{ "uniprot_canonical_ac": "O95049-1", "uniprot_ac": "O95049", "uniprot_id": "ZO3_HUMAN", "mass": { "chemical_mass": 101397.0, "monoisotopic_mass": 101397.0 }, "refseq": { "ac": "NP_001254489", "name": "tight junction protein ZO-3 isoform 1", "summary": "The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489" }, "gene_names": [ { "name": "TJP3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95049", "id": "O95049" }, { "name": "TJP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489", "id": "NP_001254489" }, { "name": "ZO-3; ZO3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489", "id": "NP_001254489" }, { "name": "ZO3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95049", "id": "O95049" } ], "protein_names": [ { "name": "Tight junction protein ZO-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95049" }, { "name": "Tight junction protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95049" }, { "name": "Zona occludens protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95049" }, { "name": "Zonula occludens protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95049" }, { "name": "tight junction protein ZO-3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489", "id": "NP_001254489" }, { "name": "tight junction protein ZO-3; zona occludens protein 3; zonula occludens protein 3; tight junction protein 3 (zona occludens 3)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489", "id": "NP_001254489" } ], "function": [ { "annotation": "Long noncoding RNA NEAT1 promotes ovarian cancer cell invasion and migration by interacting with miR1321 and regulating tight junction protein 3 expression.", "evidence": [ { "database": "RefSeq", "id": "NP_001254489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489" }, { "database": "PubMed", "id": "32945443", "url": "https://glygen.org/publication/PubMed/32945443" } ] }, { "annotation": "TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:16129888). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Binds and recruits PATJ to tight junctions where it connects and stabilizes apical and lateral components of tight junctions (PubMed:16129888). Promotes cell-cycle progression through the sequestration of cyclin D1 (CCND1) at tight junctions during mitosis which prevents CCND1 degradation during M-phase and enables S-phase transition (PubMed:21411630). With TJP1 and TJP2, participates in the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity). Contrary to TJP2, TJP3 is dispensable for individual viability, embryonic development, epithelial differentiation, and the establishment of TJs, at least in the laboratory environment (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049#function" }, { "database": "UniProtKB", "id": "Q9QXY1", "url": "https://www.uniprot.org/uniprot/Q9QXY1#function" }, { "database": "PubMed", "id": "21411630", "url": "https://glygen.org/publication/PubMed/21411630" }, { "database": "UniProtKB", "id": "O62683", "url": "https://www.uniprot.org/uniprot/O62683#function" }, { "database": "PubMed", "id": "16129888", "url": "https://glygen.org/publication/PubMed/16129888" } ] }, { "annotation": "TJP3 promotes T cell immunity escape and chemoresistance in breast cancer: a comprehensive analysis of anoikis-based prognosis prediction and drug sensitivity stratification.", "evidence": [ { "database": "RefSeq", "id": "NP_001254489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489" }, { "database": "PubMed", "id": "37950731", "url": "https://glygen.org/publication/PubMed/37950731" } ] }, { "annotation": "The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001254489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489" } ] }, { "annotation": "Tight function zonula occludens-3 regulates cyclin D1-dependent cell proliferation", "evidence": [ { "database": "RefSeq", "id": "NP_001254489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489" }, { "database": "PubMed", "id": "21411630", "url": "https://glygen.org/publication/PubMed/21411630" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs766424577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766424577" }, { "id": "rs766424577", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766424577" }, { "id": "rs766424577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766424577" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 133, "end_pos": 133, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "19", "chr_pos": "3730490", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs567056144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs567056144" }, { "id": "rs567056144", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs567056144" }, { "id": "rs567056144", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs567056144" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 