[ { "uniprot_canonical_ac": "P35556-1", "uniprot_ac": "P35556", "uniprot_id": "FBN2_HUMAN", "mass": { "chemical_mass": 314775.0, "monoisotopic_mass": 314775.0 }, "refseq": { "ac": "NP_001990", "name": "fibrillin-2 isoform 1 precursor", "summary": "The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" }, "gene_names": [ { "name": "FBN2", "type": "recommended", "evidence": [ { "id": "P35556", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35556" } ] }, { "name": "CCA", "type": "synonym", "evidence": [ { "id": "NP_001990", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" } ] }, { "name": "DA9", "type": "synonym", "evidence": [ { "id": "NP_001990", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" } ] }, { "name": "EOMD", "type": "synonym", "evidence": [ { "id": "NP_001990", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" } ] }, { "name": "FBN2", "type": "synonym", "evidence": [ { "id": "NP_001990", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" } ] } ], "protein_names": [ { "name": "Fibrillin-2", "type": "recommended", "evidence": [ { "id": "P35556", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35556/entry#names_and_taxonomy" } ] }, { "name": "fibrillin 5", "type": "synonym", "evidence": [ { "id": "NP_001990", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" } ] }, { "name": "fibrillin-2 isoform 1 precursor", "type": "synonym", "evidence": [ { "id": "NP_001990", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" } ] } ], "function": [ { "annotation": "A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer.", "evidence": [ { "database": "RefSeq", "id": "NP_001990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" }, { "database": "PubMed", "id": "37337404", "url": "https://glygen.org/publication/PubMed/37337404" } ] }, { "annotation": "Effect of Fibrillin-2 on Differentiation into Periodontal Ligament Stem Cell-Like Cells Derived from Human-Induced Pluripotent Stem Cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" }, { "database": "PubMed", "id": "38534877", "url": "https://glygen.org/publication/PubMed/38534877" } ] }, { "annotation": "FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.", "evidence": [ { "database": "RefSeq", "id": "NP_001990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" }, { "database": "PubMed", "id": "38602424", "url": "https://glygen.org/publication/PubMed/38602424" } ] }, { "annotation": "Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.", "evidence": [ { "database": "UniProtKB", "id": "P35556", "url": "https://www.uniprot.org/uniprotkb/P35556#function" }, { "database": "UniProtKB", "id": "Q61555", "url": "https://www.uniprot.org/uniprotkb/Q61555#function" } ] }, { "annotation": "Fibulin-2 is an extracellular matrix inhibitor of oligodendrocytes relevant to multiple sclerosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" }, { "database": "PubMed", "id": "38743490", "url": "https://glygen.org/publication/PubMed/38743490" } ] }, { "annotation": "Hormone secreted by trophoblasts that promotes trophoblast invasiveness (PubMed:32329225). Has glucogenic activity: is able to increase plasma glucose levels (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P35556", "url": "https://www.uniprot.org/uniprotkb/P35556#function" }, { "database": "UniProtKB", "id": "Q61555", "url": "https://www.uniprot.org/uniprotkb/Q61555#function" }, { "database": "PubMed", "id": "32329225", "url": "https://glygen.org/publication/PubMed/32329225" } ] }, { "annotation": "The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" } ] } ], "disease": [ { "disease_id": "DOID:0050646", "recommended_name": { "id": "DOID:0050646", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet." }, "synonyms": [ { "id": "DOID:0050646", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050646", "name": "Arthrogryposis Multiplex Congenita", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis multiplex congenita", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "AMC", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "DA1A", "description": "" }, { "id": "MONDO:0007157", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007157", "name": "arthrogryposis, distal, type 1A", "description": "" }, { "id": "MIM:108120", "resource": "MIM", "url": "https://www.omim.org/entry/108120", "name": "Arthrogryposis, distal, 1A", "description": "Arthrogryposis, distal, 1A" } ], "unlinked_id_list": [ "DOID:0111604" ], "evidence": [ { "id": "0050646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050646" } ] }, { "disease_id": "DOID:0060249", "recommended_name": { "id": "DOID:0060249", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ] }, { "disease_id": "DOID:0111595", "recommended_name": { "id": "DOID:0111595", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111595", "name": "congenital contractural arachnodactyly", "description": "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3." }, "synonyms": [ { "id": "DOID:0111595", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111595", "name": "Beals syndrome", "description": "" }, { "id": "DOID:0111595", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111595", "name": "Beals-Hecht syndrome", "description": "" }, { "id": "DOID:0111595", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111595", "name": "CCA", "description": "" }, { "id": "DOID:0111595", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111595", "name": "arachnodactyly, contractural Beals type", "description": "" }, { "id": "DOID:0111595", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111595", "name": "contractures, multiple with arachnodactyly", "description": "" }, { "id": "DOID:0111595", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111595", "name": "distal arthrogryposis type 9", "description": "" }, { "id": "DOID:0111595", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111595", "name": "ear anomalies-contractures-dysplasia of bone with kyphoscoliosis", "description": "" }, { "id": "MONDO:0007363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007363", "name": "congenital contractural arachnodactyly", "description": "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia." }, { "id": "MONDO:0007363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007363", "name": "Beals syndrome", "description": "" }, { "id": "MONDO:0007363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007363", "name": "Beals-Hecht syndrome", "description": "" }, { "id": "MONDO:0007363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007363", "name": "CCA", "description": "" }, { "id": "MONDO:0007363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007363", "name": "CCA syndrome", "description": "" }, { "id": "MONDO:0007363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007363", "name": "distal arthrogryposis type 9", "description": "" }, { "id": "MONDO:0007363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007363", "name": "DA9", "description": "" }, { "id": "MONDO:0007363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007363", "name": "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis", "description": "" }, { "id": "MONDO:0007363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007363", "name": "arachnodactyly, contractural Beals type", "description": "" }, { "id": "MONDO:0007363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007363", "name": "arthrogryposis, distal, type 