{ "uniprot_canonical_ac": "O60216-1", "uniprot_ac": "O60216", "uniprot_id": "RAD21_HUMAN", "mass": { "chemical_mass": 71690.0, "monoisotopic_mass": 71690.0 }, "refseq": { "ac": "NP_006256", "name": "double-strand-break repair protein rad21 homolog", "summary": "The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006256" }, "gene_names": [ { "name": "RAD21", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60216", "id": "O60216" }, { "name": "CDLS4; hHR21; HR21; HRAD21; MCD1; MGS; NXP1; SCC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006256", "id": "NP_006256" }, { "name": "HR21", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60216", "id": "O60216" }, { "name": "KIAA0078", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60216", "id": "O60216" }, { "name": "NXP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60216", "id": "O60216" }, { "name": "RAD21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006256", "id": "NP_006256" }, { "name": "SCC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60216", "id": "O60216" } ], "protein_names": [ { "name": "Double-strand-break repair protein rad21 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60216" }, { "name": "64-kDa carboxy-terminal product", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60216" }, { "name": "65-kDa carboxy-terminal product", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60216" }, { "name": "NXP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60216" }, { "name": "Nuclear matrix protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60216" }, { "name": "SCC1 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60216" }, { "name": "double-strand-break repair protein rad21 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006256", "id": "NP_006256" }, { "name": "hHR21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60216" }, { "name": "protein involved in DNA double-strand break repair; nuclear matrix protein 1; NXP-1; SCC1 homolog; sister chromatid cohesion 1; RAD21 homolog; kleisin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006256", "id": "NP_006256" } ], "function": [ { "annotation": "As a member of the cohesin complex, involved in sister chromatid cohesion from the time of DNA replication in S phase to their segregation in mitosis, a function that is essential for proper chromosome segregation, post-replicative DNA repair, and the prevention of inappropriate recombination between repetitive regions (PubMed:11509732). The cohesin complex may also play a role in spindle pole assembly during mitosis (PubMed:11590136). In interphase, cohesins may function in the control of gene expression by binding to numerous sites within the genome (By similarity). May control RUNX1 gene expression (Probable). Binds to and represses APOB gene promoter (PubMed:25575569). May play a role in embryonic gut development, possibly through the regulation of enteric neuron development (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216#function" }, { "database": "PubMed", "id": "11509732", "url": "https://glygen.org/publication/PubMed/11509732" }, { "database": "UniProtKB", "id": "Q61550", "url": "https://www.uniprot.org/uniprot/Q61550#function" }, { "database": "PubMed", "id": "11590136", "url": "https://glygen.org/publication/PubMed/11590136" }, { "database": "PubMed", "id": "25575569", "url": "https://glygen.org/publication/PubMed/25575569" }, { "database": "UniProtKB", "id": "Q6TEL1", "url": "https://www.uniprot.org/uniprot/Q6TEL1#function" } ] }, { "annotation": "Genetic variation as a long-distance modulator of RAD21 expression in humans. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006256", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006256" }, { "database": "PubMed", "id": "35906355", "url": "https://glygen.org/publication/PubMed/35906355" } ] }, { "annotation": "Interference with XPO1 Suppresses the Stemness and Radioresistance of CD44 Positive Cervical Cancer Cells via Binding with Rad21.", "evidence": [ { "database": "RefSeq", "id": "NP_006256", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006256" }, { "database": "PubMed", "id": "37094850", "url": "https://glygen.org/publication/PubMed/37094850" } ] }, { "annotation": "May promote apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216#function" }, { "database": "PubMed", "id": "12417729", "url": "https://glygen.org/publication/PubMed/12417729" }, { "database": "PubMed", "id": "11875078", "url": "https://glygen.org/publication/PubMed/11875078" } ] }, { "annotation": "RAD21 is the core subunit of the cohesin complex involved in directing genome organization. