{ "uniprot_canonical_ac": "P12838-1", "uniprot_ac": "P12838", "uniprot_id": "DEF4_HUMAN", "mass": { "chemical_mass": 10504.0, "monoisotopic_mass": 10504.0 }, "refseq": { "ac": "NP_001916", "name": "defensin alpha 4 preproprotein", "summary": "Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" }, "gene_names": [ { "name": "DEFA4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12838", "id": "P12838" }, { "name": "DEF4; HNP-4; HP-4; HP4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916", "id": "NP_001916" }, { "name": "DEF4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12838", "id": "P12838" }, { "name": "DEFA4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916", "id": "NP_001916" } ], "protein_names": [ { "name": "Defensin alpha 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12838" }, { "name": "Corticostatin HP-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12838" }, { "name": "HNP-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12838" }, { "name": "HP-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12838" }, { "name": "Neutrophil defensin 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12838" }, { "name": "corticostatin; neutrophil defensin 4; defensin, alpha 4, preproprotein; defensin, alpha 4, corticostatin; corticostatin HP-4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916", "id": "NP_001916" }, { "name": "defensin alpha 4 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916", "id": "NP_001916" } ], "function": [ { "annotation": "DEFA1-3 and DEFA4 mRNA level in peripheral blood cells can be used to identify chronic myeloid leukaemia patients who are at risk of being imatinib-resistant, before initiation of the therapy.", "evidence": [ { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" }, { "database": "PubMed", "id": "21734341", "url": "https://glygen.org/publication/PubMed/21734341" } ] }, { "annotation": "DEFA4 displays antimicrobial activity against E. coli, S. faecalis, and C. albicans.", "evidence": [ { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" }, { "database": "PubMed", "id": "2500436", "url": "https://glygen.org/publication/PubMed/2500436" } ] }, { "annotation": "Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" } ] }, { "annotation": "Findings unveil the molecular determinants of HNP4 function, completing the atlas of structure and function relationships for all human neutrophil alpha-defensins.", "evidence": [ { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "annotation": "Host-defense peptide that has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi (PubMed:2500436, PubMed:2501794, PubMed:15317502, PubMed:15616305, PubMed:30658057). Exhibits antimicrobial activity against Gram-negative E.coli and E.aerogenes and Gram-positive S.faecalis, S.aureus and B.cereus and the yeast C.albicans (in vitro) (PubMed:2500436, PubMed:2501794, PubMed:15317502, PubMed:15616305, PubMed:17088326, PubMed:30658057). Interacts with pathogenic surface proteins and toxins, such as HIV-1 surface protein gp120 and B.anthracis anthrax lethal factor lef (PubMed:15620707, PubMed:30658057). Protects blood cells against infection with HIV-1 (in vitro) (PubMed:15620707). Inhibits enzymatic activity of B.anthracis lef/anthrax lethal factor (in vitro) (PubMed:30658057). Inhibits corticotropin (ACTH)-stimulated corticosterone production (in vitro) (PubMed:2843187).", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838#function" }, { "database": "PubMed", "id": "17088326", "url": "https://glygen.org/publication/PubMed/17088326" }, { "database": "PubMed", "id": "15620707", "url": "https://glygen.org/publication/PubMed/15620707" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" }, { "database": "PubMed", "id": "2500436", "url": "https://glygen.org/publication/PubMed/2500436" }, { "database": "PubMed", "id": "2501794", "url": "https://glygen.org/publication/PubMed/2501794" }, { "database": "PubMed", "id": "15317502", "url": "https://glygen.org/publication/PubMed/15317502" }, { "database": "PubMed", "id": "15616305", "url": "https://glygen.org/publication/PubMed/15616305" }, { "database": "PubMed", "id": "2843187", "url": "https://glygen.org/publication/PubMed/2843187" } ] }, { "annotation": "Results indicate that the gene expression of DEFA 1/3 and 4 was significantly increased in all tumours - except for a significant decrease of DEFA 4 gene expression in pleomorphic adenomas. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" }, { "database": "PubMed", "id": "23050799", "url": "https://glygen.org/publication/PubMed/23050799" } ] }, { "annotation": "The combination of an increased expression of the antimicrobial peptide DEFA-4, the oncogene S100-A7, epidermal growth factor, and tenascin-c, and a decreased Doc-1 expression in oral leukoplakia might characterize its potency of malignant transformation.", "evidence": [ { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" }, { "database": "PubMed", "id": "20727496", "url": "https://glygen.org/publication/PubMed/20727496" } ] }, { "annotation": "Three AMP genes, histatin 3 (HTN3), alpha-defensin 4 (DEFA4) and lysozyme C (LYZ), presented different expression levels in periodontitis patients compared with healthy subjects. The relative expression level of DEFA4 appeared to be a protective factor against periodontitis.", "evidence": [ { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" }, { "database": "PubMed", "id": "29446150", "url": "https://glygen.org/publication/PubMed/29446150" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 65, "end_pos": 65, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-67, Ala-72, Ala-82, Ala-92 and Ala-93.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 67, "end_pos": 67, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-65, Ala-72, Ala-82, Ala-92 and Ala-93.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 69, "end_pos": 69, "sequence_org": "L", "sequence_mut": "A", "comment": "Slight decrease in antibacterial activity against E.coli.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 71, "end_pos": 71, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreased antibacterial activity against S.aureus.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 72, "end_pos": 72, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-65, Ala-67, Ala-82, Ala-92 and Ala-93.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 73, "end_pos": 73, "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased antibacterial activity against E.coli. Weakens interaction with B.anthracis lef and with HIV-1 gp120.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 74, "end_pos": 74, "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased antibacterial activity against E.coli. Weakens interaction with B.anthracis lef and with HIV-1 gp120.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 78, "end_pos": 78, "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased antibacterial activity against E.coli and S.aureus. Weakens interaction with B.anthracis lef and with HIV-1 gp120.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 82, "end_pos": 82, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-65, Ala-67, Ala-72, Ala-92 and Ala-93.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 89, "end_pos": 89, "sequence_org": "F", "sequence_mut": "A", "comment": "Impaired homodimerization. Decreased antibacterial activity against S.aureus. Disrupts interaction with B.anthracis lef and with HIV-1 gp120.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 91, "end_pos": 91, "sequence_org": "Y", "sequence_mut": "A", "comment": "Slight decrease in antibacterial activity against E.coli and S.aureus.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 92, "end_pos": 92, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-65, Ala-67, Ala-72, Ala-82 and Ala-93.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 93, "end_pos": 93, "sequence_org": "C", "sequence_mut": "A", "comment": "Impairs bactericidal activity against E.coli and S.aureus; when associated with Ala-65, Ala-67, Ala-72, Ala-82 and Ala-92.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "start_pos": 95, "end_pos": 95, "sequence_org": "R", "sequence_mut": "A", "comment": "Slight decrease in antibacterial activity against E.coli and S.aureus.", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "59.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "41.21", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "46.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "49.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "33.81", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "42.