9", "description": "" }, { "id": "MONDO:0007363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007363", "name": "contractures, multiple with arachnodactyly", "description": "" }, { "id": "MIM:121050", "resource": "MIM", "url": "https://www.omim.org/entry/121050", "name": "Contractural arachnodactyly, congenital", "description": "Contractural arachnodactyly, congenital" } ], "unlinked_id_list": [], "evidence": [ { "id": "121050", "database": "MIM", "url": "https://www.omim.org/entry/121050" }, { "id": "0111595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111595" } ] }, { "disease_id": "DOID:14323", "recommended_name": { "id": "DOID:14323", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens." }, "synonyms": [ { "id": "DOID:14323", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14323", "name": "Marfan's syndrome", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome", "description": "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "MFS", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "MFS1", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome type 1", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome, type 1", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan's syndrome", "description": "" }, { "id": "MIM:154700", "resource": "MIM", "url": "https://www.omim.org/entry/154700", "name": "Marfan syndrome", "description": "Marfan syndrome" } ], "unlinked_id_list": [], "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ] }, { "disease_id": "MONDO:0014501", "recommended_name": { "id": "MONDO:0014501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014501", "name": "macular degeneration, early-onset", "description": "" }, "synonyms": [ { "id": "MONDO:0014501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014501", "name": "macular degeneration, early-onset", "description": "" }, { "id": "MONDO:0014501", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014501", "name": "EOMD", "description": "" }, { "id": "MIM:616118", "resource": "MIM", "url": "https://www.omim.org/entry/616118", "name": "Macular degeneration, early-onset", "description": "Macular degeneration, early-onset" } ], "unlinked_id_list": [], "evidence": [ { "id": "616118", "database": "MIM", "url": "https://www.omim.org/entry/616118" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "51.92", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "45.49", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "59.09", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "66.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "68.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "60.54", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "59.11", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "54.97", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "61.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "51.27", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000138829", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138829" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P35556", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35556" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO: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: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: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: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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO: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: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: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: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:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P35556", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35556" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P35556", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35556" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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", 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35556", "url": "https://www.uniprot.org/uniprotkb/P35556" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "gene": [ { "name": "FBN2", "url": 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"cd11304", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11304", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBN2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBN2", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "2201", "url": "https://www.ncbi.nlm.nih.gov/gene/2201", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1236", "url": "https://glyconnect.expasy.org/browser/proteins/1236", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycomics" ] }, { "id": "3604", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3604", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "2201", "url": "https://hpo.jax.org/browse/gene/NCBIGene:2201", "database": "HPO", "categories": [ "Other" ] }, { "id": "1134642", "url": "https://www.iedb.org/epitope/1134642", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1134643", "url": "https://www.iedb.org/epitope/1134643", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1147695", "url": "https://www.iedb.org/epitope/1147695", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1147696", "url": "https://www.iedb.org/epitope/1147696", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1174297", "url": "https://www.iedb.org/epitope/1174297", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1174298", "url": "https://www.iedb.org/epitope/1174298", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1859034", "url": "https://www.iedb.org/epitope/1859034", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2006824", "url": "https://www.iedb.org/epitope/2006824", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2008047", "url": "https://www.iedb.org/epitope/2008047", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2008132", "url": "https://www.iedb.org/epitope/2008132", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2010090", "url": "https://www.iedb.org/epitope/2010090", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2015802", "url": "https://www.iedb.org/epitope/2015802", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2017999", "url": "https://www.iedb.org/epitope/2017999", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2030671", "url": "https://www.iedb.org/epitope/2030671", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2040615", "url": "https://www.iedb.org/epitope/2040615", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2043588", "url": "https://www.iedb.org/epitope/2043588", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2260236", "url": "https://www.iedb.org/epitope/2260236", "database": "IEDB", "categories": [ "Other" ] }, { "id": "447715", "url": "https://www.iedb.org/epitope/447715", "database": "IEDB", "categories": [ "Other" ] }, { "id": "460247", "url": "https://www.iedb.org/epitope/460247", "database": "IEDB", "categories": [ "Other" ] }, { "id": "467286", "url": "https://www.iedb.org/epitope/467286", "database": "IEDB", "categories": [ "Other" ] }, { "id": "542430", "url": "https://www.iedb.org/epitope/542430", "database": "IEDB", "categories": [ "Other" ] }, { "id": "622982", "url": "https://www.iedb.org/epitope/622982", "database": "IEDB", "categories": [ "Other" ] }, { "id": "795232", "url": "https://www.iedb.org/epitope/795232", "database": "IEDB", "categories": [ "Other" ] }, { "id": "837589", "url": "https://www.iedb.org/epitope/837589", "database": "IEDB", "categories": [ "Other" ] }, { "id": "P35556", "url": "https://www.ebi.ac.uk/intact/interactors/id:P35556*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000152", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000152", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001881", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001881", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009030", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009030", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013032", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013032", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017878", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017878", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018097", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018097", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024731", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024731", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR026823", "url": "https://www.ebi.ac.uk/interpro/entry/IPR026823", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036773", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036773", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040872", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040872", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR049388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR049388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR049883", "url": "https://www.ebi.ac.uk/interpro/entry/IPR049883", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR051145", "url": "https://www.ebi.ac.uk/interpro/entry/IPR051145", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR052080", "url": "https://www.ebi.ac.uk/interpro/entry/IPR052080", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2201", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:2201", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "121050", "url": "http://www.omim.org/entry/121050", "database": "MIM", "categories": [ "Other" ] }, { "id": "612570", "url": "http://www.omim.org/entry/612570", "database": "MIM", "categories": [ "Other" ] }, { "id": "616118", "url": "http://www.omim.org/entry/616118", "database": "MIM", "categories": [ "Other" ] }, { "id": "CTPLDQC", "url": "https://omabrowser.org/oma/group/CTPLDQC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "A0A9H4AZX0", "url": "https://www.orthodb.org/?gene=A0A9H4AZX0", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "D6RJI3", "url": "https://www.orthodb.org/?gene=D6RJI3", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "E9PHW4", "url": "https://www.orthodb.org/?gene=E9PHW4", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "P35556", "url": "https://www.orthodb.org/?gene=P35556", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24040", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24040", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24040:SF7", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24040:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47333", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47333", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47333:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47333:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00683", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00683", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF07645", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF07645", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF12661", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF12661", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF12662", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF12662", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF12947", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF12947", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF14670", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF14670", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF18193", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF18193", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF21364", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF21364", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "P35556", "url": "https://pharos.nih.gov/targets/P35556", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:P35556", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:P35556", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "R-HSA-1566948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1566948", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "NP_001990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040", "database": "UniCarbKB", "categories": [] }, { "id": "A0A9H4AZX0", "url": "https://www.uniprot.org/uniprotkb/A0A9H4AZX0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A9H4AZX0-1", "url": "https://www.uniprot.org/uniprotkb/A0A9H4AZX0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RJI3", "url": "https://www.uniprot.org/uniprotkb/D6RJI3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RJI3-1", "url": "https://www.uniprot.org/uniprotkb/D6RJI3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PHW4", "url": "https://www.uniprot.org/uniprotkb/E9PHW4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PHW4-1", "url": "https://www.uniprot.org/uniprotkb/E9PHW4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35556", "url": "https://www.uniprot.org/uniprotkb/P35556", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35556-1", "url": "https://www.uniprot.org/uniprotkb/P35556-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35556-2", "url": "https://www.uniprot.org/uniprotkb/P35556-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGRRRRLCLQLYFLWLGCVVLWAQGTAGQPQPPPPKPPRPQPPPQQVRSATAGSEGGFLAPEYREEGAAVASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCGDGFCSRPNMCTCSSGQISSTCGSKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVCENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCCATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGICQGGNCINTVGSFECRCPAGHKQSETTQKCEDIDECSIIPGICETGECSNTVGSYFCVCPRGYVTSTDGSRCIDQRTGMCFSGLVNGRCAQELPGRMTKMQCCCEPGRCWGIGTIPEACPVRGSEEYRRLCMDGLPMGGIPGSAGSRPGGTGGNGFAPSGNGNGYGPGGTGFIPIPGGNGFSPGVGGAGVGAGGQGPIITGLTILNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGYKQDANGDCIDVDECTSNPCTNGDCVNTPGSYYCKCHAGFQRTPTKQACIDIDECIQNGVLCKNGRCVNTDGSFQCICNAGFELTTDGKNCVDHDECTTTNMCLNGMCINEDGSFKCICKPGFVLAPNGRYCTDVDECQTPGICMNGHCINSEGSFRCDCPPGLAVGMDGRVCVDTHMRSTCYGGIKKGVCVRPFPGAVTKSECCCANPDYGFGEPCQPCPAKNSAEFHGLCSSGVGITVDGRDINECALDPDICANGICENLRGSYRCNCNSGYEPDASGRNCIDIDECLVNRLLCDNGLCRNTPGSYSCTCPPGYVFRTETETCEDINECESNPCVNGACRNNLGSFNCECSPGSKLSSTGLICIDSLKGTCWLNIQDSRCEVNINGATLKSECCATLGAAWGSPCERCELDTACPRGLARIKGVTCEDVNECEVFPGVCPNGRCVNSKGSFHCECPEGLTLDGTGRVCLDIRMEQCYLKWDEDECIHPVPGKFRMDACCCAVGAAWGTECEECPKPGTKEYETLCPRGAGFANRGDVLTGRPFYKDINECKAFPGMCTYGKCRNTIGSFKCRCNSGFALDMEERNCTDIDECRISPDLCGSGICVNTPGSFECECFEGYESGFMMMKNCMDIDECERNPLLCRGGTCVNTEGSFQCDCPLGHELSPSREDCVDINECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCTDIDECMIMNGGCDTQCTNSEGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASMDMKTCIDVNECDLNSNICMFGECENTKGSFICHCQLGYSVKKGTTGCTDVDECEIGAHNCDMHASCLNIPGSFKCSCREGWIGNGIKCIDLDECSNGTHQCSINAQCVNTPGSYRCACSEGFTGDGFTCSDVDECAENINLCENGQCLNVPGAYRCECEMGFTPASDSRSCQDIDECSFQNICVFGTCNNLPGMFHCICDDGYELDRTGGNCTDIDECADPINCVNGLCVNTPGRYECNCPPDFQLNPTGVGCVDNRVGNCYLKFGPRGDGSLSCNTEIGVGVSRSSCCCSLGKAWGNPCETCPPVNSTEYYTLCPGGEGFRPNPITIILEDIDECQELPGLCQGGNCINTFGSFQCECPQGYYLSEDTRICEDIDECFAHPGVCGPGTCYNTLGNYTCICPPEYMQVNGGHNCMDMRKSFCYRSYNGTTCENELPFNVTKRMCCCTYNVGKAWNKPCEPCPTPGTADFKTICGNIPGFTFDIHTGKAVDIDECKEIPGICANGVCINQIGSFRCECPTGFSYNDLLLVCEDIDECSNGDNLCQRNADCINSPGSYRCECAAGFKLSPNGACVDRNECLEIPNVCSHGLCVDLQGSYQCICHNGFKASQDQTMCMDVDECERHPCGNGTCKNTVGSYNCLCYPGFELTHNNDCLDIDECSSFFGQVCRNGRCFNEIGSFKCLCNEGYELTPDGKNCIDTNECVALPGSCSPGTCQNLEGSFRCICPPGYEVKSENCIDINECDEDPNICLFGSCTNTPGGFQCLCPPGFVLSDNGRRCFDTRQSFCFTNFENGKCSVPKAFNTTKAKCCCSKMPGEGWGDPCELCPKDDEVAFQDLCPYGHGTVPSLHDTREDVNECLESPGICSNGQCINTDGSFRCECPMGYNLDYTGVRCVDTDECSIGNPCGNGTCTNVIGSFECNCNEGFEPGPMMNCEDINECAQNPLLCAFRCMNTFGSYECTCPIGYALREDQKMCKDLDECAEGLHDCESRGMMCKNLIGTFMCICPPGMARRPDGEGCVDENECRTKPGICENGRCVNIIGSYRCECNEGFQSSSSGTECLDNRQGLCFAEVLQTICQMASSSRNLVTKSECCCDGGRGWGHQCELCPLPGTAQYKKICPHGPGYTTDGRDIDECKVMPNLCTNGQCINTMGSFRCFCKVGYTTDISGTSCIDLDECSQSPKPCNYICKNTEGSYQCSCPRGYVLQEDGKTCKDLDECQTKQHNCQFLCVNTLGGFTCKCPPGFTQHHTACIDNNECGSQPSLCGAKGICQNTPGSFSCECQRGFSLDATGLNCEDVDECDGNHRCQHGCQNILGGYRCGCPQGYIQHYQWNQCVDENECSNPNACGSASCYNTLGSYKCACPSGFSFDQFSSACHDVNECSSSKNPCNYGCSNTEGGYLCGCPPGYYRVGQGHCVSGMGFNKGQYLSLDTEVDEENALSPEACYECKINGYSKKDSRQKRSIHEPDPTAVEQISLESVDMDSPVNMKFNLSHLGSKEHILELRPAIQPLNNHIRYVISQGNDDSVFRIHQRNGLSYLHTAKKKLMPGTYTLEITSIPLYKKKELKKLEESNEDDYLLGELGEALRMRLQIQLY", "length": 2912, "header": "sp|P35556-1|FBN2_HUMAN Isoform 1 of Fibrillin-2 OS=Homo sapiens OX=9606 GN=FBN2 PE=1 SV=3 CANONICAL=P35556-1" }, "isoforms": [ { "isoform_ac": "A0A9H4AZX0-1", "url": "https://www.uniprot.org/uniprotkb/P35556/entry#A0A9H4AZX0-1", "sequence": { "sequence": "MGRRRRLCLQLYFLWLGCVVLWAQGTAGQPQPPPPKPPRPQPPPQQVRSATAGSEGGFLAPEYREEGAAVASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCGDGFCSRPNMCTCSSGQISSTCGSKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVCENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCCATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGICQGGNCINTVGSFECRCPAGHKQSETTQKCEDIDECSIIPGICETGECSNTVGSYFCVCPRGYVTSTDGSRCIDLFRIPPTCCRELDSLSPIC", "length": 379, "header": "tr|A0A9H4AZX0-1|A0A9H4AZX0_HUMAN Computationally mapped isoform of Fibrillin 2 OS=Homo sapiens OX=9606 GN=FBN2 PE=1 SV=1 CANONICAL=P35556-1" }, "locus": { "chromosome": "5", "start_pos": 128537603, "end_pos": 128399822, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508053.6", "url": "https://www.ensembl.org/id/ENST00000508053.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000424571.2", "url": "https://www.ensembl.org/id/ENSP00000424571.2" } ] } }, { "isoform_ac": "D6RJI3-1", "url": "https://www.uniprot.org/uniprotkb/P35556/entry#D6RJI3-1", "sequence": { "sequence": "MGRRRRLCLQLYFLWLGCVVLWAQGTAGQPQPPPPKPPRPQPPPQQVRSATAGSEGGFLAPEYREEGAAVASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVLQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVCENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCCATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGICQGGNCINTVGSFECRCPAGHKQSETTQKCEDIDECSIIPGICETGECSNTVGSYFCVCPRGYVTSTDGSRCIDQRTGMCFSGLVNGRCAQELPGRMTKMQCCCEPGRCWGIGTIPEACPVRGSEEYRRLCMDGLPMGGIPGSAGSRPGGTGGNGFAPSGNGNGYGPGGTGFIPIPGGNGFSPGVGGAGVGAGGQGPIITGLTILNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGYKQDANGDCIDVDECTSNPCTNGDCVNTPGSYYCKCHAGFQRTPTKQACIDIDECIQNGVLCKNGRCVNTDGSFQCICNAGFELTTDGKNCVDHDECTTTNMCLNGMCINEDGSFKCICKPGFVLAPNGRYCTDVDECQTPGICMNGHCINSEGSFRCDCPPGLAVGMDGRVCVDTHMRSTCYGGIKKGVCVRPFPGAVTKSECCCANPDYGFGEPCQPCPAKNSAEFHGLCSSGVGITVDGRDINECALDPDICANGICENLRGSYRCNCNSGYEPDASGRNCIDIDECLVNRLLCDNGLCRNTPGSYSCTCPPGYVFRTETETCEDINECESNPCVNGACRNNLGSFNCECSPGSKLSSTGLICIDSLKGTCWLNIQDSRCEVNINGATLKSECCATLGAAWGSPCERCELDTACPRGLARIKGVTCEDVNECEVFPGVCPNGRCVNSKGSFHCECPEGLTLDGTGRVCLDIRMEQCYLKWDEDECIHPVPGKFRMDACCCAVGAAWGTECEECPKPGTKEYETLCPRGAGFANRGDVLTGRPFYKDINECKAFPGMCTYGKCRNTIGSFKCRCNSGFALDMEERNCTDIDECRISPDLCGSGICVNTPGSFECECFEGYESGFMMMKNCMDIDECERNPLLCRGGTCVNTEGSFQCDCPLGHELSPSREDCVDINECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCTDIDECMIMNGGCDTQCTNSEGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASMDMKTCIDVNECDLNSNICMFGECENTKGSFICHCQLGYSVKKGTTGCTDVDECEIGAHNCDMHASCLNIPGSFKCSCREGWIGNGIKCIDLDECSNGTHQCSINAQCVNTPGSYRCACSEGFTGDGFTCSDVDECAENINLCENGQCLNVPGAYRCECEMGFTPASDSRSCQGGSPGFQLIFKLDQPQ", "length": 1473, "header": "tr|D6RJI3-1|D6RJI3_HUMAN Computationally mapped isoform of Fibrillin 2 OS=Homo sapiens OX=9606 GN=FBN2 PE=1 SV=1 CANONICAL=P35556-1" }, "locus": { "chromosome": "5", "start_pos": 128537603, "end_pos": 128328649, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508989.5", "url": "https://www.ensembl.org/id/ENST00000508989.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425596.1", "url": "https://www.ensembl.org/id/ENSP00000425596.1" } ] } }, { "isoform_ac": "E9PHW4-1", "url": "https://www.uniprot.org/uniprotkb/P35556/entry#E9PHW4-1", "sequence": { "sequence": "MGRRRRLCLQLYFLWLGCVVLWAQGTAGQPQPPPPKPPRPQPPPQQVRSATAGSEGGFLAPEYREEGAAVASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCGDGFCSRPNMCTCSSGQISSTCGSKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVCENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCCATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGICQGGNCINTVGSFECRCPAGHKQSETTQKCEVHVDKAQAGARCPCVILPSRLYLR", "length": 341, "header": "tr|E9PHW4-1|E9PHW4_HUMAN Computationally mapped isoform of Fibrillin 2 OS=Homo sapiens OX=9606 GN=FBN2 PE=1 SV=1 CANONICAL=P35556-1" }, "locus": { "chromosome": "5", "start_pos": 128537603, "end_pos": 128442302, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000502468.5", "url": "https://www.ensembl.org/id/ENST00000502468.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424753.1", "url": "https://www.ensembl.org/id/ENSP00000424753.1" } ] } }, { "isoform_ac": "P35556-1", "url": "https://www.uniprot.org/uniprotkb/P35556/entry#P35556-1", "sequence": { "sequence": "MGRRRRLCLQLYFLWLGCVVLWAQGTAGQPQPPPPKPPRPQPPPQQVRSATAGSEGGFLAPEYREEGAAVASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCGDGFCSRPNMCTCSSGQISSTCGSKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVCENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCCATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGICQGGNCINTVGSFECRCPAGHKQSETTQKCEDIDECSIIPGICETGECSNTVGSYFCVCPRGYVTSTDGSRCIDQRTGMCFSGLVNGRCAQELPGRMTKMQCCCEPGRCWGIGTIPEACPVRGSEEYRRLCMDGLPMGGIPGSAGSRPGGTGGNGFAPSGNGNGYGPGGTGFIPIPGGNGFSPGVGGAGVGAGGQGPIITGLTILNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGYKQDANGDCIDVDECTSNPCTNGDCVNTPGSYYCKCHAGFQRTPTKQACIDIDECIQNGVLCKNGRCVNTDGSFQCICNAGFELTTDGKNCVDHDECTTTNMCLNGMCINEDGSFKCICKPGFVLAPNGRYCTDVDECQTPGICMNGHCINSEGSFRCDCPPGLAVGMDGRVCVDTHMRSTCYGGIKKGVCVRPFPGAVTKSECCCANPDYGFGEPCQPCPAKNSAEFHGLCSSGVGITVDGRDINECALDPDICANGICENLRGSYRCNCNSGYEPDASGRNCIDIDECLVNRLLCDNGLCRNTPGSYSCTCPPGYVFRTETETCEDINECESNPCVNGACRNNLGSFNCECSPGSKLSSTGLICIDSLKGTCWLNIQDSRCEVNINGATLKSECCATLGAAWGSPCERCELDTACPRGLARIKGVTCEDVNECEVFPGVCPNGRCVNSKGSFHCECPEGLTLDGTGRVCLDIRMEQCYLKWDEDECIHPVPGKFRMDACCCAVGAAWGTECEECPKPGTKEYETLCPRGAGFANRGDVLTGRPFYKDINECKAFPGMCTYGKCRNTIGSFKCRCNSGFALDMEERNCTDIDECRISPDLCGSGICVNTPGSFECECFEGYESGFMMMKNCMDIDECERNPLLCRGGTCVNTEGSFQCDCPLGHELSPSREDCVDINECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCTDIDECMIMNGGCDTQCTNSEGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASMDMKTCIDVNECDLNSNICMFGECENTKGSFICHCQLGYSVKKGTTGCTDVDECEIGAHNCDMHASCLNIPGSFKCSCREGWIGNGIKCIDLDECSNGTHQCSINAQCVNTPGSYRCACSEGFTGDGFTCSDVDECAENINLCENGQCLNVPGAYRCECEMGFTPASDSRSCQDIDECSFQNICVFGTCNNLPGMFHCICDDGYELDRTGGNCTDIDECADPINCVNGLCVNTPGRYECNCPPDFQLNPTGVGCVDNRVGNCYLKFGPRGDGSLSCNTEIGVGVSRSSCCCSLGKAWGNPCETCPPVNSTEYYTLCPGGEGFRPNPITIILEDIDECQELPGLCQGGNCINTFGSFQCECPQGYYLSEDTRICEDIDECFAHPGVCGPGTCYNTLGNYTCICPPEYMQVNGGHNCMDMRKSFCYRSYNGTTCENELPFNVTKRMCCCTYNVGKAWNKPCEPCPTPGTADFKTICGNIPGFTFDIHTGKAVDIDECKEIPGICANGVCINQIGSFRCECPTGFSYNDLLLVCEDIDECSNGDNLCQRNADCINSPGSYRCECAAGFKLSPNGACVDRNECLEIPNVCSHGLCVDLQGSYQCICHNGFKASQDQTMCMDVDECERHPCGNGTCKNTVGSYNCLCYPGFELTHNNDCLDIDECSSFFGQVCRNGRCFNEIGSFKCLCNEGYELTPDGKNCIDTNECVALPGSCSPGTCQNLEGSFRCICPPGYEVKSENCIDINECDEDPNICLFGSCTNTPGGFQCLCPPGFVLSDNGRRCFDTRQSFCFTNFENGKCSVPKAFNTTKAKCCCSKMPGEGWGDPCELCPKDDEVAFQDLCPYGHGTVPSLHDTREDVNECLESPGICSNGQCINTDGSFRCECPMGYNLDYTGVRCVDTDECSIGNPCGNGTCTNVIGSFECNCNEGFEPGPMMNCEDINECAQNPLLCAFRCMNTFGSYECTCPIGYALREDQKMCKDLDECAEGLHDCESRGMMCKNLIGTFMCICPPGMARRPDGEGCVDENECRTKPGICENGRCVNIIGSYRCECNEGFQSSSSGTECLDNRQGLCFAEVLQTICQMASSSRNLVTKSECCCDGGRGWGHQCELCPLPGTAQYKKICPHGPGYTTDGRDIDECKVMPNLCTNGQCINTMGSFRCFCKVGYTTDISGTSCIDLDECSQSPKPCNYICKNTEGSYQCSCPRGYVLQEDGKTCKDLDECQTKQHNCQFLCVNTLGGFTCKCPPGFTQHHTACIDNNECGSQPSLCGAKGICQNTPGSFSCECQRGFSLDATGLNCEDVDECDGNHRCQHGCQNILGGYRCGCPQGYIQHYQWNQCVDENECSNPNACGSASCYNTLGSYKCACPSGFSFDQFSSACHDVNECSSSKNPCNYGCSNTEGGYLCGCPPGYYRVGQGHCVSGMGFNKGQYLSLDTEVDEENALSPEACYECKINGYSKKDSRQKRSIHEPDPTAVEQISLESVDMDSPVNMKFNLSHLGSKEHILELRPAIQPLNNHIRYVISQGNDDSVFRIHQRNGLSYLHTAKKKLMPGTYTLEITSIPLYKKKELKKLEESNEDDYLLGELGEALRMRLQIQLY", "length": 2912, "header": "sp|P35556-1|FBN2_HUMAN Isoform 1 of Fibrillin-2 OS=Homo sapiens OX=9606 GN=FBN2 PE=1 SV=3 CANONICAL=P35556-1" }, "locus": { "chromosome": "5", "start_pos": 128537603, "end_pos": 128259458, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262464.9", "url": "https://www.ensembl.org/id/ENST00000262464.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000262464.4", "url": "https://www.ensembl.org/id/ENSP00000262464.4" } ] } }, { "isoform_ac": "P35556-2", "url": "https://www.uniprot.org/uniprotkb/P35556/entry#P35556-2", "sequence": { "sequence": "MGRRRRLCLQLYFLWLGCVVLWAQGTAGQPQPPPPKPPRPQPPPQQVRSATAGSEGGFLAPEYREEGAAVASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVCENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCCATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGICQGGNCINTVGSFECRCPAGHKQSETTQKCEDIDECSIIPGICETGECSNTVGSYFCVCPRGYVTSTDGSRCIDQRTGMCFSGLVNGRCAQELPGRMTKMQCCCEPGRCWGIGTIPEACPVRGSEEYRRLCMDGLPMGGIPGSAGSRPGGTGGNGFAPSGNGNGYGPGGTGFIPIPGGNGFSPGVGGAGVGAGGQGPIITGLTILNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGYKQDANGDCIDVDECTSNPCTNGDCVNTPGSYYCKCHAGFQRTPTKQACIDIDECIQNGVLCKNGRCVNTDGSFQCICNAGFELTTDGKNCVDHDECTTTNMCLNGMCINEDGSFKCICKPGFVLAPNGRYCTDVDECQTPGICMNGHCINSEGSFRCDCPPGLAVGMDGRVCVDTHMRSTCYGGIKKGVCVRPFPGAVTKSECCCANPDYGFGEPCQPCPAKNSAEFHGLCSSGVGITVDGRDINECALDPDICANGICENLRGSYRCNCNSGYEPDASGRNCIDIDECLVNRLLCDNGLCRNTPGSYSCTCPPGYVFRTETETCEDINECESNPCVNGACRNNLGSFNCECSPGSKLSSTGLICIDSLKGTCWLNIQDSRCEVNINGATLKSECCATLGAAWGSPCERCELDTACPRGLARIKGVTCEDVNECEVFPGVCPNGRCVNSKGSFHCECPEGLTLDGTGRVCLDIRMEQCYLKWDEDECIHPVPGKFRMDACCCAVGAAWGTECEECPKPGTKEYETLCPRGAGFANRGDVLTGRPFYKDINECKAFPGMCTYGKCRNTIGSFKCRCNSGFALDMEERNCTDIDECRISPDLCGSGICVNTPGSFECECFEGYESGFMMMKNCMDIDECERNPLLCRGGTCVNTEGSFQCDCPLGHELSPSREDCVDINECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCTDIDECMIMNGGCDTQCTNSEGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASMDMKTCIDVNECDLNSNICMFGECENTKGSFICHCQLGYSVKKGTTGCTDVDECEIGAHNCDMHASCLNIPGSFKCSCREGWIGNGIKCIDLDECSNGTHQCSINAQCVNTPGSYRCACSEGFTGDGFTCSDVDECAENINLCENGQCLNVPGAYRCECEMGFTPASDSRSCQGGSPGFQLIFKLDQPQ", "length": 1473, "header": "sp|P35556-2|FBN2_HUMAN Isoform 2 of Fibrillin-2 OS=Homo sapiens OX=9606 GN=FBN2 PE=1 SV=3 CANONICAL=P35556-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "GDVLTGRPFYK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_pos": 1062, "start_aa": "Gly", "end_pos": 1072, "end_aa": "Lys", "evidence": [ { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ], "filter_code": "00000000000000000000.0000000.00000000001000.1000000.0100000000.010100100011111110.10000.00001" }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_pos": 1066, "start_aa": "Thr", "end_pos": 1066, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1066", "evidence": [ { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "GLY_000040", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000040" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ], "filter_code": "00000000000000001000.0000000.00000000001000.1000000.0100000000.010100100011111110.10000.01001" }, { "glytoucan_ac": "G71142DF", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-glucosylation", "icn3d_view": {}, "start_pos": 1095, "start_aa": "Ser", "end_pos": 1095, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1095", "evidence": [ { "id": "34411563", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34411563" }, { "id": "GLY_000716", "database": "Data Submission", "url": "http://data.glygen.org/GLY_000716" } ], "filter_code": "00000000000000010000.0000000.00000000100000.1000000.1000000000.010000000011110000.10000.01001" }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc) serine", "icn3d_view": {}, "start_pos": 1095, "start_aa": "Ser", "end_pos": 1095, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1095", "evidence": [ { "id": "P35556", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35556#ptm_processing" }, { "id": "34411563", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34411563" } ], "filter_code": "00000000000000010000.00000000001000.00.01001" }, { "glytoucan_ac": "G00406II", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1112, "start_aa": "Asn", "end_pos": 1112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1112", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1236", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1236" } ], "filter_code": "00100000000000000000.0000000.00010000000000.0100000.1110000000.010011100001111101.00010.01001" }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1112, "start_aa": "Asn", "end_pos": 1112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1112", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1236", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1236" } ], "filter_code": "00100000000000000000.0000000.00010000000000.0100000.1100000000.110111100011111110.00010.01001" }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1112, "start_aa": "Asn", "end_pos": 1112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1112", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1236", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1236" } ], "filter_code": "00100000000000000000.0000000.00010000000000.0100000.1100000000.110111100011111111.00010.01001" }, { "glytoucan_ac": "G25637MV", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1112, "start_aa": "Asn", "end_pos": 1112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1112", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1236", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1236" } ], "filter_code": "00100000000000000000.0000000.00010000000000.0100000.1110000000.010101100011111100.00010.01001" }, { "glytoucan_ac": "G33609NS", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1112, "start_aa": "Asn", "end_pos": 