{ "uniprot_canonical_ac": "O00478-1", "uniprot_ac": "O00478", "uniprot_id": "BT3A3_HUMAN", "mass": { "chemical_mass": 65002.0, "monoisotopic_mass": 65002.0 }, "refseq": { "ac": "NP_001229732", "name": "butyrophilin subfamily 3 member A3 isoform c", "summary": "The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229732" }, "gene_names": [ { "name": "BTN3A3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00478", "id": "O00478" }, { "name": "BTF3; BTN3.3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229732", "id": "NP_001229732" }, { "name": "BTF3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00478", "id": "O00478" }, { "name": "BTN3A3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229732", "id": "NP_001229732" } ], "protein_names": [ { "name": "Butyrophilin subfamily 3 member A3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00478" }, { "name": "butyrophilin 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229732", "id": "NP_001229732" }, { "name": "butyrophilin subfamily 3 member A3 isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229732", "id": "NP_001229732" } ], "function": [ { "annotation": "Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population.", "evidence": [ { "database": "RefSeq", "id": "NP_001229732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229732" }, { "database": "PubMed", "id": "36804966", "url": "https://glygen.org/publication/PubMed/36804966" } ] }, { "annotation": "Macrophage-specific silencing of BTN3A3 in breast cancer cells decreased cancer stem cell frequency and tumor growth. Disruption of the LSECtin-BTN3A3 axis with BTN3A3-Fc or anti-BTN3A3 monoclonal antibodies has a therapeutic effect on breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001229732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229732" }, { "database": "PubMed", "id": "30858559", "url": "https://glygen.org/publication/PubMed/30858559" } ] }, { "annotation": "Plays a role in T-cell responses in the adaptive immune response.", "evidence": [ { "database": "UniProtKB", "id": "O00478", "url": "https://www.uniprot.org/uniprot/O00478#function" }, { "database": "PubMed", "id": "22767497", "url": "https://glygen.org/publication/PubMed/22767497" } ] }, { "annotation": "The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001229732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229732" } ] }, { "annotation": "This study identified that CGPs was found to significantly correlate with the differential expression and methylation of genes encoding butyrophilin, subfamily 3, member A3.", "evidence": [ { "database": "RefSeq", "id": "NP_001229732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229732" }, { "database": "PubMed", "id": "25243493", "url": "https://glygen.org/publication/PubMed/25243493" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O00478", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00478" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 573, "end_pos": 573, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NQN->NQS).", "chr_id": "6", "chr_pos": "26452374", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N573", "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "67.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "75.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "83.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "93.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "81.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "84.