{ "uniprot_canonical_ac": "P13056-1", "uniprot_ac": "P13056", "uniprot_id": "NR2C1_HUMAN", "mass": { "chemical_mass": 67315.0, "monoisotopic_mass": 67315.0 }, "refseq": { "ac": "NP_001027458", "name": "nuclear receptor subfamily 2 group C member 1 isoform b", "summary": "This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027458" }, "gene_names": [ { "name": "NR2C1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13056", "id": "P13056" }, { "name": "NR2C1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027458", "id": "NP_001027458" }, { "name": "TR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027458", "id": "NP_001027458" }, { "name": "TR2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13056", "id": "P13056" } ], "protein_names": [ { "name": "Nuclear receptor subfamily 2 group C member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13056" }, { "name": "Orphan nuclear receptor TR2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13056" }, { "name": "TR2 nuclear hormone receptor; orphan nuclear receptor TR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027458", "id": "NP_001027458" }, { "name": "Testicular receptor 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13056" }, { "name": "nuclear receptor subfamily 2 group C member 1 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027458", "id": "NP_001027458" } ], "function": [ { "annotation": "NamiRNA-enhancer network of miR-492 activates the NR2C1-TGF-beta/Smad3 pathway to promote epithelial-mesenchymal transition of pancreatic cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001027458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027458" }, { "database": "PubMed", "id": "36591938", "url": "https://glygen.org/publication/PubMed/36591938" } ] }, { "annotation": "Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. Primarily repressor of a broad range of genes. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Together with NR2C2, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Also activator of OCT4 gene expression. May be involved in stem cell proliferation and differentiation. Mediator of retinoic acid-regulated preadipocyte proliferation.", "evidence": [ { "database": "UniProtKB", "id": "P13056", "url": "https://www.uniprot.org/uniprot/P13056#function" }, { "database": "PubMed", "id": "17010934", "url": "https://glygen.org/publication/PubMed/17010934" }, { "database": "PubMed", "id": "12093804", "url": "https://glygen.org/publication/PubMed/12093804" } ] }, { "annotation": "This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001027458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027458" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs369087077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369087077" }, { "id": "rs369087077", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369087077" }, { "id": "rs369087077", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369087077#frequency_tab" }, { "id": "rs369087077", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369087077" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 227, "end_pos": 227, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "12", "chr_pos": "95057743", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P13056", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13056" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 305, "end_pos": 305, "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 (DTS->NTS).", "chr_id": "12", "chr_pos": "95051814", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D305", "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": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs370279266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370279266" }, { "id": "rs370279266", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs370279266" }, { "id": "rs370279266", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370279266" }, { "id": "rs370279266", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370279266#frequency_tab" }, { "id": "rs370279266", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370279266" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 50, "end_pos": 50, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "12", "chr_pos": "95062645", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000599", "site_lbl": "D50", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1364327307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364327307" }, { "id": "rs1364327307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364327307" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 99, "end_pos": 99, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "12", "chr_pos": "95059975", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D99", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "80.