{ "uniprot_canonical_ac": "Q9BXX0-1", "uniprot_ac": "Q9BXX0", "uniprot_id": "EMIL2_HUMAN", "mass": { "chemical_mass": 115687.0, "monoisotopic_mass": 115687.0 }, "refseq": { "ac": "NP_114437", "name": "EMILIN-2 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437" }, "gene_names": [ { "name": "EMILIN2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9BXX0", "id": "Q9BXX0" }, { "name": "EMILIN-2; FOAP-10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437", "id": "NP_114437" }, { "name": "EMILIN2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437", "id": "NP_114437" } ], "protein_names": [ { "name": "EMILIN-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9BXX0" }, { "name": "EMILIN-2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437", "id": "NP_114437" }, { "name": "Elastin microfibril interface-located protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BXX0" }, { "name": "Elastin microfibril interfacer 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BXX0" }, { "name": "Protein FOAP-10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9BXX0" }, { "name": "extracellular glycoprotein EMILIN-2; elastin microfibril interface-located protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437", "id": "NP_114437" } ], "function": [ { "annotation": "Decreased EMILIN2 correlates to metabolism phenotype and poor prognosis of ovarian cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_114437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437" }, { "database": "PubMed", "id": "35588228", "url": "https://glygen.org/publication/PubMed/35588228" } ] }, { "annotation": "EMILIN1 interacts with anthrax protective antigen and inhibits toxin action in vitro. EMILIN1 may be a potential target and/or a protein useful for countermeasures against B. anthracis toxin lethality.", "evidence": [ { "database": "RefSeq", "id": "NP_114437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437" }, { "database": "PubMed", "id": "17988845", "url": "https://glygen.org/publication/PubMed/17988845" } ] }, { "annotation": "Expression, methylation and prognostic feature of EMILIN2 in Low-Grade-Glioma.", "evidence": [ { "database": "RefSeq", "id": "NP_114437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437" }, { "database": "PubMed", "id": "34280481", "url": "https://glygen.org/publication/PubMed/34280481" } ] }, { "annotation": "High EMILIN2 expression is associated with angiogenesis in B16 melanoma.", "evidence": [ { "database": "RefSeq", "id": "NP_114437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437" }, { "database": "PubMed", "id": "29483644", "url": "https://glygen.org/publication/PubMed/29483644" } ] }, { "annotation": "Loss of Multimerin-2 and EMILIN-2 Expression in Gastric Cancer Associate with Altered Angiogenesis Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_114437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437" }, { "database": "PubMed", "id": "30544909", "url": "https://glygen.org/publication/PubMed/30544909" } ] }, { "annotation": "May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0#function" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_114437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437" }, { "database": "PubMed", "id": "19913121", "url": "https://glygen.org/publication/PubMed/19913121" } ] }, { "annotation": "Results suggest that the expression of EMILIN2 triggers the apoptosis of different cell lines by activation of death receptors.", "evidence": [ { "database": "RefSeq", "id": "NP_114437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437" }, { "database": "PubMed", "id": "17698584", "url": "https://glygen.org/publication/PubMed/17698584" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs756296021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756296021" }, { "id": "rs756296021", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756296021" }, { "id": "rs756296021", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756296021" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 57, "end_pos": 57, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SCS->NCS); n-glyco-sequon-loss (NVS->NVN).", "chr_id": "18", "chr_pos": "2847844", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S57", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9BXX0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9BXX0" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 759, "end_pos": 759, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 2 out of 6 filters: num. of cancers (3); n-glyco-sequon-gain (KNS->NNS).", "chr_id": "18", "chr_pos": "2892404", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K759", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, 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"malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs961626349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs961626349" }, { "id": "rs961626349", 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9BXX0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BXX0" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"length": 1053, "header": "sp|Q9BXX0-1|EMIL2_HUMAN Isoform 1 of EMILIN-2 OS=Homo sapiens OX=9606 GN=EMILIN2 PE=1 SV=3 CANONICAL=Q9BXX0-1" }, "isoforms": [ { "isoform_ac": "Q9BXX0-1", "url": "", "sequence": { "sequence": "MWQPRRPWPRVPWRWALALLALVGAGLCHAGPQPGYPARPSARNKNWCAYIVNKNVSCSVLEGSESFIQAQYNCAWNQMPCPSALVYRVNFRPRYVTRYKTVTQLEWRCCPGFRGGDCQEGPKDPVKTLRPTPARPRNSLKKATDNEPSQFSEPRKTLSPTGTAQPSWGVDPKEGPQELQEKKIQVLEEKVLRLTRTVLDLQSSLAGVSENLKHATQDDASRTRAPGLSSQHPKPDTTVSGDTETGQSPGVFNTKESGMKDIKSELAEVKDTLKNKSDKLEELDGKVKGYEGQLRQLQEAAQGPTVTMTTNELYQAYVDSKIDALREELMEGMDRKLADLKNSCEYKLTGLQQQCDDYGSSYLGVIELIGEKETSLRKEINNLRARLQEPSAQANCCDSEKNGDIGQQIKTLDQKIERVAEATRMLNGRLDNEFDRLIVPEPDVDFDAKWNELDARINVTEKNAEEHCFYIEETLRGAINGEVGDLKQLVDQKIQSLEDRLGSVLLQMTNNTGAELSPPGAAALPGVSGSGDERVMMELNHLKDKVQVVEDICLLNIQGKPHGMEGALPNREDRAVRDSLHLLKSLNDTMHRKFQETEQTIQKLQQDFSFLYSQLNHTENDVTHLQKEMSNCRAGENAGMGRFTKVGEQERTVDTLPSPQHPVAHCCSQLEERWQRLQSQVISELDACKECTQGVQREVSMVEGRVSHMEKTCSKLDSISGNLQRIKEGLNKHVSSLWNCVRQMNGTLRSHSRDISGLKNSVQQFYSHVFQISTDLQDLVKFQPSAKAPSPPPPAEAPKEPLQPEPAPPRPSGPATAEDPGRRPVLPQRPPEERPPQPPGSTGVIAETGQAGPPAGAGVSGRGLPRGVDGQTGSGTVPGAEGFAGAPGYPKSPPVASPGAPVPSLVSFSAGLTQKPFPSDGGVVLFNKVLVNDGDVYNPSTGVFTAPYDGRYLITATLTPERDAYVEAVLSVSNASVAQLHTAGYRREFLEYHRPPGALHTCGGPGAFHLIVHLKAGDAVNVVVTGGKLAHTDFDEMYSTFSGVFLYPFLSHL", "length": 1053, "header": "sp|Q9BXX0-1|EMIL2_HUMAN Isoform 1 of EMILIN-2 OS=Homo sapiens OX=9606 GN=EMILIN2 PE=1 SV=3 CANONICAL=Q9BXX0-1" }, "locus": { "chromosome": "18", "start_pos": 2913401, "end_pos": 2847189, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000254528.4", "url": "https://www.ensembl.org/id/ENST00000254528.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000254528.3", "url": "https://www.ensembl.org/id/ENSP00000254528.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 144, "start_aa": "Thr", "end_pos": 144, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr144", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "KTLSPTGTAQPSWGVDPK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 156, "start_aa": "Lys", "end_pos": 173, "end_aa": "Lys", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "TLSPTGTAQPSWGVDPK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 157, "start_aa": "Thr", "end_pos": 173, "end_aa": "Lys", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 159, "start_aa": "Ser", "end_pos": 159, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser159", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "SPT", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 159, "start_aa": "Ser", "end_pos": 161, "end_aa": "Thr", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 161, "start_aa": "Thr", "end_pos": 161, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr161", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 163, "start_aa": "Thr", "end_pos": 163, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr163", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 163, "start_aa": "Thr", "end_pos": 163, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr163", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 163, "start_aa": "Thr", "end_pos": 163, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr163", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 223, "start_aa": "Thr", "end_pos": 223, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr223", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 223, "start_aa": "Thr", "end_pos": 223, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr223", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 238, "start_aa": "Thr", "end_pos": 238, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr238", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 238, "start_aa": "Thr", "end_pos": 238, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr238", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 245, "start_aa": "Thr", "end_pos": 245, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr245", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 