280, "end_pos": 280, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIP->NIT).", "chr_id": "19", "chr_pos": "3733873", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "P280", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770492491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770492491" }, { "id": "rs770492491", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770492491" }, { "id": "rs770492491", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770492491" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 284, "end_pos": 284, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SDS->NDS).", "chr_id": "19", "chr_pos": "3733886", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S284", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772065188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772065188" }, { "id": "rs772065188", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772065188" }, { "id": "rs772065188", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772065188#frequency_tab" }, { "id": "rs772065188", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772065188" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 287, "end_pos": 287, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "19", "chr_pos": "3733894", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D287", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95049", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95049" } ], "glycoeffect": [], "start_pos": 318, "end_pos": 318, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs200603772.", "chr_id": "19", "chr_pos": "3734402", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R318", "keywords": [ "biomuta", "somatic", "cancer" ] }, { "evidence": [ { "id": "rs554862128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554862128" }, { "id": "rs554862128", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554862128" }, { "id": "rs554862128", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554862128" }, { "id": "rs554862128", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs554862128" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 323, "end_pos": 323, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQT->NQT).", "chr_id": "19", "chr_pos": "3734417", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "S323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1384483414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384483414" }, { "id": "rs1384483414", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384483414#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 369, "end_pos": 369, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "19", "chr_pos": "3735913", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S369", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1461438573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1461438573" }, { "id": "rs1461438573", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1461438573" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 594, "end_pos": 594, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "19", "chr_pos": "3740700", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D594", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs146296894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146296894" }, { "id": "rs146296894", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146296894" }, { "id": "rs146296894", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146296894#frequency_tab" }, { "id": "rs146296894", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146296894" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 749, "end_pos": 749, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SDT->NDT).", "chr_id": "19", "chr_pos": "3746800", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S749", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745434516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745434516" }, { "id": "rs745434516", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745434516" }, { "id": "rs745434516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745434516#frequency_tab" }, { "id": "rs745434516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745434516" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 792, "end_pos": 792, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "19", "chr_pos": "3747845", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D792", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232695520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232695520" }, { "id": "rs1232695520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232695520" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 852, "end_pos": 852, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "19", "chr_pos": "3748025", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D852", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "70.