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164821" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12838", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12838" } ], "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 mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO: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": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12838", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12838" } ], "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": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P12838", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12838" } ], "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P12838", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12838" } ], "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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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": "Defensins: endogenous antibiotic peptides from human leukocytes.", "journal": "Ciba Foundation symposium", "date": "1992", "authors": "Lehrer RI, Ganz T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "1302183", "url": "https://glygen.org/publication/PubMed/1302183" } ] }, { "title": "Posttranslational processing of defensins in immature human myeloid cells.", "journal": "Blood", "date": "1992", "authors": "Valore EV, Ganz T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "1339298", "url": "https://glygen.org/publication/PubMed/1339298" } ] }, { "title": "NMR studies of defensin antimicrobial peptides. 1. Resonance assignment and secondary structure determination of rabbit NP-2 and human HNP-1.", "journal": "Biochemistry", "date": "1992", "authors": "Zhang XL, Selsted ME, Pardi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "1445872", "url": "https://glygen.org/publication/PubMed/1445872" } ] }, { "title": "Activity of alpha- and theta-defensins against primary isolates of HIV-1.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Wang W, Owen SM, Rudolph DL, Cole AM, Hong T, Waring AJ, Lal RB, Lehrer RI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "15210812", "url": "https://glygen.org/publication/PubMed/15210812" } ] }, { "title": "Synthesis and characterization of human alpha-defensins 4-6.", "journal": "The journal of peptide research : official journal of the American Peptide Society", "date": "2004-09", "authors": "Wu Z, Ericksen B, Tucker K, Lubkowski J, Lu W", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" } ], "reference": [ { "type": "PubMed", "id": "15317502", "url": "https://glygen.org/publication/PubMed/15317502" } ] }, { "title": "Characterization of defensin precursors in mature human neutrophils.", "journal": "Blood", "date": "1992", "authors": "Harwig SS, Park AS, Lehrer RI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "1547345", "url": "https://glygen.org/publication/PubMed/1547345" } ] }, { "title": "Antibacterial activity and specificity of the six human {alpha}-defensins.", "journal": "Antimicrobial agents and chemotherapy", "date": "2005", "authors": "Ericksen B, Wu Z, Lu W, Lehrer RI", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" } ], "reference": [ { "type": "PubMed", "id": "15616305", "url": "https://glygen.org/publication/PubMed/15616305" } ] }, { "title": "Human neutrophil alpha-defensin 4 inhibits HIV-1 infection in vitro.", "journal": "FEBS letters", "date": "2005-01-03", "authors": "Wu Zhibin, Cocchi Fiorenza, Gentles David, Ericksen Bryan, Lubkowski Jacek, Devico Anthony, Lehrer Robert I, Lu Wuyuan", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" } ], "reference": [ { "type": "PubMed", "id": "15620707", "url": "https://glygen.org/publication/PubMed/15620707" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Crystal structures of human alpha-defensins HNP4, HD5, and HD6.", "journal": "Protein science : a publication of the Protein Society", "date": "2006", "authors": "Szyk A, Wu Z, Tucker K, Yang D, Lu W, Lubkowski J", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "17088326", "url": "https://glygen.org/publication/PubMed/17088326" } ] }, { "title": "Mechanisms of alpha-defensin bactericidal action: comparative membrane disruption by Cryptdin-4 and its disulfide-null analogue.", "journal": "Biochemistry", "date": "2008", "authors": "Hadjicharalambous C, Sheynis T, Jelinek R, Shanahan MT, Ouellette AJ, Gizeli E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "18973303", "url": "https://glygen.org/publication/PubMed/18973303" } ] }, { "title": "Crystal structure of defensin HNP-3, an amphiphilic dimer: mechanisms of membrane permeabilization.", "journal": "Science (New York, N.Y.)", "date": "1991", "authors": "Hill CP, Yee J, Selsted ME, Eisenberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "2006422", "url": "https://glygen.org/publication/PubMed/2006422" } ] }, { "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": "Gene expression of oncogenes, antimicrobial peptides, and cytokines in the development of oral leukoplakia.", "journal": "Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics", "date": "2010", "authors": "Wenghoefer