248, "start_aa": "Ser", "end_pos": 248, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser248", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 275, "start_aa": "Asn", "end_pos": 275, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn275", "evidence": [ { "id": "Q9BXX0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BXX0#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 305, "start_aa": "Thr", "end_pos": 305, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr305", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 307, "start_aa": "Thr", "end_pos": 307, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr307", "evidence": [ { "id": "Q9BXX0", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": 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Chem.", "date": "2001", "authors": "Doliana R, Bot S, Mungiguerra G, Canton A, Cilli SP, Colombatti A", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "reference": [ { "type": "PubMed", "id": "11278945", "url": "https://glygen.org/publication/PubMed/11278945" } ] }, { "title": "The integrin alpha(v)beta8 mediates epithelial homeostasis through MT1-MMP-dependent activation of TGF-beta1.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Mu D, Cambier S, Fjellbirkeland L, Baron JL, Munger JS, Kawakatsu H, Sheppard D, Broaddus VC, Nishimura SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "11970960", "url": "https://glygen.org/publication/PubMed/11970960" } ] }, { "title": "The integrin alphavbeta3 is a receptor for the latency-associated peptides of transforming growth factors beta1 and beta3.", "journal": "The Biochemical journal", "date": "2003", "authors": "Ludbrook SB, Barry ST, Delves CJ, Horgan CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "12358597", "url": "https://glygen.org/publication/PubMed/12358597" } ] }, { "title": "Integrin alpha8beta1 mediates adhesion to LAP-TGFbeta1.", "journal": "Journal of cell science", "date": "2002", "authors": "Lu M, Munger JS, Steadele M, Busald C, Tellier M, Schnapp LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "12415008", "url": "https://glygen.org/publication/PubMed/12415008" } ] }, { "title": "Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Isogai Z, Ono RN, Ushiro S, Keene DR, Chen Y, Mazzieri R, Charbonneau NL, Reinhardt DP, Rifkin DB, Sakai LY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "12429738", "url": "https://glygen.org/publication/PubMed/12429738" } ] }, { "title": "Fibulin binds to itself and to the carboxyl-terminal heparin-binding region of fibronectin.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Balbona K, Tran H, Godyna S, Ingham KC, Strickland DK, Argraves WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "1400330", "url": "https://glygen.org/publication/PubMed/1400330" } ] }, { "title": "EMILIN-1 deficiency induces elastogenesis and vascular cell defects.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Zanetti M, Braghetta P, Sabatelli P, Mura I, Doliana R, Colombatti A, Volpin D, Bonaldo P, Bressan GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "14701737", "url": "https://glygen.org/publication/PubMed/14701737" } ] }, { "title": "Tissue vitronectin in normal adult human dermis is non-covalently bound to elastic tissue.", "journal": "The Journal of investigative dermatology", "date": "1991", "authors": "Hintner H, Dahlback K, Dahlback B, Pepys MB, Breathnach SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "1708799", "url": "https://glygen.org/publication/PubMed/1708799" } ] }, { "title": "A comparative analysis of the fibulin protein family. 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"PubMed", "id": "34280481", "url": "https://glygen.org/publication/PubMed/34280481" } ] }, { "title": "Decreased EMILIN2 correlates to metabolism phenotype and poor prognosis of ovarian cancer.", "journal": "Journal of biochemistry", "date": "2022", "authors": "Tang X, Li F", "evidence": [ { "database": "RefSeq", "id": "NP_114437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437" } ], "reference": [ { "type": "PubMed", "id": "35588228", "url": "https://glygen.org/publication/PubMed/35588228" } ] }, { "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": "Q9BXX0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BXX0" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "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": "Interactions between growth factors and integrins: latent forms of transforming growth factor-beta are ligands for the integrin alphavbeta1.", "journal": "Molecular