{ "uniprot_canonical_ac": "O15263-1", "uniprot_ac": "O15263", "uniprot_id": "DFB4A_HUMAN", "mass": { "chemical_mass": 7038.0, "monoisotopic_mass": 7038.0 }, "refseq": { "ac": "NP_001192195", "name": "beta-defensin 4B precursor", "summary": "Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Oct 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192195" }, "gene_names": [ { "name": "DEFB4A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15263", "id": "O15263" }, { "name": "DEFB4B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15263", "id": "O15263" }, { "name": "DEFB102", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15263", "id": "O15263" }, { "name": "DEFB2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15263", "id": "O15263" }, { "name": "DEFB4B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192195", "id": "NP_001192195" }, { "name": "DEFB4P", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192195", "id": "NP_001192195" }, { "name": "DEFB4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15263", "id": "O15263" } ], "protein_names": [ { "name": "Defensin beta 4A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15263" }, { "name": "BD-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15263" }, { "name": "Beta-defensin 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15263" }, { "name": "Defensin, beta 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15263" }, { "name": "SAP1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15263" }, { "name": "Skin-antimicrobial peptide 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15263" }, { "name": "beta-defensin 4B precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192195", "id": "NP_001192195" }, { "name": "defensin, beta 4, pseudogene; beta defensin 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192195", "id": "NP_001192195" }, { "name": "hBD-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15263" } ], "function": [ { "annotation": "DEFB4B expression is significantly downregulated in healthy palatal mucosa of smokers", "evidence": [ { "database": "RefSeq", "id": "NP_001192195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192195" }, { "database": "PubMed", "id": "31682009", "url": "https://glygen.org/publication/PubMed/31682009" } ] }, { "annotation": "Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Oct 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001192195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192195" } ] }, { "annotation": "Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria, with highest activity against Gram-negative bacteria (PubMed:9202117, PubMed:10837369). Antimicrobial activity against P.aruginosa seems to be salt-sensitive and is reduced with high salt concentrations greater than 25 mM (PubMed:10837369). Also exhibits antimicrobial activity against the yeast C.albicans (PubMed:9202117, PubMed:10837369, PubMed:30050988). Permeabilizes C.albicans cell membranes via targeting plasma membrane lipid phosphatidylinositol 4,5-bisphosphate (PIP2), thereby leading to cell fragmentation and cell death (PubMed:30050988). Acts as a ligand for C-C chemokine receptor CCR6 (PubMed:10521347, PubMed:20068036). Binds to CCR6 and induces chemotactic activity of CCR6-expressing cells, such as immature dendritic cells and memory T cells (PubMed:10521347, PubMed:20068036).", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263#function" }, { "database": "PubMed", "id": "10837369", "url": "https://glygen.org/publication/PubMed/10837369" }, { "database": "PubMed", "id": "9202117", "url": "https://glygen.org/publication/PubMed/9202117" }, { "database": "PubMed", "id": "20068036", "url": "https://glygen.org/publication/PubMed/20068036" }, { "database": "PubMed", "id": "10521347", "url": "https://glygen.org/publication/PubMed/10521347" }, { "database": "PubMed", "id": "30050988", "url": "https://glygen.org/publication/PubMed/30050988" } ] }, { "annotation": "Human beta-Defensin 2 Mutations Are Associated With Asthma and Atopy in Children and Its Application Prevents Atopic Asthma in a Mouse Model. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001192195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192195" }, { "database": "PubMed", "id": "33717182", "url": "https://glygen.org/publication/PubMed/33717182" } ] }, { "annotation": "The encoded peptide has antimicrobial activity against E.coli, S. aureus, and P. aeruginosa.", "evidence": [ { "database": "RefSeq", "id": "NP_001192195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192195" }, { "database": "PubMed", "id": "9727055", "url": "https://glygen.org/publication/PubMed/9727055" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 33, "end_pos": 33, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of PIP2 binding and loss of liposomal lysis activity. Decrease in fungal cell permeabilization. Impaired antifungal activity.", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" }, { "database": "PubMed", "id": "30050988", "url": "https://glygen.org/publication/PubMed/30050988" } ] }, { "start_pos": 45, "end_pos": 45, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of PIP2 binding and loss of liposomal lysis activity. Decrease in fungal cell permeabilization. Impaired antifungal activity.", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" }, { "database": "PubMed", "id": "30050988", "url": "https://glygen.org/publication/PubMed/30050988" } ] }, { "start_pos": 46, "end_pos": 46, "sequence_org": "R", "sequence_mut": "A", "comment": "No impact on fungal cell permeabilization. Impaired antifungal activity.", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" }, { "database": "PubMed", "id": "30050988", "url": "https://glygen.org/publication/PubMed/30050988" } ] }, { "start_pos": 47, "end_pos": 47, "sequence_org": "Y", "sequence_mut": "A", "comment": "No impact on fungal cell permeabilization. No impact on antifungal activity.", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" }, { "database": "PubMed", "id": "30050988", "url": "https://glygen.org/publication/PubMed/30050988" } ] }, { "start_pos": 48, "end_pos": 48, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of PIP2 binding and reduced liposomal lysis activity. Impaired antifungal activity. Decrease in fungal cell permeabilization.", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" }, { "database": "PubMed", "id": "30050988", "url": "https://glygen.org/publication/PubMed/30050988" } ] }, { "start_pos": 59, "end_pos": 59, "sequence_org": "K", "sequence_mut": "A", "comment": "No impact on PIP binding and liposomal lysis activity. Lack of antifungal activity. Lack of fungal cell permeabilization.", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" }, { "database": "PubMed", "id": "30050988", "url": "https://glygen.org/publication/PubMed/30050988" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "18.51", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "18.51", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "66.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "16.34", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "17.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "16.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "16.88", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "17.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "14.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "19.03", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000171711", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171711" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15263", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15263" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15263", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15263" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15263", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15263" } ], "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": 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"Protein" ] } ], "sequence": { "sequence": "MRVLYLLFSFLFIFLMPLPGVFGGIGDPVTCLKSGAICHPVFCPRRYKQIGTCGLPGTKCCKKP", "length": 64, "header": "sp|O15263-1|DFB4A_HUMAN Isoform 1 of Defensin beta 4A OS=Homo sapiens OX=9606 GN=DEFB4B PE=1 SV=1 CANONICAL=O15263-1" }, "isoforms": [ { "isoform_ac": "O15263-1", "url": "", "sequence": { "sequence": "MRVLYLLFSFLFIFLMPLPGVFGGIGDPVTCLKSGAICHPVFCPRRYKQIGTCGLPGTKCCKKP", "length": 64, "header": "sp|O15263-1|DFB4A_HUMAN Isoform 1 of Defensin beta 4A OS=Homo sapiens OX=9606 GN=DEFB4B PE=1 SV=1 CANONICAL=O15263-1" }, "locus": { "chromosome": "8", "start_pos": 7896607, "end_pos": 7894713, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000302247.3", "url": "https://www.ensembl.org/id/ENST00000302247.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000303532.2", "url": "https://www.ensembl.org/id/ENSP00000303532.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Beta-defensins: linking innate and adaptive immunity through dendritic and T cell CCR6.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Yang D, Chertov O, Bykovskaia SN, Chen Q, Buffo MJ, Shogan J, Anderson M, Schroder JM, Wang JM, Howard OM, Oppenheim JJ", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" }, { "database": "Reactome", "id": "R-HSA-1461957", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461957" } ], "reference": [ { "type": "PubMed", "id": "10521347", "url": "https://glygen.org/publication/PubMed/10521347" } ] }, { "title": "Transcriptional regulation of beta-defensin gene expression in tracheal epithelial cells.", "journal": "Infect. Immun.", "date": "2000", "authors": "Diamond G, Kaiser V, Rhodes J, Russell J P, Bevins C L", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" } ], "reference": [ { "type": "PubMed", "id": "10603376", "url": "https://glygen.org/publication/PubMed/10603376" } ] }, { "title": "Mucoid Pseudomonas aeruginosa, TNF-alpha, and IL-1beta, but not IL-6, induce human beta-defensin-2 in respiratory epithelia.", "journal": "American journal of respiratory cell and molecular biology", "date": "2000-06", "authors": "Harder J, Meyer-Hoffert U, Teran L M, Schwichtenberg L, Bartels J, Maune S, Schr\u00f6der J M", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" } ], "reference": [ { "type": "PubMed", "id": "10837369", "url": "https://glygen.org/publication/PubMed/10837369" } ] }, { "title": "The structure of human beta-defensin-2 shows evidence of higher order oligomerization.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Hoover D M, Rajashankar K R, Blumenthal R, Puri A, Oppenheim J J, Chertov O, Lubkowski J", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" } ], "reference": [ { "type": "PubMed", "id": "10906336", "url": "https://glygen.org/publication/PubMed/10906336" } ] }, { "title": "Human neutrophil defensins selectively chemoattract naive T and immature dendritic cells.", "journal": "Journal of leukocyte biology", "date": "2000", "authors": "Yang D, Chen Q, Chertov O, Oppenheim JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1461957", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461957" } ], "reference": [ { "type": "PubMed", "id": "10914484", "url": "https://glygen.org/publication/PubMed/10914484" } ] }, { "title": "Isolation and characterization of human beta -defensin-3, a novel human inducible peptide antibiotic.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Harder J, Bartels J, Christophers E, Schroder JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1461957", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461957" } ], "reference": [ { "type": "PubMed", "id": "11085990", "url": "https://glygen.org/publication/PubMed/11085990" } ] }, { "title": "The NMR structure of human beta-defensin-2 reveals a novel alpha-helical segment.", "journal": "Biochemistry", "date": "2001", "authors": "Sawai M V, Jia H P, Liu L, Aseyev V, Wiencek J M, McCray P B, Ganz T, Kearney W R, Tack B F", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" } ], "reference": [ { "type": "PubMed", "id": "11300761", "url": "https://glygen.org/publication/PubMed/11300761" } ] }, { "title": "Identification of a novel, multifunctional beta-defensin (human beta-defensin 3) with specific antimicrobial activity. Its interaction with plasma membranes of Xenopus oocytes and the induction of macrophage chemoattraction.", "journal": "Cell and tissue research", "date": "2001", "authors": "Garcia JR, Jaumann F, Schulz S, Krause A, Rodriguez-Jimenez J, Forssmann U, Adermann K, Kluver E, Vogelmeier C, Becker D, Hedrich R, Forssmann WG, Bals R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1461957", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461957" } ], "reference": [ { "type": "PubMed", "id": "11702237", "url": "https://glygen.org/publication/PubMed/11702237" } ] }, { "title": "Structure determination of human and murine beta-defensins reveals structural conservation in the absence of significant sequence similarity.", "journal": "Protein Sci.", "date": "2001", "authors": "Bauer F, Schweimer K, Kl\u00fcver E, Conejo-Garcia J R, Forssmann W G, R\u00f6sch P, Adermann K, Sticht H", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" } ], "reference": [ { "type": "PubMed", "id": "11714914", "url": "https://glygen.org/publication/PubMed/11714914" } ] }, { "title": "Epithelial cell-derived human beta-defensin-2 acts as a chemotaxin for mast cells through a pertussis toxin-sensitive and phospholipase C-dependent pathway.", "journal": "International immunology", "date": "2002", "authors": "Niyonsaba F, Iwabuchi K, Matsuda H, Ogawa H, Nagaoka I", "evidence": [ { "database": "Reactome", "id": "R-HSA-1461957", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461957" } ], "reference": [ { "type": "PubMed", "id": "11934878", "url": "https://glygen.org/publication/PubMed/11934878" } ] }, { "title": "Chemical synthesis of beta-defensins and LEAP-1/hepcidin.", "journal": "J. Pept. Res.", "date": "2002", "authors": "Kluver E, Schulz A, Forssmann WG, Adermann K", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" } ], "reference": [ { "type": "PubMed", "id": "12010514", "url": "https://glygen.org/publication/PubMed/12010514" } ] }, { "title": "Defensins: antimicrobial peptides of innate immunity.", "journal": "Nature