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006256", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006256" }, { "database": "PubMed", "id": "37381036", "url": "https://glygen.org/publication/PubMed/37381036" } ] }, { "annotation": "The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006256", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006256" } ] } ], "disease": [ { "disease_id": "DOID:0080508", "recommended_name": { "id": "DOID:0080508", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080508", "name": "Cornelia de Lange syndrome 4", "description": "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24." }, "synonyms": [ { "id": "DOID:0080508", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080508", "name": "CDLS4", "description": "" }, { "id": "DOID:0080508", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080508", "name": "Cornelia De Lange syndrome 4 with or without midline brain defects", "description": "" }, { "id": "MONDO:0013864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013864", "name": "Cornelia de Lange syndrome 4", "description": "Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene." }, { "id": "MONDO:0013864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013864", "name": "Cornelia De Lange syndrome type 4", "description": "" }, { "id": "MONDO:0013864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013864", "name": "Cornelia de Lange syndrome 4", "description": "" }, { "id": "MONDO:0013864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013864", "name": "Cornelia de Lange syndrome caused by mutation in RAD21", "description": "" }, { "id": "MONDO:0013864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013864", "name": "RAD21 Cornelia de Lange syndrome", "description": "" }, { "id": "MONDO:0013864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013864", "name": "CDLS4", "description": "" }, { "id": "MONDO:0013864", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013864", "name": "Cornelia DE Lange syndrome 4", "description": "" }, { "id": "MIM:614701", "resource": "MIM", "url": "https://www.omim.org/entry/614701", "name": "Cornelia de Lange syndrome 4 with or without midline brain defects", "description": "Cornelia de Lange syndrome 4 with or without midline brain defects" } ], "evidence": [ { "id": "614701", "database": "MIM", "url": "https://www.omim.org/entry/614701" } ] }, { "disease_id": "MONDO:0012657", "recommended_name": { "id": "MONDO:0012657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012657", "name": "Mungan syndrome", "description": "" }, "synonyms": [ { "id": "MONDO:0012657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012657", "name": "MGS", "description": "" }, { "id": "MONDO:0012657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012657", "name": "MUNGAN syndrome", "description": "" }, { "id": "MONDO:0012657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012657", "name": "pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities", "description": "" }, { "id": "MONDO:0012657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012657", "name": "pseudoobstruction chronic idiopathic intestinal with Barrett oesophagus and cardiac abnormalities", "description": "" }, { "id": "MONDO:0012657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012657", "name": "pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities", "description": "" }, { "id": "MONDO:0012657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012657", "name": "pseudoobstruction, chronic idiopathic intestinal, with Barrett oesophagus and Cardiac abnormalities", "description": "" }, { "id": "MONDO:0012657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012657", "name": "visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities", "description": "" }, { "id": "MONDO:0012657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012657", "name": "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities", "description": "" }, { "id": "MONDO:0012657", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012657", "name": "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett oesophagus and cardiac abnormalities", "description": "" }, { "id": "MIM:611376", "resource": "MIM", "url": "https://www.omim.org/entry/611376", "name": "Mungan