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111801", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111801" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00478" } ], "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": "O00478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00478" } ], "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": "O00478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00478" } ], "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00478" } ], "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": "O00478", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00478" } ], "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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"https://www.uniprot.org/uniprot/C9JQT8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JQT8-1", "url": "https://www.uniprot.org/uniprot/C9JQT8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JUV8", "url": "https://www.uniprot.org/uniprot/C9JUV8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JUV8-1", "url": "https://www.uniprot.org/uniprot/C9JUV8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JVU4", "url": "https://www.uniprot.org/uniprot/C9JVU4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JVU4-1", "url": "https://www.uniprot.org/uniprot/C9JVU4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JZT5", "url": "https://www.uniprot.org/uniprot/C9JZT5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JZT5-1", "url": "https://www.uniprot.org/uniprot/C9JZT5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00478", "url": "https://www.uniprot.org/uniprot/O00478", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00478-1", "url": "https://www.uniprot.org/uniprot/O00478-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00478-2", "url": "https://www.uniprot.org/uniprot/O00478-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKMASSLAFLLLNFHVSLFLVQLLTPCSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSAETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSDLHIEVKGYEDGGIHLECRSTGWYPQPQIKWSDTKGENIPAVEAPVVADGVGLYAVAASVIMRGSSGGGVSCIIRNSLLGLEKTASISIADPFFRSAQPWIAALAGTLPISLLLLAGASYFLWRQQKEKIALSRETEREREMKEMGYAATEQEISLREKLQEELKWRKIQYMARGEKSLAYHEWKMALFKPADVILDPDTANAILLVSEDQRSVQRAEEPRDLPDNPERFEWRYCVLGCENFTSGRHYWEVEVGDRKEWHIGVCSKNVERKKGWVKMTPENGYWTMGLTDGNKYRALTEPRTNLKLPEPPRKVGIFLDYETGEISFYNATDGSHIYTFPHASFSEPLYPVFRILTLEPTALTICPIPKEVESSPDPDLVPDHSLETPLTPGLANESGEPQAEVTSLLLPAHPGAEVSPSATTNQNHKLQARTEALY", "length": 584, "header": "sp|O00478-1|BT3A3_HUMAN Isoform 1 of Butyrophilin subfamily 3 member A3 OS=Homo sapiens OX=9606 GN=BTN3A3 PE=1 SV=1 CANONICAL=O00478-1" }, "isoforms": [ { "isoform_ac": "C9J3Q8-1", "url": "", "sequence": { "sequence": "MKMASSLAFLLLNFHVSLFLVQLLTPCSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSAETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKA", "length": 137, "header": "tr|C9J3Q8-1|BT3A3_HUMAN Computationally mapped isoform of Butyrophilin subfamily 3 member A3 OS=Homo sapiens OX=9606 GN=BTN3A3 PE=1 SV=8 CANONICAL=O00478-1" }, "locus": { "chromosome": "6", "start_pos": 26444282, "end_pos": 26443575, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000494393.5", "url": "https://www.ensembl.org/id/ENST00000494393.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417234.1", "url": "https://www.ensembl.org/id/ENSP00000417234.1" } ] } }, { "isoform_ac": "C9J877-1", "url": "", "sequence": { "sequence": "MVGEDADLPCHLFPTMSAETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSDLHIEVKGYEDGGIHLECRSTGWYPQPQIKWSDT", "length": 140, "header": "tr|C9J877-1|BT3A3_HUMAN Computationally mapped isoform of Butyrophilin subfamily 3 member A3 OS=Homo sapiens OX=9606 GN=BTN3A3 PE=1 SV=1 CANONICAL=O00478-1" }, "locus": { "chromosome": "6", "start_pos": 26445816, "end_pos": 26443998, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000471353.5", "url": "https://www.ensembl.org/id/ENST00000471353.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417717.1", "url": "https://www.ensembl.org/id/ENSP00000417717.1" } ] } }, { "isoform_ac": "C9JNZ3-1", "url": "", "sequence": { "sequence": "MVGEDADLPCHLFPTMSAETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELK", "length": 100, "header": "tr|C9JNZ3-1|BT3A3_HUMAN Computationally mapped isoform of Butyrophilin subfamily 3 member A3 OS=Homo sapiens OX=9606 GN=BTN3A3 PE=1 SV=1 CANONICAL=O00478-1" }, "locus": { "chromosome": "6", "start_pos": 26444297, "end_pos": 26443998, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487627.5", "url": "https://www.ensembl.org/id/ENST00000487627.