1112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1112", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1236", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1236" } ], "filter_code": "00100000000000000000.0000000.00010000000000.0100000.1100000000.010111100011111101.00010.01001" }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1112, "start_aa": "Asn", "end_pos": 1112, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1112", "evidence": [ { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "1236", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1236" } ], "filter_code": "00100000000000000000.0000000.00010000000000.0100000.1100000000.111111100011111110.00010.01001" }, { "glytoucan_ac": "G46503DX", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NCTDIDECR", "relation": "attached", "comment": "", "icn3d_view": {}, 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Gal, Melamed Kadosh Dganit, Mooshayef Navit, Chatterji Sumit, Dominissini Dan, Manor Sigal, Zisser Bracha, Broday Limor, Talalai Efrosiniia, Shemer Anat, Zadok Oranit, Ofek Efrat, Onn Amir, Admon Arie, Peled Michael", "evidence": [ { "database": "IEDB", "id": "2260236", "url": "https://www.iedb.org/epitope/2260236" } ], "reference": [ { "type": "PubMed", "id": "35580925", "url": "https://glygen.org/publication/PubMed/35580925" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P35556", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35556" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" 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Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley", "evidence": [ { "database": "O-GlcNAc Database", "id": "P35556", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35556" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "title": "Fibulin-2 is an extracellular matrix inhibitor of oligodendrocytes relevant to multiple sclerosis.", "journal": "The Journal of clinical investigation", "date": "2024-05-14", "authors": "Ghorbani Samira, Li Cenxiao, Lozinski Brian M, Moezzi Dorsa, D'Mello Charlotte, Dong Yifei, Visser Frank, Li Hongmin, Silva Claudia, Khakpour Mohammadparsa, Murray Colin J, Tremblay Marie-\u00c8ve, Xue Mengzhou, Yong V Wee", "evidence": [ { "database": "RefSeq", "id": "NP_001990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001990" } ], "reference": [ { "type": "PubMed", "id": "38743490", "url": "https://glygen.org/publication/PubMed/38743490" } ] }, { "title": "Lysyl oxidase: preparation and role in elastin biosynthesis.", "journal": "Methods in enzymology", "date": "1982", "authors": "Kagan HM, Sullivan KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1566948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1566948" } ], "reference": [ { "type": "PubMed", "id": "6123066", "url": "https://glygen.org/publication/PubMed/6123066" } ] }, { "title": "Characterization of the binding domains in the fragments cleaved by cathepsin G from human plasma fibronectin.", "journal": "European journal of biochemistry", "date": "1982", "authors": "Vartio T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "7075587", "url": "https://glygen.org/publication/PubMed/7075587" } ] }, { "title": "Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.", "journal": "Nature genetics", "date": "1995", "authors": "Putnam EA, Zhang H, Ramirez F, Milewicz DM", "evidence": [ { "database": "UniProtKB", "id": "P35556", "url": "https://www.uniprot.org/uniprotkb/P35556" } ], "reference": [ { "type": "PubMed", "id": "7493032", "url": "https://glygen.org/publication/PubMed/7493032" } ] }, { "title": "Binding of mouse and human fibulin-2 to extracellular matrix ligands.", "journal": "Journal of molecular biology", "date": "1995", "authors": "Sasaki T, Gohring W, Pan TC, Chu ML, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "7500359", "url": "https://glygen.org/publication/PubMed/7500359" } ] }, { "title": "The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "1995", "authors": "Roark EF, Keene DR, Haudenschild CC, Godyna S, Little CD, Argraves WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "7534784", "url": "https://glygen.org/publication/PubMed/7534784" } ] }, { "title": "Release of biological activities from quiescent fibronectin by a conformational change and limited proteolysis by matrix metalloproteinases.", "journal": "Biochemistry", "date": "1995", "authors": "Fukai F, Ohtaki M, Fujii N, Yajima H, Ishii T, Nishizawa Y, Miyazaki K, Katayama T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "7547873", "url": "https://glygen.org/publication/PubMed/7547873" } ] }, { "title": "Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices.", "journal": "J. Cell Biol.", "date": "1994", "authors": "Zhang H, Apfelroth S D, Hu W, Davis E C, Sanguineti C, Bonadio J, Mecham R P, Ramirez F", "evidence": [ { "database": "UniProtKB", "id": "P35556", "url": "https://www.uniprot.org/uniprotkb/P35556" } ], "reference": [ { "type": "PubMed", "id": "8120105", "url": "https://glygen.org/publication/PubMed/8120105" } ] }, { "title": "Cloning and characterization of a unique elastolytic metalloproteinase produced by human alveolar macrophages.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Shapiro SD, Kobayashi DK, Ley TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "8226919", "url": "https://glygen.org/publication/PubMed/8226919" } ] }, { "title": "Cell adhesion and integrin binding to recombinant human fibrillin-1.", "journal": "FEBS letters", "date": "1996", "authors": "Pfaff M, Reinhardt 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metalloproteinase interaction.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Knauper V, Cowell S, Smith B, Lopez-Otin C, O'Shea M, Morris H, Zardi L, Murphy G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "9065415", "url": "https://glygen.org/publication/PubMed/9065415" } ] }, { "title": "Hydrolysis of a broad spectrum of extracellular matrix proteins by human macrophage elastase.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Gronski TJ Jr, Martin RL, Kobayashi DK, Walsh BC, Holman MC, Huber M, Van Wart HE, Shapiro SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "9115292", "url": "https://glygen.org/publication/PubMed/9115292" } ] }, { "title": "Degradation of decorin by matrix metalloproteinases: identification of the cleavage sites, kinetic analyses and transforming growth factor-beta1 release.", "journal": "The Biochemical journal", "date": "1997", "authors": "Imai K, Hiramatsu A, Fukushima D, Pierschbacher MD, Okada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { "type": "PubMed", "id": "9148753", "url": "https://glygen.org/publication/PubMed/9148753" } ] }, { "title": "Membrane-type matrix metalloproteinases 1 and 2 exhibit broad-spectrum proteolytic capacities comparable to many matrix metalloproteinases.", "journal": "European journal of biochemistry", "date": "1997", "authors": "d'Ortho MP, Will H, Atkinson S, Butler G, Messent A, Gavrilovic J, Smith B, Timpl R, Zardi L, Murphy G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474228", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474228" } ], "reference": [ { 