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "83.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "63.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "53.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "81.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "73.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "60.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "76.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95049", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95049" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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: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": 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"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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95049", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95049" } ], "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": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"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": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95049" } ], "disease": [ { "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": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "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": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "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 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"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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95049", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95049" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95049", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95049" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95049", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95049" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "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": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "common_name": "Human" } ], "gene": [ { "name": "TJP3", "url": "https://www.uniprot.org/uniprot/O95049", "locus": { "chromosome": "19", "start_pos": 3750813, "end_pos": 3708362, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105289", "url": "https://www.ensembl.org/id/ENSG00000105289" } ] } } ], "crossref": [ { "id": "ENSG00000105289", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105289", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95049", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95049", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00992", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00992", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd12028", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12028", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "TJP3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TJP3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "27134", "url": "https://www.ncbi.nlm.nih.gov/gene/27134", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11829", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11829", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95049", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95049*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001452", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001452", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001478", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001478", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005420", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005420", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008144", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008144", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008145", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008145", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036028", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036028", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036034", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036034", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:27134", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27134", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "612689", "url": "http://www.omim.org/entry/612689", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95049", "url": "https://www.nextprot.org/entry/NX_O95049", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95049", "url": "https://oglcnac.org/atlas/detail/O95049", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O95049", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95049", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "MEEVTIW", "url": "https://omabrowser.org/oma/group/MEEVTIW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2904077at2759", "url": "http://www.orthodb.org/?query=2904077at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13865", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13865", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13865:SF11", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13865:SF11", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3KFV", "url": "https://www.rcsb.org/structure/3KFV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00595", "url": "http://pfam.xfam.org/family/PF00595", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00625", "url": "http://pfam.xfam.org/family/PF00625", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07653", "url": "http://pfam.xfam.org/family/PF07653", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95049", "url": "https://pharos.nih.gov/targets/O95049", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95049", "url": "http://purl.obolibrary.org/obo/PR_O95049", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001254489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "K7EJ86", "url": "https://www.uniprot.org/uniprot/K7EJ86", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJ86-1", "url": "https://www.uniprot.org/uniprot/K7EJ86-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ESC0", "url": "https://www.uniprot.org/uniprot/K7ESC0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ESC0-1", "url": "https://www.uniprot.org/uniprot/K7ESC0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95049-1", "url": "https://www.uniprot.org/uniprot/O95049-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95049-3", "url": "https://www.uniprot.org/uniprot/O95049-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95049-4", "url": "https://www.uniprot.org/uniprot/O95049-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95049-5", "url": "https://www.uniprot.org/uniprot/O95049-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEELTIWEQHTATLSKDPRRGFGIAISGGRDRPGGSMVVSDVVPGGPAEGRLQTGDHIVMVNGVSMENATSAFAIQILKTCTKMANITVKRPRRIHLPATKASPSSPGRQDSDEDDGPQRVEEVDQGRGYDGDSSSGSGRSWDERSRRPRPGRRGRAGSHGRRSPGGGSEANGLALVSGFKRLPRQDVQMKPVKSVLVKRRDSEEFGVKLGSQIFIKHITDSGLAARHRGLQEGDLILQINGVSSQNLSLNDTRRLIEKSEGKLSLLVLRDRGQFLVNIPPAVSDSDSSPLEDISDLASELSQAPPSHIPPPPRHAQRSPEASQTDSPVESPRLRRESSVDSRTISEPDEQRSELPRESSYDIYRVPSSQSMEDRGYSPDTRVVRFLKGKSIGLRLAGGNDVGIFVSGVQAGSPADGQGIQEGDQILQVNDVPFQNLTREEAVQFLLGLPPGEEMELVTQRKQDIFWKMVQSRVGDSFYIRTHFELEPSPPSGLGFTRGDVFHVLDTLHPGPGQSHARGGHWLAVRMGRDLREQERGIIPNQSRAEQLASLEAAQRAVGVGPGSSAGSNARAEFWRLRGLRRGAKKTTQRSREDLSALTRQGRYPPYERVVLREASFKRPVVILGPVADIAMQKLTAEMPDQFEIAETVSRTDSPSKIIKLDTVRVIAEKDKHALLDVTPSAIERLNYVQYYPIVVFFIPESRPALKALRQWLAPASRRSTRRLYAQAQKLRKHSSHLFTATIPLNGTSDTWYQELKAIIREQQTRPIWTAEDQLDGSLEDNLDLPHHGLADSSADLSCDSRVNSDYETDGEGGAYTDGEGYTDGEGGPYTDVDDEPPAPALARSSEPVQADESQSPRDRGRISAHQGAQVDSRHPQGQWRQDSMRTYEREALKKKFMRVHDAESSDEDGYDWGPATDL", "length": 919, "header": "sp|O95049-1|ZO3_HUMAN Isoform 1 of Tight junction protein ZO-3 OS=Homo sapiens OX=9606 GN=TJP3 PE=1 SV=3 CANONICAL=O95049-1" }, "isoforms": [ { "isoform_ac": "K7EJ86-1", "url": "", "sequence": { "sequence": "XLYAQAQKLRKHSSHLFTGAQGHHSRAADAAHLDGGRSAGWLLGGQPRPPSPRPGRQLR", "length": 59, "header": "tr|K7EJ86-1|K7EJ86_HUMAN Computationally mapped isoform of Tight junction protein 3 OS=Homo sapiens OX=9606 GN=TJP3 PE=4 SV=1 CANONICAL=O95049-1" }, "locus": { "chromosome": "19", "start_pos": 3747857, "end_pos": 3746643, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586032.5", "url": "https://www.ensembl.org/id/ENST00000586032.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465065.1", "url": "https://www.ensembl.org/id/ENSP00000465065.1" } ] } }, { "isoform_ac": "K7ESC0-1", "url": "", "sequence": { "sequence": "MEELTIWEQHTATLSKQLFLPLILSQDPRRGFGIAISGGRDRPGGSMVVSDVVPGGPAEGRLQTGDHIVMVNGVSMENATSAFAIQILKTCTKMANITVKRPRRIHLPATKASPSSPGRQDSD", "length": 123, "header": "tr|K7ESC0-1|K7ESC0_HUMAN Computationally mapped isoform of Tight junction protein 3 OS=Homo sapiens OX=9606 GN=TJP3 PE=1 SV=1 CANONICAL=O95049-1" }, "locus": { "chromosome": "19", "start_pos": 3730432, "end_pos": 3728433, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590545.5", "url": "https://www.ensembl.org/id/ENST00000590545.