{ "uniprot_canonical_ac": "P10600-1", "uniprot_ac": "P10600", "uniprot_id": "TGFB3_HUMAN", "mass": { "chemical_mass": 47328.0, "monoisotopic_mass": 47328.0 }, "refseq": { "ac": "NP_001316867", "name": "transforming growth factor beta-3 proprotein isoform 2 precursor", "summary": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316867" }, "gene_names": [ { "name": "TGFB3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10600", "id": "P10600" }, { "name": "ARVD; ARVD1; LDS5; RNHF; TGF-beta3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316867", "id": "NP_001316867" }, { "name": "TGFB3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316867", "id": "NP_001316867" } ], "protein_names": [ { "name": "Transforming growth factor beta-3 proprotein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10600" }, { "name": "prepro-transforming growth factor beta-3; transforming growth factor beta-3 proprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316867", "id": "NP_001316867" }, { "name": "transforming growth factor beta-3 proprotein isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316867", "id": "NP_001316867" } ], "function": [ { "annotation": "Investigating the Role of TGF-beta Signaling Pathways in Human Corneal Endothelial Cell Primary Culture. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001316867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316867" }, { "database": "PubMed", "id": "37371094", "url": "https://glygen.org/publication/PubMed/37371094" } ] }, { "annotation": "Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3 (By similarity). Interaction with integrins results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-3 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P10600", "url": "https://www.uniprot.org/uniprot/P10600#function" }, { "database": "UniProtKB", "id": "P17125", "url": "https://www.uniprot.org/uniprot/P17125#function" }, { "database": "UniProtKB", "id": "P04202", "url": "https://www.uniprot.org/uniprot/P04202#function" }, { "database": "UniProtKB", "id": "P01137", "url": "https://www.uniprot.org/uniprot/P01137#function" } ] }, { "annotation": "TGF-beta3 in differentiation and function of Tph-like cells and its relevance to disease activity in patients with systemic lupus erythematosus.", "evidence": [ { "database": "RefSeq", "id": "NP_001316867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316867" }, { "database": "PubMed", "id": "36370078", "url": "https://glygen.org/publication/PubMed/36370078" } ] }, { "annotation": "TGFB3 gene mutation associated with mandibular coronoid process hyperplasia: a family investigation.", "evidence": [ { "database": "RefSeq", "id": "NP_001316867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316867" }, { "database": "PubMed", "id": "37246056", "url": "https://glygen.org/publication/PubMed/37246056" } ] }, { "annotation": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001316867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316867" } ] }, { "annotation": "Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively.", "evidence": [ { "database": "UniProtKB", "id": "P10600", "url": "https://www.uniprot.org/uniprot/P10600#function" }, { "database": "UniProtKB", "id": "P04202", "url": "https://www.uniprot.org/uniprot/P04202#function" }, { "database": "UniProtKB", "id": "P01137", "url": "https://www.uniprot.org/uniprot/P01137#function" } ] }, { "annotation": "Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains remain non-covalently linked rendering TGF-beta-3 inactive during storage in extracellular matrix (By similarity). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1 and LRRC32/GARP that control activation of TGF-beta-3 and maintain it in a latent state during storage in extracellular milieus (By similarity). TGF-beta-3 is released from LAP by integrins: integrin-binding results in distortion of the LAP chain and subsequent release of the active TGF-beta-3 (By similarity). Once activated following release of LAP, TGF-beta-3 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P10600", "url": "https://www.uniprot.org/uniprot/P10600#function" }, { "database": "UniProtKB", "id": "P17125", "url": "https://www.uniprot.org/uniprot/P17125#function" }, { "database": "UniProtKB", "id": "P04202", "url": "https://www.uniprot.org/uniprot/P04202#function" }, { "database": "UniProtKB", "id": "P01137", "url": "https://www.uniprot.org/uniprot/P01137#function" } ] } ], "disease": [ { "disease_id": "DOID:0050431", "recommended_name": { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "arrhythmogenic right ventricular cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle." }, "synonyms": [ { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "arrhythmogenic right ventricular dysplasia/cardiomyopathy", "description": "" }, { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "ARVC", "description": "" }, { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "ARVC cardiomyopathy", "description": "" }, { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "ARVD", "description": "" }, { "id": "DOID:0050431", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050431", "name": "arrhythmogenic right ventricular dysplasia", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia 1", "description": "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene." }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "ARVC1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "ARVD1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "TGFB3 arrhythmogenic right ventricular cardiomyopathy", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular cardiomyopathy 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia type 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia, familial, type 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "familial arrhythmogenic right ventricular dysplasia 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "Uhl