reviews. Immunology", "date": "2003", "authors": "Ganz T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1461973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461973" } ], "reference": [ { "type": "PubMed", "id": "12949495", "url": "https://glygen.org/publication/PubMed/12949495" } ] }, { "title": "Human -defensin-3 activates professional antigen-presenting cells via Toll-like receptors 1 and 2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Funderburg N, Lederman MM, Feng Z, Drage MG, Jadlowsky J, Harding CV, Weinberg A, Sieg SF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1461957", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461957" } ], "reference": [ { "type": "PubMed", "id": "18006661", "url": "https://glygen.org/publication/PubMed/18006661" } ] }, { "title": "Specific binding and chemotactic activity of mBD4 and its functional orthologue hBD2 to CCR6-expressing cells.", "journal": "The Journal of biological chemistry", "date": "2010-03-05", "authors": "R\u00f6hrl Johann, Yang De, Oppenheim Joost J, Hehlgans Thomas", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" } ], "reference": [ { "type": "PubMed", "id": "20068036", "url": "https://glygen.org/publication/PubMed/20068036" } ] }, { "title": "Functional interaction of human neutrophil peptide-1 with the cell wall precursor lipid II.", "journal": "FEBS letters", "date": "2010", "authors": "de Leeuw E, Li C, Zeng P, Li C, Diepeveen-de Buin M, Lu WY, Breukink E, Lu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-1461973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461973" } ], "reference": [ { "type": "PubMed", "id": "20214904", "url": "https://glygen.org/publication/PubMed/20214904" } ] }, { "title": "Human beta-defensin 3 inhibits cell wall biosynthesis in Staphylococci.", "journal": "Infection and immunity", "date": "2010", "authors": "Sass V, Schneider T, Wilmes M, Korner C, Tossi A, Novikova N, Shamova O, Sahl HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1461973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461973" } ], "reference": [ { "type": "PubMed", "id": "20385753", "url": "https://glygen.org/publication/PubMed/20385753" } ] }, { "title": "Human beta-defensin 2 and 3 and their mouse orthologs induce chemotaxis through interaction with CCR2.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Rohrl J, Yang D, Oppenheim JJ, Hehlgans T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1461957", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461957" } ], "reference": [ { "type": "PubMed", "id": "20483750", "url": "https://glygen.org/publication/PubMed/20483750" } ] }, { "title": "Tissue-specific human beta-defensins (HBD)1, HBD2, and HBD3 secretion from human extra-placental membranes stimulated with Escherichia coli.", "journal": "Reproductive biology and endocrinology : RB&E", "date": "2010", "authors": "Garcia-Lopez G, Flores-Espinosa P, Zaga-Clavellina V", "evidence": [ { "database": "Reactome", "id": "R-HSA-1461957", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1461957" } ], "reference": [ { "type": "PubMed", "id": "21122132", "url": "https://glygen.org/publication/PubMed/21122132" } ] }, { "title": "Human beta-defensin 2 kills Candida albicans through phosphatidylinositol 4,5-bisphosphate-mediated membrane permeabilization.", "journal": "Science advances", "date": "2018", "authors": "Jarva M, Phan TK, Lay FT, Caria S, Kvansakul M, Hulett MD", "evidence": [ { "database": "UniProtKB", "id": "O15263", "url": "https://www.uniprot.org/uniprot/O15263" } ], "reference": [ { "type": "PubMed", "id": "30050988", "url": "https://glygen.org/publication/PubMed/30050988" } ] }, { "title": "Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.", "journal": "Journal of periodontology", "date": "2020", "authors": "Wang Y, Anderson EP, Tatakis DN", "evidence": [ { "database": "RefSeq", "id": "NP_001192195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192195" } ], "reference": [ { "type": "PubMed", "id": "31682009", "url": "https://glygen.org/publication/PubMed/31682009" } ] }, { "title": "Human beta-Defensin 2 Mutations Are Associated With Asthma and Atopy in Children and Its Application Prevents Atopic Asthma in a Mouse Model.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Borchers NS, Santos-Valente E, Toncheva AA, Wehkamp J, Franke A, Gaertner VD, Nordkild P, Genuneit J, Jensen BAH, Kabesch M", "evidence": [ { "database": "RefSeq", "id": "NP_001192195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192195" } ], "reference": [ { "type": "PubMed", "id": "33717182", "url": "https://glygen.org/publication/PubMed/33717182" } ] }, { "title": "A peptide antibiotic from human skin.", 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