{ "uniprot_canonical_ac": "O43508-1", "uniprot_ac": "O43508", "uniprot_id": "TNF12_HUMAN", "mass": { "chemical_mass": 27216.0, "monoisotopic_mass": 27216.0 }, "refseq": { "ac": "NP_003800", "name": "tumor necrosis factor ligand superfamily member 12 proprotein", "summary": "The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" }, "gene_names": [ { "name": "TNFSF12", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43508", "id": "O43508" }, { "name": "APO3L; DR3LG; TNLG4A; TWEAK", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800", "id": "NP_003800" }, { "name": "APO3L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43508", "id": "O43508" }, { "name": "DR3LG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43508", "id": "O43508" }, { "name": "PRO207", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43508", "id": "O43508" }, { "name": "TNFSF12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800", "id": "NP_003800" }, { "name": "TNLG4A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43508", "id": "O43508" }, { "name": "hCG_1991317", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43508", "id": "O43508" } ], "protein_names": [ { "name": "Tumor necrosis factor ligand superfamily member 12", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43508" }, { "name": "APO3 ligand", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43508" }, { "name": "APO3/DR3 ligand; TNF-related WEAK inducer of apoptosis; APO3 ligand; tumor necrosis factor (ligand) superfamily, member 12; tumor necrosis factor ligand 4A; tumor necrosis factor superfamily member 12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800", "id": "NP_003800" }, { "name": "TNF-related weak inducer of apoptosis", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43508" }, { "name": "TWEAK", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43508" }, { "name": "tumor necrosis factor ligand superfamily member 12 proprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800", "id": "NP_003800" } ], "function": [ { "annotation": "Binds to FN14 and possibly also to TNRFSF12/APO3. Weak inducer of apoptosis in some cell types. Mediates NF-kappa-B activation. Promotes angiogenesis and the proliferation of endothelial cells. Also involved in induction of inflammatory cytokines. Promotes IL8 secretion.", "evidence": [ { "database": "UniProtKB", "id": "O43508", "url": "https://www.uniprot.org/uniprot/O43508#function" }, { "database": "PubMed", "id": "10085077", "url": "https://glygen.org/publication/PubMed/10085077" }, { "database": "PubMed", "id": "23667509", "url": "https://glygen.org/publication/PubMed/23667509" } ] }, { "annotation": "Full-length, membrane-anchored TWEAK can function as a juxtacrine signaling molecule and activate the NF-kappaB pathway", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" }, { "database": "PubMed", "id": "20385556", "url": "https://glygen.org/publication/PubMed/20385556" } ] }, { "annotation": "Membrane TWEAK is superior to soluble TWEAK with respect to activation of the classical NF-kappa B pathway, whereas both TWEAK variants are potent inducers of TNFR-associated factor-2 depletion, NF-kappaB-inducing kinase accumulation and p100 processing.", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" }, { "database": "PubMed", "id": "20610643", "url": "https://glygen.org/publication/PubMed/20610643" } ] }, { "annotation": "Relief of Extracellular Matrix Deposition Repression by Downregulation of IRF1-Mediated TWEAK/Fn14 Signaling in Keloids.", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" }, { "database": "PubMed", "id": "36716919", "url": "https://glygen.org/publication/PubMed/36716919" } ] }, { "annotation": "Sclerostin and TNF-related weak inducer of apoptosis: can they be important in the patients with glomerulonephritis? Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" }, { "database": "PubMed", "id": "37466605", "url": "https://glygen.org/publication/PubMed/37466605" } ] }, { "annotation": "TWEAK and Fn14 are overexpressed in immune-mediated necrotizing myopathy: implications for muscle damage and repair. Erratum:[Rheumatology (Oxford). 