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "67.45", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "68.28", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P13056", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13056" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "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, 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": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P13056", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13056" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P13056", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13056" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P13056", "url": "https://www.uniprot.org/uniprot/P13056" } ], "common_name": "Human" } ], "gene": [ { "name": "NR2C1", "url": "https://www.uniprot.org/uniprot/P13056", "locus": { "chromosome": "12", "start_pos": 95020229, "end_pos": 95073628, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000120798", "url": "https://www.ensembl.org/id/ENSG00000120798" } ] } } ], "crossref": [ { "id": "ENSG00000120798", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120798", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P13056", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13056", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd06952", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06952", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd06967", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06967", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL1961787", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1961787", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "NR2C1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR2C1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "7181", "url": "https://www.ncbi.nlm.nih.gov/gene/7181", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "7971", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7971", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P13056", "url": "https://www.ebi.ac.uk/intact/interactors/id:P13056*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000536", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000536", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001628", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001628", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001723", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001723", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013088", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013088", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035500", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035500", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048245", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048245", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048246", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048246", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7181", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7181", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "601529", "url": "http://www.omim.org/entry/601529", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P13056", "url": "https://www.nextprot.org/entry/NX_P13056", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P13056", "url": "https://oglcnac.org/atlas/detail/P13056", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P13056", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13056", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "RKPIEMS", "url": "https://omabrowser.org/oma/group/RKPIEMS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5400963at2759", "url": "http://www.orthodb.org/?query=5400963at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24083", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24083", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24083:SF49", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24083:SF49", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00104", "url": "http://pfam.xfam.org/family/PF00104", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00105", "url": "http://pfam.xfam.org/family/PF00105", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P13056", "url": "https://pharos.nih.gov/targets/P13056", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P13056", "url": "http://purl.obolibrary.org/obo/PR_P13056", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001027458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027458", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WUK4", "url": "https://www.uniprot.org/uniprot/A0A087WUK4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WUK4-1", "url": "https://www.uniprot.org/uniprot/A0A087WUK4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W1Q1", "url": "https://www.uniprot.org/uniprot/F8W1Q1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W1Q1-1", "url": "https://www.uniprot.org/uniprot/F8W1Q1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YHC6", "url": "https://www.uniprot.org/uniprot/H0YHC6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YHC6-1", "url": "https://www.uniprot.org/uniprot/H0YHC6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIV1", "url": "https://www.uniprot.org/uniprot/H0YIV1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIV1-1", "url": "https://www.uniprot.org/uniprot/H0YIV1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13056", "url": "https://www.uniprot.org/uniprot/P13056", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13056-1", "url": "https://www.uniprot.org/uniprot/P13056-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13056-2", "url": "https://www.uniprot.org/uniprot/P13056-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13056-3", "url": "https://www.uniprot.org/uniprot/P13056-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MATIEEIAHQIIEQQMGEIVTEQQTGQKIQIVTALDHNTQGKQFILTNHDGSTPSKVILARQDSTPGKVFLTTPDAAGVNQLFFTTPDLSAQHLQLLTDNSPDQGPNKVFDLCVVCGDKASGRHYGAVTCEGCKGFFKRSIRKNLVYSCRGSKDCIINKHHRNRCQYCRLQRCIAFGMKQDSVQCERKPIEVSREKSSNCAASTEKIYIRKDLRSPLTATPTFVTDSESTRSTGLLDSGMFMNIHPSGVKTESAVLMTSDKAESCQGDLSTLANVVTSLANLGKTKDLSQNSNEMSMIESLSNDDTSLCEFQEMQTNGDVSRAFDTLAKALNPGESTACQSSVAGMEGSVHLITGDSSINYTEKEGPLLSDSHVAFRLTMPSPMPEYLNVHYIGESASRLLFLSMHWALSIPSFQALGQENSISLVKAYWNELFTLGLAQCWQVMNVATILATFVNCLHNSLQQDKMSTERRKLLMEHIFKLQEFCNSMVKLCIDGYEYAYLKAIVLFSPDHPSLENMEQIEKFQEKAYVEFQDYITKTYPDDTYRLSRLLLRLPALRLMNATITEELFFKGLIGNIRIDSVIPHILKMEPADYNSQIIGHSI", "length": 603, "header": "sp|P13056-1|NR2C1_HUMAN Isoform 1 of Nuclear receptor subfamily 2 group C member 1 OS=Homo sapiens OX=9606 GN=NR2C1 PE=1 SV=2 CANONICAL=P13056-1" }, "isoforms": [ { "isoform_ac": "A0A087WUK4-1", "url": "", "sequence": { "sequence": "MATIEEIAHQIIEQQMGEIVTEQQTGQKIQIVTALDHNTQGKQFILTNHDGSTPSKVILARQDSTPGKVFLTTPDAAGVNQLFFTTPDLSAQHLQLLTDNSPDQGPNKVFDLCVVCGDKASGRHYGAVTCEGCKGFFKRSIRKNLVYSCRGSKDCIINKHHRNRCQYCRLQRCIAFGMKQDSVQCERKPIEVSREKSSNCAASTEKIYIRKDLRSPLTATPTFVTDSESTRSTGLLDSGMFMNIHPSGVKTESAVLMTSDKAESCQGDLSTLANVVTSLANLGKTKDLSQNSNEMSMIESLSNDDTSLCEFQEMQTNGDVSRAFDTLAKALNPGESTACQSSVAGMEGSVHLITGDSSINYTEKEGPLLSDSHVAFRLTMPSPMPEYLNVHYIGESASRLLFLSMHWALSIPSFQALGKKKIIDGAHLQTTGVL", "length": 434, "header": "tr|A0A087WUK4-1|A0A087WUK4_HUMAN Computationally mapped isoform of Nuclear receptor subfamily 2 group C member 1 OS=Homo sapiens OX=9606 GN=NR2C1 PE=1 SV=1 CANONICAL=P13056-1" }, "locus": { "chromosome": "12", "start_pos": 95067384, "end_pos": 95028461, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622476.4", "url": "https://www.ensembl.org/id/ENST00000622476.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000478728.1", "url": "https://www.ensembl.org/id/ENSP00000478728.1" } ] } }, { "isoform_ac": "F8W1Q1-1", "url": "", "sequence": { "sequence": "MATIEEIAHQIIEQQM", "length": 16, "header": "tr|F8W1Q1-1|NR2C1_HUMAN Computationally mapped isoform of Nuclear receptor subfamily 2 group C member 1 OS=Homo sapiens OX=9606 GN=NR2C1 PE=1 SV=1 CANONICAL=P13056-1" }, "locus": { "chromosome": "12", "start_pos": 95067384, "end_pos": 95067337, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547469.1", "url": "https://www.ensembl.org/id/ENST00000547469.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446906.1", "url": "https://www.ensembl.org/id/ENSP00000446906.1" } ] } }, { "isoform_ac": "H0YHC6-1", "url": "", "sequence": { "sequence": "XDLSQNSNEMSMIESLSNDDTSLCEFQEMQTNGDVSSSPCLLLCLST", "length": 47, "header": "tr|H0YHC6-1|H0YHC6_HUMAN Computationally mapped isoform of Nuclear receptor subfamily 2 group C member 1 OS=Homo sapiens OX=9606 GN=NR2C1 PE=4 SV=1 CANONICAL=P13056-1" }, "locus": { "chromosome": "12", "start_pos": 95051869, "end_pos": 95040565, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552791.1", "url": "https://www.ensembl.org/id/ENST00000552791.