biology of the cell", "date": "1998", "authors": "Munger JS, Harpel JG, Giancotti FG, Rifkin DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "9725916", "url": "https://glygen.org/publication/PubMed/9725916" } ] } ], "pathway": [ { "id": "hsa:84034", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:84034", "resource": "KEGG Pathway" }, { "id": "R-HSA-2129379", "name": "Molecules associated with elastic fibres", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379", "resource": "Reactome", "description": "Molecules associated with elastic fibres" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8K482-1", "protein_name": "EMILIN-2", "gene_name": "Emilin2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MCQETPPRPRAPSRWTPALLALLALGGAGLCHASSQPGYHARPSARNKNWCAYIVNKNVSCTVQEGSESFIQAQYNCPWNQMPCPSALVYRVNFRPRFVTRYKIVTQLEWRCCPGFRGPDCQEGPKDHMKTPRPPSARPKNNLKKATDTDPSQVSQPKKTLSPTNAVEPGQVADAKQGPPELQQSKVQVLEEKVVRLTRMVLDLQSTVVGLKENLKHTIQDDGRKEPDSWLGPLHPQPTPDSPLAGDAEPSQLPGIPSSKESGMKDIKSELAEVKDTLKTKSDKLEELDGKVKGYEGQLKQLQEAAQGPTVTMTTNELYQAYVDSKIDALREELMEGMDRKLADLKNTCEYKLVGLQQQCDDYGSSYLGVIELIGEKEASLKKDIADLRAQLQDPVAQPSCCNGQKSSDFGPQIKALDQKIERVAEATRMLNGRLDNEFDRLSVPEPDADFDARWTELDARINVTEKNAEEHCFYIEETLRGTINGEVDDLRKLLNEKIHSLEDRLGIVLQAANSSDVELTPMGPALPEQPGAENEQVLMELSRLKDKVQVVEDFCLQSLPHGIDGALPSVEDLTHVSLSLLESLNDTMHRQFQETSHSIQKLQEDVNALHSQLNHSECTGTYLQNGVSDSRTGDSMEASGFTKTGEQERTVGTVPSPGTPAAPCCGQLEERWQKLQNQMLAELDTCKESAHGVQSGVSAIEGRVFQLEQTCRRLDTISGSLQRIKEGLGKHVGSLWNCIRQMNGTLKSHSRDISGLKNSVQQFYSHVFQISTDLQDLVKFQPSATEEPSEATEGPSGKTPLESTRPSEEAPTEPPRLTPLPEDPAGPPQTGQQPVLPQRPLQPPPLPAWPGRTGLPFLPGSSGVIMETGEAGPPGRMGVSGRGLPRGVDGQMGQGPIHSSEGYAGAPGYPKSPPVTTPGVPLPTLVSFSAGLTQKPFPSDGGVVLFNKVLVNDGDVYNPNTGIFTAPYDGRYLITATLTPERDTYVEAVLSVSNASVAQLHTAGYRREFLEYHRPPGAVHTCGGPGAFHLIVHLKAGDGVNVVVTGGRLAHTDFDEMYSTFSGVFLYPFLSHL", "length": 1074 }, "evidence": [ { "id": "45229503", "url": "http://www.informatics.jax.org/homology/45229503", "database": "MGI" }, { "id": "Q9BXX0", "url": "https://omabrowser.org/oma/group/Q9BXX0/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" }, { "name": "collagen trimer", "id": "GO:0005581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005581", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" }, { "name": "EMILIN complex", "id": "GO:1990971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990971", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" }, { "name": "positive regulation of blood coagulation", "id": "GO:0030194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030194", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" }, { "name": "positive regulation of defense response to bacterium", "id": "GO:1900426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900426", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" }, { "name": "positive regulation of platelet aggregation", "id": "GO:1901731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901731", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "extracellular matrix constituent conferring elasticity", "id": "GO:0030023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030023", "evidence": [ { "database": "UniProtKB", "id": "Q9BXX0", "url": "https://www.uniprot.org/uniprot/Q9BXX0" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "EMILIN-2 O-glycosylated 1 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Ser-248 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Ser-248, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058012", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058012" } ] }, { "name": "EMILIN-2 O-glycosylated 2 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Ser-658 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Ser-658, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058013", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058013" } ] }, { "name": "EMILIN-2 O-glycosylated 3 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Ser-790 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Ser-790, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058014", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058014" } ] }, { "name": "EMILIN-2 O-glycosylated 4 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Ser-812 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Ser-812, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058015", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058015" } ] }, { "name": "EMILIN-2 O-glycosylated 5 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Thr-163 