{ "uniprot_canonical_ac": "O14836-1", "uniprot_ac": "O14836", "uniprot_id": "TR13B_HUMAN", "mass": { "chemical_mass": 31816.0, "monoisotopic_mass": 31816.0 }, "refseq": { "ac": "NP_036584", "name": "tumor necrosis factor receptor superfamily member 13B", "summary": "The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036584" }, "gene_names": [ { "name": "TNFRSF13B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14836", "id": "O14836" }, { "name": "CD267; CVID; CVID2; IGAD2; RYZN; TACI; TNFRSF14B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036584", "id": "NP_036584" }, { "name": "TACI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14836", "id": "O14836" }, { "name": "TNFRSF13B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036584", "id": "NP_036584" } ], "protein_names": [ { "name": "Tumor necrosis factor receptor superfamily member 13B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14836" }, { "name": "Transmembrane activator and CAML interactor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14836" }, { "name": "transmembrane activator and CAML interactor; tumor necrosis factor receptor 13B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036584", "id": "NP_036584" }, { "name": "tumor necrosis factor receptor superfamily member 13B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036584", "id": "NP_036584" } ], "function": [ { "annotation": "A BAFF ligand-based CAR-T cell targeting three receptors and multiple B cell cancers. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_036584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036584" }, { "database": "PubMed", "id": "35017485", "url": "https://glygen.org/publication/PubMed/35017485" } ] }, { "annotation": "Features of Isoforms of Human Soluble TACI.", "evidence": [ { "database": "RefSeq", "id": "NP_036584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036584" }, { "database": "PubMed", "id": "37272840", "url": "https://glygen.org/publication/PubMed/37272840" } ] }, { "annotation": "Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T-cell function and the regulation of humoral immunity.", "evidence": [ { "database": "UniProtKB", "id": "O14836", "url": "https://www.uniprot.org/uniprot/O14836#function" }, { "database": "PubMed", "id": "10973284", "url": "https://glygen.org/publication/PubMed/10973284" }, { "database": "PubMed", "id": "10956646", "url": "https://glygen.org/publication/PubMed/10956646" } ] }, { "annotation": "TACI variants as underlying condition in autoimmune neutropenia: Description of four cases.", "evidence": [ { "database": "RefSeq", "id": "NP_036584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036584" }, { "database": "PubMed", "id": "35686370", "url": "https://glygen.org/publication/PubMed/35686370" } ] }, { "annotation": "TNFRSF13B gene mutation in familial acute myeloid leukemia: A new piece in the complex scenario of hereditary predisposition?", "evidence": [ { "database": "RefSeq", "id": "NP_036584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036584" }, { "database": "PubMed", "id": "37534633", "url": "https://glygen.org/publication/PubMed/37534633" } ] }, { "annotation": "TNFRSF13B/TACI Mutations in Patients with Chronic Rhinosinusitis with Nasal Polyps.", "evidence": [ { "database": "RefSeq", "id": "NP_036584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036584" }, { "database": "PubMed", "id": "36305039", "url": "https://glygen.org/publication/PubMed/36305039" } ] }, { "annotation": "The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_036584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036584" } ] } ], "disease": [ { "disease_id": "DOID:0060025", "recommended_name": { "id": "DOID:0060025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060025", "name": "immunoglobulin alpha deficiency", "description": "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor." }, "synonyms": [ { "id": "DOID:0060025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060025", "name": "IgA deficiency", "description": "" }, { "id": "DOID:0060025", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060025", "name": "gamma-A-globulin deficiency", "description": "" }, { "id": "MONDO:0010019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010019", "name": "secretory component deficiency", "description": "" }, { "id": "MONDO:0010019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010019", "name": "secretory component deficiency", "description": "" }, { "id": "MONDO:0010019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010019", "name": "IgA deficiency, secretory", "description": "" }, { "id": "MONDO:0007644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007644", "name": "IgAD1", "description": "Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders." }, { "id": "MONDO:0007644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007644", "name": "IgAD1", "description": "" }, { "id": "MONDO:0007644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007644", "name": "immunoglobulin A deficiency, autosomal recessive, autosomal dominant, isolated cases", "description": "" }, { "id": "MONDO:0007644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007644", "name": "IMMUNOGLOBULIN A deficiency 1", "description": "" }, { "id": "MONDO:0007644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007644", "name": "IgA, selective deficiency of", "description": "" }, { "id": "MONDO:0007644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007644", "name": "Immunoglobulin A, selective deficiency of", "description": "" }, { "id": "MONDO:0007644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007644", "name": "gamma-A-globulin, selective deficiency of", "description": "" }, { "id": "MONDO:0012291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012291", "name": "immunoglobulin A deficiency 