{ "uniprot_canonical_ac": "O14493-1", "uniprot_ac": "O14493", "uniprot_id": "CLD4_HUMAN", "mass": { "chemical_mass": 22077.0, "monoisotopic_mass": 22077.0 }, "refseq": { "ac": "NP_001296", "name": "claudin-4", "summary": "The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" }, "gene_names": [ { "name": "CLDN4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14493", "id": "O14493" }, { "name": "CLDN4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296", "id": "NP_001296" }, { "name": "CPE-R; CPER; CPETR; CPETR1; hCPE-R; WBSCR8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296", "id": "NP_001296" }, { "name": "CPER", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14493", "id": "O14493" }, { "name": "CPETR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14493", "id": "O14493" }, { "name": "WBSCR8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14493", "id": "O14493" } ], "protein_names": [ { "name": "Claudin-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14493" }, { "name": "CPE-R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14493" }, { "name": "CPE-receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14493" }, { "name": "Clostridium perfringens enterotoxin receptor 1; Williams-Beuren syndrome chromosomal region 8 protein; CPE-receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296", "id": "NP_001296" }, { "name": "Clostridium perfringens enterotoxin receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14493" }, { "name": "Williams-Beuren syndrome chromosomal region 8 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14493" }, { "name": "claudin-4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296", "id": "NP_001296" } ], "function": [ { "annotation": "CLDN4 as a Novel Diagnostic and Prognostic Biomarker and Its Association with Immune Infiltrates in Ovarian Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" }, { "database": "PubMed", "id": "37057131", "url": "https://glygen.org/publication/PubMed/37057131" } ] }, { "annotation": "CLDN4 promotes growth of acute myeloid leukemia cells via regulating AKT and ERK1/2 signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_001296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" }, { "database": "PubMed", "id": "35760010", "url": "https://glygen.org/publication/PubMed/35760010" } ] }, { "annotation": "Channel-forming tight junction protein that mediates paracellular chloride transport in the kidney. Plays a critical role in the paracellular reabsorption of filtered chloride in the kidney collecting ducts. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493#function" }, { "database": "UniProtKB", "id": "O35054", "url": "https://www.uniprot.org/uniprot/O35054#function" } ] }, { "annotation": "Computational study of ion permeation through claudin-4 paracellular channels.", "evidence": [ { "database": "RefSeq", "id": "NP_001296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" }, { "database": "PubMed", "id": "35811406", "url": "https://glygen.org/publication/PubMed/35811406" } ] }, { "annotation": "Diagnostic Utility of Claudin4 and Comparison with BerEp4 as a Marker for Metastatic Adenocarcinoma in Serous Effusions.", "evidence": [ { "database": "RefSeq", "id": "NP_001296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" }, { "database": "PubMed", "id": "37331346", "url": "https://glygen.org/publication/PubMed/37331346" } ] }, { "annotation": "The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" } ] }, { "annotation": "[Effects of Fusobacterium nucleus derived outer membrane vesicles on claudin-4 expression in oral epithelial cells].", "evidence": [ { "database": "RefSeq", "id": "NP_001296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" }, { "database": "PubMed", "id": "37153991", "url": "https://glygen.org/publication/PubMed/37153991" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 208, "end_pos": 208, "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of phosphorylation by EPHA2.", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493" }, { "database": "PubMed", "id": "16236711", "url": "https://glygen.org/publication/PubMed/16236711" } ] }, { "start_pos": 35, "end_pos": 35, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreases interaction with Clostridium perfringens CPE.", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493" }, { "database": "PubMed", "id": "27647526", "url": "https://glygen.org/publication/PubMed/27647526" } ] }, { "start_pos": 35, "end_pos": 35, "sequence_org": "F", "sequence_mut": "D", "comment": "Abolishes interaction with Clostridium perfringens