2023 May 11;:. PMID: 37167527]", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" }, { "database": "PubMed", "id": "36916753", "url": "https://glygen.org/publication/PubMed/36916753" } ] }, { "annotation": "TWEAK/Fn14 signaling may function as a reactive compensatory mechanism against extracellular matrix accumulation in keloid fibroblasts.", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" }, { "database": "PubMed", "id": "36709605", "url": "https://glygen.org/publication/PubMed/36709605" } ] }, { "annotation": "The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs267605072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267605072" }, { "id": "rs267605072", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267605072" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 127, "end_pos": 127, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "17", "chr_pos": "7556783", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D127", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755191711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755191711" }, { "id": "rs755191711", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755191711" }, { "id": "rs755191711", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755191711" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 129, "end_pos": 129, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TVS->NVS).", "chr_id": "17", "chr_pos": "7550801", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1344141811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1344141811" }, { "id": "rs1344141811", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1344141811#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 141, "end_pos": 141, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSC).", "chr_id": "17", "chr_pos": "7556828", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S141", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239697" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000239697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239697" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239697" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239697" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239697" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239697" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000239697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239697" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239697" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239697" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43508", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43508" } ], "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 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"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 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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, 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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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43508", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43508" } ], "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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43508", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43508" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "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", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43508", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43508" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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GN=TNFSF12 PE=1 SV=1 CANONICAL=O43508-1" }, "locus": { "chromosome": "17", "start_pos": 7557347, "end_pos": 7549154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700015.1", "url": "https://www.ensembl.org/id/ENST00000700015.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514756.1", "url": "https://www.ensembl.org/id/ENSP00000514756.1" } ] } }, { "isoform_ac": "A0A8V8TP82-1", "url": "", "sequence": { "sequence": "MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQEPAQEELVAEEDQDPSELNPQTEESQDPAPFLNRLVRPRRTPKGRKTRARRAIAAHYEVHPRPGQDGAQAGVDGTVSGWEEARINSSSPLRYNRQIGEFIVTRAGLYYLYCQVHFDEGKAVYLKLDLLVDGVLALRCLEEFSATAASSLGPQLRLCQVSGLLALRPGSSLRIRTLPWAHLKAAPFLTYFGLFQVH", "length": 248, "header": "tr|A0A8V8TP82-1|A0A8V8TP82_HUMAN Computationally mapped isoform of TNF superfamily member 12 OS=Homo sapiens OX=9606 GN=TNFSF12 PE=1 SV=1 CANONICAL=O43508-1" }, "locus": { "chromosome": "17", "start_pos": 7557347, "end_pos": 7549154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700053.1", "url": "https://www.ensembl.org/id/ENST00000700053.