{ "uniprot_canonical_ac": "P08235-1", "uniprot_ac": "P08235", "uniprot_id": "MCR_HUMAN", "mass": { "chemical_mass": 107082.0, "monoisotopic_mass": 107082.0 }, "refseq": { "ac": "NP_000892", "name": "mineralocorticoid receptor isoform 1", "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. [provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000892" }, "gene_names": [ { "name": "NR3C2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08235", "id": "P08235" }, { "name": "MCR; MLR; MR; NR3C2VIT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000892", "id": "NP_000892" }, { "name": "MCR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08235", "id": "P08235" }, { "name": "MLR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08235", "id": "P08235" }, { "name": "NR3C2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000892", "id": "NP_000892" } ], "protein_names": [ { "name": "Mineralocorticoid receptor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08235" }, { "name": "MR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08235" }, { "name": "Nuclear receptor subfamily 3 group C member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08235" }, { "name": "aldosterone receptor; mineralocorticoid receptor delta; mineralocorticoid receptor 1; mineralocorticoid receptor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000892", "id": "NP_000892" }, { "name": "mineralocorticoid receptor isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000892", "id": "NP_000892" } ], "function": [ { "annotation": "Down-Regulation of the Mineralocorticoid Receptor (MR) and Up-Regulation of Hydroxysteroid 11-Beta Dehydrogenase Type 2 (HSD11B2) Isoenzyme in Critically Ill Patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000892" }, { "database": "PubMed", "id": "37130784", "url": "https://glygen.org/publication/PubMed/37130784" } ] }, { "annotation": "Effects of environmental and genetic interactions on job burnout in coal miners: interactions between occupational stress, coping styles, and NR3C2 gene polymorphisms. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000892" }, { "database": "PubMed", "id": "38054065", "url": "https://glygen.org/publication/PubMed/38054065" } ] }, { "annotation": "First Evidence of Mineralocorticoid Receptor Gene and Protein Expression in Rat and Human Thyroid Tissues and Cell Cultures. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000892" }, { "database": "PubMed", "id": "38255827", "url": "https://glygen.org/publication/PubMed/38255827" } ] }, { "annotation": "Mineralocorticoid Receptor Antagonists for Preventing Chronic Kidney Disease Progression: Current Evidence and Future Challenges. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000892" }, { "database": "PubMed", "id": "37175424", "url": "https://glygen.org/publication/PubMed/37175424" } ] }, { "annotation": "Mineralocorticoid receptor overactivation: targeting systemic impact with non-steroidal mineralocorticoid receptor antagonists. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000892" }, { "database": "PubMed", "id": "38127122", "url": "https://glygen.org/publication/PubMed/38127122" } ] }, { "annotation": "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.", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235#function" }, { "database": "PubMed", "id": "3037703", "url": "https://glygen.org/publication/PubMed/3037703" } ] }, { "annotation": "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, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_000892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000892" } ] } ], "disease": [ { "disease_id": "DOID:0060855", "recommended_name": { "id": "DOID:0060855", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060855", "name": "autosomal dominant pseudohypoaldosteronism type 1", "description": "A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31." }, "synonyms": [ { "id": "DOID:0060855", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060855", "name": "PHA1A", "description": "" }, { "id": "DOID:0060855", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060855", "name": "autosomal dominant PHA 1", "description": "" }, { "id": "MONDO:0008329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008329", "name": "autosomal dominant pseudohypoaldosteronism type 1", "description": "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney." }, { "id": "MONDO:0008329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008329", "name": "PHA1A", "description": "" }, { "id": "MONDO:0008329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008329", "name": "autosomal dominant PHA 1", "description": "" }, { "id": "MONDO:0008329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008329", "name": "autosomal dominant pseudohypoaldosteronism type 1", "description": "" }, { "id": "MONDO:0008329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008329", "name": "pseudohypoaldosteronism type i, autosomal dominant", "description": "" }, { "id": "MONDO:0008329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008329", "name": "PHA I, autosomal dominant", "description": "" }, { "id": "MONDO:0008329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008329", "name": "pseudohypoaldosteronism type 1 autosomal dominant", "description": "" }, { "id": "MONDO:0008329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008329", "name": "pseudohypoaldosteronism type 1, dominant", "description": "" }, { "id": "MONDO:0008329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008329", "name": "pseudohypoaldosteronism, type I, autosomal dominant", "description": "" }, { "id": "MONDO:0008329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008329", "name": "renal PHA1", "description": "" }, { "id": "MONDO:0008329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008329", "name": "renal pseudohypoaldosteronism type 1", "description": "" }, { "id": "MIM:177735", "resource": "MIM", "url": "https://www.omim.org/entry/177735", "name": "Pseudohypoaldosteronism 1, autosomal dominant", "description": "Pseudohypoaldosteronism 1, autosomal dominant" } ], "evidence": [ { "id": "177735", "database": "MIM", "url": "https://www.omim.org/entry/177735" } ] }, { "disease_id": "MONDO:0011517", "recommended_name": { "id": "MONDO:0011517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011517", "name": "pseudohyperaldosteronism type 2", "description": "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery." }, "synonyms": [ { "id": "MONDO:0011517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011517", "name": "early-onset hypertension with exacerbation in pregnancy", "description": "" }, { "id": "MONDO:0011517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011517", "name": "hypertension due to gain-of-function mutations in the mineralocorticoid receptor", "description": "" }, { "id": "MONDO:0011517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011517", "name": "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy", "description": "" }, { "id": "MONDO:0011517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011517", "name": "hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy", "description": "" }, { "id": "MONDO:0011517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011517", "name": "hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy", "description": "" }, { "id": "MIM:605115", "resource": "MIM", "url": "https://www.omim.org/entry/605115", "name": "Early-onset hypertension with severe exacerbation in pregnancy", "description": "Early-onset hypertension with severe exacerbation in pregnancy" } ], "evidence": [ { "id": "605115", "database": "MIM", "url": "https://www.omim.org/entry/605115" } ] } ], "snv": [ { "evidence": [ { "id": "rs1173902626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173902626" }, { "id": "rs1173902626", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173902626" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 116, "end_pos": 116, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "4", "chr_pos": "148436515", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08235", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08235" }, { "id": "rs141462272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141462272" }, { "id": "rs141462272", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141462272" }, { "id": "rs141462272", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141462272" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 127, "end_pos": 127, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SMS->NMS).", "chr_id": "4", "chr_pos": "148436481", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S127", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1211163833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211163833" }, { "id": "rs1211163833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211163833#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 160, "end_pos": 160, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTP->NTT).", "chr_id": "4", "chr_pos": "148436383", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868699545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868699545" }, { "id": "rs868699545", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868699545" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 296, "end_pos": 296, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "4", "chr_pos": "148435974", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S296", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs898426285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs898426285" }, { "id": "rs898426285", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs898426285" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 340, "end_pos": 340, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "4", "chr_pos": "148435843", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773237435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773237435" }, { "id": "rs773237435", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773237435" }, { "id": "rs773237435", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773237435#frequency_tab" }, { "id": "rs773237435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773237435" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 407, "end_pos": 407, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "4", "chr_pos": "148435641", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S407", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61760013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61760013" }, { "id": "rs61760013", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61760013#frequency_tab" }, { "id": "rs61760013", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61760013" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 43, "end_pos": 43, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYM->NYT).", "chr_id": "4", "chr_pos": "148436733", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M43", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08235", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08235" }, { "id": "rs1220830173", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220830173" }, { "id": "rs1220830173", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220830173" }, { "id": "rs1220830173", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1220830173#frequency_tab" }, { "id": "rs1220830173", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220830173" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 499, "end_pos": 499, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "4", "chr_pos": "148435366", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D499", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": 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"database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNSTQGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYEQQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAVVKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPNVENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSPANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVPSPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSDSSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYFSFMDDKDYYSLSGILGPPVPGFDGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHYRIGAQGTISLSRSARDQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPSKICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRLQKCLQAGMNLGARKSKKLGKLKGIHEEQPQQQQPPPPPPPPQSPEEGTTYIAPAKEPSVNTALVPQLSTISRALTPSPVMVLENIEPEIVYAGYDSSKPDTAENLLSTLNRLAGKQMIQVVKWAKVLPGFKNLPLEDQITLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKMHQSAMYELCQGMHQISLQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYIKELRKMVTKCPNNSGQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAMLVEIISDQLPKVESGNAKPLYFHRK", "length": 984, "header": "sp|P08235-1|MCR_HUMAN Isoform 1 of Mineralocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C2 PE=1 SV=2 CANONICAL=P08235-1" }, "isoforms": [ { "isoform_ac": "P08235-1", "url": "", "sequence": { "sequence": 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984, "header": "sp|P08235-1|MCR_HUMAN Isoform 1 of Mineralocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C2 PE=1 SV=2 CANONICAL=P08235-1" }, "locus": { "chromosome": "4", "start_pos": 148436860, "end_pos": 148081347, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000344721.8", "url": "https://www.ensembl.org/id/ENST00000344721.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000341390.4", "url": "https://www.ensembl.org/id/ENSP00000341390.4" } ] } }, { "isoform_ac": "P08235-2", "url": "", "sequence": { "sequence": "METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNSTQGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYEQQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAVVKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPNVENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSPANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVPSPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSDSSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYFSFMDDKDYYSLSGILGPPVPGFDGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHYRIGAQGTISLSRSARDQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPSKICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRLQKCLQAGMNLGERRCISLPCMNYARGCTKSAFSSFDCSSPLKNTPS", "length": 706, "header": "sp|P08235-2|MCR_HUMAN Isoform 2 of Mineralocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C2 PE=1 SV=2 CANONICAL=P08235-1" }, "locus": { "chromosome": "4", "start_pos": 148436860, "end_pos": 148120185, "strand": "+", "evidence": [ { "database": "Ensembl 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"length": 988, "header": "sp|P08235-3|MCR_HUMAN Isoform 3 of Mineralocorticoid receptor OS=Homo sapiens OX=9606 GN=NR3C2 PE=1 SV=2 CANONICAL=P08235-1" }, "locus": { "chromosome": "4", "start_pos": 148436860, "end_pos": 148081347, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000625323.2", "url": "https://www.ensembl.org/id/ENST00000625323.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486719.1", "url": "https://www.ensembl.org/id/ENSP00000486719.1" } ] } }, { "isoform_ac": "P08235-4", "url": "", "sequence": { "sequence": 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SV=2 CANONICAL=P08235-1" }, "locus": { "chromosome": "4", "start_pos": 148436860, "end_pos": 148081347, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512865.5", "url": "https://www.ensembl.org/id/ENST00000512865.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000423510.1", "url": "https://www.ensembl.org/id/ENSP00000423510.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 283, "start_aa": "Ser", "end_pos": 283, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser283", "evidence": [ { "id": "P08235", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08235" }, { "id": "36229526", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36229526" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 295, "start_aa": "Ser", "end_pos": 295, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser295", "evidence": [ { "id": "P08235", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08235" }, { "id": "36229526", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36229526" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 296, "start_aa": "Ser", "end_pos": 296, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser296", "evidence": [ { "id": "P08235", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08235" }, { "id": "36229526", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36229526" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 298, "start_aa": "Ser", "end_pos": 298, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser298", "evidence": [ { "id": "P08235", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08235" }, { "id": "36229526", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36229526" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 299, "start_aa": "Ser", "end_pos": 299, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser299", "evidence": [ { "id": "P08235", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08235" }, { "id": "36229526", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36229526" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [ { "start_pos": 111, "end_pos": 111, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08235" }, { "database": "PubMed", "id": "29127314", "url": "https://glygen.org/publication/PubMed/29127314" } ], "site_lbl": "Ser111" }, { "start_pos": 129, "end_pos": 129, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08235" }, { "database": "PubMed", "id": "20357208", "url": "https://glygen.org/publication/PubMed/20357208" } ], "site_lbl": "Ser129" }, { "start_pos": 159, "end_pos": 159, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08235" }, { "database": "PubMed", "id": "20357208", "url": "https://glygen.org/publication/PubMed/20357208" } ], "site_lbl": "Thr159" }, { "start_pos": 250, "end_pos": 250, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" }, { "database": "iPTMnet", "id": "P08235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08235" }, { "database": "PubMed", "id": "20357208", "url": "https://glygen.org/publication/PubMed/20357208" } ], "site_lbl": "Ser250" }, { "start_pos": 259, "end_pos": 259, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "site_lbl": "Ser259" }, { "start_pos": 283, "end_pos": 283, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "site_lbl": "Ser283" }, { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "site_lbl": "Ser287" }, { "start_pos": 299, "end_pos": 299, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "site_lbl": "Ser299" }, { "start_pos": 459, "end_pos": 459, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08235" }, { "database": "PubMed", "id": "29127314", "url": "https://glygen.org/publication/PubMed/29127314" } ], "site_lbl": "Ser459" }, { "start_pos": 735, "end_pos": 735, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08235" }, { "database": "PubMed", "id": "15456308", "url": "https://glygen.org/publication/PubMed/15456308" } ], "site_lbl": "Thr735" }, { "start_pos": 737, "end_pos": 737, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08235" }, { "database": "PubMed", "id": "15456308", "url": "https://glygen.org/publication/PubMed/15456308" } ], "site_lbl": "Ser737" }, { "start_pos": 843, "end_pos": 843, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08235" }, { "database": "PubMed", "id": "24206662", "url": "https://glygen.org/publication/PubMed/24206662" } ], "site_lbl": "Ser843" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.", "journal": "Nature genetics", "date": "1999", "authors": "Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "reference": [ { "type": "PubMed", "id": "10391210", "url": "https://glygen.org/publication/PubMed/10391210" } ] }, { "title": "Functional probing of the human glucocorticoid receptor steroid-interacting surface by site-directed mutagenesis. Gln-642 plays an important role in steroid recognition and binding.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Lind U, Greenidge P, Gillner M, Koehler KF, Wright A, Carlstedt-Duke J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371497", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371497" } ], "reference": [ { "type": "PubMed", "id": "10747884", "url": "https://glygen.org/publication/PubMed/10747884" } ] }, { "title": "Mechanistic aspects of mineralocorticoid receptor activation.", "journal": "Kidney international", "date": "2000", "authors": "Hellal-Levy C, Fagart J, Souque A, Rafestin-Oblin ME", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "reference": [ { "type": "PubMed", "id": "10760050", "url": "https://glygen.org/publication/PubMed/10760050" } ] }, { "title": "Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai FT, Sigler PB, Lifton RP", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "reference": [ { "type": "PubMed", "id": "10884226", "url": "https://glygen.org/publication/PubMed/10884226" } ] }, { "title": "Crucial role of the H11-H12 loop in stabilizing the active conformation of the human mineralocorticoid receptor.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2000", "authors": "Hellal-Levy C, Fagart J, Souque A, Wurtz JM, Moras D, Rafestin-Oblin ME", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "reference": [ { "type": "PubMed", "id": "10935545", "url": "https://glygen.org/publication/PubMed/10935545" } ] }, { "title": "Covalent modification of the androgen receptor by small ubiquitin-like modifier 1 (SUMO-1).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Poukka H, Karvonen U, Janne OA, Palvimo JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "11121022", "url": "https://glygen.org/publication/PubMed/11121022" } ] }, { "title": "A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2000", "authors": "Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "reference": [ { "type": "PubMed", "id": "11134129", "url": "https://glygen.org/publication/PubMed/11134129" } ] }, { "title": "The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Odermatt A, Arnold P, Frey F J", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "reference": [ { "type": "PubMed", "id": "11350956", "url": "https://glygen.org/publication/PubMed/11350956" } ] }, { "title": "A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2001", "authors": "Zennaro MC, Souque A, Viengchareun S, Poisson E, Lombes M", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "reference": [ { "type": "PubMed", "id": "11518808", "url": "https://glygen.org/publication/PubMed/11518808" } ] }, { "title": "A review of the chemistry, biological action, and clinical applications of anabolic-androgenic steroids.", "journal": "Clinical therapeutics", "date": "2001", "authors": "Shahidi NT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371497", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371497" } ], "reference": [ { "type": "PubMed", "id": "11589254", "url": "https://glygen.org/publication/PubMed/11589254" } ] }, { "title": "Clinical review 138: Anabolic-androgenic steroid therapy in the treatment of chronic diseases.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Basaria S, Wahlstrom JT, Dobs AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371497", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371497" } ], "reference": [ { "type": "PubMed", "id": "11701661", "url": "https://glygen.org/publication/PubMed/11701661" } ] }, { "title": "A new first step in activation of steroid receptors: hormone-induced switching of FKBP51 and FKBP52 immunophilins.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Davies TH, Ning YM, Sanchez ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371497", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371497" } ], "reference": [ { "type": "PubMed", "id": "11751894", "url": "https://glygen.org/publication/PubMed/11751894" } ] }, { "title": "PIAS proteins modulate transcription factors by functioning as SUMO-1 ligases.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Kotaja N, Karvonen U, Janne OA, Palvimo JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "12077349", "url": "https://glygen.org/publication/PubMed/12077349" } ] }, { "title": "Small ubiquitin-related modifier-1 (SUMO-1) modification of the glucocorticoid receptor.", "journal": "The Biochemical journal", "date": "2002", "authors": "Tian S, Poukka H, Palvimo JJ, Janne OA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "12144530", "url": "https://glygen.org/publication/PubMed/12144530" } ] }, { "title": "PIAS1 and PIASxalpha function as SUMO-E3 ligases toward androgen receptor and repress androgen receptor-dependent transcription.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nishida T, Yasuda H", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "12177000", "url": "https://glygen.org/publication/PubMed/12177000" } ] }, { "title": "Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism.", "journal": "Human genetics", "date": "2003", "authors": "Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, Shibasaki T", "evidence": [ { "database": "UniProtKB", "id": "P08235", "url": "https://www.uniprot.org/uniprot/P08235" } ], "reference": [ { "type": "PubMed", "id": "12483305", "url": "https://glygen.org/publication/PubMed/12483305" } ] }, { "title": "Synthesis and biological activity of 5-methylidene 1,2-dihydrochromeno[3,4-f]quinoline derivatives as progesterone receptor modulators.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2003", "authors": "Zhi L, Tegley CM, Pio B, Edwards JP, Jones TK, Marschke KB, Mais DE, Risek B, Schrader WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371497", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371497" } ], "reference": [ { "type": "PubMed", "id": "12781197", "url": "https://glygen.org/publication/PubMed/12781197" } ] }, { "title": "Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2003", 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