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468641.1", "url": "https://www.ensembl.org/id/ENSP00000468641.1" } ] } }, { "isoform_ac": "O95049-1", "url": "", "sequence": { "sequence": "MEELTIWEQHTATLSKDPRRGFGIAISGGRDRPGGSMVVSDVVPGGPAEGRLQTGDHIVMVNGVSMENATSAFAIQILKTCTKMANITVKRPRRIHLPATKASPSSPGRQDSDEDDGPQRVEEVDQGRGYDGDSSSGSGRSWDERSRRPRPGRRGRAGSHGRRSPGGGSEANGLALVSGFKRLPRQDVQMKPVKSVLVKRRDSEEFGVKLGSQIFIKHITDSGLAARHRGLQEGDLILQINGVSSQNLSLNDTRRLIEKSEGKLSLLVLRDRGQFLVNIPPAVSDSDSSPLEDISDLASELSQAPPSHIPPPPRHAQRSPEASQTDSPVESPRLRRESSVDSRTISEPDEQRSELPRESSYDIYRVPSSQSMEDRGYSPDTRVVRFLKGKSIGLRLAGGNDVGIFVSGVQAGSPADGQGIQEGDQILQVNDVPFQNLTREEAVQFLLGLPPGEEMELVTQRKQDIFWKMVQSRVGDSFYIRTHFELEPSPPSGLGFTRGDVFHVLDTLHPGPGQSHARGGHWLAVRMGRDLREQERGIIPNQSRAEQLASLEAAQRAVGVGPGSSAGSNARAEFWRLRGLRRGAKKTTQRSREDLSALTRQGRYPPYERVVLREASFKRPVVILGPVADIAMQKLTAEMPDQFEIAETVSRTDSPSKIIKLDTVRVIAEKDKHALLDVTPSAIERLNYVQYYPIVVFFIPESRPALKALRQWLAPASRRSTRRLYAQAQKLRKHSSHLFTATIPLNGTSDTWYQELKAIIREQQTRPIWTAEDQLDGSLEDNLDLPHHGLADSSADLSCDSRVNSDYETDGEGGAYTDGEGYTDGEGGPYTDVDDEPPAPALARSSEPVQADESQSPRDRGRISAHQGAQVDSRHPQGQWRQDSMRTYEREALKKKFMRVHDAESSDEDGYDWGPATDL", "length": 919, "header": "sp|O95049-1|ZO3_HUMAN Isoform 1 of Tight junction protein ZO-3 OS=Homo sapiens OX=9606 GN=TJP3 PE=1 SV=3 CANONICAL=O95049-1" }, "locus": { "chromosome": "19", "start_pos": 3750681, "end_pos": 3728433, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541714.7", "url": "https://www.ensembl.org/id/ENST00000541714.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000439278.1", "url": "https://www.ensembl.org/id/ENSP00000439278.1" } ] } }, { "isoform_ac": "O95049-3", "url": "", "sequence": { "sequence": "MNLCGLMPIFPAPLDQVADMEELTIWEQHTATLSKDPRRGFGIAISGGRDRPGGSMVVSDVVPGGPAEGRLQTGDHIVMVNGVSMENATSAFAIQILKTCTKMANITVKRPRRIHLPATKASPSSPGRQDSDEDDGPQRVEEVDQGRGYDGDSSSGSGRSWDERSRRPRPGRRGRAGSHGRRSPGGGSEANGLALVSGFKRLPRQDVQMKPVKSVLVKRRDSEEFGVKLGSQIFIKHITDSGLAARHRGLQEGDLILQINGVSSQNLSLNDTRRLIEKSEGKLSLLVLRDRGQFLVNIPPAVSDSDSSPLEDISDLASELSQAPPSHIPPPPRHAQRSPEASQTDSPVESPRLRRESSVDSRTISEPDEQRSELPRESSYDIYRVPSSQSMEDRGYSPDTRVVRFLKGKSIGLRLAGGNDVGIFVSGVQAGSPADGQGIQEGDQILQVNDVPFQNLTREEAVQFLLGLPPGEEMELVTQRKQDIFWKMVQSRVGDSFYIRTHFELEPSPPSGLGFTRGDVFHVLDTLHPGPGQSHARGGHWLAVRMGRDLREQERGIIPNQSRAEQLASLEAAQRAVGVGPGSSAGSNARAEFWRLRGLRRGAKKTTQRSREDLSALTRQGRYPPYERVVLREASFKRPVVILGPVADIAMQKLTAEMPDQFEIAETVSRTDSPSKIIKLDTVRVIAEKDKHALLDVTPSAIERLNYVQYYPIVVFFIPESRPALKALRQWLAPASRRSTRRLYAQAQKLRKHSSHLFTATIPLNGTSDTWYQELKAIIREQQTRPIWTAEDQLDGSLEDNLDLPHHGLADSSADLSCDSRVNSDYETDGEGGAYTDGEGYTDGEGGPYTDVDDEPPAPALARSSEPVQADESQSPRDRGRISAHQGAQVDSRHPQGQWRQDSMRTYEREALKKKFMRVHDAESSDEDGYDWGPATDL", "length": 938, "header": "sp|O95049-3|ZO3_HUMAN Isoform 3 of Tight junction protein ZO-3 OS=Homo sapiens OX=9606 GN=TJP3 PE=1 SV=3 CANONICAL=O95049-1" }, "locus": { "chromosome": "19", "start_pos": 3750681, "end_pos": 3728376, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587686.1", "url": "https://www.ensembl.org/id/ENST00000587686.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467864.1", "url": "https://www.ensembl.org/id/ENSP00000467864.1" } ] } }, { "isoform_ac": "O95049-4", "url": "", "sequence": { "sequence": "MAVRFQVADMEELTIWEQHTATLSKDPRRGFGIAISGGRDRPGGSMVVSDVVPGGPAEGRLQTGDHIVMVNGVSMENATSAFAIQILKTCTKMANITVKRPRRIHLPATKASPSSPGRQDSDEDDGPQRVEEVDQGRGYDGDSSSGSGRSWDERSRRPRPGRRGRAGSHGRRSPGGGSEANGLALVSGFKRLPRQDVQMKPVKSVLVKRRDSEEFGVKLGSQIFIKHITDSGLAARHRGLQEGDLILQINGVSSQNLSLNDTRRLIEKSEGKLSLLVLRDRGQFLVNIPPAVSDSDSSPLEDISDLASELSQAPPSHIPPPPRHAQRSPEASQTDSPVESPRLRRESSVDSRTISEPDEQRSELPRESSYDIYRVPSSQSMEDRGYSPDTRVVRFLKGKSIGLRLAGGNDVGIFVSGVQAGSPADGQGIQEGDQILQVNDVPFQNLTREEAVQFLLGLPPGEEMELVTQRKQDIFWKMVQSRVGDSFYIRTHFELEPSPPSGLGFTRGDVFHVLDTLHPGPGQSHARGGHWLAVRMGRDLREQERGIIPNQSRAEQLASLEAAQRAVGVGPGSSAGSNARAEFWRLRGLRRGAKKTTQRSREDLSALTRQGRYPPYERVVLREASFKRPVVILGPVADIAMQKLTAEMPDQFEIAETVSRTDSPSKIIKLDTVRVIAEKDKHALLDVTPSAIERLNYVQYYPIVVFFIPESRPALKALRQWLAPASRRSTRRLYAQAQKLRKHSSHLFTATIPLNGTSDTWYQELKAIIREQQTRPIWTAEDQLDGSLEDNLDLPHHGLADSSADLSCDSRVNSDYETDGEGGAYTDGEGYTDGEGGPYTDVDDEPPAPALARSSEPVQADESQSPRDRGRISAHQGAQVDSRHPQGQWRQDSMRTYEREALKKKFMRVHDAESSDEDGYDWGPATDL", "length": 928, "header": "sp|O95049-4|ZO3_HUMAN Isoform 4 of Tight junction protein ZO-3 OS=Homo sapiens OX=9606 GN=TJP3 PE=1 SV=3 CANONICAL=O95049-1" }, "locus": { "chromosome": "19", "start_pos": 3750681, "end_pos": 3721893, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589378.5", "url": "https://www.ensembl.org/id/ENST00000589378.