Details for: NR3C2

Gene ID: 4306

Symbol: NR3C2

Ensembl ID: ENSG00000151623

Description: nuclear receptor subfamily 3 group C member 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 375.3249
    Cell Significance Index: -58.3800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 231.3090
    Cell Significance Index: -58.6700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 84.9897
    Cell Significance Index: -57.0300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 48.4109
    Cell Significance Index: -46.2200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 47.4591
    Cell Significance Index: -58.5200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 23.4489
    Cell Significance Index: -51.3200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 20.4677
    Cell Significance Index: -54.8300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.8706
    Cell Significance Index: -58.6800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 6.9211
    Cell Significance Index: 147.9400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 4.8668
    Cell Significance Index: 73.3400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 4.7734
    Cell Significance Index: 1712.1300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 4.7454
    Cell Significance Index: 135.4200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 4.4394
    Cell Significance Index: 298.5100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 3.0390
    Cell Significance Index: 233.2100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.5009
    Cell Significance Index: 501.6700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 2.1514
    Cell Significance Index: 41.9900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.0128
    Cell Significance Index: 89.0300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.8967
    Cell Significance Index: 116.5800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.8330
    Cell Significance Index: 69.4100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.6412
    Cell Significance Index: 1135.1000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.5051
    Cell Significance Index: 244.7900
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.4830
    Cell Significance Index: 21.3300
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 1.2186
    Cell Significance Index: 17.0400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.0081
    Cell Significance Index: 29.0500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.8940
    Cell Significance Index: 22.9800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.8176
    Cell Significance Index: 371.0900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7950
    Cell Significance Index: 86.4800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7875
    Cell Significance Index: 17.0600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.7038
    Cell Significance Index: 16.8800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.5754
    Cell Significance Index: 14.0400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.5549
    Cell Significance Index: 19.5000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.5112
    Cell Significance Index: 962.5900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5016
    Cell Significance Index: 452.9500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.4428
    Cell Significance Index: 281.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2124
    Cell Significance Index: 327.0500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1921
    Cell Significance Index: 10.7800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1913
    Cell Significance Index: 352.8400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1591
    Cell Significance Index: 7.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.1415
    Cell Significance Index: 14.7400
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.1236
    Cell Significance Index: 1.2800
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.1103
    Cell Significance Index: 1.4300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0893
    Cell Significance Index: 17.0000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0800
    Cell Significance Index: 14.4200
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0675
    Cell Significance Index: 0.9700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0435
    Cell Significance Index: 59.2000
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.0198
    Cell Significance Index: 0.2000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0010
    Cell Significance Index: -0.0200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0428
    Cell Significance Index: -31.3500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0574
    Cell Significance Index: -42.5500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0690
    Cell Significance Index: -13.7000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0712
    Cell Significance Index: -38.8700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0750
    Cell Significance Index: -56.7500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.0776
    Cell Significance Index: -7.6800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0880
    Cell Significance Index: -15.0300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0949
    Cell Significance Index: -6.5600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0978
    Cell Significance Index: -55.1700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1016
    Cell Significance Index: -63.4400
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.1111
    Cell Significance Index: -1.6900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1159
    Cell Significance Index: -14.2500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.1178
    Cell Significance Index: -52.0700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1366
    Cell Significance Index: -19.8600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1721
    Cell Significance Index: -49.5300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2839
    Cell Significance Index: -59.8000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3176
    Cell Significance Index: -3.9600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3358
    Cell Significance Index: -8.4000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3387
    Cell Significance Index: -34.6000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.3456
    Cell Significance Index: -47.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3582
    Cell Significance Index: -16.8400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3670
    Cell Significance Index: -7.8200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3719
    Cell Significance Index: -43.3400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3927
    Cell Significance Index: -50.7400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4397
    Cell Significance Index: -50.3800
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.4634
    Cell Significance Index: -5.8400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4739
    Cell Significance Index: -29.8700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.4807
    Cell Significance Index: -56.6900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4868
    Cell Significance Index: -15.5900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.4931
    Cell Significance Index: -63.2200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5072
    Cell Significance Index: -23.6500
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.5390
    Cell Significance Index: -9.3200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.5461
    Cell Significance Index: -6.8900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5593
    Cell Significance Index: -11.8700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5622
    Cell Significance Index: -9.6400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.5666
    Cell Significance Index: -15.8400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.5703
    Cell Significance Index: -8.4200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5895
    Cell Significance Index: -30.9500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5949
    Cell Significance Index: -47.1200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6124
    Cell Significance Index: -31.9000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6174
    Cell Significance Index: -37.8500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.6804
    Cell Significance Index: -14.7000
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.6823
    Cell Significance Index: -2.9700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.6954
    Cell Significance Index: -35.1400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.7014
    Cell Significance Index: -8.7000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.7023
    Cell Significance Index: -36.4800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.7050
    Cell Significance Index: -52.5400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.8479
    Cell Significance Index: -54.7000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.8935
    Cell Significance Index: -63.1900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.8963
    Cell Significance Index: -13.2300
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.9421
    Cell Significance Index: -12.0800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.9771
    Cell Significance Index: -31.1200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.0005
    Cell Significance Index: -35.0500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** NR3C2 is a ligand-activated transcription factor that binds to specific DNA sequences, known as glucocorticoid response elements (GREs). Upon binding to its ligands, NR3C2 regulates the expression of target genes involved in various cellular processes, including immune response, cell growth, and differentiation. The receptor is composed of three functional domains: the ligand-binding domain, the DNA-binding domain, and the transcriptional activation domain. **Pathways and Functions:** NR3C2 is involved in several signaling pathways, including: 1. **Intracellular Steroid Hormone Receptor Signaling Pathway:** This pathway involves the activation of NR3C2 by glucocorticoids, leading to the regulation of gene expression. 2. **Chromatin Remodeling:** NR3C2 interacts with chromatin remodeling complexes, such as histone deacetylases (HDACs) and histone acetyltransferases (HATs), to regulate gene expression. 3. **Protein Binding:** NR3C2 interacts with various proteins, including transcription factors, co-receptors, and co-activators, to regulate gene expression. 4. **Post-Translational Protein Modification:** NR3C2 is subject to various post-translational modifications, including phosphorylation and ubiquitination, which regulate its activity. **Clinical Significance:** NR3C2 plays a critical role in various diseases, including: 1. **Glucocorticoid Resistance:** Mutations in the NR3C2 gene have been associated with glucocorticoid resistance, a condition characterized by impaired glucocorticoid signaling. 2. **Mineralocorticoid Resistance:** NR3C2 is involved in the regulation of mineralocorticoid signaling, and mutations in the gene can lead to mineralocorticoid resistance, a condition characterized by hypertension and hypokalemia. 3. **Autoimmune Diseases:** NR3C2 is involved in the regulation of immune responses, and dysregulation of NR3C2 has been implicated in autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis. 4. **Cancer:** NR3C2 is involved in the regulation of cell growth and differentiation, and dysregulation of NR3C2 has been implicated in various types of cancer, including breast cancer and lung cancer. In conclusion, NR3C2 is a critical regulator of gene expression in response to steroid hormones and plays a significant role in immune regulation, cellular stress responses, and various diseases. Further research is needed to fully elucidate the mechanisms of NR3C2 and its potential therapeutic applications.

