Official symbol | NR3C2 |
Gene id | 4306 |
Organism | Homo sapiens |
Official full symbol | nuclear receptor subfamily 3 group C member 2 |
Gene type | protein-coding |
Also known as | MCR, MLR, MR, NR3C2VIT |
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. |
Genomic regions | Chromosome 4 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
NR3C2-203 | ENST00000358102.8 | 5792 | 984aa | Protein coding | CCDS3772 | P08235-1 | NM_000901.5 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
NR3C2-202 | ENST00000344721.8 | 5712 | 984aa | Protein coding | CCDS3772 | P08235-1 | - | TSL:5, GENCODE basic, APPRIS P2, |
NR3C2-208 | ENST00000512865.5 | 3822 | 867aa | Protein coding | CCDS54811 | P08235-4 | - | TSL:1, GENCODE basic, |
NR3C2-209 | ENST00000625323.2 | 5909 | 988aa | Protein coding | - | P08235-3 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
NR3C2-207 | ENST00000511528.1 | 2967 | 988aa | Protein coding | - | P08235-3 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
NR3C2-201 | ENST00000342437.8 | 3150 | 706aa | Nonsense mediated decay | - | P08235-2 | - | TSL:2, |
NR3C2-205 | ENST00000503313.1 | 877 | No protein | Processed transcript | - | - | - | TSL:5, |
NR3C2-206 | ENST00000504753.1 | 438 | No protein | Processed transcript | - | - | - | TSL:5, |
NR3C2-204 | ENST00000503174.1 | 491 | No protein | Retained intron | - | - | - | TSL:3, |
Target Gene | NR3C2 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene NR3C2 had been KO in hela cell line. |
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