CPE.", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493" }, { "database": "PubMed", "id": "27647526", "url": "https://glygen.org/publication/PubMed/27647526" } ] }, { "start_pos": 40, "end_pos": 40, "sequence_org": "I", "sequence_mut": "A", "comment": "No effect on interaction with Clostridium perfringens CPE.", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493" }, { "database": "PubMed", "id": "27647526", "url": "https://glygen.org/publication/PubMed/27647526" } ] }, { "start_pos": 40, "end_pos": 40, "sequence_org": "I", "sequence_mut": "D", "comment": "Strongly decreases interaction with Clostridium perfringens CPE.", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493" }, { "database": "PubMed", "id": "27647526", "url": "https://glygen.org/publication/PubMed/27647526" } ] }, { "start_pos": 53, "end_pos": 53, "sequence_org": "N", "sequence_mut": "A", "comment": "Decreases interaction with Clostridium perfringens CPE.", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493" }, { "database": "PubMed", "id": "27647526", "url": "https://glygen.org/publication/PubMed/27647526" } ] }, { "start_pos": 53, "end_pos": 53, "sequence_org": "N", "sequence_mut": "D", "comment": "Decreases interaction with Clostridium perfringens CPE.", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493" }, { "database": "PubMed", "id": "27647526", "url": "https://glygen.org/publication/PubMed/27647526" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "67.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "67.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "76.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "77.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "69.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "64.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000189143", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000189143" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14493" } ], "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": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO: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": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO: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 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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, 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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": "O14493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14493" } ], "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": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14493" } ], "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 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"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", "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", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O14493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14493" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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F, Butz S, Zander K, Meyer zu Brickwedde MK, Suzuki A, Imhof BA, Vestweber D", "evidence": [ { "database": "Reactome", "id": "R-HSA-420029", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420029" } ], "reference": [ { "type": "PubMed", "id": "12953056", "url": "https://glygen.org/publication/PubMed/12953056" } ] }, { "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": "Reactome", "id": "R-HSA-420029", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420029" } ], "reference": [ { "type": "PubMed", "id": "16129888", "url": "https://glygen.org/publication/PubMed/16129888" } ] }, { "title": "EphA2 phosphorylates the cytoplasmic tail of Claudin-4 and mediates paracellular permeability.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Tanaka M, Kamata R, Sakai R", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493" }, { "database": "iPTMnet", "id": "O14493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14493" } ], "reference": [ { "type": "PubMed", "id": "16236711", "url": "https://glygen.org/publication/PubMed/16236711" } ] }, { "title": "Phosphorylation of claudin-4 by PKCepsilon regulates tight junction barrier function in ovarian cancer cells.", "journal": "Experimental cell research", "date": "2007", "authors": "D'Souza T, Indig FE, Morin PJ", "evidence": [ { "database": "iPTMnet", "id": "O14493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14493" } ], "reference": [ { "type": "PubMed", "id": "17678893", "url": "https://glygen.org/publication/PubMed/17678893" } ] }, { "title": "Claudin association with CD81 defines hepatitis C virus entry.", "journal": "J. Biol. Chem.", "date": "2010", "authors": "Harris