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:Q9BXX0-1, Thr-163, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058016", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058016" } ] }, { "name": "EMILIN-2 O-glycosylated 6 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Thr-163 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Thr-163, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058017", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058017" } ] }, { "name": "EMILIN-2 O-glycosylated 7 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Thr-223 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Thr-223, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058018", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058018" } ] }, { "name": "EMILIN-2 O-glycosylated 8 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Thr-238 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Thr-238, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058019", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058019" } ] }, { "name": "EMILIN-2 O-glycosylated 9 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Thr-245 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Thr-245, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058020", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058020" } ] }, { "name": "EMILIN-2 O-glycosylated 10 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Thr-305 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Thr-305, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058021", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058021" } ] }, { "name": "EMILIN-2 O-glycosylated 11 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Thr-307 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Thr-307, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058022", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058022" } ] }, { "name": "EMILIN-2 O-glycosylated 12 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Thr-309 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Thr-309, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058023", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058023" } ] }, { "name": "EMILIN-2 O-glycosylated 13 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Thr-309 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:Q9BXX0-1, Thr-309, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058024", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058024" } ] }, { "name": "EMILIN-2 O-glycosylated 14 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Thr-310 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Thr-310, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058025", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058025" } ] }, { "name": "EMILIN-2 O-glycosylated 15 (human)", "definition": "An EMILIN-2 (human) that has been O-glycosylated at the residue equivalent to Thr-842 of the amino acid sequence represented by UniProtKB:Q9BXX0-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9BXX0-1, Thr-842, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000058026", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000058026" } ] } ], "site_annotation": [ { "start_pos": 275, "end_pos": 277, "annotation": "n_glycosylation_sequon" }, { "start_pos": 458, "end_pos": 460, "annotation": "n_glycosylation_sequon" }, { "start_pos": 510, "end_pos": 512, "annotation": "n_glycosylation_sequon" }, { "start_pos": 55, "end_pos": 57, "annotation": "n_glycosylation_sequon" }, { "start_pos": 587, "end_pos": 589, "annotation": "n_glycosylation_sequon" }, { "start_pos": 616, "end_pos": 618, "annotation": "n_glycosylation_sequon" }, { "start_pos": 745, "end_pos": 747, "annotation": "n_glycosylation_sequon" }, { "start_pos": 974, "end_pos": 976, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 36 }, { "field": "total_sites", "count": 27 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 10 }, { "field": "o_linked_glycans", "count": 5 }, { "field": "o_linked_glycan_sites", "count": 17 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 26 }, { "field": "total_sites", "count": 17 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 5 }, { "field": "o_linked_glycan_sites", "count": 17 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 46 }, { "field": "total_sites", "count": 36 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 35 }, { "field": "total_sites", "count": 30 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 33 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }