| URN | urn:agi-llid:4306 |
|---|---|
| Connectivity | 470 |
| Name | Nr3c2 |
| Description | nuclear receptor subfamily 3, group C, member 2 |
| Notes | 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] |
| Pathway | aldosterone signaling pathway |
|---|
| GO Molecular Function | hormone binding |
|---|---|
| lipid binding | |
| transcription factor activity | |
| steroid binding | |
| DNA binding | |
| protein homodimerization activity | |
| protein heterodimerization activity | |
| sequence-specific DNA binding | |
| double-stranded DNA binding | |
| metal ion binding | |
| zinc ion binding | |
| receptor activity | |
| steroid hormone receptor activity | |
| mineralocorticoid receptor activity |
| GO Cellular Component | membrane |
|---|---|
| cytoplasm | |
| endoplasmic reticulum membrane | |
| endoplasmic reticulum | |
| nucleus |
| GO Biological Process | regulation of cell proliferation |
|---|---|
| excretion | |
| signal transduction | |
| regulation of transcription | |
| regulation of transcription, DNA-dependent | |
| transcription | |
| cellular sodium ion homeostasis | |
| mineralocorticoid receptor signaling pathway |
| Ariadne Ontology | Estrogen-like |
|---|
| Group | Estrogen-like |
|---|---|
| regulation of cell proliferation | |
| excretion | |
| signal transduction | |
| regulation of transcription | |
| regulation of transcription, DNA-dependent | |
| transcription | |
| cellular sodium ion homeostasis | |
| mineralocorticoid receptor signaling pathway | |
| hormone binding | |
| lipid binding | |
| transcription factor activity | |
| steroid binding | |
| DNA binding | |
| protein homodimerization activity | |
| protein heterodimerization activity | |
| sequence-specific DNA binding | |
| double-stranded DNA binding | |
| metal ion binding | |
| zinc ion binding | |
| receptor activity | |
| steroid hormone receptor activity | |
| mineralocorticoid receptor activity | |
| membrane | |
| cytoplasm | |
| endoplasmic reticulum membrane | |
| endoplasmic reticulum | |
| nucleus |
| MedScan ID | 4306 |
|---|
| Hugo ID | 7979 |
|---|
| Human chromosome position | 4q31.1 |
|---|
| LocusLink ID | 4306 |
|---|---|
| 110784 | |
| 25672 |
| Alias | MR |
|---|---|
| MCR | |
| MLR | |
| FLJ41052 | |
| NR3C2VIT | |
| MGC133092 | |
| mineralocorticoid receptor | |
| OTTHUMP00000220257 | |
| aldosterone receptor | |
| mineralocorticoid receptor 1 | |
| mineralocorticoid receptor delta | |
| OTTMUSP00000026404 | |
| OTTMUSP00000026405 | |
| OTTMUSP00000026406 | |
| OTTMUSP00000026407 | |
| Mineralocorticoid receptor (aldosterone receptor) | |
| aldosterone receptors | |
| mineralocorticoid receptor (Saimiri sciureus) | |
| mineralocorticoid receptor, MR | |
| Mineralocorticoid receptors | |
| Nr3c2 | |
| nuclear receptor subfamily 3, group C, member 2 | |
| nuclear receptor subfamily 3, group C, member 2 variant 1 | |
| nuclear receptor subfamily 3, group C, member 2 variant 4 | |
| nuclear receptor subfamily 3, group C, member II |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 600983 |
|---|---|
| 605115 | |
| 177735 |
| Mouse chromosome position | 8 35.0 cM |
|---|
| GO ID | 0046872 |
|---|---|
| 0004872 | |
| 0043565 | |
| 0005496 | |
| 0003707 | |
| 0003700 | |
| 0008270 | |
| 0006355 | |
| 0007165 | |
| 0005737 | |
| 0005783 | |
| 0005789 | |
| 0016020 | |
| 0005634 | |
| 0003677 | |
| 0003690 | |
| 0042562 | |
| 0008289 | |
| 0017082 | |
| 0046982 | |
| 0042803 | |
| 0006883 | |
| 0007588 | |
| 0031959 | |
| 0042127 | |
| 0045449 | |
| 0006350 |
| Rat chromosome position | 19q11 |
|---|
| Swiss-Prot Accession | B0ZBF6 |
|---|---|
| P08235 | |
| B0ZBF5 | |
| Q2NKL1 | |
| Q4W5E8 | |
| Q59GQ3 | |
| A3KN90 | |
| Q3UW58 | |
| Q8VII8 | |
| P22199 | |
| Q96KQ8 | |
| Q96KQ9 | |
| Q63763 | |
| Q64174 |
| PIR ID | A29513 |
|---|---|
| A41401 |
| Unigene ID | Hs.163924 |
|---|---|
| Hs.723668 | |
| Mm.324393 | |
| Rn.9678 |
| KEGG ID | hsa:4306 |
|---|---|
| mmu:110784 | |
| rno:25672 |
| Swiss-Prot ID | MCR_HUMAN |
|---|---|
| MCR_RAT | |
| A3KN90_MOUSE | |
| B0ZBF5_HUMAN | |
| B0ZBF6_HUMAN | |
| Q2NKL1_HUMAN |
| Cell Localization | Cytoplasm |
|---|---|
| Nucleus | |
| Endoplasmic reticulum membrane |
| IPI ID | IPI00027744 |
|---|---|
| IPI00248972 | |
| IPI00248973 | |
| IPI00248974 | |
| IPI00230991 | |
| IPI00285687 | |
| IPI00324498 | |
| IPI00845570 | |
| IPI00889774 | |
| IPI00889506 | |
| IPI00889527 | |
| IPI00857806 | |
| IPI00858200 |
| Homologene ID | 121495 |
|---|
| RGD ID | 3094 |
|---|
| MGI ID | 99459 |
|---|