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446817.1", "url": "https://www.ensembl.org/id/ENSP00000446817.1" } ] } }, { "isoform_ac": "H0YIV1-1", "url": "", "sequence": { "sequence": "XLTMPSPMPEYLNVHYIGESASRLLFLSMHWALSIPSFQALGSSKPRKHGTDREISGKGLCGIPRLYNQNISR", "length": 73, "header": "tr|H0YIV1-1|H0YIV1_HUMAN Computationally mapped isoform of Nuclear receptor subfamily 2 group C member 1 OS=Homo sapiens OX=9606 GN=NR2C1 PE=1 SV=1 CANONICAL=P13056-1" }, "locus": { "chromosome": "12", "start_pos": 95040598, "end_pos": 95025160, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551647.5", "url": "https://www.ensembl.org/id/ENST00000551647.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450225.1", "url": "https://www.ensembl.org/id/ENSP00000450225.1" } ] } }, { "isoform_ac": "P13056-1", "url": "", "sequence": { "sequence": "MATIEEIAHQIIEQQMGEIVTEQQTGQKIQIVTALDHNTQGKQFILTNHDGSTPSKVILARQDSTPGKVFLTTPDAAGVNQLFFTTPDLSAQHLQLLTDNSPDQGPNKVFDLCVVCGDKASGRHYGAVTCEGCKGFFKRSIRKNLVYSCRGSKDCIINKHHRNRCQYCRLQRCIAFGMKQDSVQCERKPIEVSREKSSNCAASTEKIYIRKDLRSPLTATPTFVTDSESTRSTGLLDSGMFMNIHPSGVKTESAVLMTSDKAESCQGDLSTLANVVTSLANLGKTKDLSQNSNEMSMIESLSNDDTSLCEFQEMQTNGDVSRAFDTLAKALNPGESTACQSSVAGMEGSVHLITGDSSINYTEKEGPLLSDSHVAFRLTMPSPMPEYLNVHYIGESASRLLFLSMHWALSIPSFQALGQENSISLVKAYWNELFTLGLAQCWQVMNVATILATFVNCLHNSLQQDKMSTERRKLLMEHIFKLQEFCNSMVKLCIDGYEYAYLKAIVLFSPDHPSLENMEQIEKFQEKAYVEFQDYITKTYPDDTYRLSRLLLRLPALRLMNATITEELFFKGLIGNIRIDSVIPHILKMEPADYNSQIIGHSI", "length": 603, "header": "sp|P13056-1|NR2C1_HUMAN Isoform 1 of Nuclear receptor subfamily 2 group C member 1 OS=Homo sapiens OX=9606 GN=NR2C1 PE=1 SV=2 CANONICAL=P13056-1" }, "locus": { "chromosome": "12", "start_pos": 95067384, "end_pos": 95022232, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000333003.10", "url": "https://www.ensembl.org/id/ENST00000333003.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000333275.4", "url": "https://www.ensembl.org/id/ENSP00000333275.4" } ] } }, { "isoform_ac": "P13056-2", "url": "", "sequence": { "sequence": "MATIEEIAHQIIEQQMGEIVTEQQTGQKIQIVTALDHNTQGKQFILTNHDGSTPSKVILARQDSTPGKVFLTTPDAAGVNQLFFTTPDLSAQHLQLLTDNSPDQGPNKVFDLCVVCGDKASGRHYGAVTCEGCKGFFKRSIRKNLVYSCRGSKDCIINKHHRNRCQYCRLQRCIAFGMKQDSVQCERKPIEVSREKSSNCAASTEKIYIRKDLRSPLTATPTFVTDSESTRSTGLLDSGMFMNIHPSGVKTESAVLMTSDKAESCQGDLSTLANVVTSLANLGKTKDLSQNSNEMSMIESLSNDDTSLCEFQEMQTNGDVSRAFDTLAKALNPGESTACQSSVAGMEGSVHLITGDSSINYTEKEGPLLSDSHVAFRLTMPSPMPEYLNVHYIGESASRLLFLSMHWALSIPSFQALGQENSISLVKAYWNELFTLGLAQCWQVMNVATILATFVNCLHNSLQQAEG", "length": 467, "header": "sp|P13056-2|NR2C1_HUMAN Isoform 2 of Nuclear receptor subfamily 2 group C member 1 OS=Homo sapiens OX=9606 GN=NR2C1 PE=1 SV=2 CANONICAL=P13056-1" }, "locus": { "chromosome": "12", "start_pos": 95067384, "end_pos": 95030622, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393101.7", "url": "https://www.ensembl.org/id/ENST00000393101.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000376813.3", "url": "https://www.ensembl.org/id/ENSP00000376813.3" } ] } }, { "isoform_ac": "P13056-3", "url": "", "sequence": { "sequence": "MATIEEIAHQIIEQQMGEIVTEQQTGQKIQIVTALDHNTQGKQFILTNHDGSTPSKVILARQDSTPGKVFLTTPDAAGVNQLFFTTPDLSAQHLQLLTDNSPDQGPNKVFDLCVVCGDKASGRHYGAVTCEGCKGFFKRSIRKNLVYSCRGSKDCIINKHHRNRCQYCRLQRCIAFGMKQDSVQCERKPIEVSREKSSNCAASTEKIYIRKDLRSPLTATPTFVTDSESTRSTGLLDSGMFMNIHPSGVKTESAVLMTSDKAESCQGDLSTLANVVTSLANLGKTKDLSQNSNEMSMIESLSNDDTSLCEFQEMQTNGDVSRAFDTLAKALNPGESTACQSSVAGMEGSVHLITGDSSINYTEKEGPLLSDSHVAFRLTMPSPMPEYLNVHYIGESASRLLFLSMHWALSIPSFQALGQENSISLVKAYWNELFTLGLAQCWQVMNVATILATFVNCLHNSLQQDAKVIAALIHFTRRAITDL", "length": 483, "header": "sp|P13056-3|NR2C1_HUMAN Isoform 3 of Nuclear receptor subfamily 2 group C member 1 OS=Homo sapiens OX=9606 GN=NR2C1 PE=1 SV=2 CANONICAL=P13056-1" }, "locus": { "chromosome": "12", "start_pos": 95067384, "end_pos": 95030818, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000330677.7", "url": "https://www.ensembl.org/id/ENST00000330677.