M, Pantelis A, Najafi T, Deschner J, Allam JP, Novak N, Reich R, Martini M, Berge S, Fischer HP, Jepsen S, Winter J", "evidence": [ { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" } ], "reference": [ { "type": "PubMed", "id": "20727496", "url": "https://glygen.org/publication/PubMed/20727496" } ] }, { "title": "alpha-defensin 1-3 and alpha-defensin 4 as predictive markers of imatinib resistance and relapse in CML patients.", "journal": "Disease markers", "date": "2011", "authors": "Etienne G, Dupouy M, Costaglioli P, Chollet C, Lagarde V, Pasquet JM, Reiffers J, Garbay B, Mahon FX, Turcq B", "evidence": [ { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" } ], "reference": [ { "type": "PubMed", "id": "21734341", "url": "https://glygen.org/publication/PubMed/21734341" } ] }, { "title": "Human alpha-defensin (DEFA) gene expression helps to characterise benign and malignant salivary gland tumours.", "journal": "BMC cancer", "date": "2012", "authors": "Winter J, Pantelis A, Kraus D, Reckenbeil J, Reich R, Jepsen S, Fischer HP, Allam JP, Novak N, Wenghoefer M", "evidence": [ { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" } ], "reference": [ { "type": "PubMed", "id": "23050799", "url": "https://glygen.org/publication/PubMed/23050799" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", 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Mechanism of bactericidal activity.", "journal": "The Journal of clinical investigation", "date": "1989", "authors": "Lehrer RI, Barton A, Daher KA, Harwig SS, Ganz T, Selsted ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "2668334", "url": "https://glygen.org/publication/PubMed/2668334" } ] }, { "title": "Structure of a novel human granulocyte peptide with anti-ACTH activity.", "journal": "Biochemical and biophysical research communications", "date": "1988", "authors": "Singh A, Bateman A, Zhu QZ, Shimasaki S, Esch F, Solomon S", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" } ], "reference": [ { "type": "PubMed", "id": "2843187", "url": "https://glygen.org/publication/PubMed/2843187" } ] }, { "title": "Antimicrobial peptide gene expression in periodontitis patients: A pilot study.", "journal": "Journal of clinical periodontology", "date": "2018", "authors": "Jourdain ML, Pierrard L, Kanagaratnam L, Velard F, Sergheraert J, Lefevre B, Gangloff SC, Braux J", "evidence": [ { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" } ], "reference": [ { "type": "PubMed", "id": "29446150", "url": "https://glygen.org/publication/PubMed/29446150" } ] }, { "title": "Defensins. Natural peptide antibiotics of human neutrophils.", "journal": "The Journal of clinical investigation", "date": "1985", "authors": "Ganz T, Selsted ME, Szklarek D, Harwig SS, Daher K, Bainton DF, Lehrer RI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "2997278", "url": "https://glygen.org/publication/PubMed/2997278" } ] }, { "title": "Systematic mutational analysis of human neutrophil alpha-defensin HNP4.", "journal": "Biochimica et biophysica acta. Biomembranes", "date": "2019", "authors": "Hu H, Di B, Tolbert WD, Gohain N, Yuan W, Gao P, Ma B, He Q, Pazgier M, Zhao L, Lu W", "evidence": [ { "database": "UniProtKB", "id": "P12838", "url": "https://www.uniprot.org/uniprot/P12838" }, { "database": "RefSeq", "id": "NP_001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001916" } ], "reference": [ { "type": "PubMed", "id": "30658057", "url": "https://glygen.org/publication/PubMed/30658057" } ] }, { "title": "Interactions between human defensins and lipid bilayers: evidence for formation of multimeric pores.", "journal": "Protein science : a publication of the Protein Society", "date": "1994", "authors": "Wimley WC, Selsted ME, White SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "7833799", "url": "https://glygen.org/publication/PubMed/7833799" } ] }, { "title": "Posttranslational processing and targeting of transgenic human defensin in murine granulocyte, macrophage, fibroblast, and pituitary adenoma cell lines.", "journal": "Blood", "date": "1993", "authors": "Ganz T, Liu L, Valore EV, Oren A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1462054", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1462054" } ], "reference": [ { "type": "PubMed", "id": "8329717", "url": "https://glygen.org/publication/PubMed/8329717" } ] }, { "title": "The gene encoding the human corticostatin HP-4 precursor contains a recent 86-base duplication and is located on chromosome 8.", "journal": "Mol. 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