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420339.1", "url": "https://www.ensembl.org/id/ENSP00000420339.1" } ] } }, { "isoform_ac": "C9JQT8-1", "url": "", "sequence": { "sequence": "MKMASSLAFLLLNFHVSLFLVQLLTPCSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSAETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSDLHIEVKGYEDGGIHLECRSTGWYPQPQIKWSDTKGENIPAVEAPVVADGVGLYAVAASVIMRGSSGGGVSCIIRNSLLGLEKTASISI", "length": 237, "header": "tr|C9JQT8-1|BT3A3_HUMAN Computationally mapped isoform of Butyrophilin subfamily 3 member A3 OS=Homo sapiens OX=9606 GN=BTN3A3 PE=1 SV=8 CANONICAL=O00478-1" }, "locus": { "chromosome": "6", "start_pos": 26445981, "end_pos": 26443575, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000496719.1", "url": "https://www.ensembl.org/id/ENST00000496719.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420147.1", "url": "https://www.ensembl.org/id/ENSP00000420147.1" } ] } }, { "isoform_ac": "C9JUV8-1", "url": "", "sequence": { "sequence": "MVGEDADLPCHLFPTMSAETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSDLHIEVKGYEDGGIHLECRSTGWYPQPQIKWSDTKGENIPAVEAPVVADGVGLYAVAASVIMRGSSGGGVSCIIRNSLLGLEKTASISIADPFFRSAQPWIAALAGTLPISLLLLAGASYFLWRQQKEKIALSRETEREREMKE", "length": 250, "header": "tr|C9JUV8-1|BT3A3_HUMAN Computationally mapped isoform of Butyrophilin subfamily 3 member A3 OS=Homo sapiens OX=9606 GN=BTN3A3 PE=1 SV=1 CANONICAL=O00478-1" }, "locus": { "chromosome": "6", "start_pos": 26448408, "end_pos": 26443998, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487272.1", "url": "https://www.ensembl.org/id/ENST00000487272.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419445.1", "url": "https://www.ensembl.org/id/ENSP00000419445.1" } ] } }, { "isoform_ac": "C9JVU4-1", "url": "", "sequence": { "sequence": "MKMASSLAFLLLNFHVSLFLVQLLTPCSDADLPCHLFPTMSAETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAA", "length": 127, "header": "tr|C9JVU4-1|BT3A3_HUMAN Computationally mapped isoform of Butyrophilin subfamily 3 member A3 OS=Homo sapiens OX=9606 GN=BTN3A3 PE=1 SV=1 CANONICAL=O00478-1" }, "locus": { "chromosome": "6", "start_pos": 26445705, "end_pos": 26443575, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000482451.5", "url": "https://www.ensembl.org/id/ENST00000482451.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419312.1", "url": "https://www.ensembl.org/id/ENSP00000419312.1" } ] } }, { "isoform_ac": "C9JZT5-1", "url": "", "sequence": { "sequence": "MVGEDADLPCHLFPTMSAETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAEWRKIQYMARGEKSLAYHEWKMALFKPADVILDPDTANAILLVSEDQRSVQRAEEPRDLPDNPERFEWRYCVLGCENFTSGRHYWEVEVGDRKEWHIGVCSKNVERKK", "length": 210, "header": "tr|C9JZT5-1|BT3A3_HUMAN Computationally mapped isoform of Butyrophilin subfamily 3 member A3 OS=Homo sapiens OX=9606 GN=BTN3A3 PE=1 SV=1 CANONICAL=O00478-1" }, "locus": { "chromosome": "6", "start_pos": 26451916, "end_pos": 26443998, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000490254.5", "url": "https://www.ensembl.org/id/ENST00000490254.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419736.1", "url": "https://www.ensembl.org/id/ENSP00000419736.1" } ] } }, { "isoform_ac": "O00478-1", "url": "", "sequence": { "sequence": "MKMASSLAFLLLNFHVSLFLVQLLTPCSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSAETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSDLHIEVKGYEDGGIHLECRSTGWYPQPQIKWSDTKGENIPAVEAPVVADGVGLYAVAASVIMRGSSGGGVSCIIRNSLLGLEKTASISIADPFFRSAQPWIAALAGTLPISLLLLAGASYFLWRQQKEKIALSRETEREREMKEMGYAATEQEISLREKLQEELKWRKIQYMARGEKSLAYHEWKMALFKPADVILDPDTANAILLVSEDQRSVQRAEEPRDLPDNPERFEWRYCVLGCENFTSGRHYWEVEVGDRKEWHIGVCSKNVERKKGWVKMTPENGYWTMGLTDGNKYRALTEPRTNLKLPEPPRKVGIFLDYETGEISFYNATDGSHIYTFPHASFSEPLYPVFRILTLEPTALTICPIPKEVESSPDPDLVPDHSLETPLTPGLANESGEPQAEVTSLLLPAHPGAEVSPSATTNQNHKLQARTEALY", "length": 584, "header": "sp|O00478-1|BT3A3_HUMAN Isoform 1 of Butyrophilin subfamily 3 member A3 OS=Homo sapiens OX=9606 GN=BTN3A3 PE=1 SV=1 CANONICAL=O00478-1" }, "locus": { "chromosome": "6", "start_pos": 26452408, "end_pos": 26443575, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000244519.7", "url": "https://www.ensembl.org/id/ENST00000244519.