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514765.1", "url": "https://www.ensembl.org/id/ENSP00000514765.1" } ] } }, { "isoform_ac": "A0A8V8TPL4-1", "url": "", "sequence": { "sequence": "MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQQEPAQEELVAEEDQDPSVSGRGRGLQAAGAWEVCTAEAAGVCSCASRTRGTESPDRRKPGSCAFPEPTSSASQKCT", "length": 129, "header": "tr|A0A8V8TPL4-1|TNF12_HUMAN Computationally mapped isoform of Tumor necrosis factor ligand superfamily member 12 OS=Homo sapiens OX=9606 GN=TNFSF12 PE=1 SV=1 CANONICAL=O43508-1" }, "locus": { "chromosome": "17", "start_pos": 7550802, "end_pos": 7549154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700054.1", "url": "https://www.ensembl.org/id/ENST00000700054.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514766.1", "url": "https://www.ensembl.org/id/ENSP00000514766.1" } ] } }, { "isoform_ac": "A0A8V8TPS2-1", "url": "", "sequence": { "sequence": "MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQEPAQEELVAEEDQDPSELNPQTEESQDPAPFLNRLVRPRRSAPKGRKTRARRAIAAHYEVHPRPGQDGAQAGETPSPDTALASWEKGP", "length": 141, "header": "tr|A0A8V8TPS2-1|TNF12_HUMAN Computationally mapped isoform of Tumor necrosis factor ligand superfamily member 12 OS=Homo sapiens OX=9606 GN=TNFSF12 PE=1 SV=1 CANONICAL=O43508-1" }, "locus": { "chromosome": "17", "start_pos": 7551028, "end_pos": 7549154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700051.1", "url": "https://www.ensembl.org/id/ENST00000700051.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514763.1", "url": "https://www.ensembl.org/id/ENSP00000514763.1" } ] } }, { "isoform_ac": "A0A8V8TQJ4-1", "url": "", "sequence": { "sequence": "MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQEPAQEELVAEEDQDPSVSGRGRGLQAAGAWEVCTAEAAGTESPDRRKPGSCAFPEPTSSASQKCT", "length": 118, "header": "tr|A0A8V8TQJ4-1|TNF12_HUMAN Computationally mapped isoform of Tumor necrosis factor ligand superfamily member 12 OS=Homo sapiens OX=9606 GN=TNFSF12 PE=1 SV=1 CANONICAL=O43508-1" }, "locus": { "chromosome": "17", "start_pos": 7550802, "end_pos": 7549154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700014.1", "url": "https://www.ensembl.org/id/ENST00000700014.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514755.1", "url": "https://www.ensembl.org/id/ENSP00000514755.1" } ] } }, { "isoform_ac": "A0A8V8TQK2-1", "url": "", "sequence": { "sequence": "MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQQEPAQEELVAEEDQDPSELNPQTEESQDPAPFLNRLVRPRRSAPKGRKTRARRAIAAHYEVHPRPGQDGAQADGGYTTCLRP", "length": 135, "header": "tr|A0A8V8TQK2-1|A0A8V8TQK2_HUMAN Computationally mapped isoform of TNF superfamily member 12 OS=Homo sapiens OX=9606 GN=TNFSF12 PE=4 SV=1 CANONICAL=O43508-1" }, "locus": { "chromosome": "17", "start_pos": 7553615, "end_pos": 7549154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700056.1", "url": "https://www.ensembl.org/id/ENST00000700056.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514767.1", "url": "https://www.ensembl.org/id/ENSP00000514767.1" } ] } }, { "isoform_ac": "A0A8V8TQX4-1", "url": "", "sequence": { "sequence": "MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQEPAQEELVAEEDQDPSELNPQTEESQDPAPFLNRLVRPRRSAPKGRKTRARRAIAAHYEVHPRPGQDGAQAGAL", "length": 127, "header": "tr|A0A8V8TQX4-1|A0A8V8TQX4_HUMAN Computationally mapped isoform of TNF superfamily member 12 OS=Homo sapiens OX=9606 GN=TNFSF12 PE=4 SV=1 CANONICAL=O43508-1" }, "locus": { "chromosome": "17", "start_pos": 7557106, "end_pos": 7549154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700052.1", "url": "https://www.ensembl.org/id/ENST00000700052.