HJ, Davis C, Mullins JG, Hu K, Goodall M, Farquhar MJ, Mee CJ, McCaffrey K, Young S, Drummer H, Balfe P, McKeating JA", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493" } ], "reference": [ { "type": "PubMed", "id": "20375010", "url": "https://glygen.org/publication/PubMed/20375010" } ] }, { "title": "Claudin-18 deficiency results in alveolar barrier dysfunction and impaired alveologenesis in mice.", "journal": "Am. J. Respir. Cell Mol. Biol.", "date": "2014", "authors": "LaFemina Michael J, Sutherland Katherine M, Bentley Trevor, Gonzales Linda W, Allen Lennell, Chapin Cheryl J, Rokkam Deepti, Sweerus Kelly A, Dobbs Leland G, Ballard Philip L, Frank James A", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493" } ], "reference": [ { "type": "PubMed", "id": "24787463", "url": "https://glygen.org/publication/PubMed/24787463" } ] }, { "title": "Structural basis for disruption of claudin assembly in tight junctions by an enterotoxin.", "journal": "Scientific reports", "date": "2016", "authors": "Shinoda T, Shinya N, Ito K, Ohsawa N, Terada T, Hirata K, Kawano Y, Yamamoto M, Kimura-Someya T, Yokoyama S, Shirouzu M", "evidence": [ { "database": "UniProtKB", "id": "O14493", "url": "https://www.uniprot.org/uniprot/O14493" } ], "reference": [ { "type": "PubMed", "id": "27647526", "url": "https://glygen.org/publication/PubMed/27647526" } ] }, { "title": "Role of Nuclear Claudin-4 in Renal Cell Carcinoma.", "journal": "International journal of molecular sciences", "date": "2020", "authors": "Owari T, Sasaki T, Fujii K, Fujiwara-Tani R, Kishi S, Mori S, Mori T, Goto K, Kawahara I, Nakai Y, Miyake M, Luo Y, Tanaka N, Kondoh M, Fujimoto K, Kuniyasu H", "evidence": [ { "database": "iPTMnet", "id": "O14493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14493" } ], "reference": [ { "type": "PubMed", "id": "33172177", "url": "https://glygen.org/publication/PubMed/33172177" } ] }, { "title": "CLDN4 promotes growth of acute myeloid leukemia cells via regulating AKT and ERK1/2 signaling.", "journal": "Biochemical and biophysical research communications", "date": "2022", "authors": "Hao S, Yang C, Song P, Shi H, Zou Y, Chen M, Wu X, Yin Y, Yu Z, Zhu W, Li M", "evidence": [ { "database": "RefSeq", "id": "NP_001296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" } ], "reference": [ { "type": "PubMed", "id": "35760010", "url": "https://glygen.org/publication/PubMed/35760010" } ] }, { "title": "Computational study of ion permeation through claudin-4 paracellular channels.", "journal": "Annals of the New York Academy of Sciences", "date": "2022-10", "authors": "Berselli Alessandro, Alberini Giulio, Benfenati Fabio, Maragliano Luca", "evidence": [ { "database": "RefSeq", "id": "NP_001296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" } ], "reference": [ { "type": "PubMed", "id": "35811406", "url": "https://glygen.org/publication/PubMed/35811406" } ] }, { "title": "CLDN4 as a Novel Diagnostic and Prognostic Biomarker and Its Association with Immune Infiltrates in Ovarian Cancer.", "journal": "Mediators of inflammation", "date": "2023", "authors": "Hu Pan, Lei Li, Wang Ying, Tian Xue, Wei Xia, Jiang Ni, Liu Lubin", "evidence": [ { "database": "RefSeq", "id": "NP_001296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" } ], "reference": [ { "type": "PubMed", "id": "37057131", "url": "https://glygen.org/publication/PubMed/37057131" } ] }, { "title": "[Effects of Fusobacterium nucleus derived outer membrane vesicles on claudin-4 expression in oral epithelial cells].", "journal": "Shanghai kou qiang yi xue = Shanghai journal of stomatology", "date": "2023-04", "authors": "Yang Cheng-Long, Yang Meng, Wang Yu-Feng, Song Chen-Cheng, DU Guan-Huan, Tang Guo-Yao", "evidence": [ { "database": "RefSeq", "id": "NP_001296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" } ], "reference": [ { "type": "PubMed", "id": "37153991", "url": "https://glygen.org/publication/PubMed/37153991" } ] }, { "title": "Diagnostic utility of Claudin4 and comparison with BerEp4 as a marker for metastatic adenocarcinoma in serous effusions.", "journal": "Acta cytologica", "date": "2023-06-16", "authors": "Mangla Gunjan, Bakshi Pooja, Agarwal Poojan, Verma Kusum", "evidence": [ { "database": "RefSeq", "id": "NP_001296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001296" } ], "reference": [ { "type": "PubMed", "id": "37331346", "url": "https://glygen.org/publication/PubMed/37331346" } ] }, { "title": "Clostridium perfringens enterotoxin utilizes two structurally related membrane proteins as functional receptors in vivo.", "journal": "J. 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