Genular Protein ID: 2308311963

Symbol: MCR_HUMAN

Name: Mineralocorticoid receptor

UniProtKB Accession Codes:

P08235 B0ZBF5 B0ZBF7 Q2NKL1 Q96KQ8 Q96KQ9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChEBI 20 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 23 DrugCentral 1 EMBL 14 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 18 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 29 PDBsum 29 PIR 1 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 RNAct 1 Reactome 3 RefSeq 6 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3037703

Title: Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor.

PubMed ID: 3037703

DOI: 10.1126/science.3037703

PubMed ID: 11518808

Title: A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action.

PubMed ID: 11518808

DOI: 10.1210/mend.15.9.0689

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9662404

Title: Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.

PubMed ID: 9662404

DOI: 10.1038/966

PubMed ID: 1655735

Title: Overexpression and characterization of the human mineralocorticoid receptor.

PubMed ID: 1655735

DOI: 10.1016/s0021-9258(18)55238-8

PubMed ID: 1939532

Title: Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.

PubMed ID: 1939532

DOI: 10.1210/jcem-73-5-936

PubMed ID: 7495694

Title: Identification of a splice variant of the rat and human mineralocorticoid receptor genes.

PubMed ID: 7495694

DOI: 10.1016/0960-0760(95)00162-s

PubMed ID: 9141514

Title: Tissue-specific expression of alpha and beta messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states.

PubMed ID: 9141514

DOI: 10.1210/jcem.82.5.3933

PubMed ID: 9392437

Title: The unliganded mineralocorticoid receptor is associated with heat shock proteins 70 and 90 and the immunophilin FKBP-52.

PubMed ID: 9392437

PubMed ID: 9724527

Title: Cysteines 849 and 942 of human mineralocorticoid receptor are crucial for steroid binding.

PubMed ID: 9724527

DOI: 10.1021/bi980593e

PubMed ID: 10760050

Title: Mechanistic aspects of mineralocorticoid receptor activation.