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"MGVWKLANVVLWWAAVHSVQGQGDGDIQASRFTGKPEGEVQQRVRRRGQESLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCGDGFCSRPNMCTCSSGHLAPSCGAAAVQSCSVRCMNGGMCNEDACSCQKGYTGTHCGQPVCESGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLSGIVCTKTLCCATIGRAWGHPCEMCPAQPHPCRRGFIPNIRTGACQDVDECQAVPGLCAGGNCINTVGSYECKCPAGHRQSETNQKCEDIDECATISGVCDGGECTNTAGSYVCTCPRGYITSTDGSRCVDHRIGTCFSSLANGRCASELSGQYTKMQCCCDTGRCWALGHIPEMCPVRGSDEYRRLCIQRLPFGTGNGGIIHDGNGGLNIGGYGKGPSQNGNGGGGYIYGSEHTFTNGNGNGGQKIQISQLNETTIDVCKHFTNLCLNGRCIPTPTSYRCECNMGYRQDVRGECIDVDECVSNPCVNGDCVNTQGSYHCKCHEGYQGTPTKQACIDIDECIVNGVMCRNGRCVNTDGSFQCICNAGFEISPDGKNCIDHDECATTNMCLNGMCINEDGSFKCICKPGFALAPNGRYCTDIDECHTSGICMNGRCVNTEGSFRCECPPGLAIDVDGRVCVDTHMRTTCYGAIKMGVCSRPFPGAVTKSECCCANPEHGFGEPCQPCPAFNSAEFQAVCSSGPGITTDGRDINECALDPDICQNGICENLRGSYRCICNIGYESDASGKNCVDINECLVNRLLCDNGMCRNTPGSYTCSCPKGFSFKADSETCEDINECDSNPCINGICRNIAGSFNCECSHGSKLDSTNTVCVDSMKGTCWLNIQDGRCEVNINGATLKSECCSTLGAAWGSPCERCEIDPACSKGFGRMKGLVCEDINECEVFPGVCTNGRCVNTQGSFRCECPEGLTLDGAGRTCVDVRSEQCYMKWDEDECVEPLPGRYRVDMCCCTVGAAWGVDCEACPKPNTNEFKTICPRGPGIANRGDILTGRPFYKDVNECKVFRGLCTHGTCRNTIGSFKCRCDSGFALTMEERNCTDIDECTISPDLCGHGVCVNTPGSFECECFDGYESGFMMMKNCMDIDECERDPLLCRGGTCLNTEGSYECDCPPGHQLSTEASACEDVNECQLSDNLCKHGQCVNMVGTYQCSCETGYQVTPDRQGCVDIDECTIMNGGCDTHCTNSEGSYECSCSEGYALMPDLRTCADIDECEDTPDICDGGQCTNIPGEYRCLCYDGFMASMDMRTCIDVNECDLNPNICLHGDCENTKGSFICHCQLGYFVKKGSTGCTDVDECEIGAHNCDLHAACVNAPGSFKCRCRDGWEGDGIKCIDVDECVTEEHNCNPNAECLNTPGSYRCSCKEGFNGDGFSCSDMDECADNVNLCENGQCLNAPGGYRCECEMGFTPTEDSKACQDIDECNFQNICVFGSCQNLPGMFRCVCDYGYELDRSGGNCTDINECFDPVNCINGVCVNLPGSYLCNCPPDFELNPSGVGCVDTRVGNCFLDTLDRGDGGISCSAEIGVGVTRASCCCSLGGAWGNPCELCPSVNSTEYKTLCPGGEGFRPNPITVILEDIDECQELPGLCQGGNCVNTFGSFQCECPAGYYLNEETRICEDIDECTAHIGICGPGTCYNTLGNYTCVCPPEYMQVNGGNNCMDMRKSVCYRNFNDTCENELSFNMTKKMCCCAYNVGKAWNRPCEACPTPATSEYQLLCGNQAPGFIIDIHTGKPIDIDECREIPGICANGVCINQIGSFRCECPMGFSYNNILLICEDIDECNSGDNLCQRNANCINIPGSYRCECSAGFKLSPSGACIDRNECQEIPNVCSHGECIDTQGSFRCLCHNGFKTTPDQTMCMDIDECDRQPCGNGTCKNTVGSYNCLCFPGFELTHNNDCMDIDECSVHASQVCRNGQCINNMGSFKCLCLDGYNLTPDGKNCVDINECVTLPGACQPGTCQNLDGSFRCICPPGYEVQNDKCVDINECNVEPNICQFGTCKNTPGSFQCICQPGFVLSDNGRRCFDTRESFCFTRFEAGKCSVPKPRNTTKAKCCCSLLPGEGWGDPCELCPRDTEEAAFHTLCPYGHEAVPKPEGREDMNECVENPEICGNGLCINTDGSFRCECPFGYNLDYTGVNCVDTDECSIGNPCGNGTCSNVPGGFECSCQEGFEPGPMMTCEDINECAVNPLLCAFRCVNTFGSYECMCPTGYVLRDDNRMCRDQDECAEGLDDCASRGMACKNQIGTFMCICPPGMTRRPDGEGCMDLNECRSKPGICKNGRCVNTVGSYRCECNEGFEASATGTECIDNRKGFCFTEVLQTMCQQSSTNRNTVTKSECCCNGGRGWGSLCELCPLPGTIQYKKMCPLGPGYTTDGRDINECEVMPNLCKNGQCINSVGSFRCHCNVGYTNDFTGTSCIDMDECSQSPKPCNFLCKNTEGSYLCSCPRGYILQPDGKTCKDLDECSTKQHNCQFLCVNTIGGFTCKCPSGFTQHQTACIDNNECSNQPNICGSRASCLNSPGSFNCECQKGFSLDATGLNCDDVDECGGNHRCQHGCQNMMGGYRCGCPQGYVQHYQWNQCVDENECTGNQVCGSASCYNTLGSYKCVCPSGFDFEASAGGCQDVNECSMGNNPCSYGCSNTDGGYLCGCPGGFYRAGQGHCINGVGFQGQFGSEGEDDEESLSPEACYECKINGDLGKKGRHRRNADDNELKETVSMASMDIQTSIPMNLSLAQLLNKEPLLELLPALEPLEHHVRYVITHGNQGEHFRILERRDGKSVLRLGRRPPAPGLYRLEIASLRLFGPRKLQQMEDQHDSDYLLGEIGDALRIKLHIHLH", "length": 2868 }, "evidence": [ { "id": "RGD:620910", "url": "https://alliancegenome.org/gene/RGD:620910#orthology", "database": "AGR" }, { "id": "MGI:95490", "url": "https://alliancegenome.org/gene/MGI:95490#orthology", "database": "AGR" }, { "id": "HGNC:3604", "url": "https://alliancegenome.org/gene/HGNC:3604#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-090112-3", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-090112-3#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "F1M5Q4-1", "protein_name": "Fibrillin-2", "gene_name": "Fbn2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGRRRRLCLQPYFVWLGCVALWAQGTDGQPQPPPPKTLRPQPPPQQVRPAGAGSEGGFAGPEYRDEGALAASRVRRRGQQEILRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCGDGFCSRPNMCTCSSGQISPTCGAKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVCENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCCATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGLCQGGNCINTVGSFECRCPAGHKQSETTQKCEDIDECSVVPGICETGDCSNTVGSYFCLCPRGFVTSTDGSRCIDQRTGTCFSGLVNGRCAQELPGRMAKAQCCCEPGRCWGIGTIPEACPVRGSEEYRRLCLDGLPMGGIPGSSVSRPGGSGGNSNGYGPGGTGFLPIPGGNGFSPGVGGAGVGAGGQGPIITGLTILNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGYKQDANGDCIDVDECTSNPCSHGDCVNTPGSYYCKCHAGFQRTPTKQACIDIDECIQNGVLCKNGRCVNTDGRFQCICNAGFELTTDGENCVDHDECTTTNMCLNGMCINEDGSFKCVCKPGFVLAPNGRYCTDVDECQTPGICMNGHCINNEGSFRCDCPPGLAVGVDGRVCVDTHMRSTCYGEIKKGVCVRPFPGAVTKSECCCANPDYGFGEPCQPCPAKNSAEFHGLCSGGVGITVDGRDINECALDPDICANGICENLRGSYRCNCNSGYEPDASGRNCIDIDECLVNRLLCDNGLCRNTPGSYSCTCPPGYVFRTETETCEDVNECESNPCVNGACRNNLGSFHCECSPGSKLSSTGLICIDSLKGTCWLNIQDNRCEVNINGATLKSECCATLGTAWGSPCERCELDAACPRGFARIKGVTCEDVNECEVFPGVCPNGRCVNNKGSFHCECPEGLTLDGTGRVCLDVRMEHCFLKWDEDECVHPVPGKFRMDACCCAVGAAWGTECEECPKPGTKEYETLCPRGPGFANRGDILTGRPFYKDINECKAFPGMCTYGKCRNTIGSFKCRCNSGFALDMEERNCTDIDECRISPDLCGSGICVNTPGSFDCECFEGYESGFMMMKNCMDIDECERNPLLCRGGTCVNTEGSFQCDCPLGHELSPSREDCIDINECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCSDIDECMIMNGGCDTQCTNSEGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASMDMRTCIDVNECDLNPNICMFGECENTKGSFICHCQLGYSVKKGATGCTDVDECEIGAHNCDMHASCLNVPGSFKCSCREGWVGNGIKCIDLDECSNGTHQCSINAQCVNTPGSYRCACSEGFTGDGFTCSDVDECAENINLCENGQCLNVPGAYRCECEMGFTPASDSRSCQDIDECSFQNICVFGTCNNLPGMFHCICDDGYELDRTGGNCTDIDECADPINCVNGLCVNTPGRYECNCPPDFQLNPTGVGCVDNRVGNCYLKFGPRGDGSLSCNTEVGVGVSRSSCCCSLGKAWGNPCETCPPVNSTEYYTLCPGGEGFRPNPITIILEDIDECQELPGLCQGGNCINTFGSFQCECPQGYYLSEETRICEDIDECFAHPGVCGPGTCYNTLGNYTCICPPEYMQVNGGHNCMDMRKSFCYRSYNGTTCENELPFNVTKRMCCCTYNVGKAWNKPCEPCPTPGTADFKTICGNIPGFTFDIHTGKAVDIDECKEIPGICANGVCINQIGSFRCECPTGFSYNDLLLVCEDIDECSNGDNLCQRNADCINSPGSYRCECAAGFKLSPNGACVDRNECLEIPNVCSHGLCVDLQGSYQCICNNGFKASQDQTMCMDVDECERHPCGNGTCKNTVGSYNCLCYPGFELTHNNDCLDIDECSSFFGQVCRNGRCFNEIGSFKCLCNEGYELTPDGKNCIDTNECVALPGSCSPGTCQNLEGSFRCICPPGYEVKSENCIDINECDEDPNICLFGSCTNTPGGFQCICPPGFVLSDNGRRCFDTRQSFCFTNFENGKCSVPKAFNTTKAKCCCSKMPGEGWGDPCELCPKDDEVAFQDLCPYGHGTVPSLHDTREDVNECLESPGICSNGQCINTDGSFRCECPMGYNLDYSGVRCVDTDECSIGNPCGNGTCANVIGSFECNCNEGFEPGPMMNCEDINECAQNPLLCAFRCMNTFGSYECTCPVGYALREDQKMCKDLDECAEGLHDCESRGMMCKNLIGTFMCICPPGMARRPDGEGCVDENECRTKPGICENGRCVNIIGSYRCECNEGFQSSSSGTECLDNRQGLCFAEVLQTMCQMASSSRNLVTKSECCCDGGRGWGHQCELCPLPGTAQYKKICPHGPGYATDGRDIDECKVMPSLCTNGQCVNTMGSFRCFCKVGYTTDISGTACVDLDECSQSPKPCNFICKNTEGSYQCSCPRGYVLQEDGKTCKDLDECQTKQHNCQFLCVNTLGGFTCKCPPGFTQHHTACIDNNECGSQPSLCGAKGICQNTPGSFSCECQRGFSLDASGLNCEDVDECDGNHRCQHGCQNILGGYRCGCPQGYVQHYQWNQCVDENECSNPGACGSASCYNTLGSYKCACPSGFSFDQFSSACHDVNECSSSKNPCSYGCSNTEGGYLCGCPPGYFRVGQGHCVSGMGFNKGQYLSVDSEAEDDENALSPEACYECKINGYAKKDGRRKRSAPEPEPASAEEQISLESVAMDSPVNMKFNLSGLGSKEHILELVPAIEPLNNHIRYVISQGNDDGVFRIHQRNGLSYLHTAKKKLTPGTYTLEITSVPLYGKKELRKLEERNEDSYLLGVLGEALRMRLQIQLY", "length": 2907 }, "evidence": [ { "id": "RGD:620910", "url": "https://alliancegenome.org/gene/RGD:620910#orthology", "database": "AGR" }, { "id": "MGI:95490", "url": "https://alliancegenome.org/gene/MGI:95490#orthology", "database": "AGR" }, { "id": "HGNC:3604", "url": "https://alliancegenome.org/gene/HGNC:3604#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-090112-3", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-090112-3#orthology", "database": "AGR" }, { "id": "P35556", "url": "https://omabrowser.org/oma/group/P35556/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "F1MTZ4-1", "protein_name": "Fibrillin-2", "gene_name": "FBN2", "tax_id": 9913, "organism": "Bos taurus", "sequence": { "sequence": "MGRRRRLCPQPYFVWLGCVALWAQCTAGQPQPPPPKAPRPQPPPQQVRPAAAGSEGAFAVPEYREEGVAAASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCGDGFCSRPNMCTCSSGQISPTCGSKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVCENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCCATTGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGICQGGNCINTVGSFECKCPAGHKQSETTQKCEDIDECSIIPGICETGECSNTVGSYFCVCPRGYVTSTDGSRCIDQRTGTCFSGLVNGRCAQELPGRMTRMQCCCEPGRCWGIGTIPEACPVRGSEEYRRLCLDGLPIGGIPGSAGSRPGSAGGNGFAPSGNGNGYGPGGAGFIPIPGGNGFSPGVGGAGVGAGGQGPIITGLTILNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGYKQDANGDCIDVDECTSNPCTNGDCVNTPGSYYCKCHAGFQRTPTKQACIDIDECIQNGVLCKNGRCVNTDGSFQCICNAGFELTTDGKNCVDHDECTTTNMCLNGMCINEDGSFKCICKPGFILAPNGRYCTDVDECQTPGICMNGHCINNEGSFRCDCPPGLAVGVDGRVCVDTHMRSTCYGGIKKGVCVRPFPGAVTKSECCCANPDYGFGEPCQPCPAKNSAEFHGLCSSGVGITVDGRDINECALDPDICANGICENLRGSYRCNCNSGYEPDASGRNCVDIDECLVNRLLCDNGLCRNTPGSYSCTCPPGYVFRTETETCEDINECESNPCVNGACRNNLGSFNCECSPGSKLSSTGLICIDSLKGTCWLNIQDNRCEVNINGATLKSECCATLGAAWGSPCERCELDTACPRGFARIKGVTCEDVNECEVFPGVCPNGRCVNSKGSFHCECPEGLTLDGTGRVCLDIRMEQCYLKWDEDECIHPVPGKFRMDACCCAVGAAWGTECEECPKLGTKEYETLCPRGPGFANRGDVLTGRPFYKDINECKAFPGMCTYGKCRNTIGSFKCRCNSGFALDMEERNCTDIDECRISPDLCGSGICVNTPGSFECECFEGYESGFMMMKNCMDIDECERNPLLCRGGTCVNTEGSFQCDCPLGHELSPSREDCVDINECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCTDIDECMIMNGGCDTQCTNAEGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASMDMKTCIDVNECDLNSNICMFGECENTKGSFICHCQLGYSVKKGTTGCTDVDECEIGAHNCDMHASCLNVPGSFKCSCREGWVGNGIKCIDLDECSNGTHQCSINAQCVNTPGSYRCACSEGFTGDGFTCSDVDECAENINLCENGQCLNVPGAYRCECEMGFTPASDSRSCQDIDECSFQNICVFGTCNNLPGMFHCICDDGYELDRTGGNCTDIDECADPINCVNGLCVNTPGRYECNCPPDFQLNPTGVGCVDNRVGNCYLKFGPRGDGSLSCNTEIGVGVSRSSCCCSLGKAWGNPCETCPPVNSTEYYTLCPGGEGFRPNPITIILEDIDECQELPGLCQGGNCINTFGSFQCECPQGYYLSEETRICEDIDECFAHPGVCGPGTCYNTLGNYTCICPPEYMQVNGGHNCMDMRKSFCYRSYNGTTCENELPFNVTKRMCCCTYNVGKAWNKPCEPCPAPGTADFKTICGNIPGFTFDIHTGKAVDIDECKEIPGICANGVCINQIGSFRCECPTGFSYNDLLLVCEDIDECSNGDNLCQRNADCINSPGSYRCECAAGFKLSPNGACVDRNECLEIPNVCSHGLCVDLQGSYQCICHNGFKASQDQTMCMDVDECERHPCGNGTCKNTVGSYNCLCYPGFALTHNNDCMDIDECSSFFGQVCRNGRCFNEVGSFKCLCNEGYELTPDGKNCIDTNECVALPGSCSPGTCQNLEGSFRCICPPGYEVKSENCIDINECDEDPNICLFGSCTNTPGGFQCICPPGFVLSDNGRRCFDTRQSFCFTNFENGKCSVPKAFNTTKAKCCCSKMPGEGWGDPCELCPKDDEVAFQDLCPYGHGTVPSLHDTREDVNECLESPGICSNGQCINTDGSFRCECPMGYNLDYTGVRCVDTDECSIGNPCGNGTCTNVIGSFECNCNEGFEPGPMMNCEDINECAQNPLLCAFRCMNTFGSYECTCPIGYALREDQKMCKDLDECAEGLHDCESRGMMCKNLIGTFMCICPPGMARRPDGEGCVDENECRTKPGICENGRCVNTIGSYRCECNEGFQSSSSGTECLDNRQGLCFAEVLQTMCQMASSSRNLVTKSECCCDGGRGWGHQCELCPLPGTAQYKKICPHGPGYTTDGRDIDECKVMPNLCTSGQCINTMGSFRCFCKVGYTTDISGTSCVDLDECSQSPKPCNFICKNTEGSYQCSCPRGYVLQEDGKTCKDLDECQTKQHNCQFLCVNTLGGFTCKCPPGFTQHHTACIDNNECGSQPSLCGAKGICQNTPGSFSCECQRGFSLDATGLNCEDVDECDGNHRCQHGCQNILGGYRCGCPQGYIQHYQWNQCVDENECSNPNACGSASCYNTLGSYKCACPSGFSFDQFSSACHDVNECSSSKNPCNYGCSNTEGGYLCGCPPGYYRVGQGHCVSGMGFNKGQYLSMDTEVDEENALSPEACYECKINGYSKKDNRQKRSIHEPKHIAVKQISLESVDMDSPVMMKFNVSGLGAKEHIVEFMPAIEPLNNHIRYVISQGNDDGVFRIHQRNGLSYLHTAKRKLVPGMYTLEITSVPLYKKKELKKLEDSNEDDYLLGELGEALRMRLQIQLY", "length": 2912 }, "evidence": [ { "id": "P35556", "url": "https://omabrowser.org/oma/group/P35556/", "database": "OMA" } ], "glygen_name": "Bovine", "common_name": "Bovine" }, { "uniprot_canonical_ac": "Q61555-1", "protein_name": "Fibrillin-2", "gene_name": "Fbn2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGRRRRLCLQPYFVWLGCVALWAQGTDGQPQPPPPKTLRPQPPPQQVRPAVAGSEGGFMGPEYRDEGAVAASRVRRRGQQEILRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCGDGFCSRPNMCTCSSGQISPTCGAKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVCENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCCATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGLCQGGNCINTVGSFECRCPAGHKQSETTQKCEDIDECSVIPGVCETGDCSNTVGSYFCLCPRGFVTSTDGSRCIDQRAGTCFSGLVNGRCAQELPGRMAKAQCCCEPGRCWSIGTIPEACPVRGSEEYRRLCLDGLPMGGIPGSSVSRPGGTGSTGNGYGPGGTGFLPIPGDNGFSPGVGGAGVGAGGQGPIITGLTILNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGYKQDANGDCIDVDECTSNPCSNGDCVNTPGSYYCKCHAGFQRTPTKQACIDIDECIQNGVLCKNGRCVNTDGSFQCICNAGFELTTDGKNCVDHDECTTTNMCLNGMCINEDGSFKCVCKPGFILAPNGRYCTDVDECQTPGICMNGHCINNEGSFRCDCPPGLAVGVDGRVCVDTHMRSTCYGEIKKGVCVRPFPGAVTKSECCCANPDYGFGEPCQPCPAKNSAEFHGLCSSGIGITVDGRDINECALDPDICANGICENLRGSYRCNCNSGYEPDASGRNCIDIDECLVNRLLCDNGLCRNTPGSYSCTCPPGYVFRTETETCEDVNECESNPCVNGACRNNLGSFHCECSPGSKLSSTGLICIDSLKGTCWLNIQDNRCEVNINGATLKSECCATLGAAWGSPCERCELDAACPRGFARIKGVTCEDVNECEVFPGVCPNGRCVNSKGSFHCECPEGLTLDGTGRVCLDIRMEHCFLKWDEDECIHPVPGKFRMDACCCAVGAAWGTECEECPKPGTKEYETLCPRGPGFANRGDILTGRPFYKDINECKAFPGMCTYGKCRNTIGSFKCRCNNGFALDMEERNCTDIDECRISPDLCGSGICVNTPGSFECECFEGYESGFMMMKNCMDIDECERNPLLCRGGTCVNTEGSFQCDCPLGHELSPSREDCVDINECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCTDIDECMIMNGGCDTQCTNSEGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASMDMKTCIDVNECDLNPNICMFGECENTKGSFICHCQLGYSVKKGTTGCTDVDECEIGAHNCDMHASCLNVPGSFKCSCREGWVGNGIKCIDLDECANGTHQCSINAQCVNTPGSYRCACSEGFTGDGFTCSDVDECAENTNLCENGQCLNVPGAYRCECEMGFTPASDSRSCQDIDECSFQNICVFGTCNNLPGMFHCICDDGYELDRTGGNCTDIDECADPINCVNGLCVNTPGRYECNCPPDFQLNPTGVGCVDNRVGNCYLKFGPRGDGSLSCNTEVGVGVSRSSCCCSLGKAWGNPCETCPPVNSTEYYTLCPGGEGFRPNPITIILEDIDECQELPGLCQGGNCINTFGSFQCECPQGYYLSEETRICEDIDECFAHPGVCGPGTCYNTLGNYTCICPPEYMQVNGGHNCMDMRKSFCYRSYNGTTCENELPFNVTKRMCCCTYNVGKAWNKPCEPCPTPGTADFKTICGNIPGFTFDIHTGKAVDIDECKEIPGICANGVCINQIGSFRCECPTGFSYNDLLLVCEDIDECSNGDNLCQRNADCINSPGSYRCECAAGFKLSPNGACVDRNECLEIPNVCSHGLCVDLQGSYQCICNNGFKASQDQTMCMDVDECERHPCGNGTCKNTVGSYNCLCYPGFELTHNNDCLDIDECSSFFGQVCRNGRCFNEIGSFKCLCNEGYELTPDGKNCIDTNECVALPGSCSPGTCQNLEGSFRCICPPGYEVRSENCIDINECDEDPNICLFGSCTNTPGGFQCICPPGFVLSDNGRRCFDTRQSFCFTNFENGKCSVPKAFNTTKAKCCCSKMPGEGWGDPCELCPKDDEVAFQDLCPYGHGTVPSLHDTREDVNECLESPGICSNGQCINTDGSFRCECPMGYNLDYTGVRCVDTDECSIGNPCGNGTCTNVIGSFECTCNEGFEPGPMMNCEDINECAQNPLLCAFRCMNTFGSYECTCPVGYALREDQKMCKDLDECAEGLHDCESRGMMCKNLIGTFMCICPPGMARRPDGEGCVDENECRTKPGICENGRCVNIIGSYRCECNEGFQSSSSGTECLDNRQGLCFAEVLQTMCQMASSSRNLVTKSECCCDGGRGWGHQCELCPLPGTAQYKKICPHGPGYATDGRDIDECKVMPSLCTNGQCVNTMGSFRCFCKVGYTTDISGTACVDLDECSQSPKPCNFICKNTKGSYQCSCPRGYVLQEDGKTCKDLDECQTKQHNCQFLCVNTLGGFTCKCPPGFTQHHTACIDNNECGSQPSLCGAKGICQNTPGSFSCECQRGFSLDASGLNCEDVDECDGNHRCQHGCQNILGGYRCGCPQGYVQHYQWNQCVDENECSNPGACGSASCYNTLGSYKCACPSGFSFDQFSSACHDVNECSSSKNPCSYGCSNTEGGYLCGCPPGYFRVGQGHCVSGMGFNKGQYLSVDAEAEDDENALSPEACYECKINGYTKKDGRRKRSAQEPEPASAEEQISLESVAMDSPVNMKFNLSGLGSKEHILELVPAIEPLNNHIRYVISQGNEDGVFRIHQRNGLSYLHTAKKKLAPGTYTLEITSIPLYGKKELRKLEEHNEDDYLLGVLGEALRMRLQIQLY", "length": 2907 }, "evidence": [ { "id": "RGD:620910", "url": "https://alliancegenome.org/gene/RGD:620910#orthology", "database": "AGR" }, { "id": "MGI:95490", "url": "https://alliancegenome.org/gene/MGI:95490#orthology", "database": "AGR" }, { "id": "HGNC:3604", "url": "https://alliancegenome.org/gene/HGNC:3604#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-090112-3", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-090112-3#orthology", "database": "AGR" }, { "id": "P35556", "url": "https://omabrowser.org/oma/group/P35556/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P35556", "url": "https://www.uniprot.org/uniprotkb/P35556" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P35556", "url": "https://www.uniprot.org/uniprotkb/P35556" } ], "pmid": "" }, { "name": "microfibril", "id": "GO:0001527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001527", "evidence": [ { "database": "UniProtKB", "id": "P35556", "url": "https://www.uniprot.org/uniprotkb/P35556" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P35556", "url": "https://www.uniprot.org/uniprotkb/P35556" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P35556", "url": "https://www.uniprot.org/uniprotkb/P35556" } ], "pmid": "" }, { "name": "extracellular matrix structural 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