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000328843.7", "url": "https://www.ensembl.org/id/ENSP00000328843.7" } ] } } ], "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": 148, "start_aa": "Ser", "end_pos": 148, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser148", "evidence": [ { "id": "P13056", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13056" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "P13056", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P13056" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 581, "start_aa": "Ser", "end_pos": 581, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser581", "evidence": [ { "id": "P13056", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13056" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "P13056", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P13056" } ] } ], "phosphorylation": [ { "start_pos": 197, "end_pos": 197, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13056", "url": "https://www.uniprot.org/uniprot/P13056" } ], "site_lbl": "Ser197" }, { "start_pos": 215, "end_pos": 215, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P13056", "url": "https://www.uniprot.org/uniprot/P13056" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P13056", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13056" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "phospho.ELM", "id": "P13056", "url": "http://phospho.elm.eu.org/byAccession/P13056.html" } ], "site_lbl": "Ser215" }, { "start_pos": 218, "end_pos": 218, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13056", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13056" }, { "database": 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nuclear receptors requires the DRIP complex.", "journal": "Nature", "date": "1999", "authors": "Rachez C, Lemon BD, Suldan Z, Bromleigh V, Gamble M, Naar AM, Erdjument-Bromage H, Tempst P, Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10235266", "url": "https://glygen.org/publication/PubMed/10235266" } ] }, { "title": "Multimeric Coactivator Complexes for Steroid/Nuclear Receptors.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "1999", "authors": "Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10542397", "url": "https://glygen.org/publication/PubMed/10542397" } ] }, { "title": "Covalent modification of the androgen receptor by small ubiquitin-like modifier 1 (SUMO-1).", "journal": 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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": "Suppression of estrogen receptor-mediated transcription and cell growth by interaction with TR2 orphan receptor.", "journal": "The Journal of biological chemistry", "date": "2002-09-13", "authors": "Hu Yueh-Chiang, Shyr Chih-Rong, Che Wenyi, Mu Xiao-Min, Kim Eungseok, Chang Chawnshang", "evidence": [ { "database": "UniProtKB", "id": "P13056", "url": "https://www.uniprot.org/uniprot/P13056" } ], "reference": [ { "type": "PubMed", "id": "12093804", "url": "https://glygen.org/publication/PubMed/12093804" } ] }, { "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": "Protein inhibitor of activated signal transducer and activator of transcription 1 interacts with the N-terminal domain of mineralocorticoid receptor and represses its transcriptional activity: implication of small ubiquitin-related modifier 1 modification.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2003", "authors": "Tallec LP, Kirsh O, Lecomte MC, Viengchareun S, Zennaro MC, Dejean A, Lombes M", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "14500761", "url": "https://glygen.org/publication/PubMed/14500761" } ] }, { "title": "A unified nomenclature for protein subunits of mediator complexes linking transcriptional regulators to RNA polymerase II.", "journal": "Molecular cell", "date": "2004", "authors": "Bourbon HM, Aguilera A, Ansari AZ, Asturias FJ, Berk AJ, Bjorklund S, Blackwell TK, Borggrefe T, Carey M, Carlson M, Conaway JW, Conaway RC, Emmons SW, Fondell JD, Freedman LP, Fukasawa T, Gustafsson CM, Han M, He X, Herman PK, Hinnebusch AG, Holmberg S, Holstege FC, Jaehning JA, Kim YJ, Kuras L, Leutz A, Lis JT, Meisterernest M, Naar AM, Nasmyth K, Parvin JD, Ptashne M, Reinberg D, Ronne H, Sadowski I, Sakurai H, Sipiczki M, Sternberg PW, Stillman DJ, Strich R, Struhl K, Svejstrup JQ, Tuck S, Winston F, Roeder RG, Kornberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "15175151", "url": "https://glygen.org/publication/PubMed/15175151" } ] }, { "title": "Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2004", "authors": "Komatsu T, Mizusaki H, Mukai T, Ogawa H, Baba D, Shirakawa M, Hatakeyama S, Nakayama KI, Yamamoto H, Kikuchi A, Morohashi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "15192080", "url": "https://glygen.org/publication/PubMed/15192080" } ] }, { "title": "SUMO modification of repression domains modulates function of nuclear receptor 5A1 (steroidogenic factor-1).