2", "description": "Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene." }, { "id": "MONDO:0012291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012291", "name": "Immunoglobulin a deficiency type 2", "description": "" }, { "id": "MONDO:0012291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012291", "name": "TNFRSF13B selective IgA deficiency disease", "description": "" }, { "id": "MONDO:0012291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012291", "name": "immunoglobulin a deficiency 2", "description": "" }, { "id": "MONDO:0012291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012291", "name": "selective IgA deficiency disease caused by mutation in TNFRSF13B", "description": "" }, { "id": "MONDO:0012291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012291", "name": "IGAD2", "description": "" }, { "id": "MONDO:0012291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012291", "name": "IMMUNOGLOBULIN A deficiency 2", "description": "" }, { "id": "MONDO:0012291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012291", "name": "IgA, selective deficiency of, TACI related", "description": "" }, { "id": "MONDO:0012291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012291", "name": "IgA, selective deficiency of, TACI-related", "description": "" }, { "id": "MONDO:0012291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012291", "name": "Immunoglobulin A, selective deficiency of, TACI related", "description": "" }, { "id": "MONDO:0012291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012291", "name": "Immunoglobulin A, selective deficiency of, TACI-related", "description": "" }, { "id": "MIM:609529", "resource": "MIM", "url": "https://www.omim.org/entry/609529", "name": "Immunoglobulin A deficiency 2", "description": "Immunoglobulin A deficiency 2" } ], "evidence": [ { "id": "609529", "database": "MIM", "url": "https://www.omim.org/entry/609529" } ] }, { "disease_id": "DOID:0081145", "recommended_name": { "id": "DOID:0081145", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081145", "name": "common variable immunodeficiency 2", "description": "A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2." }, "synonyms": [ { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "immunodeficiency, common variable, 2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "immunodeficiency, common variable, 2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "immunodeficiency, common variable, type 2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "CVID2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "antibody deficiency due to TACI defect", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "hypogammaglobulinemia due to TACI deficiency", "description": "" }, { "id": "MIM:240500", "resource": "MIM", "url": "https://www.omim.org/entry/240500", "name": "Immunodeficiency, common variable, 2", "description": "Immunodeficiency, common variable, 2" } ], "evidence": [ { "id": "240500", "database": "MIM", "url": "https://www.omim.org/entry/240500" } ] } ], "snv": [ { "evidence": [ { "id": "O14836", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14836" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 115, "end_pos": 115, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "17", "chr_pos": "16948840", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P115", "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": "rs1268053274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268053274" }, { "id": "rs1268053274", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268053274" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 128, "end_pos": 128, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->HNS).", "chr_id": "17", "chr_pos": "16948801", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14836", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14836" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 131, "end_pos": 131, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "17", "chr_pos": "16948792", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D131", "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": "rs1201167195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201167195" }, { "id": "rs1201167195", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1201167195" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 221, "end_pos": 221, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "17", "chr_pos": "16939767", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S221", "disease": [ { "disease_id": "DOID:0081145", "recommended_name": { "id": "DOID:0081145", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081145", "name": "common variable immunodeficiency 2", "description": "A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2." }, "synonyms": [ { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "immunodeficiency, common variable, 2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "immunodeficiency, common variable, 2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "immunodeficiency, common variable, type 2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "CVID2", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "antibody deficiency due to TACI defect", "description": "" }, { "id": "MONDO:0009413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009413", "name": "hypogammaglobulinemia due to TACI deficiency", "description": "" }, { "id": "MIM:240500", "resource": "MIM", "url": "https://www.omim.org/entry/240500", "name": "Immunodeficiency, common variable, 2", "description": "Immunodeficiency, common variable, 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "64.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "64.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "62.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "88.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "75.