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465419.1", "url": "https://www.ensembl.org/id/ENSP00000465419.1" } ] } }, { "isoform_ac": "O95049-5", "url": "", "sequence": { "sequence": "MVVSDVVPGGPAEGRLQTGDHIVMVNGVSMENATSAFAIQILKTCTKMANITVKRPRRIHLPATKASPSSPGRQDSDEDDGPQRVEEVDQGRGYDGDSSSGSGRSWDERSRRPRPGRRGRAGSHGRRSPGGGSEANGLALVSGFKRLPRQDVQMKPVKSVLVKRRDSEEFGVKLGSQIFIKHITDSGLAARHRGLQEGDLILQINGVSSQNLSLNDTRRLIEKSEGKLSLLVLRDRGQFLVNIPPAVSDSDSSPLEDISDLASELSQAPPSHIPPPPRHAQRSPEASQTDSPVESPRLRRESSVDSRTISEPDEQRSELPRESSYDIYRVPSSQSMEDRGYSPDTRVVRFLKGKSIGLRLAGGNDVGIFVSGVQAGSPADGQGIQEGDQILQVNDVPFQNLTREEAVQFLLGLPPGEEMELVTQRKQDIFWKMVQSRVGDSFYIRTHFELEPSPPSGLGFTRGDVFHVLDTLHPGPGQSHARGGHWLAVRMGRDLREQERGIIPNQSRAEQLASLEAAQRAVGVGPGSSAGSNARAEFWRLRGLRRGAKKTTQRSREDLSALTRQGRYPPYERVVLREASFKRPVVILGPVADIAMQKLTAEMPDQFEIAETVSRTDSPSKIIKLDTVRVIAEKDKHALLDVTPSAIERLNYVQYYPIVVFFIPESRPALKALRQWLAPASRRSTRRLYAQAQKLRKHSSHLFTATIPLNGTSDTWYQELKAIIREQQTRPIWTAEDQLDGSLEDNLDLPHHGLADSSADLSCDSRVNSDYETDGEGGAYTDGEGYTDGEGGPYTDVDDEPPAPALARSSEPVQADESQSPRDRGRISAHQGAQVDSRHPQGQWRQDSMRTYEREALKKKFMRVHDAESSDEDGYDWGPATDL", "length": 883, "header": "sp|O95049-5|ZO3_HUMAN Isoform 5 of Tight junction protein ZO-3 OS=Homo sapiens OX=9606 GN=TJP3 PE=1 SV=3 CANONICAL=O95049-1" }, "locus": { "chromosome": "19", "start_pos": 3750681, "end_pos": 3728664, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539908.6", "url": "https://www.ensembl.org/id/ENST00000539908.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000439991.1", "url": "https://www.ensembl.org/id/ENSP00000439991.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 369, "start_aa": "Ser", "end_pos": 369, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser369", "evidence": [ { "id": "O95049", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95049" }, { "id": "30725225", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30725225" }, { "id": "28580691", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28580691" }, { "id": "O95049", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95049" } ] } ], "phosphorylation": [ { "start_pos": 112, "end_pos": 112, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Ser112" }, { "start_pos": 136, "end_pos": 136, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Ser136" }, { "start_pos": 164, "end_pos": 164, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "phospho.ELM", "id": "O95049", "url": "http://phospho.elm.eu.org/byAccession/O95049.html" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Ser164" }, { "start_pos": 169, "end_pos": 169, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "site_lbl": "Ser169" }, { "start_pos": 203, "end_pos": 203, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Ser203" }, { "start_pos": 319, "end_pos": 319, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Ser319" }, { "start_pos": 325, "end_pos": 325, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Thr325" }, { "start_pos": 327, "end_pos": 327, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Ser327" }, { "start_pos": 371, "end_pos": 371, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Ser371" }, { "start_pos": 591, "end_pos": 591, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Ser591" }, { "start_pos": 856, "end_pos": 856, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Ser856" }, { "start_pos": 905, "end_pos": 905, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Ser905" }, { "start_pos": 906, "end_pos": 906, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "site_lbl": "Ser906" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "PATJ connects and stabilizes apical and lateral components of tight junctions in human intestinal cells.", "journal": "Journal of cell science", "date": "2005", "authors": "Michel D, Arsanto JP, Massey-Harroche D, Beclin C, Wijnholds J, Le Bivic A", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "reference": [ { "type": "PubMed", "id": "16129888", "url": "https://glygen.org/publication/PubMed/16129888" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Characterization of the ubinuclein protein as a new member of the nuclear and adhesion complex components (NACos).", "journal": "Biol. Cell", "date": "2009", "authors": "Aho S, Lupo J, Coly PA, Sabine A, Castellazzi M, Morand P, Sergeant A, Manet E, Boyer V, Gruffat H", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "reference": [ { "type": "PubMed", "id": "18823282", "url": "https://glygen.org/publication/PubMed/18823282" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.", "journal": "BMC Immunol.", "date": "2009", "authors": "Voss M, Lettau M, Janssen O", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "reference": [ { "type": "PubMed", "id": "19807924", "url": "https://glygen.org/publication/PubMed/19807924" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Role of calcium signalling and phosphorylations in disruption of the epithelial junctions by Pseudomonas aeruginosa quorum sensing molecule.", "journal": "Eur. J. Cell Biol.", "date": "2010", "authors": "Vikstr\u00f6m Elena, Bui Lan, Konradsson Peter, Magnusson Karl-Eric", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "reference": [ { "type": "PubMed", "id": "20434232", "url": "https://glygen.org/publication/PubMed/20434232" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Tight function zonula occludens-3 regulates cyclin D1-dependent cell proliferation.