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514764.1", "url": "https://www.ensembl.org/id/ENSP00000514764.1" } ] } }, { "isoform_ac": "C0H5Y4-1", "url": "", "sequence": { "sequence": "MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQEPAQEELVAEEDQDPSELNPQTEESQDPAPFLNRLVRPRRSAPKGRKTRARRAIAAHYEVHPRPGQDGAQADGGYTTCLRP", "length": 134, "header": "tr|C0H5Y4-1|TNF12_HUMAN Computationally mapped isoform of Tumor necrosis factor ligand superfamily member 12 OS=Homo sapiens OX=9606 GN=TNFSF12 PE=1 SV=1 CANONICAL=O43508-1" }, "locus": { "chromosome": "17", "start_pos": 7553615, "end_pos": 7549154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000322272.11", "url": "https://www.ensembl.org/id/ENST00000322272.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000314636.7", "url": "https://www.ensembl.org/id/ENSP00000314636.7" } ] } }, { "isoform_ac": "O43508-1", "url": "", "sequence": { "sequence": "MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQEPAQEELVAEEDQDPSELNPQTEESQDPAPFLNRLVRPRRSAPKGRKTRARRAIAAHYEVHPRPGQDGAQAGVDGTVSGWEEARINSSSPLRYNRQIGEFIVTRAGLYYLYCQVHFDEGKAVYLKLDLLVDGVLALRCLEEFSATAASSLGPQLRLCQVSGLLALRPGSSLRIRTLPWAHLKAAPFLTYFGLFQVH", "length": 249, "header": "sp|O43508-1|TNF12_HUMAN Isoform 1 of Tumor necrosis factor ligand superfamily member 12 OS=Homo sapiens OX=9606 GN=TNFSF12 PE=1 SV=1 CANONICAL=O43508-1" }, "locus": { "chromosome": "17", "start_pos": 7557347, "end_pos": 7549154, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000293825.11", "url": "https://www.ensembl.org/id/ENST00000293825.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000293825.6", "url": "https://www.ensembl.org/id/ENSP00000293825.6" } ] } }, { "isoform_ac": "O43508-2", "url": "", "sequence": { "sequence": "MAARRSQRRRGRRGEPGTALLVPLALGLGLALACLGLLLAVVSLGSRASLSAQEPAQEELVAEEDQDPSELNPQTEESQDPAPFLNRLVRPRRSAPKGRKTRARRAIAAHYEVHPRPGQDGAQAGVDGTVSGWEEARINSSSPLRYNRQIGEFIVTRAGLYYLYCQSSDALEAWENGERSRKRRAVLTQKQKKQHSVLHLVPINATSKDDSDVTEVMWQPALRRGRGLQAQGYGVRIQDAGVYLLYSQVLFQDVTFTMGQVVSREGQGRQETLFRCIRSMPSHPDRAYNSCYSAGVFHLHQGDILSVIIPRARAKLNLSPHGTFLGFVKL", "length": 330, "header": "sp|O43508-2|TNF12_HUMAN Isoform 2 of Tumor necrosis factor ligand superfamily member 12 OS=Homo sapiens OX=9606 GN=TNFSF12 PE=1 SV=1 CANONICAL=O43508-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 139, "start_aa": "Asn", "end_pos": 139, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn139", "evidence": [ { "id": "O43508", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43508#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 198, "start_aa": "Thr", "end_pos": 198, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr198", "evidence": [ { "id": "O43508", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [ { "start_pos": 223, "end_pos": 223, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43508", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43508" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser223" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "TWEAK induces angiogenesis and proliferation of endothelial cells.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Lynch CN, Wang YC, Lund JK, Chen YW, Leal JA, Wiley SR", "evidence": [ { "database": "UniProtKB", "id": "O43508", "url": "https://www.uniprot.org/uniprot/O43508" }, { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "10085077", "url": "https://glygen.org/publication/PubMed/10085077" } ] }, { "title": "BAFF, a novel ligand of the tumor necrosis factor family, stimulates B cell growth.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Schneider P, MacKay F, Steiner V, Hofmann K, Bodmer JL, Holler N, Ambrose C, Lawton P, Bixler S, Acha-Orbea H, Valmori D, Romero P, Werner-Favre C, Zubler RH, Browning JL, Tschopp J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "10359578", "url": "https://glygen.org/publication/PubMed/10359578" } ] }, { "title": "Ubiquitin protein ligase activity of IAPs and their degradation in proteasomes in response to apoptotic stimuli.