syndrome", "description": "Mungan syndrome" } ], "evidence": [ { "id": "611376", "database": "MIM", "url": "https://www.omim.org/entry/611376" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 126, "end_pos": 282, "sequence_org": "DIDVAQQFSLNQSRVEEITMREEVGNISILQENDFGDFGMDDREIMREGSAFEDDDMLVSTTTSNLLLESEQSTSNLNEKINHLEYEDQYKDDNFGEGNDGGILDDKLISNNDGGIFDDPPALSEAGVMLPEQPAHDDMDEDDNVSMGGPDSPDSVD", "sequence_mut": "", "comment": "Abolishes binding to SMARCA5.", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216" }, { "database": "PubMed", "id": "12198550", "url": "https://glygen.org/publication/PubMed/12198550" } ] }, { "start_pos": 172, "end_pos": 172, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes first cleavage by ESPL1, no effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216" }, { "database": "PubMed", "id": "11509732", "url": "https://glygen.org/publication/PubMed/11509732" } ] }, { "start_pos": 1, "end_pos": 126, "sequence_org": "MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRKAKYLLADCNEAFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQPLPDLDD", "sequence_mut": "", "comment": "Abolishes interaction with SMC1.", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216" }, { "database": "PubMed", "id": "12198550", "url": "https://glygen.org/publication/PubMed/12198550" } ] }, { "start_pos": 276, "end_pos": 280, "sequence_org": "DSPDS", "sequence_mut": "AAPAA", "comment": "Loss of cleavage by caspase-3 or caspase-7.", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216" }, { "database": "PubMed", "id": "12417729", "url": "https://glygen.org/publication/PubMed/12417729" } ] }, { "start_pos": 279, "end_pos": 279, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of cleavage by caspase-3 or caspase-7.", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216" }, { "database": "PubMed", "id": "12417729", "url": "https://glygen.org/publication/PubMed/12417729" }, { "database": "PubMed", "id": "11875078", "url": "https://glygen.org/publication/PubMed/11875078" } ] }, { "start_pos": 279, "end_pos": 279, "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of cleavage by caspase-3 or caspase-7.", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216" }, { "database": "PubMed", "id": "12417729", "url": "https://glygen.org/publication/PubMed/12417729" }, { "database": "PubMed", "id": "11875078", "url": "https://glygen.org/publication/PubMed/11875078" } ] }, { "start_pos": 282, "end_pos": 282, "sequence_org": "D", "sequence_mut": "E", "comment": "No effect on cleavage by caspase-3 or caspase-7.", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216" }, { "database": "PubMed", "id": "11875078", "url": "https://glygen.org/publication/PubMed/11875078" } ] }, { "start_pos": 450, "end_pos": 450, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes second cleavage by ESPL1, no effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216" }, { "database": "PubMed", "id": "11509732", "url": "https://glygen.org/publication/PubMed/11509732" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "97.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "91.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "92.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "97.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "96.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60216" } ], "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": "O60216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60216" } ], "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 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60216", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60216" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216" } ], "common_name": "Human" } ], "gene": [ { "name": "RAD21", "url": "https://www.uniprot.org/uniprot/O60216", "locus": { "chromosome": "8", "start_pos": 33933, "end_pos": 5001, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_772", "url": "https://www.ensembl.org/id/LRG_772" } ] } } ], "crossref": [ { "id": "ENSG00000164754", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164754", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd21792", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd21792", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "RAD21", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RAD21", "database": "GeneCards", "categories": [ "Gene 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"https://www.uniprot.org/uniprot/E5RFV8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RG18", "url": "https://www.uniprot.org/uniprot/E5RG18", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RG18-1", "url": "https://www.uniprot.org/uniprot/E5RG18-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RIN7", "url": "https://www.uniprot.org/uniprot/E5RIN7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RIN7-1", "url": "https://www.uniprot.org/uniprot/E5RIN7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJK5", "url": "https://www.uniprot.org/uniprot/E5RJK5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJK5-1", "url": "https://www.uniprot.org/uniprot/E5RJK5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJW1", "url": "https://www.uniprot.org/uniprot/E5RJW1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJW1-1", "url": "https://www.uniprot.org/uniprot/E5RJW1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60216-1", "url": "https://www.uniprot.org/uniprot/O60216-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRKAKYLLADCNEAFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQPLPDLDDIDVAQQFSLNQSRVEEITMREEVGNISILQENDFGDFGMDDREIMREGSAFEDDDMLVSTTTSNLLLESEQSTSNLNEKINHLEYEDQYKDDNFGEGNDGGILDDKLISNNDGGIFDDPPALSEAGVMLPEQPAHDDMDEDDNVSMGGPDSPDSVDPVEPMPTMTDQTTLVPNEEEAFALEPIDITVKETKAKRKRKLIVDSVKELDSKTIRAQLSDYSDIVTTLDLAPPTKKLMMWKETGGVEKLFSLPAQPLWNNRLLKLFTRCLTPLVPEDLRKRRKGGEADNLDEFLKEFENPEVPREDQQQQHQQRDVIDEPIIEEPSRLQESVMEASRTNIDESAMPPPPPQGVKRKAGQIDPEPVMPPQQVEQMEIPPVELPPEEPPNICQLIPELELLPEKEKEKEKEKEDDEEEEDEDASGGDQDQEERRWNKRTQQMLHGLQRALAKTGAESISLLELCRNTNRKQAAAKFYSFLVLKKQQAIELTQEEPYSDIIATPGPRFHII", "length": 631, "header": "sp|O60216-1|RAD21_HUMAN Isoform 1 of Double-strand-break repair protein rad21 homolog OS=Homo sapiens OX=9606 GN=RAD21 PE=1 SV=2 CANONICAL=O60216-1" }, "isoforms": [ { "isoform_ac": "A0A8I5KWV3-1", "url": "", "sequence": { "sequence": "MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRKAKYLLADCNEAFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQPLPDLDDIDVAQQFSLNQSRVEEITMREEVGNISILQENDFGDFGMDDREIMREGSAFEDDDMLVSTTTSNLLLESEQSTSNLNEKINHLEYEDQYKDDNFGEGNDGGILDDKLISNNDGGIFDDPPALSEAGVMLPEQPAHDDMDEDDNVSMGGPDSPDSVDPVEPMPTMTDQTTLVPNEEEAFALEPIDITVKETKAKRKRKLIVDSVKELDSKTIRAQLSDYSDIVTTLDLAPPTKKLMMWKETGGVEKLFSLPAQPLWNNRLLKLFTRCLTPLVPEDLRKRRKGGEADNLDEFLKEFENPEVPREDQQQQHQQRDVIDEPIIEEPSRLQESVMEASRTNIDESAMPPPPPQGVKRKAGQIDPEPVMPPQQVEQMEIPPVELPPEEPPNICQLIPELELLPEKEKEKEKEKEDDEEEELFGGHFYSG", "length": 549, "header": "tr|A0A8I5KWV3-1|A0A8I5KWV3_HUMAN Computationally mapped isoform of RAD21 cohesin complex component OS=Homo sapiens OX=9606 GN=RAD21 PE=1 SV=1 CANONICAL=O60216-1" }, "locus": { "chromosome": "8", "start_pos": 116866729, "end_pos": 116849028, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687902.1", "url": "https://www.ensembl.org/id/ENST00000687902.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510729.1", "url": "https://www.ensembl.org/id/ENSP00000510729.1" } ] } }, { "isoform_ac": "E5RFV8-1", "url": "", "sequence": { "sequence": "MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRKAKYLLADCNEAFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQPLPDLDDIDVAQQFSLNQSRVEEITMREEVGNISILQENDFGDFGMDDREIMREGSAFEDDDMLVSTTTSNLLLESEQSTSNLNEKINHLEYEDQYKDDNFGEGND", "length": 225, "header": "tr|E5RFV8-1|E5RFV8_HUMAN Computationally mapped isoform of Double-strand-break repair protein rad21 homolog OS=Homo sapiens OX=9606 GN=RAD21 PE=1 SV=1 CANONICAL=O60216-1" }, "locus": { "chromosome": "8", "start_pos": 116866729, "end_pos": 116847503, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517485", "url": "https://www.ensembl.org/id/ENST00000517485" }, { "database": "Ensembl Peptide", "id": "ENSP00000427923", "url": "https://www.ensembl.org/id/ENSP00000427923" } ] } }, { "isoform_ac": "E5RG18-1", "url": "", "sequence": { "sequence": "MLHGLQRALAKTGAESISLLELCRNTNRKQAAAKFYSFLVLKKQQAIELTQEEPYSDIIATPGPRFHII", "length": 69, "header": "tr|E5RG18-1|RAD21_HUMAN Computationally mapped isoform of Double-strand-break repair protein rad21 homolog OS=Homo sapiens OX=9606 GN=RAD21 PE=1 SV=1 CANONICAL=O60216-1" }, "locus": { "chromosome": "8", "start_pos": 116866729, "end_pos": 116847503, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517749", "url": "https://www.ensembl.org/id/ENST00000517749" }, { "database": "Ensembl