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Capaldo CT, Koch S, Kwon M, Laur O, Parkos CA, Nusrat A", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "RefSeq", "id": "NP_001254489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489" } ], "reference": [ { "type": "PubMed", "id": "21411630", "url": "https://glygen.org/publication/PubMed/21411630" } ] }, { "title": "The Staphylococcus aureus alpha-toxin perturbs the barrier function in Caco-2 epithelial cell monolayers by altering junctional integrity.", "journal": "Infect. Immun.", "date": "2012", "authors": "Kwak Young-Keun, Vikstr\u00f6m Elena, Magnusson Karl-Eric, V\u00e9csey-Semj\u00e9n Beatrix, Colque-Navarro Patricia, M\u00f6llby Roland", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "reference": [ { "type": "PubMed", "id": "22354024", "url": "https://glygen.org/publication/PubMed/22354024" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Delineation of the key aspects in the regulation of epithelial monolayer formation.", "journal": "Mol. Cell. Biol.", "date": "2013", "authors": "Aschauer Lydia, Gruber Leonhard N, Pfaller Walter, Limonciel Alice, Athersuch Toby J, Cavill Rachel, Khan Abdulhameed, Gstraunthaler Gerhard, Grillari Johannes, Grillari Regina, Hewitt Philip, Leonard Martin O, Wilmes Anja, Jennings Paul", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "reference": [ { "type": "PubMed", "id": "23608536", "url": "https://glygen.org/publication/PubMed/23608536" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" }, { "database": "iPTMnet", "id": "O95049", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95049" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Curcumin prevents leptin-induced tight junction dysfunction in intestinal Caco-2 BBe cells.", "journal": "J. Nutr. Biochem.", "date": "2014", "authors": "Kim Choon Young, Kim Kee-Hong", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "reference": [ { "type": "PubMed", "id": "24314862", "url": "https://glygen.org/publication/PubMed/24314862" } ] }, { "title": "Peptide microarray analysis of the cross-talk between O-GlcNAcylation and tyrosine phosphorylation.", "journal": "FEBS letters", "date": "2017", "authors": "Shi J, Tomasic T, Sharif S, Brouwer AJ, Anderluh M, Ruijtenbeek R, Pieters RJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95049", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95049" }, { "database": "O-GlcNAc Atlas", "id": "O95049", "url": "https://oglcnac.org/atlas/detail/O95049" } ], "reference": [ { "type": "PubMed", "id": "28580691", "url": "https://glygen.org/publication/PubMed/28580691" } ] }, { "title": "Study of cross talk between phosphatases and OGA on a ZO-3-derived peptide.", "journal": "Amino acids", "date": "2019", "authors": "Sharif S, Shi J, Ruijtenbeek R, Pieters RJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95049", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95049" } ], "reference": [ { "type": "PubMed", "id": "30725225", "url": "https://glygen.org/publication/PubMed/30725225" } ] }, { "title": "Long noncoding RNA NEAT1 promotes ovarian cancer cell invasion and migration by interacting with miR1321 and regulating tight junction protein 3 expression.", "journal": "Molecular medicine reports", "date": "2020", "authors": "Luo M, Zhang L, Yang H, Luo K, Qing C", "evidence": [ { "database": "RefSeq", "id": "NP_001254489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489" } ], "reference": [ { "type": "PubMed", "id": "32945443", "url": "https://glygen.org/publication/PubMed/32945443" } ] }, { "title": "TJP3 promotes T cell immunity escape and chemoresistance in breast cancer: a comprehensive analysis of anoikis-based prognosis prediction and drug sensitivity stratification.", "journal": "Aging", "date": "2023-11-10", "authors": "Chaojun Liu, Pengping Li, Yanjun Li, Fangyuan Zhu, Yaning He, Yingbo Shao, Qi Chen, Hui Liu", "evidence": [ { "database": "RefSeq", "id": "NP_001254489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254489" } ], "reference": [ { "type": "PubMed", "id": "37950731", "url": "https://glygen.org/publication/PubMed/37950731" } ] } ], "pathway": [ { "id": "hsa:27134", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27134", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K8M3-1", "protein_name": "Tight junction protein 3", "gene_name": "Tjp3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAVRFQVADMEELTIWEQHTATLYKDPRRGFGIAVSGGHDRAGGPVVVSDVVPGGPAEGRLQTGDHIVMVNGVSVENVTSAFAIQILKTCTKTANITVKRPRRVQLPATKASPASGHQLSDQEEADHGRGYEGDSSSGSGRSWGERSRRSRAGRRVRMGSHGRRSSCGGSEANGLDLVSGYKRLPKQDVLMRPLKSVLVKRRNSEEFGVKLGSQIFIKHITESGLAARNRGLQEGDLILQINGVSSANLSLSDTRRLIEKSEGQLTLLVLRDSGQFLVNIPPAVSDSDSSLMEDISDLTSELSQAPPSHIPPPPLKSRRSPEDSQTDSPVETPQPQRRERSVDSRAIAEPESPGESRYDIYRVPSRQSLEDRGYSPDTRVVRFPKGVSIGLRLAGGNDVGIFVSGVQAGSPADGQGIQEGDEILQVNDMPFRNLTREEAVQFLLGLPAGEDVELVIQSKQDIFRKMVQSRVGDSFYIRTHFELEPSPPYGLGFTRGDVFHVVDTLYRGSGSGHGHSSHGGLWLAARMGRDLREQERGVIPNQSRAEQLASLEAAQRAAGLGPGASTGSNPRAEFWRLRGLRRGAKKTMTQRSREDLSALTRQGHYPPYERVVLREASFKRPVVILGPVADIAMKRLTTEVPEQFEIAESVSRTDSPSKIIKLDTVRVIAERDKHALLDVTPSAIERLNYVQYYPVVIFCAPESRSALKALREWLAPASRRSSRRLYAQAQKLQKHSGHLFTATIPLNGTSDSWYQEVKAVIQQQQARPIWTAEDQLNGSSEDLDLPGHGLAASSGDLSCDSRANSDYEDTDGEGTYTDREGEPQDFDEEAPPTALARSSEPVWVDDHQGLMGHGRIAAAEVQADSHYTPDQRRQDSMRTYKHEALRKKFTRARDIESSDEEGYDWGPATDL", "length": 911 }, "evidence": [ { "id": "O95049", "url": "https://omabrowser.org/oma/group/O95049/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9QXY1-1", "protein_name": "Tight junction protein ZO-3", "gene_name": "Tjp3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEELTIWEQHTATLYKDPRRGFGIAVSGGHDRASGSVVVSDVVPGSPAEGRLRTGDHIVMVNGVSVENVTSAFAIQILKTCTKTANVTVKRPRRVQLPATKASPASGHQLSDQEEADHGRGYEGDSSSGSGRSWGERSRRSRAGRRGRVGSHGRRSSGGGSEANGLDLVSGYKRLPKQDVLMRPLKSVLVKRRNSEEFGVKLGSQIFIKHITESGLAARNHGLQEGDLILQINGVSSANLSLSDTRRLIEKSEGELTLLVLRDSGQFLVNIPPAVSDSDSSLMEDISDLTSELSQAPPSHVPPPPLKGQRSPEDSQTDSPVETPQPRRRERSVNSRAIAEPESPGESRYDIYRVPSRQSLEDRGYSPDTRVVSFPKGASIGLRLAGGNDVGIFVSGVQAGSPADGQGIQEGDEILQVNGMPFRNLTREEAVQFLLGLPPGEDMELVTQSKTGHSLRRWSQSRVGDSFYIRTHFELEPSPPYGLGFTRGDVFHVVDTLYPGSGPGHGHSSHGGLWLAARMGRDLREQERGVIPNQSRAEQLASLEAAQRAAGVGPGASVGSNPRAEFWRLRSLRRGTKKASTQRSREDLSALTRQGHYPPYERVVLREASFKRPVVILGPVADIAMKKLTTEMPEEFEIAESMSRTDSPSKIIKLDTVRVIAERDKHALLDVTPSAIERLNYVQYYPIVIFCAPESRPALKALREWLAPASRRSSRRLYAQAQKLQKHSGHLFTATIPLHGTSDSWYQEVKAVIQQQQARPIWTAEDQLNSSSEDLDLTGHGLAASSGDLSCDSRTNSDYEDTDGEGAYTDREGGPQDVDEEVAPTALARSSEPVWVDDHQGLMGHGTTITDKWETQADSHYTQDQRRQDSMRTYKHEALRKKFTRARDVESSDDEGYDWGPATDL", "length": 905 }, "evidence": [ { "id": "45924498", "url": "http://www.informatics.jax.org/homology/45924498", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "protein localization to cell-cell junction", "id": "GO:0150105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150105", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" }, { "name": "establishment of endothelial intestinal barrier", "id": "GO:0090557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090557", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" }, { "name": "maintenance of blood-brain barrier", "id": "GO:0035633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035633", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" }, { "name": "positive regulation of blood-brain barrier permeability", "id": "GO:1905605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905605", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "O95049", "url": "https://www.uniprot.org/uniprot/O95049" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 247, "end_pos": 249, "annotation": "n_glycosylation_sequon" }, { "start_pos": 251, "end_pos": 253, "annotation": "n_glycosylation_sequon" }, { "start_pos": 436, "end_pos": 438, "annotation": "n_glycosylation_sequon" }, { "start_pos": 541, "end_pos": 543, "annotation": "n_glycosylation_sequon" }, { "start_pos": 68, "end_pos": 70, "annotation": "n_glycosylation_sequon" }, { "start_pos": 746, "end_pos": 748, "annotation": "n_glycosylation_sequon" }, { "start_pos": 86, "end_pos": 88, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 369 ], "snv_sites": [ 133, 280, 284, 287, 318, 323, 369, 594, 749, 792, 852 ], "glycation_sites": [], "phosphorylation_sites": [ 112, 136, 164, 169, 203, 319, 325, 327, 371, 591, 856, 905, 906 ], "sequon_annotation_sites": [ { "start_pos": 247, "end_pos": 249 }, { "start_pos": 251, "end_pos": 253 }, { "start_pos": 436, "end_pos": 438 }, { "start_pos": 541, "end_pos": 543 }, { "start_pos": 68, "end_pos": 70 }, { "start_pos": 746, "end_pos": 748 }, { "start_pos": 86, "end_pos": 88 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 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": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", 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