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Yang Y, Fang S, Jensen JP, Weissman AM, Ashwell JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "10797013", "url": "https://glygen.org/publication/PubMed/10797013" } ] }, { "title": "A novel TNF receptor family member binds TWEAK and is implicated in angiogenesis.", "journal": "Immunity", "date": "2001", "authors": "Wiley SR, Cassiano L, Lofton T, Davis-Smith T, Winkles JA, Lindner V, Liu H, Daniel TO, Smith CA, Fanslow WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "11728344", "url": "https://glygen.org/publication/PubMed/11728344" } ] }, { "title": "Crystal structure of sTALL-1 reveals a virus-like assembly of TNF family ligands.", "journal": "Cell", "date": "2002", "authors": "Liu Y, Xu L, Opalka N, Kappler J, Shu HB, Zhang G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "11853672", "url": "https://glygen.org/publication/PubMed/11853672" } ] }, { "title": "CD40 regulates the processing of NF-kappaB2 p100 to p52.", "journal": "The EMBO journal", "date": "2002", "authors": "Coope HJ, Atkinson PG, Huhse B, Belich M, Janzen J, Holman MJ, Klaus GG, Johnston LH, Ley SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "12374738", "url": "https://glygen.org/publication/PubMed/12374738" } ] }, { "title": "An endogenous hybrid mRNA encodes TWE-PRIL, a functional cell surface TWEAK-APRIL fusion protein.", "journal": "EMBO J.", "date": "2002", "authors": "Pradet-Balade B, Medema J P, L\u00f3pez-Fraga M, Lozano J C, Kolfschoten G M, Picard A, Mart\u00ednez-A C, Garcia-Sanz J A, Hahne M", "evidence": [ { "database": "UniProtKB", "id": "O43508", "url": "https://www.uniprot.org/uniprot/O43508" } ], "reference": [ { "type": "PubMed", "id": "12411489", "url": "https://glygen.org/publication/PubMed/12411489" } ] }, { "title": "The Fn14 cytoplasmic tail binds tumour-necrosis-factor-receptor-associated factors 1, 2, 3 and 5 and mediates nuclear factor-kappaB activation.", "journal": "The Biochemical journal", "date": "2003", "authors": "Brown SA, Richards CM, Hanscom HN, Feng SL, Winkles JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": 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Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O43508", "url": "https://www.uniprot.org/uniprot/O43508" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome.", "journal": "Nature", "date": "2004", "authors": "Tian XL, Kadaba R, You SA, Liu M, Timur AA, Yang L, Chen Q, Szafranski P, Rao S, Wu L, Housman DE, DiCorleto PE, Driscoll DJ, Borrow J, Wang Q", "evidence": [ { "database": "UniProtKB", "id": "O43508", "url": "https://www.uniprot.org/uniprot/O43508" } ], "reference": [ { "type": "PubMed", "id": "14961121", "url": "https://glygen.org/publication/PubMed/14961121" } ] }, { "title": "Regulation of the NF-kappaB-inducing kinase by tumor necrosis factor receptor-associated factor 3-induced degradation.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Liao G, Zhang M, Harhaj EW, Sun SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "15084608", "url": "https://glygen.org/publication/PubMed/15084608" } ] }, { "title": "BAFF binding to T cell-expressed BAFF-R costimulates T cell proliferation and alloresponses.", "journal": "European journal of immunology", "date": "2004", "authors": "Ye Q, Wang L, Wells AD, Tao R, Han R, Davidson A, Scott ML, Hancock WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "15368291", "url": "https://glygen.org/publication/PubMed/15368291" } ] }, { "title": "Key molecular contacts promote recognition of the BAFF receptor by TNF receptor-associated factor 3: implications for intracellular signaling regulation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Ni CZ, Oganesyan G, Welsh K, Zhu X, Reed JC, Satterthwait AC, Cheng G, Ely KR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "15585864", "url": "https://glygen.org/publication/PubMed/15585864" } ] }, { "title": "An atypical tumor necrosis factor (TNF) receptor-associated factor-binding motif of B cell-activating factor belonging to the TNF family (BAFF) receptor mediates induction of the noncanonical NF-kappaB signaling pathway.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Morrison MD, Reiley W, Zhang M, Sun SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "15644327", "url": "https://glygen.org/publication/PubMed/15644327" } ] }, { "title": "TRAF2 is essential for TNF-alpha-induced osteoclastogenesis.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2005", "authors": "Kanazawa K, Kudo A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "15824857", "url": "https://glygen.org/publication/PubMed/15824857" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O43508-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43508-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Mechanism of action of certolizumab pegol (CDP870): in vitro comparison with other anti-tumor necrosis factor alpha agents.", "journal": "Inflammatory bowel diseases", "date": "2007", "authors": "Nesbitt A, Fossati G, Bergin M, Stephens P, Stephens S, Foulkes R, Brown D, Robinson M, Bourne T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "17636564", "url": "https://glygen.org/publication/PubMed/17636564" } ] }, { "title": "Essential cytoplasmic translocation of a cytokine receptor-assembled signaling complex.", "journal": "Science (New York, N.Y.)", "date": "2008", "authors": "Matsuzawa A, Tseng PH, Vallabhapurapu S, Luo JL, Zhang W, Wang H, Vignali DA, Gallagher E, Karin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "18635759", "url": "https://glygen.org/publication/PubMed/18635759" } ] }, { "title": "Nonredundant and complementary functions of TRAF2 and TRAF3 in a ubiquitination cascade that activates NIK-dependent alternative NF-kappaB signaling.", "journal": "Nature immunology", "date": "2008", "authors": "Vallabhapurapu S, Matsuzawa A, Zhang W, Tseng PH, Keats JJ, Wang H, Vignali DA, Bergsagel PL, Karin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "18997792", "url": "https://glygen.org/publication/PubMed/18997792" } ] }, { "title": "Noncanonical NF-kappaB activation requires coordinated assembly of a regulatory complex of the adaptors cIAP1, cIAP2, TRAF2 and TRAF3 and the kinase NIK.", "journal": "Nature immunology", "date": "2008", "authors": "Zarnegar BJ, Wang Y, Mahoney DJ, Dempsey PW, Cheung HH, He J, Shiba T, Yang X, Yeh WC, Mak TW, Korneluk RG, Cheng G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "18997794", "url": "https://glygen.org/publication/PubMed/18997794" } ] }, { "title": "Solution structure of the cysteine-rich domain in Fn14, a member of the tumor necrosis factor receptor superfamily.", "journal": "Protein science : a publication of the Protein Society", "date": "2009", "authors": "He F, Dang W, Saito K, Watanabe S, Kobayashi N, Guntert P, Kigawa T, Tanaka A, Muto Y, Yokoyama S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "19241374", "url": "https://glygen.org/publication/PubMed/19241374" } ] }, { "title": "Molecular mechanism and function of CD40/CD40L engagement in the immune system.", "journal": "Immunological reviews", "date": "2009", "authors": "Elgueta R, Benson MJ, de Vries VC, Wasiuk A, Guo Y, Noelle RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "19426221", "url": "https://glygen.org/publication/PubMed/19426221" } ] }, { "title": "TRAF2 must bind to cellular inhibitors of apoptosis for tumor necrosis factor (tnf) to efficiently activate nf-{kappa}b and to prevent tnf-induced apoptosis.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Vince JE, Pantaki D, Feltham R, Mace PD, Cordier SM, Schmukle AC, Davidson AJ, Callus BA, Wong WW, Gentle IE, Carter H, Lee EF, Walczak H, Day CL, Vaux DL, Silke J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "19815541", "url": "https://glygen.org/publication/PubMed/19815541" } ] }, { "title": "Full-length, membrane-anchored TWEAK can function as a juxtacrine signaling molecule and activate the NF-kappaB pathway.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Brown SA, Ghosh A, Winkles JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" }, { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" } ], "reference": [ { "type": "PubMed", "id": "20385556", "url": "https://glygen.org/publication/PubMed/20385556" } ] }, { "title": "Structural and functional insights of RANKL-RANK interaction and signaling.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Liu C, Walter TS, Huang P, Zhang S, Zhu X, Wu Y, Wedderburn LR, Tang P, Owens RJ, Stuart DI, Ren J, Gao B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "20483727", "url": "https://glygen.org/publication/PubMed/20483727" } ] }, { "title": "Soluble and transmembrane TNF-like weak inducer of apoptosis differentially activate the classical and noncanonical NF-kappa B pathway.