PubMed ID: 10760050

DOI: 10.1046/j.1523-1755.2000.00958.x

PubMed ID: 10935545

Title: Crucial role of the H11-H12 loop in stabilizing the active conformation of the human mineralocorticoid receptor.

PubMed ID: 10935545

DOI: 10.1210/mend.14.8.0502

PubMed ID: 11350956

Title: The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2.

PubMed ID: 11350956

DOI: 10.1074/jbc.m100374200

PubMed ID: 19029984

Title: Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease.

PubMed ID: 19029984

DOI: 10.1038/nm.1879

PubMed ID: 15967794

Title: A ligand-mediated hydrogen bond network required for the activation of the mineralocorticoid receptor.

PubMed ID: 15967794

DOI: 10.1074/jbc.m504098200

PubMed ID: 16061183

Title: Structural and biochemical mechanisms for the specificity of hormone binding and coactivator assembly by mineralocorticoid receptor.

PubMed ID: 16061183

DOI: 10.1016/j.molcel.2005.06.026

PubMed ID: 15908963

Title: Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension.

PubMed ID: 15908963

DOI: 10.1038/nsmb939

PubMed ID: 25188500

Title: Crystal structure of the mineralocorticoid receptor DNA binding domain in complex with DNA.

PubMed ID: 25188500

DOI: 10.1371/journal.pone.0107000

PubMed ID: 10391210

Title: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.

PubMed ID: 10391210

DOI: 10.1038/10297

PubMed ID: 11134129

Title: A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.

PubMed ID: 11134129

DOI: 10.1210/jcem.85.12.7078

PubMed ID: 10884226

Title: Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy.

PubMed ID: 10884226

DOI: 10.1126/science.289.5476.119

PubMed ID: 12483305

Title: Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism.

PubMed ID: 12483305

DOI: 10.1007/s00439-002-0855-7

PubMed ID: 12788847

Title: Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

PubMed ID: 12788847

DOI: 10.1210/jc.2002-021932

PubMed ID: 16954160

Title: Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

PubMed ID: 16954160

DOI: 10.1210/jc.2006-1161

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 16972228

Title: Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

PubMed ID: 16972228

DOI: 10.1002/humu.20371

Sequence Information:

  • Length: 984
  • Mass: 107082
  • Checksum: 833D900F2CB27390
  • Sequence:
    • METKGYHSLP EGLDMERRWG QVSQAVERSS LGPTERTDEN NYMEIVNVSC VSGAIPNNST 
QGSSKEKQEL LPCLQQDNNR PGILTSDIKT ELESKELSAT VAESMGLYMD SVRDADYSYE 
QQNQQGSMSP AKIYQNVEQL VKFYKGNGHR PSTLSCVNTP LRSFMSDSGS SVNGGVMRAV 
VKSPIMCHEK SPSVCSPLNM TSSVCSPAGI NSVSSTTASF GSFPVHSPIT QGTPLTCSPN 
VENRGSRSHS PAHASNVGSP LSSPLSSMKS SISSPPSHCS VKSPVSSPNN VTLRSSVSSP 
ANINNSRCSV SSPSNTNNRS TLSSPAASTV GSICSPVNNA FSYTASGTSA GSSTLRDVVP 
SPDTQEKGAQ EVPFPKTEEV ESAISNGVTG QLNIVQYIKP EPDGAFSSSC LGGNSKINSD 
SSFSVPIKQE STKHSCSGTS FKGNPTVNPF PFMDGSYFSF MDDKDYYSLS GILGPPVPGF 
DGNCEGSGFP VGIKQEPDDG SYYPEASIPS SAIVGVNSGG QSFHYRIGAQ GTISLSRSAR 
DQSFQHLSSF PPVNTLVESW KSHGDLSSRR SDGYPVLEYI PENVSSSTLR SVSTGSSRPS 
KICLVCGDEA SGCHYGVVTC GSCKVFFKRA VEGQHNYLCA GRNDCIIDKI RRKNCPACRL 
QKCLQAGMNL GARKSKKLGK LKGIHEEQPQ QQQPPPPPPP PQSPEEGTTY IAPAKEPSVN 
TALVPQLSTI SRALTPSPVM VLENIEPEIV YAGYDSSKPD TAENLLSTLN RLAGKQMIQV 
VKWAKVLPGF KNLPLEDQIT LIQYSWMCLS SFALSWRSYK HTNSQFLYFA PDLVFNEEKM 
HQSAMYELCQ GMHQISLQFV RLQLTFEEYT IMKVLLLLST IPKDGLKSQA AFEEMRTNYI 
KELRKMVTKC PNNSGQSWQR FYQLTKLLDS MHDLVSDLLE FCFYTFRESH ALKVEFPAML 
VEIISDQLPK VESGNAKPLY FHRK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.