interaction
|
20685853 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11518808 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in positive regulation of non-canonical NF-kappaB signal transduction |
IMP
IMP: Inferred from mutant phenotype
|
30769772 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
23382219 | GOA |
NR3C2 Protein Structure
zf-C4: Zinc finger, C4 type (two domains) (602 - 669)
Hormone_recep: Ligand-binding domain of nuclear hormone receptor (753 - 934)
- 0
- 200
- 400
- 600
- 800
- 984 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
mineralocorticoid receptor |
|
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Central Serous Chorioretinopathy |
|
|
| Left Bundle Branch Hemiblock |
|
|
| Hyperaldosteronism, Familial, Type I |
|
|
| Hyperchlorhidrosis, Isolated |
|
|
| Miliaria |
|
|
| Conn'S Syndrome |
|
|
| Major Depressive Disorder |
|
|
| Disseminated Chorioretinitis |
|
|
| Metabolic Acidosis |
|
|
| Tricuspid Valve Insufficiency |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Peripartum Cardiomyopathy |
|
|
| Adrenal Gland Disease |
|
|
| Mitral Valve Disease |
|
|
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
|
| Mitral Valve Stenosis |
|
|
| Mood Disorder |
|
|
| Anuria |
|
|
| Apnea, Obstructive Sleep |
|
|
| Stroke, Ischemic |
|
|
| Breast Cancer |
|
|
| Atypical Depressive Disorder |
|
|
| Mineral Metabolism Disease |
|
|
| Renal Tubular Transport Disease |
|
|
| Acute Myocardial Infarction |
|
|
| Post-Traumatic Stress Disorder |
|
|
| Ocular Hypertension |
|
|
| Nephrosclerosis |
|
|
| Apparent Mineralocorticoid Excess |
|
|
| Heart Valve Disease |
|
|
| Dilated Cardiomyopathy |
|
|
| Renal Hypertension |
|
|
| Diastolic Heart Failure |
|
|
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
|
| Supine Hypotensive Syndrome |
|
|
| Liddle Syndrome 1 |
|
|
| Systolic Heart Failure |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Urinary Tract Infection |
|
|
| Myocardial Infarction |
|
|
| Gynecomastia |
|
|
| Hypertensive Retinopathy |
|
|
| Vascular Disease |
|
|
| Mitral Valve Insufficiency |
|
|
| Hypertension Due To Gain-Of-Function Mutations In The Mineralocorticoid Receptor |
|
|
| Tricuspid Valve Disease |
|
|
| Atrial Fibrillation |
|
|
| Autism Spectrum Disorder |
|
|
| Adrenal Carcinoma |
|
|
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
|
| Pseudohypoaldosteronism |
|
|
| Kyphoscoliotic Heart Disease |
|
|
| Congestive Heart Failure |
|
|
| Disorder Of Sexual Development |
|
|
| Cardiovascular System Disease |
|
|
| Arthrogryposis, Distal, Type 3 |
|
|
| Heart Conduction Disease |
|
|
| Chronic Kidney Disease |
|
|
| Renovascular Hypertension |
|
|
| Autism |
|
|
| Renal Fibrosis |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Kidney Disease |
|
|
| Lipoid Congenital Adrenal Hyperplasia |
|
|
| Heart Disease |
|
|
| Steroid Inherited Metabolic Disorder |
|
|
| Hypokalemia |
|
|
| Miliaria Rubra |
|
|
| Hypertensive Heart Disease |
|
|
| Cardiac Tuberculosis |
|
|
| Hypertension, Essential |
|
|
| Endocrine Organ Benign Neoplasm |
|
|
| Diabetes Mellitus |
|
|
| Adrenal Adenoma |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | NR3C2 | RGD | RGD:3094 |
| Mus musculus | NR3C2 | MGD | MGI:99459 |
| Bos taurus | NR3C2 | VGNC | VGNC:32244 |
| Felis catus | NR3C2 | VGNC | VGNC:68553 |
| Canis familiaris | NR3C2 | VGNC | VGNC:43953 |
| Macaca mulatta | NR3C2 | VGNC | VGNC:75516 |
| Others | NR3C2 | NCBI |