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Roos C, Wicovsky A, Muller N, Salzmann S, Rosenthal T, Kalthoff H, Trauzold A, Seher A, Henkler F, Kneitz C, Wajant H", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" } ], "reference": [ { "type": "PubMed", "id": "20610643", "url": "https://glygen.org/publication/PubMed/20610643" } ] }, { "title": "Solution of the structure of the TNF-TNFR2 complex.", "journal": "Science signaling", "date": "2010", "authors": "Mukai Y, Nakamura T, Yoshikawa M, Yoshioka Y, Tsunoda S, Nakagawa S, Yamagata Y, Tsutsumi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "21081755", "url": "https://glygen.org/publication/PubMed/21081755" } ] }, { "title": "Anti-TNF-alpha agents in the treatment of immune-mediated inflammatory diseases: mechanisms of action and pitfalls.", "journal": "Immunotherapy", "date": "2010", "authors": "Silva LC, Ortigosa LC, Benard G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "21091114", "url": "https://glygen.org/publication/PubMed/21091114" } ] }, { "title": "Crystal structure of human TWEAK in complex with the Fab fragment of a neutralizing antibody reveals insights into receptor binding.", "journal": "PloS one", "date": "2013", "authors": "Lammens A, Baehner M, Kohnert U, Niewoehner J, von Proff L, Schraeml M, Lammens K, Hopfner KP", "evidence": [ { "database": "UniProtKB", "id": "O43508", "url": "https://www.uniprot.org/uniprot/O43508" }, { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "23667509", "url": "https://glygen.org/publication/PubMed/23667509" } ] }, { "title": "Dimerization of LTbetaR by LTalpha1beta2 is necessary and sufficient for signal transduction.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Sudhamsu J, Yin J, Chiang EY, Starovasnik MA, Grogan JL, Hymowitz SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "24248355", "url": "https://glygen.org/publication/PubMed/24248355" } ] }, { "title": "CD40-Mediated Activation of the NF-kappaB2 Pathway.", "journal": "Frontiers in immunology", "date": "2013", "authors": "Hostager BS, Bishop GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "24298274", "url": "https://glygen.org/publication/PubMed/24298274" } ] }, { "title": "Non-Canonical NF-kappaB Signaling Initiated by BAFF Influences B Cell Biology at Multiple Junctures.", "journal": "Frontiers in immunology", "date": "2014", "authors": "Gardam S, Brink R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "24432023", "url": "https://glygen.org/publication/PubMed/24432023" } ] }, { "title": "TRAF-mediated modulation of NF-kB AND JNK activation by TNFR2.", "journal": "Cellular signalling", "date": "2014", "authors": "Cabal-Hierro L, Rodriguez M, Artime N, Iglesias J, Ugarte L, Prado MA, Lazo PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "25152365", "url": "https://glygen.org/publication/PubMed/25152365" } ] }, { "title": "Comparative genomic analysis of eutherian tumor necrosis factor ligand genes.", "journal": "Immunogenetics", "date": "2016", "authors": "Premzl Marko", "evidence": [ { "database": "UniProtKB", "id": "A0A0U5J5F5", "url": "https://www.uniprot.org/uniprot/A0A0U5J5F5" } ], "reference": [ { "type": "PubMed", "id": "26646413", "url": "https://glygen.org/publication/PubMed/26646413" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O43508", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "TWEAK/Fn14 signaling may function as a reactive compensatory mechanism against extracellular matrix accumulation in keloid fibroblasts.", "journal": "European journal of cell biology", "date": "2023-01-23", "authors": "Zhang Yitian, Li Xiaoli, Liu Wei, Hu Guanglei, Gu Hanjiang, Cui Xiao, Zhang Dewu, Zeng Weihui, Xia Yumin", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" } ], "reference": [ { "type": "PubMed", "id": "36709605", "url": "https://glygen.org/publication/PubMed/36709605" } ] }, { "title": "Relief of Extracellular Matrix Deposition Repression by Downregulation of IRF1-Mediated TWEAK/Fn14 Signaling in Keloids.", "journal": "The Journal of investigative dermatology", "date": "2023-01-28", "authors": "Gu Jing-Jing, Deng Cheng-Cheng, Feng Qing-Lan, Liu Jun, Zhu Ding-Heng, Cheng Qing, Rong Zhili, Yang Bin", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" } ], "reference": [ { "type": "PubMed", "id": "36716919", "url": "https://glygen.org/publication/PubMed/36716919" } ] }, { "title": "TWEAK and Fn14 is overexpressed in immune-mediated necrotizing myopathy: implications for muscle damage and