{ "uniprot_canonical_ac": "P08138-1", "uniprot_ac": "P08138", "uniprot_id": "TNR16_HUMAN", "mass": { "chemical_mass": 45183.0, "monoisotopic_mass": 45183.0 }, "refseq": { "ac": "NP_002498", "name": "tumor necrosis factor receptor superfamily member 16 precursor", "summary": "Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498" }, "gene_names": [ { "name": "NGFR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08138", "id": "P08138" }, { "name": "CD271; Gp80-LNGFR; p75(NTR); p75NTR; TNFRSF16", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498", "id": "NP_002498" }, { "name": "NGFR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498", "id": "NP_002498" }, { "name": "TNFRSF16", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08138", "id": "P08138" } ], "protein_names": [ { "name": "Tumor necrosis factor receptor superfamily member 16", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08138" }, { "name": "Gp80-LNGFR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08138" }, { "name": "Low affinity neurotrophin receptor p75NTR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08138" }, { "name": "Low-affinity nerve growth factor receptor p75NGFR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08138" }, { "name": "Low-affinity nerve growth factor receptor p75NGR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08138" }, { "name": "Low-affinity nerve growth factor receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08138" }, { "name": "NGF receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08138" }, { "name": "TNFR superfamily, member 16; tumor necrosis factor receptor superfamily member 16; low-affinity nerve growth factor receptor; p75 ICD; NGF receptor; low affinity neurotrophin receptor p75NTR; low-affinity nerve growth factor receptor p75NGR; low-affinity nerve growth factor receptor p75NGFR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498", "id": "NP_002498" }, { "name": "p75 ICD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08138" }, { "name": "tumor necrosis factor receptor superfamily member 16 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498", "id": "NP_002498" } ], "function": [ { "annotation": "CD271 promotes proliferation and migration in bladder cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498" }, { "database": "PubMed", "id": "38016691", "url": "https://glygen.org/publication/PubMed/38016691" } ] }, { "annotation": "Human immunomodulatory ligand B7-1 mediates synaptic remodeling via the p75 neurotrophin receptor. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498" }, { "database": "PubMed", "id": "36107635", "url": "https://glygen.org/publication/PubMed/36107635" } ] }, { "annotation": "Low affinity receptor which can bind to NGF, BDNF, NTF3, and NTF4. Forms a heterodimeric receptor with SORCS2 that binds the precursor forms of NGF, BDNF and NTF3 with high affinity, and has much lower affinity for mature NGF and BDNF (PubMed:24908487). Plays an important role in differentiation and survival of specific neuronal populations during development (By similarity). Can mediate cell survival as well as cell death of neural cells. Plays a role in the inactivation of RHOA (PubMed:26646181). Plays a role in the regulation of the translocation of GLUT4 to the cell surface in adipocytes and skeletal muscle cells in response to insulin, probably by regulating RAB31 activity, and thereby contributes to the regulation of insulin-dependent glucose uptake (By similarity). Necessary for the circadian oscillation of the clock genes BMAL1, PER1, PER2 and NR1D1 in the suprachiasmatic nucleus (SCmgetaN) of the brain and in liver and of the genes involved in glucose and lipid metabolism in the liver (PubMed:23785138).", "evidence": [ { "database": "UniProtKB", "id": "P08138", "url": "https://www.uniprot.org/uniprot/P08138#function" }, { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprot/Q9Z0W1#function" }, { "database": "PubMed", "id": "14966521", "url": "https://glygen.org/publication/PubMed/14966521" }, { "database": "PubMed", "id": "26646181", "url": "https://glygen.org/publication/PubMed/26646181" }, { "database": "PubMed", "id": "24908487", "url": "https://glygen.org/publication/PubMed/24908487" }, { "database": "PubMed", "id": "3022937", "url": "https://glygen.org/publication/PubMed/3022937" }, { "database": "PubMed", "id": "23785138", "url": "https://glygen.org/publication/PubMed/23785138" } ] }, { "annotation": "Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498" } ] }, { "annotation": "Neural cell adhesion molecule 1 is a cellular target engaged plasma biomarker in demyelinating Charcot-Marie-Tooth disease.", "evidence": [ { "database": "RefSeq", "id": "NP_002498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498" }, { "database": "PubMed", "id": "36856547", "url": "https://glygen.org/publication/PubMed/36856547" } ] }, { "annotation": "RELA is required for CD271 expression and stem-like characteristics in hypopharyngeal cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498" }, { "database": "PubMed", "id": "36273237", "url": "https://glygen.org/publication/PubMed/36273237" } ] }, { "annotation": "The Nerve Growth Factor Receptor (NGFR/p75[NTR]): A Major Player in Alzheimer's Disease. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498" }, { "database": "PubMed", "id": "36834612", "url": "https://glygen.org/publication/PubMed/36834612" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1339622307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339622307" }, { "id": "rs1339622307", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339622307" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 419, "end_pos": 419, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "17", "chr_pos": "49512981", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S419", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1369639328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1369639328" }, { "id": "rs1369639328", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1369639328#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 60, "end_pos": 60, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->SQT).", "chr_id": "17", "chr_pos": "49502175", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N60", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08138", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08138" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 62, "end_pos": 62, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NQT->NQI).", "chr_id": "17", "chr_pos": "49502181", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T62", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs938953910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs938953910" }, { "id": "rs938953910", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs938953910" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 78, "end_pos": 78, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAT->NAT).", "chr_id": "17", "chr_pos": "49506323", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S78", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 343, "end_pos": 343, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased interaction with ARHGDIA.", "evidence": [ { "database": "UniProtKB", "id": "P08138", "url": "https://www.uniprot.org/uniprot/P08138" }, { "database": "PubMed", "id": "26646181", "url": "https://glygen.org/publication/PubMed/26646181" } ] }, { "start_pos": 412, "end_pos": 412, "sequence_org": "D", "sequence_mut": "A", "comment": "Decreased interaction with ARHGDIA.", "evidence": [ { "database": "UniProtKB", "id": "P08138", "url": "https://www.uniprot.org/uniprot/P08138" }, { "database": "PubMed", "id": "26646181", "url": "https://glygen.org/publication/PubMed/26646181" } ] }, { "start_pos": 420, "end_pos": 420, "sequence_org": "E", "sequence_mut": "A", "comment": "Decreased interaction with ARHGDIA.", "evidence": [ { "database": "UniProtKB", "id": "P08138", "url": "https://www.uniprot.org/uniprot/P08138" }, { "database": "PubMed", "id": "26646181", "url": "https://glygen.org/publication/PubMed/26646181" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "67.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "54.26", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "59.57", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "76.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "71.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "60.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "63.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "58.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "76.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000064300", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000064300" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08138", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08138" } ], "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": "" }, { 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"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, 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"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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08138", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08138" } ], "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 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"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", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08138", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08138" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P08138", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08138" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"id": "R-HSA-209563", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209563", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002498", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P08138", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "P08138", "url": "https://www.uniprot.org/uniprot/P08138", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08138-1", "url": "https://www.uniprot.org/uniprot/P08138-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08138-2", "url": "https://www.uniprot.org/uniprot/P08138-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGAGATGRAMDGPRLLLLLLLGVSLGGAKEACPTGLYTHSGECCKACNLGEGVAQPCGANQTVCEPCLDSVTFSDVVSATEPCKPCTECVGLQSMSAPCVEADDAVCRCAYGYYQDETTGRCEACRVCEAGSGLVFSCQDKQNTVCEECPDGTYSDEANHVDPCLPCTVCEDTERQLRECTRWADAECEEIPGRWITRSTPPEGSDSTAPSTQEPEAPPEQDLIASTVAGVVTTVMGSSQPVVTRGTTDNLIPVYCSILAAVVVGLVAYIAFKRWNSCKQNKQGANSRPVNQTPPPEGEKLHSDSGISVDSQSLHDQQPHTQTASGQALKGDGGLYSSLPPAKREEVEKLLNGSAGDTWRHLAGELGYQPEHIDSFTHEACPVRALLASWATQDSATLDALLAALRRIQRADLVESLCSESTATSPV", "length": 