anomaly", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia, familial, 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "cardiomyopathy, right ventricular dilated", "description": "" }, { "id": "MIM:107970", "resource": "MIM", "url": "https://www.omim.org/entry/107970", "name": "Arrhythmogenic right ventricular dysplasia, familial, 1", "description": "Arrhythmogenic right ventricular dysplasia, familial, 1" } ], "evidence": [ { "id": "107970", "database": "MIM", "url": "https://www.omim.org/entry/107970" } ] }, { "disease_id": "DOID:0070236", "recommended_name": { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "Loeys-Dietz syndrome 5", "description": "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24." }, "synonyms": [ { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "LDS5", "description": "" }, { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "RNHF", "description": "" }, { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "Reinhoff syndrome", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Rienhoff syndrome", "description": "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Loeys-Dietz syndrome type 5", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Rienhoff syndrome", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "LDS5", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Loeys-Dietz syndrome 5", "description": "" }, { "id": "MIM:615582", "resource": "MIM", "url": "https://www.omim.org/entry/615582", "name": "Loeys-Dietz syndrome 5", "description": "Loeys-Dietz syndrome 5" } ], "evidence": [ { "id": "615582", "database": "MIM", "url": "https://www.omim.org/entry/615582" } ] }, { "disease_id": "DOID:0110070", "recommended_name": { "id": "DOID:0110070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110070", "name": "arrhythmogenic right ventricular dysplasia 1", "description": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24." }, "synonyms": [ { "id": "DOID:0110070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110070", "name": "ARVC1", "description": "" }, { "id": "DOID:0110070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110070", "name": "Uhl anomaly", "description": "" }, { "id": "DOID:0110070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110070", "name": "arrhythmogenic right ventricular cardiomyopathy 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia 1", "description": "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene." }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "ARVC1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "ARVD1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "TGFB3 arrhythmogenic right ventricular cardiomyopathy", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular cardiomyopathy 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia type 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia, familial, type 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "familial arrhythmogenic right ventricular dysplasia 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "Uhl anomaly", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "arrhythmogenic right ventricular dysplasia, familial, 1", "description": "" }, { "id": "MONDO:0007152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007152", "name": "cardiomyopathy, right ventricular dilated", "description": "" }, { "id": "MIM:107970", "resource": "MIM", "url": "https://www.omim.org/entry/107970", "name": "Arrhythmogenic right ventricular dysplasia, familial, 1", "description": "Arrhythmogenic right ventricular dysplasia, familial, 1" } ], "evidence": [ { "id": "107970", "database": "MIM", "url": "https://www.omim.org/entry/107970" } ] } ], "snv": [ { "evidence": [ { "id": "rs1297280833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297280833" }, { "id": "rs1297280833", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297280833" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 128, "end_pos": 128, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "14", "chr_pos": "75971688", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1329428163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1329428163" }, { "id": "rs1329428163", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1329428163" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 137, "end_pos": 137, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->NVA).", "chr_id": "14", "chr_pos": "75971662", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1463969797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463969797" }, { "id": "rs1463969797", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463969797" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 137, "end_pos": 137, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->NVF).", "chr_id": "14", "chr_pos": "75971661", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10600", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10600" }, { "id": "rs1421008373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421008373" }, { "id": "rs1421008373", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421008373" }, { "id": "rs1421008373", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1421008373#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 142, "end_pos": 142, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NRT->YRT).", "chr_id": "14", "chr_pos": "75971647", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N142", "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", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1594788076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1594788076" }, { "id": "rs1594788076", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1594788076" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 144, "end_pos": 144, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRN).", "chr_id": "14", "chr_pos": "75971640", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T144", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0070236", "recommended_name": { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "Loeys-Dietz syndrome 5", "description": "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24." }, "synonyms": [ { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "LDS5", "description": "" }, { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "RNHF", "description": "" }, { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "Reinhoff syndrome", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Rienhoff syndrome", "description": "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Loeys-Dietz syndrome type 5", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Rienhoff syndrome", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "LDS5", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Loeys-Dietz syndrome 5", "description": "" }, { "id": "MIM:615582", "resource": "MIM", "url": "https://www.omim.org/entry/615582", "name": "Loeys-Dietz syndrome 5", "description": "Loeys-Dietz syndrome 5" } ] } ] }, { "evidence": [ { "id": "rs752691299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752691299" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 147, "end_pos": 147, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLF->NLS).", "chr_id": "14", "chr_pos": "75971631", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F147", "disease": [ { "disease_id": "DOID:0070236", "recommended_name": { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "Loeys-Dietz syndrome 5", "description": "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24." }, "synonyms": [ { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "LDS5", "description": "" }, { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "RNHF", "description": "" }, { "id": "DOID:0070236", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070236", "name": "Reinhoff syndrome", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Rienhoff syndrome", "description": "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Loeys-Dietz syndrome type 5", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Rienhoff syndrome", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "LDS5", "description": "" }, { "id": "MONDO:0014262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014262", "name": "Loeys-Dietz syndrome 5", "description": "" }, { "id": "MIM:615582", "resource": "MIM", "url": "https://www.omim.org/entry/615582", "name": "Loeys-Dietz syndrome 5", "description": "Loeys-Dietz syndrome 5" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1379443147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379443147" }, { "id": "rs1379443147", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379443147" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 159, "end_pos": 159, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NTS).", "chr_id": "14", "chr_pos": "75971596", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1226495999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226495999" }, { "id": "rs1226495999", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226495999" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 203, "end_pos": 203, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "14", "chr_pos": "75971165", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P10600", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P10600" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 47, "end_pos": 47, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (ILS->NLS).", "chr_id": "14", "chr_pos": "75980754", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I47", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - 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"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 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", 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"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", 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P10600", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10600" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10600" } ], "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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"UniProtKB", "categories": [ "Protein" ] }, { "id": "P10600-2", "url": "https://www.uniprot.org/uniprot/P10600-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKMHLQRALVVLALLNFATVSLSLSTCTTLDFGHIKKKRVEAIRGQILSKLRLTSPPEPTVMTHVPYQVLALYNSTRELLEEMHGEREEGCTQENTESEYYAKEIHKFDMIQGLAEHNELAVCPKGITSKVFRFNVSSVEKNRTNLFRAEFRVLRVPNPSSKRNEQRIELFQILRPDEHIAKQRYIGGKNLPTRGTAEWLSFDVTDTVREWLLRRESNLGLEISIHCPCHTFQPNGDILENIHEVMEIKFKGVDNEDDHGRGDLGRLKKQKDHHNPHLILMMIPPHRLDNPGQGGQRKKRALDTNYCFRNLEENCCVRPLYIDFRQDLGWKWVHEPKGYYANFCSGPCPYLRSADTTHSTVLGLYNTLNPEASASPCCVPQDLEPLTILYYVGRTPKVEQLSNMVVKSCKCS", "length": 412, "header": "sp|P10600-1|TGFB3_HUMAN Isoform 1 of Transforming growth factor beta-3 proprotein OS=Homo sapiens OX=9606 GN=TGFB3 PE=1 SV=1 CANONICAL=P10600-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PGK5-1", "url": "", "sequence": { "sequence": "MKMHLQRALVVLALLNFATVSLSLSTCTTLDFGHIKKKRVEAIRGQILSKLRLTSPPEPTVMTHVPYQVLALYNSTRELLEEMHGEREEGCTQENTESEYYAKEIH", "length": 106, "header": "tr|A0A6Q8PGK5-1|TGFB3_HUMAN Computationally mapped isoform of Transforming growth factor beta-3 proprotein OS=Homo sapiens OX=9606 GN=TGFB3 PE=1 SV=1 CANONICAL=P10600-1" }, "locus": { "chromosome": "14", "start_pos": 75980893, "end_pos": 75980576, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555193.1", "url": "https://www.ensembl.org/id/ENST00000555193.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502307.1", "url": "https://www.ensembl.org/id/ENSP00000502307.1" } ] } }, { "isoform_ac": "P10600-1", "url": "", "sequence": { "sequence": "MKMHLQRALVVLALLNFATVSLSLSTCTTLDFGHIKKKRVEAIRGQILSKLRLTSPPEPTVMTHVPYQVLALYNSTRELLEEMHGEREEGCTQENTESEYYAKEIHKFDMIQGLAEHNELAVCPKGITSKVFRFNVSSVEKNRTNLFRAEFRVLRVPNPSSKRNEQRIELFQILRPDEHIAKQRYIGGKNLPTRGTAEWLSFDVTDTVREWLLRRESNLGLEISIHCPCHTFQPNGDILENIHEVMEIKFKGVDNEDDHGRGDLGRLKKQKDHHNPHLILMMIPPHRLDNPGQGGQRKKRALDTNYCFRNLEENCCVRPLYIDFRQDLGWKWVHEPKGYYANFCSGPCPYLRSADTTHSTVLGLYNTLNPEASASPCCVPQDLEPLTILYYVGRTPKVEQLSNMVVKSCKCS", "length": 412, "header": "sp|P10600-1|TGFB3_HUMAN Isoform 1 of Transforming growth factor beta-3 proprotein OS=Homo sapiens OX=9606 GN=TGFB3 PE=1 SV=1 CANONICAL=P10600-1" }, "locus": { "chromosome": "14", "start_pos": 75980893, "end_pos": 75959190, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556674.2", "url": "https://www.ensembl.org/id/ENST00000556674.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000502685.1", "url": "https://www.ensembl.org/id/ENSP00000502685.1" } ] } }, { "isoform_ac": "P10600-2", "url": "", "sequence": { "sequence": "MKMHLQRALVVLALLNFATVSLSLSTCTTLDFGHIKKKRVEAIRGQILSKLRLTSPPEPTVMTHVPYQVLALYNSTRELLEEMHGEREEGCTQENTESEYYAKEIHKFDMIQGLAEHNELAVCPKGITSKVFRFNVSSVEKNRTNLFRAEFRVLRVPNPSSKRNEQRIELFQILRPDEHIAKQRYIGGKNLPTRGTAEWLSFDVTDTVREWLLRRESNLGLEISIHCPCHTFQPNGDILENIHEVMEIKFKGVDNEDDHGRGDLGRLKKQKDHHNPHLILMMIPPHRLDNPGQGGQRKKRALDTNYCFR", "length": 309, "header": "sp|P10600-2|TGFB3_HUMAN Isoform 2 of Transforming growth factor beta-3 proprotein OS=Homo sapiens OX=9606 GN=TGFB3 PE=1 SV=1 CANONICAL=P10600-1" }, "locus": { "chromosome": "14", "start_pos": 75980893, "end_pos": 75963315, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556285.1", "url": "https://www.ensembl.org/id/ENST00000556285.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451110.1", "url": "https://www.ensembl.org/id/ENSP00000451110.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 128, "start_aa": "Thr", "end_pos": 128, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr128", "evidence": [ { "id": "P10600", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P10600" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 135, "start_aa": "Asn", "end_pos": 135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn135", "evidence": [ { "id": "1837", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1837" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 135, "start_aa": "Asn", "end_pos": 135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn135", "evidence": [ { "id": "1837", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1837" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 135, "start_aa": "Asn", "end_pos": 135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn135", "evidence": [ { "id": "1837", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1837" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 135, "start_aa": "Asn", "end_pos": 135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn135", "evidence": [ { "id": "P10600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10600#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 142, "start_aa": "Asn", "end_pos": 142, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn142", "evidence": [ { "id": "P10600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10600#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 357, "start_aa": "Thr", "end_pos": 357, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr357", "evidence": [ { "id": "P10600", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "P10600", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10600#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "P10600", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins.", "journal": "The EMBO journal", "date": "1999", "authors": "Talts JF, Andac Z, Gohring W, Brancaccio A, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10022829", "url": "https://glygen.org/publication/PubMed/10022829" } ] }, { "title": "The integrin alpha v beta 6 binds and activates latent TGF beta 1: a mechanism for regulating pulmonary inflammation and fibrosis.", "journal": "Cell", "date": "1999", "authors": "Munger JS, Huang X, Kawakatsu H, Griffiths MJ, Dalton SL, Wu J, Pittet JF, Kaminski N, Garat C, Matthay MA, Rifkin DB, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "10025398", "url": "https://glygen.org/publication/PubMed/10025398" } ] }, { "title": "Agrin in Alzheimer's disease: altered solubility and abnormal distribution within microvasculature and brain parenchyma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Donahue JE, Berzin TM, Rafii MS, Glass DJ, Yancopoulos GD, Fallon JR, Stopa EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10339611", "url": "https://glygen.org/publication/PubMed/10339611" } ] }, { "title": "Ultrastructural distribution of 36-kD microfibril-associated glycoprotein (MAGP-36) in human and bovine tissues.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "1999", "authors": "Toyoshima T, Yamashita K, Furuichi H, Shishibori T, Itano T, Kobayashi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "10424889", "url": "https://glygen.org/publication/PubMed/10424889" } ] }, { "title": "Tropoelastin binding to fibulins, nidogen-2 and other extracellular matrix proteins.", "journal": "FEBS letters", "date": "1999", "authors": "Sasaki T, Gohring W, Miosge N, Abrams WR, Rosenbloom J, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "10544250", "url": "https://glygen.org/publication/PubMed/10544250" } ] }, { "title": "Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2000", "authors": "Dallas SL, Keene DR, Bruder SP, Saharinen J, Sakai LY, Mundy GR, Bonewald LF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "10646116", "url": "https://glygen.org/publication/PubMed/10646116" } ] }, { "title": "Agrin binds to beta-amyloid (Abeta), accelerates abeta fibril formation, and is localized to Abeta deposits in Alzheimer's disease brain.", "journal": "Molecular and cellular neurosciences", "date": "2000", "authors": "Cotman SL, Halfter W, Cole GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": 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