NR3C2
GeneName
NR3C2
Summary
NR3C2, commonly referred to as the mineralocorticoid receptor (MCR), is a 107 kDa nuclear receptor that functions primarily as a transcription factor. It is expressed in various tissues, including the kidney, heart, and brain, where it plays a pivotal role in mediating the effects of mineralocorticoids such as aldosterone. NR3C2 is involved in the regulation of sodium and potassium homeostasis, blood pressure control, and the modulation of inflammatory responses. The receptor operates through binding to specific DNA sequences in target genes, influencing transcriptional activity and thereby impacting various physiological processes. Its activity is linked to several cellular components, including chromatin, the nucleus, and the endoplasmic reticulum membrane, reflecting its role in gene regulation and signal transduction pathways.
Importance
NR3C2 is relevant to: - Hypertension and cardiovascular diseases due to its role in sodium retention and blood pressure regulation - Metabolic disorders as it influences electrolyte balance and fluid homeostasis - Inflammatory responses and conditions, given its involvement in non-canonical NF-kappaB signalling - Potential therapeutic targets for diseases related to mineralocorticoid excess or deficiency, highlighting its significance in endocrine research
Top Products
For researchers investigating NR3C2, we highly recommend the well-cited Anti-Mineralocorticoid Receptor antibody [H10E4C9F] (ab2774). This monoclonal antibody has garnered 34 citations, reflecting its reliability and trust within the scientific community. It is particularly effective for immunohistochemistry (IHC), immunocytochemistry (ICC), and flow cytometry (FC), making it a versatile tool for various experimental needs. This antibody is an excellent choice for those looking to achieve consistent and reproducible results in their research on NR3C2.
Abcam Product Citation Summary
The NR3C2 gene, which encodes the mineralocorticoid receptor, has been studied in various contexts including kidney, heart, and cancer tissues. The use of Abcam antibody ab2774 in Western blotting and immunohistochemistry highlights its relevance in understanding receptor expression and activation in both normal and pathological states.
Abcam Product Citation Table
Domain
Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
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.
Involvement in disease
Pseudohypoaldosteronism 1, autosomal dominant
PHA1A
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Early-onset hypertension with severe exacerbation in pregnancy
EOHSEP
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated.
Sequence Similarities
Belongs to the nuclear hormone receptor family. NR3 subfamily.
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.
Cellular localization
- Cytoplasm
- Nucleus
- Endoplasmic reticulum membrane
- Peripheral membrane protein
- 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 names
MCR, MLR, NR3C2, Mineralocorticoid receptor, MR, Nuclear receptor subfamily 3 group C member 2
Database links
swissprot:P08235 entrezGene:4306 omim:600983
Other research areas
- Epigenetics