2024年12月25日 · NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2) is a Protein Coding gene. Diseases associated with NR3C2 include Pseudohypoaldosteronism, Type I, Autosomal Dominant and Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy .

The mineralocorticoid receptor (or MR, MLR, MCR), also known as the aldosterone receptor or nuclear receptor subfamily 3, group C, member 2, (NR3C2) is a protein that in humans is encoded by the NR3C2 gene that is located on chromosome 4q31.1-31.2.

Nuclear receptor subfamily 3 group c member 2 (NR3C2) is downregulated due to hypermethylation and plays a tumor-suppressive role in colon cancer. Sex-Related Signaling of Aldosterone/Mineralocorticoid Receptor Pathway in Calcific Aortic Stenosis. MicroRNA-155-5p Targets NR3C2 to Promote Malignant Progression of Clear Cell Renal Cell Carcinoma.

Title: NR3C2 inhibits the proliferation of colorectal cancer via regulating glucose metabolism and phosphorylating AMPK. NR3C2 mediates oxidised low-density lipoprotein-induced human coronary endothelial cells dysfunction via modulation of NLRP3 inflammasome activation.

关于 nr3c2 Cytogenetic location: 4q31.23 Genomic coordinates (GRCh38): 4:148,078,764-148,445,508 (from NCBI) This gene has 9 transcripts (splice variants), 213 orthologues, 8 paralogues and is associated with 3 phenotypes.

The NR3C2 gene provides instructions for making a protein called the mineralocorticoid receptor. This protein is important in regulating the amount of sodium in the body. Sodium regulation plays a role in blood pressure control and fluid balance.

NR3C2, or mineralocorticoid receptor (MR), belongs to the nuclear receptor superfamily and functions as a ligand-dependent transcription factor that mediates the effects of aldosterone on a variety of target tissues, including the distal parts of the nephron, the distal colon, the cardiovascular and central nervous systems, and brown adipose ...

在谷氨酸能突触中活跃。在几个结构中表达，包括中枢神经系统和泌尿生殖系统。用于研究 1 型常染色体显性假性醛固酮减退症。该基因的人类直系同源物涉及常染色体显性假性醛固酮减退症 1 型和假性醛固酮减少症。与人 nr3c2（核受体亚家族 3 c 组成员 2）同源。

Transmitted variants in the NR3C2 gene were observed in three multiplex ASD families from the iHART cohort in Ruzzo et al., 2019; phenotypic characterization of probands from these three families found striking phenotypic similarities defining a new syndromic form of ASD characterized by metacarpal hypoplasia, a high arched palate, sensory ...

2024年6月13日 · 研究显示，核受体亚家族3C 组成员2（nuclear receptor subfamily 3 group C member 2，NR3C2）通过抑制肿瘤细胞增殖、迁移、侵袭和上皮-间充质转化（epithelial-mesenchymal transition，EMT）来抑制肿瘤进展[1-2]。