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "72.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "51.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "45.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "47.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "47.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "58.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000240505", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000240505" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14836", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14836" } ], "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": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14836" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"chromosome": "17", "start_pos": 16972075, "end_pos": 16933154, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000579315.5", "url": "https://www.ensembl.org/id/ENST00000579315.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464069.1", "url": "https://www.ensembl.org/id/ENSP00000464069.1" } ] } }, { "isoform_ac": "O14836-1", "url": "", "sequence": { "sequence": "MSGLGRSRRGGRSRVDQEERFPQGLWTGVAMRSCPEEQYWDPLLGTCMSCKTICNHQSQRTCAAFCRSLSCRKEQGKFYDHLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRRQRSGEVENNSDNSGRYQGLEHRGSEASPALPGLKLSADQVALVYSTLGLCLCAVLCCFLVAVACFLKKRGDPCSCQPRSRPRQSPAKSSQDHAMEAGSPVSTSPEPVETCSFCFPECRAPTQESAVTPGTPDPTCAGRWGCHTRTTVLQPCPHIPDSGLGIVCVPAQEGGPGA", "length": 293, "header": "sp|O14836-1|TR13B_HUMAN Isoform 1 of Tumor necrosis factor receptor superfamily member 13B OS=Homo sapiens OX=9606 GN=TNFRSF13B PE=1 SV=1 CANONICAL=O14836-1" }, "locus": { "chromosome": "17", "start_pos": 16972075, "end_pos": 16939550, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261652.7", "url": "https://www.ensembl.org/id/ENST00000261652.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000261652.2", "url": "https://www.ensembl.org/id/ENSP00000261652.2" } ] } }, { "isoform_ac": "O14836-2", "url": "", "sequence": { "sequence": "MSGLGRSRRGGRSRVDQEERWSLSCRKEQGKFYDHLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRRQRSGEVENNSDNSGRYQGLEHRGSEASPALPGLKLSADQVALVYSTLGLCLCAVLCCFLVAVACFLKKRGDPCSCQPRSRPRQSPAKSSQDHAMEAGSPVSTSPEPVETCSFCFPECRAPTQESAVTPGTPDPTCAGRWGCHTRTTVLQPCPHIPDSGLGIVCVPAQEGGPGA", "length": 247, "header": "sp|O14836-2|TR13B_HUMAN Isoform 2 of Tumor necrosis factor receptor superfamily member 13B OS=Homo sapiens OX=9606 GN=TNFRSF13B PE=1 SV=1 CANONICAL=O14836-1" }, "locus": { "chromosome": "17", "start_pos": 16972075, "end_pos": 16939550, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583789.1", "url": "https://www.ensembl.org/id/ENST00000583789.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000462952.1", "url": "https://www.ensembl.org/id/ENSP00000462952.1" } ] } }, { "isoform_ac": "O14836-3", "url": "", "sequence": { "sequence": "MSGLGRSRRGGRSRVDQEERFPQGLWTGVAMRSCPEEQYWDPLLGTCMSCKTICNHQSQRTCAAFCRSLSCRKEQGKFYDHLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRRQRSGEVENNSDNSGRYQGLEHRGSEASPAPRGCPAPGTRKSFWDKENFQGEGFHLG", "length": 176, "header": "sp|O14836-3|TR13B_HUMAN Isoform 3 of Tumor necrosis factor receptor superfamily member 13B OS=Homo sapiens OX=9606 GN=TNFRSF13B PE=1 SV=1 CANONICAL=O14836-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "evidence": [ { "id": "O14836", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14836#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Identification of a new member of the tumor necrosis factor family and its receptor, a human ortholog of mouse GITR.", "journal": "Current biology : CB", "date": "1999", "authors": "Gurney AL, Marsters SA, Huang RM, Pitti RM, Mark DT, Baldwin DT, Gray AM, Dowd AD, Brush AD, Heldens AD, Schow AD, Goddard AD, Wood WI, Baker KP, Godowski PJ, Ashkenazi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10074428", "url": "https://glygen.org/publication/PubMed/10074428" } ] }, { "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-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10359578", "url": "https://glygen.org/publication/PubMed/10359578" } ] }, { "title": "BLyS: member of the tumor necrosis factor family and B lymphocyte stimulator.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Moore PA, Belvedere O, Orr A, Pieri K, LaFleur DW, Feng P, Soppet D, Charters M, Gentz R, Parmelee D, Li Y, Galperina O, Giri J, Roschke V, Nardelli B, Carrell J, Sosnovtseva S, Greenfield W, Ruben SM, Olsen HS, Fikes J, Hilbert DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10398604", "url": "https://glygen.org/publication/PubMed/10398604" } ] }, { "title": "Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells.", "journal": "Human molecular genetics", "date": "1999", "authors": "Ezer S, Bayes M, Elomaa O, Schlessinger D, Kere J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10484778", "url": "https://glygen.org/publication/PubMed/10484778" } ] }, { "title": "VEGI, a new member of the TNF family activates nuclear factor-kappa B and c-Jun N-terminal kinase and modulates cell growth.", "journal": "Oncogene", "date": "1999", "authors": "Haridas V, Shrivastava A, Su J, Yu GL, Ni J, Liu D, Chen SF, Ni Y, Ruben SM, Gentz R, Aggarwal BB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10597252", "url": "https://glygen.org/publication/PubMed/10597252" } ] }, { "title": "Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.", "journal": "Nature genetics", "date": "2000", "authors": "Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5669034", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5669034" } ], "reference": [ { "type": "PubMed", "id": "10615125", "url": "https://glygen.org/publication/PubMed/10615125" } ] }, { "title": "TACI is a TRAF-interacting receptor for TALL-1, a tumor necrosis factor family member involved in B cell regulation.", "journal": "J. Exp. 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