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Chen WY, Lee WC, Hsu NC, Huang F, Chung BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "15192092", "url": "https://glygen.org/publication/PubMed/15192092" } ] }, { "title": "Dynamic regulation of pol II transcription by the mammalian Mediator complex.", "journal": "Trends in biochemical sciences", "date": "2005", "authors": "Malik S, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "15896744", "url": 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"evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "17218271", "url": "https://glygen.org/publication/PubMed/17218271" } ] }, { "title": "Sumoylation and proteasomal activity determine the transactivation properties of the mineralocorticoid receptor.", "journal": "Molecular and cellular endocrinology", "date": "2007", "authors": "Tirard M, Almeida OF, Hutzler P, Melchior F, Michaelidis TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "17314004", "url": "https://glygen.org/publication/PubMed/17314004" } ] }, { "title": "Phosphorylation-dependent antagonism of sumoylation derepresses progesterone receptor action in breast cancer cells.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007", "authors": "Daniel AR, Faivre EJ, Lange CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "17717077", "url": "https://glygen.org/publication/PubMed/17717077" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P13056-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13056-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { 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"date": "2009", "authors": "Abdel-Hafiz H, Dudevoir ML, Horwitz KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "19211567", "url": "https://glygen.org/publication/PubMed/19211567" } ] }, { "title": "Transcriptional Suppression by Transient Recruitment of ARIP4 to Sumoylated nuclear receptor Ad4BP/SF-1.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Ogawa H, Komatsu T, Hiraoka Y, Morohashi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "19692572", "url": "https://glygen.org/publication/PubMed/19692572" } ] }, { "title": "Small ubiquitin-like modifier-2 modification of retinoic acid receptor-alpha regulates its subcellular localization and transcriptional activity.", "journal": "Endocrinology", "date": "2009", "authors": "Zhu L, Santos NC, Kim KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "19850744", "url": "https://glygen.org/publication/PubMed/19850744" } ] }, { "title": "The bile acid receptor FXR is a modulator of intestinal innate immunity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2009", "authors": "Vavassori P, Mencarelli A, Renga B, Distrutti E, Fiorucci S", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "19864602", "url": "https://glygen.org/publication/PubMed/19864602" } ] }, { "title": "SUMOylation of human peroxisome proliferator-activated receptor alpha inhibits its trans-activity through the recruitment of the nuclear corepressor NCoR.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Pourcet B, Pineda-Torra I, Derudas B, Staels B, Glineur C", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "19955185", "url": "https://glygen.org/publication/PubMed/19955185" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P13056-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13056-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "GPS2-dependent corepressor/SUMO pathways govern anti-inflammatory actions of LRH-1 and LXRbeta in the hepatic acute phase response.", "journal": "Genes & development", "date": "2010", "authors": "Venteclef N, Jakobsson T, Ehrlund A, Damdimopoulos A, Mikkonen L, Ellis E, Nilsson LM, Parini P, Janne OA, Gustafsson JA, Steffensen KR, Treuter E", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "20159957", "url": "https://glygen.org/publication/PubMed/20159957" } ] }, { "title": "Pregnane X receptor is SUMOylated to repress the inflammatory response.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2010", "authors": "Hu G, Xu C, Staudinger JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-4090294", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4090294" } ], "reference": [ { "type": "PubMed", "id": "20719936", "url": "https://glygen.org/publication/PubMed/20719936" } ] }, { "title": "Coactivation of SF-1-mediated 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