repair.", "journal": "Rheumatology (Oxford, England)", "date": "2023-03-14", "authors": "Yang Mengge, Ge Huizhen, Ji Suqiong, Li Yue, Xu Li, Bi Zhuajin, Bu Bitao", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" } ], "reference": [ { "type": "PubMed", "id": "36916753", "url": "https://glygen.org/publication/PubMed/36916753" } ] }, { "title": "Sclerostin and TNF-related weak inducer of apoptosis: can they be important in the patients with glomerulonephritis?", "journal": "Revista da Associacao Medica Brasileira (1992)", "date": "2023", "authors": "Ozer Hakan, Baloglu \u0130smail, Aykut Talat, Demirci Mehmet Ali, Aydemir Fatma Humeyra Yerlikaya, Turkmen Kultigin", "evidence": [ { "database": "RefSeq", "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800" } ], "reference": [ { "type": "PubMed", "id": "37466605", "url": "https://glygen.org/publication/PubMed/37466605" } ] }, { "title": "TRAF2-mediated activation of NF-kappa B by TNF receptor 2 and CD40.", "journal": "Science (New York, N.Y.)", "date": "1995", "authors": "Rothe M, Sarma V, Dixit VM, Goeddel DV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "7544915", "url": "https://glygen.org/publication/PubMed/7544915" } ] }, { "title": "Association of a RING finger protein with the cytoplasmic domain of the human type-2 tumour necrosis factor receptor.", "journal": "The Biochemical journal", "date": "1995", "authors": "Song HY, Donner DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "7639698", "url": "https://glygen.org/publication/PubMed/7639698" } ] }, { "title": "The transmembrane form of tumor necrosis factor is the prime activating ligand of the 80 kDa tumor necrosis factor receptor.", "journal": "Cell", "date": "1995", "authors": "Grell M, Douni E, Wajant H, Lohden M, Clauss M, Maxeiner B, Georgopoulos S, Lesslauer W, Kollias G, Pfizenmaier K, Scheurich P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "8521496", "url": "https://glygen.org/publication/PubMed/8521496" } ] }, { "title": "TRAF5, an activator of NF-kappaB and putative signal transducer for the lymphotoxin-beta receptor.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Nakano H, Oshima H, Chung W, Williams-Abbott L, Ware CF, Yagita H, Okumura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "8663299", "url": "https://glygen.org/publication/PubMed/8663299" } ] }, { "title": "Anatomy of TRAF2. Distinct domains for nuclear factor-kappaB activation and association with tumor necrosis factor signaling proteins.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Takeuchi M, Rothe M, Goeddel DV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "8702708", "url": "https://glygen.org/publication/PubMed/8702708" } ] }, { "title": "Lymphotoxin-beta receptor signaling complex: role of tumor necrosis factor receptor-associated factor 3 recruitment in cell death and activation of nuclear factor kappaB.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "VanArsdale TL, VanArsdale SL, Force WR, Walter BN, Mosialos G, Kieff E, Reed JC, Ware CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "9122217", "url": "https://glygen.org/publication/PubMed/9122217" } ] }, { "title": "Crucial role of tumor necrosis factor (TNF) receptor 2 and membrane-bound TNF in experimental cerebral malaria.", "journal": "European journal of immunology", "date": "1997", "authors": "Lucas R, Juillard P, Decoster E, Redard M, Burger D, Donati Y, Giroud C, Monso-Hinard C, De Kesel T, Buurman WA, Moore MW, Dayer JM, Fiers W, Bluethmann H, Grau GE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668541" } ], "reference": [ { "type": "PubMed", "id": "9247583", "url": "https://glygen.org/publication/PubMed/9247583" } ] }, { "title": "A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function.", "journal": "Nature", "date": "1997", "authors": "Anderson DM, Maraskovsky E, Billingsley WL, Dougall WC, Tometsko ME, Roux ER, Teepe MC, DuBose RF, Cosman D, Galibert L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676594" } ], "reference": [ { "type": "PubMed", "id": "9367155", "url": "https://glygen.org/publication/PubMed/9367155" } ] }, { "title": "TWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosis.", "journal": "J. 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