427, "header": "sp|P08138-1|TNR16_HUMAN Isoform 1 of Tumor necrosis factor receptor superfamily member 16 OS=Homo sapiens OX=9606 GN=NGFR PE=1 SV=1 CANONICAL=P08138-1" }, "isoforms": [ { "isoform_ac": "P08138-1", "url": "", "sequence": { "sequence": "MGAGATGRAMDGPRLLLLLLLGVSLGGAKEACPTGLYTHSGECCKACNLGEGVAQPCGANQTVCEPCLDSVTFSDVVSATEPCKPCTECVGLQSMSAPCVEADDAVCRCAYGYYQDETTGRCEACRVCEAGSGLVFSCQDKQNTVCEECPDGTYSDEANHVDPCLPCTVCEDTERQLRECTRWADAECEEIPGRWITRSTPPEGSDSTAPSTQEPEAPPEQDLIASTVAGVVTTVMGSSQPVVTRGTTDNLIPVYCSILAAVVVGLVAYIAFKRWNSCKQNKQGANSRPVNQTPPPEGEKLHSDSGISVDSQSLHDQQPHTQTASGQALKGDGGLYSSLPPAKREEVEKLLNGSAGDTWRHLAGELGYQPEHIDSFTHEACPVRALLASWATQDSATLDALLAALRRIQRADLVESLCSESTATSPV", "length": 427, "header": "sp|P08138-1|TNR16_HUMAN Isoform 1 of Tumor necrosis factor receptor superfamily member 16 OS=Homo sapiens OX=9606 GN=NGFR PE=1 SV=1 CANONICAL=P08138-1" }, "locus": { "chromosome": "17", "start_pos": 49513006, "end_pos": 49495418, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000172229.8", "url": "https://www.ensembl.org/id/ENST00000172229.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000172229.3", "url": "https://www.ensembl.org/id/ENSP00000172229.3" } ] } }, { "isoform_ac": "P08138-2", "url": "", "sequence": { "sequence": "MSAPCVEADDAVCRCAYGYYQDETTGRCEACRVCEAGSGLVFSCQDKQNTVCEECPDGTYSDEANHVDPCLPCTVCEDTERQLRECTRWADAECEEIPGRWITRSTPPEGSDSTAPSTQEPEAPPEQDLIASTVAGVVTTVMGSSQPVVTRGTTDNLIPVYCSILAAVVVGLVAYIAFKRWNSCKQNKQGANSRPVNQTPPPEGEKLHSDSGISVDSQSLHDQQPHTQTASGQALKGDGGLYSSLPPAKREEVEKLLNGSAGDTWRHLAGELGYQPEHIDSFTHEACPVRALLASWATQDSATLDALLAALRRIQRADLVESLCSESTATSPV", "length": 333, "header": "sp|P08138-2|TNR16_HUMAN Isoform 2 of Tumor necrosis factor receptor superfamily member 16 OS=Homo sapiens OX=9606 GN=NGFR PE=1 SV=1 CANONICAL=P08138-1" }, "locus": { "chromosome": "17", "start_pos": 49513006, "end_pos": 49506373, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000504201.1", "url": "https://www.ensembl.org/id/ENST00000504201.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000421731.1", "url": "https://www.ensembl.org/id/ENSP00000421731.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G04437UY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 60, "start_aa": "Asn", "end_pos": 60, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn60", "evidence": [ { "id": "611", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/611" } ] }, { "glytoucan_ac": "G21071II", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 60, "start_aa": "Asn", "end_pos": 60, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn60", "evidence": [ { "id": "611", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/611" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 60, "start_aa": "Asn", "end_pos": 60, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn60", "evidence": [ { "id": "611", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/611" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 60, "start_aa": "Asn", "end_pos": 60, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn60", "evidence": [ { "id": "611", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/611" } ] }, { "glytoucan_ac": "G52139TP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 60, "start_aa": "Asn", "end_pos": 60, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn60", "evidence": [ { "id": "611", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/611" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 60, "start_aa": "Asn", "end_pos": 60, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn60", "evidence": [ { "id": "611", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/611" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "ASN-60 ; ASN-60", "start_pos": 60, "start_aa": "Asn", "end_pos": 60, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn60", "evidence": [ { "id": "P08138", "database": "UniCarbKB", "url": "" }, { "id": "8627329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8627329" }, { "id": "P08138", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08138#ptm_processing" } ] }, { "glytoucan_ac": "G37891WT", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "611", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/611" }, { "id": "8627329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8627329" } ] }, { "glytoucan_ac": "G74722FL", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "611", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/611" }, { "id": "8627329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8627329" } ] }, { "glytoucan_ac": "G78768PN", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "611", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/611" }, { "id": "8627329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8627329" } ] }, { "glytoucan_ac": "G81006GJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "611", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/611" }, { "id": "8627329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8627329" } ] } ], "phosphorylation": [ { "start_pos": 303, "end_pos": 303, "kinase_uniprot_canonical_ac": "P22694-1", "kinase_gene_name": "PRKACB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08138", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08138" }, { "database": "PubMed", "id": "12682012", "url": "https://glygen.org/publication/PubMed/12682012" } ], "site_lbl": "Ser303" }, { "start_pos": 303, "end_pos": 303, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P08138", "url": "http://phospho.elm.eu.org/byAccession/P08138.html" }, { "database": "iPTMnet", "id": "P08138", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08138" }, { "database": "PubMed", "id": "12682012", "url": "https://glygen.org/publication/PubMed/12682012" } ], "site_lbl": "Ser303" }, { "start_pos": 311, "end_pos": 311, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08138", "url": "https://www.uniprot.org/uniprot/P08138" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P08138", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08138" } ], "site_lbl": "Ser311" }, { "start_pos": 313, "end_pos": 313, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08138", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08138" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser313" }, { "start_pos": 377, "end_pos": 377, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08138", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08138" }, { "database": "PubMed", "id": "31848261", "url": "" } ], "site_lbl": "Thr377" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Activation of IkappaB kinase beta by protein kinase C isoforms.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Lallena MJ, Diaz-Meco MT, Bren G, Paya CV, Moscat J", "evidence": [ { "database": "Reactome", "id": "R-HSA-209560", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209560" } ], "reference": [ { "type": "PubMed", "id": "10022904", "url": "https://glygen.org/publication/PubMed/10022904" } ] }, { "title": "TRAF family proteins interact with the common neurotrophin receptor and modulate apoptosis induction.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Ye X, Mehlen P, Rabizadeh S, VanArsdale T, Zhang H, Shin H, Wang JJ, Leo E, Zapata J, Hauser CA, Reed JC, Bredesen DE", "evidence": [ { "database": "UniProtKB", "id": "P08138", "url": "https://www.uniprot.org/uniprot/P08138" } ], "reference": [ { "type": "PubMed", "id": "10514511", "url": "https://glygen.org/publication/PubMed/10514511" } ] }, { "title": "Functional interaction of Fas-associated phosphatase-1 (FAP-1) with p75(NTR) and their effect on NF-kappaB activation.", "journal": "FEBS Lett.", "date": "1999", "authors": "Irie S, Hachiya T, Rabizadeh S, Maruyama W, Mukai J, Li Y, Reed JC, Bredesen DE, Sato TA", "evidence": [ { "database": "UniProtKB", "id": "P08138", "url": "https://www.uniprot.org/uniprot/P08138" } ], "reference": [ { "type": "PubMed", "id": "10544233", "url": "https://glygen.org/publication/PubMed/10544233" } ] }, { "title": "The atypical PKC-interacting protein p62 channels NF-kappaB activation by the IL-1-TRAF6 pathway.", "journal": "The EMBO journal", "date": "2000", "authors": "Sanz L, Diaz-Meco MT, Nakano H, Moscat J", "evidence": [ { "database": "Reactome", "id": "R-HSA-209543", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-209543" } ], "reference": [ { "type": "PubMed", "id": "10747026", "url": "https://glygen.org/publication/PubMed/10747026" } ] }, { "title": "NADE, a p75NTR-associated cell death executor, is involved in signal transduction mediated by the common neurotrophin receptor p75NTR.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Mukai J, Hachiya T, Shoji-Hoshino S, Kimura MT, Nadano D, Suvanto P, Hanaoka T, Li Y, Irie S, Greene LA, Sato TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-205025", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-205025" } ], "reference": [ { "type": "PubMed", "id": "10764727", "url": "https://glygen.org/publication/PubMed/10764727" } ] }, { "title": "Identification of a receptor mediating Nogo-66 inhibition of axonal regeneration.", "journal": "Nature", "date": "2001", "authors": "Fournier AE, GrandPre T, Strittmatter SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-193634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193634" } ], "reference": [ { "type": "PubMed", "id": "11201742", "url": "https://glygen.org/publication/PubMed/11201742" } ] }, { "title": "The atypical protein kinase C-interacting protein p62 is a scaffold for NF-kappaB activation by nerve growth factor.", "journal": "J. Biol. 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