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000244519.2", "url": "https://www.ensembl.org/id/ENSP00000244519.2" } ] } }, { "isoform_ac": "O00478-2", "url": "", "sequence": { "sequence": "MVGEDADLPCHLFPTMSAETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASDSGKYLCYFQDGDFYEKALVELKVAALGSDLHIEVKGYEDGGIHLECRSTGWYPQPQIKWSDTKGENIPAVEAPVVADGVGLYAVAASVIMRGSSGGGVSCIIRNSLLGLEKTASISIADPFFRSAQPWIAALAGTLPISLLLLAGASYFLWRQQKEKIALSRETEREREMKEMGYAATEQEISLREWRKIQYMARGEKSLAYHEWKMALFKPADVILDPDTANAILLVSEDQRSVQRAEEPRDLPDNPERFEWRYCVLGCENFTSGRHYWEVEVGDRKEWHIGVCSKNVERKKGWVKMTPENGYWTMGLTDGNKYRALTEPRTNLKLPEPPRKVGIFLDYETGEISFYNATDGSHIYTFPHASFSEPLYPVFRILTLEPTALTICPIPKEVESSPDPDLVPDHSLETPLTPGLANESGEPQAEVTSLLLPAHPGAEVSPSATTNQNHKLQARTEALY", "length": 535, "header": "sp|O00478-2|BT3A3_HUMAN Isoform 2 of Butyrophilin subfamily 3 member A3 OS=Homo sapiens OX=9606 GN=BTN3A3 PE=1 SV=1 CANONICAL=O00478-1" }, "locus": { "chromosome": "6", "start_pos": 26452408, "end_pos": 26443998, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361232.7", "url": "https://www.ensembl.org/id/ENST00000361232.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000355238.3", "url": "https://www.ensembl.org/id/ENSP00000355238.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "O00478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00478#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "The housekeeping gene xanthine oxidoreductase is necessary for milk fat droplet enveloping and secretion: gene sharing in the lactating mammary gland.", "journal": "Genes & development", "date": "2002", "authors": "Vorbach C, Scriven A, Capecchi MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8851680", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8851680" } ], "reference": [ { "type": "PubMed", "id": "12502743", "url": "https://glygen.org/publication/PubMed/12502743" } ] }, { "title": "Signal peptide prediction based on analysis of experimentally verified cleavage sites.", "journal": "Protein Sci.", "date": "2004", "authors": "Zhang Z, Henzel WJ", "evidence": [ { "database": "UniProtKB", "id": "O00478", "url": "https://www.uniprot.org/uniprot/O00478" } ], "reference": [ { "type": "PubMed", "id": "15340161", "url": "https://glygen.org/publication/PubMed/15340161" } ] }, { "title": "BTNL2, a butyrophilin-like molecule that functions to inhibit T cell activation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2006", "authors": "Nguyen T, Liu XK, Zhang Y, Dong C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8851680", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8851680" } ], "reference": [ { "type": "PubMed", "id": "16751379", "url": "https://glygen.org/publication/PubMed/16751379" } ] }, { "title": "The B7 homolog butyrophilin BTN2A1 is a novel ligand for DC-SIGN.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2007", "authors": "Malcherek G, Mayr L, Roda-Navarro P, Rhodes D, Miller N, Trowsdale J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8851680", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8851680" } ], "reference": [ { "type": "PubMed", "id": "17785817", "url": "https://glygen.org/publication/PubMed/17785817" } ] }, { "title": "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.", "journal": "Nature biotechnology", "date": "2009", "authors": "Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD", "evidence": [ { "database": "UniProtKB", "id": "O00478", "url": "https://www.uniprot.org/uniprot/O00478#ptm_processing" }, { "database": "UniProtKB", "id": "O00478", "url": "https://www.uniprot.org/uniprot/O00478" } ], "reference": [ { "type": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "title": "The PRY/SPRY/B30.2 domain of butyrophilin 1A1 (BTN1A1) binds to xanthine oxidoreductase: implications for the function of BTN1A1 in the mammary gland and other tissues.