Peptide", "id": "ENSP00000430273", "url": "https://www.ensembl.org/id/ENSP00000430273" } ] } }, { "isoform_ac": "E5RIN7-1", "url": "", "sequence": { "sequence": "MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRKAKYLLADCNEAFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQPLPDLDDIDVAQQFSLNQSRVEEITMREEVGNISILQENDFGDFGMDDREIMREGSAFEDDDMLVSTTTSNLLLESEQSTSNLNEKINHLEYEDQYKDDNFGEGNDGGI", "length": 228, "header": "tr|E5RIN7-1|E5RIN7_HUMAN Computationally mapped isoform of Double-strand-break repair protein rad21 homolog OS=Homo sapiens OX=9606 GN=RAD21 PE=1 SV=1 CANONICAL=O60216-1" }, "locus": { "chromosome": "8", "start_pos": 116866729, "end_pos": 116847503, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520992", "url": "https://www.ensembl.org/id/ENST00000520992" }, { "database": "Ensembl Peptide", "id": "ENSP00000429342", "url": "https://www.ensembl.org/id/ENSP00000429342" } ] } }, { "isoform_ac": "E5RJK5-1", "url": "", "sequence": { "sequence": "MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRKAKYLLADCNEAFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQPLPDL", "length": 124, "header": "tr|E5RJK5-1|E5RJK5_HUMAN Computationally mapped isoform of Double-strand-break repair protein rad21 homolog OS=Homo sapiens OX=9606 GN=RAD21 PE=1 SV=1 CANONICAL=O60216-1" }, "locus": { "chromosome": "8", "start_pos": 116866729, "end_pos": 116847503, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519837", "url": "https://www.ensembl.org/id/ENST00000519837" }, { "database": "Ensembl Peptide", "id": "ENSP00000430524", "url": "https://www.ensembl.org/id/ENSP00000430524" } ] } }, { "isoform_ac": "E5RJW1-1", "url": "", "sequence": { "sequence": "MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRKAKYLLADCNEAFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQP", "length": 120, "header": "tr|E5RJW1-1|E5RJW1_HUMAN Computationally mapped isoform of Double-strand-break repair protein rad21 homolog OS=Homo sapiens OX=9606 GN=RAD21 PE=1 SV=1 CANONICAL=O60216-1" }, "locus": { "chromosome": "8", "start_pos": 116866729, "end_pos": 116847503, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522699", "url": "https://www.ensembl.org/id/ENST00000522699" }, { "database": "Ensembl Peptide", "id": "ENSP00000428158", "url": "https://www.ensembl.org/id/ENSP00000428158" } ] } }, { "isoform_ac": "O60216-1", "url": "", "sequence": { "sequence": 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Commun.", "date": "2000", "authors": "Sadano H, Sugimoto H, Sakai F, Nomura N, Osumi T", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216" } ], "reference": [ { "type": "PubMed", "id": "10623634", "url": "https://glygen.org/publication/PubMed/10623634" } ] }, { "title": "Transcriptional activation of transforming growth factor alpha by estradiol: requirement for both a GC-rich site and an estrogen response element half-site.", "journal": "Journal of molecular endocrinology", "date": "2000", "authors": "Vyhlidal C, Samudio I, Kladde MP, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "10828826", "url": "https://glygen.org/publication/PubMed/10828826" } ] }, { "title": "Promoter analysis and chromosomal mapping of human EBAG9 gene.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Ikeda K, Sato M, Tsutsumi O, Tsuchiya F, Tsuneizumi M, Emi M, Imoto I, Inazawa J, Muramatsu M, Inoue S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "10873660", "url": "https://glygen.org/publication/PubMed/10873660" } ] }, { "title": "Identification and characterization of SA/Scc3p subunits in the Xenopus and human cohesin complexes.", "journal": "J. Cell Biol.", "date": "2000", "authors": "Losada A, Yokochi T, Kobayashi R, Hirano T", "evidence": [ { "database": "UniProtKB", "id": "O60216", "url": "https://www.uniprot.org/uniprot/O60216" } ], "reference": [ { "type": "PubMed", "id": "10931856", "url": "https://glygen.org/publication/PubMed/10931856" } ] }, { "title": "Synergistic, p160 coactivator-dependent enhancement of estrogen receptor function by CARM1 and p300.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Chen D, Huang SM, Stallcup MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11010967", "url": "https://glygen.org/publication/PubMed/11010967" } ] }, { "title": "MYB oncogene amplification in hereditary BRCA1 breast cancer.", "journal": "Cancer research", "date": "2000", "authors": "Kauraniemi P, Hedenfalk I, Persson K, Duggan DJ, Tanner M, Johannsson O, Olsson 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