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Jeong J, Rao AU, Xu J, Ogg SL, Hathout Y, Fenselau C, Mather IH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8851680", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8851680" } ], "reference": [ { "type": "PubMed", "id": "19531472", "url": "https://glygen.org/publication/PubMed/19531472" } ] }, { "title": "BTN1A1, the mammary gland butyrophilin, and BTN2A2 are both inhibitors of T cell activation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Smith IA, Knezevic BR, Ammann JU, Rhodes DA, Aw D, Palmer DB, Mather IH, Trowsdale J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8851680", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8851680" } ], "reference": [ { "type": "PubMed", "id": "20208008", "url": "https://glygen.org/publication/PubMed/20208008" } ] }, { "title": "Stimulation of human butyrophilin 3 molecules results in negative regulation of cellular immunity.", "journal": "Journal of leukocyte biology", "date": "2010", "authors": "Yamashiro H, Yoshizaki S, Tadaki T, Egawa K, Seo N", "evidence": [ { "database": "UniProtKB", "id": "O00478", "url": "https://www.uniprot.org/uniprot/O00478" } ], "reference": [ { "type": "PubMed", "id": "20610803", "url": "https://glygen.org/publication/PubMed/20610803" } ] }, { "title": "A butyrophilin family member critically inhibits T cell activation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Yamazaki T, Goya I, Graf D, Craig S, Martin-Orozco N, Dong C", "evidence": [ { "database": "Reactome", "id": "R-HSA-8851680", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8851680" } ], "reference": [ { "type": "PubMed", "id": "20944003", "url": "https://glygen.org/publication/PubMed/20944003" } ] }, { "title": "Differential role for CD277 as a co-regulator of the immune signal in T and NK cells.", "journal": "Eur. J. Immunol.", "date": "2011", "authors": "Messal Nassima, Mamessier Emilie, Sylvain Aude, Celis-Gutierrez Javier, Thibult Marie-Laure, Chetaille Bruno, Firaguay Guyl\u00e8ne, Pastor Sonia, Guillaume Yves, Wang Qian, Hirsch Ivan, Nun\u00e8s Jacques A, Olive Daniel", "evidence": [ { "database": "UniProtKB", "id": "O00478", "url": "https://www.uniprot.org/uniprot/O00478" } ], "reference": [ { "type": "PubMed", "id": "21918970", "url": "https://glygen.org/publication/PubMed/21918970" } ] }, { "title": "Key implication of CD277/butyrophilin-3 (BTN3A) in cellular stress sensing by a major human gammadelta T-cell subset.", "journal": "Blood", "date": "2012", "authors": "Harly C, Guillaume Y, Nedellec S, Peigne CM, Monkkonen H, Monkkonen J, Li J, Kuball J, Adams EJ, Netzer S, Dechanet-Merville J, Leger A, Herrmann T, Breathnach R, Olive D, Bonneville M, Scotet E", "evidence": [ { "database": "UniProtKB", "id": "O00478", "url": "https://www.uniprot.org/uniprot/O00478" } ], "reference": [ { "type": "PubMed", "id": "22767497", "url": "https://glygen.org/publication/PubMed/22767497" } ] }, { "title": "The molecular basis for modulation of human Vgamma9Vdelta2 T cell responses by CD277/butyrophilin-3 (BTN3A)-specific antibodies.", "journal": "J. Biol. Chem.", "date": "2012", "authors": "Palakodeti A, Sandstrom A, Sundaresan L, Harly C, Nedellec S, Olive D, Scotet E, Bonneville M, Adams EJ", "evidence": [ { "database": "UniProtKB", "id": "O00478", "url": "https://www.uniprot.org/uniprot/O00478" } ], "reference": [ { "type": "PubMed", "id": "22846996", "url": "https://glygen.org/publication/PubMed/22846996" } ] }, { "title": "BTNL8, a butyrophilin-like molecule that costimulates the primary immune response.", "journal": "Molecular immunology", "date": "2013", "authors": "Chapoval AI, Smithson G, Brunick L, Mesri M, Boldog FL, Andrew D, Khramtsov NV, Feshchenko EA, Starling GC, Mezes PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8851680", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8851680" } ], "reference": [ { "type": "PubMed", "id": "24036152", "url": "https://glygen.org/publication/PubMed/24036152" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large 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