{ "uniprot_canonical_ac": "O75908-1", "uniprot_ac": "O75908", "uniprot_id": "SOAT2_HUMAN", "mass": { "chemical_mass": 59896.0, "monoisotopic_mass": 59896.0 }, "refseq": { "ac": "NP_003569", "name": "sterol O-acyltransferase 2", "summary": "Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003569" }, "gene_names": [ { "name": "SOAT2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75908", "id": "O75908" }, { "name": "ACACT2; ACAT2; ARGP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003569", "id": "NP_003569" }, { "name": "ACACT2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75908", "id": "O75908" }, { "name": "ACAT2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75908", "id": "O75908" }, { "name": "SOAT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003569", "id": "NP_003569" } ], "protein_names": [ { "name": "Sterol O-acyltransferase 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75908" }, { "name": "2.3.1.26", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75908" }, { "name": "ACAT-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75908" }, { "name": "Acyl-coenzyme A:cholesterol acyltransferase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75908" }, { "name": "Cholesterol acyltransferase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75908" }, { "name": "acyl-CoA:cholesterol acyltransferase 2; acyl coenzyme A:cholesterol acyltransferase 2; acyl Co-A: cholesterol acyltransferase 2; ACAT-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003569", "id": "NP_003569" }, { "name": "sterol O-acyltransferase 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003569", "id": "NP_003569" } ], "function": [ { "annotation": "Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol (PubMed:16647063, PubMed:11294643). Plays a role in lipoprotein assembly and dietary cholesterol absorption (PubMed:11294643). Utilizes oleoyl-CoA ((9Z)-octadecenoyl-CoA) and linolenoyl-CoA ((9Z,12Z,15Z)-octadecatrienoyl-CoA) as substrates (PubMed:11294643). May provide cholesteryl esters for lipoprotein secretion from hepatocytes and intestinal mucosa (PubMed:11294643).", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908#function" }, { "database": "PubMed", "id": "11294643", "url": "https://glygen.org/publication/PubMed/11294643" }, { "database": "PubMed", "id": "16647063", "url": "https://glygen.org/publication/PubMed/16647063" } ] }, { "annotation": "Has lower enzymatic activity compared to isoform 1.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908#function" }, { "database": "PubMed", "id": "16331323", "url": "https://glygen.org/publication/PubMed/16331323" } ] }, { "annotation": "Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003569" }, { "database": "PubMed", "id": "36694223", "url": "https://glygen.org/publication/PubMed/36694223" } ] }, { "annotation": "Sterol O-acyltransferase 2 chaperoned by apolipoprotein J facilitates hepatic lipid accumulation following viral and nutrient stresses. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003569" }, { "database": "PubMed", "id": "33980978", "url": "https://glygen.org/publication/PubMed/33980978" } ] }, { "annotation": "This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003569" } ] }, { "annotation": "Whole-exome sequencing and genome-wide association studies identify novel sarcopenia risk genes in Han Chinese.", "evidence": [ { "database": "RefSeq", "id": "NP_003569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003569" }, { "database": "PubMed", "id": "32478482", "url": "https://glygen.org/publication/PubMed/32478482" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 100, "end_pos": 100, "sequence_org": "K", "sequence_mut": "R", "comment": "In K-null mutant; does not affect ubiquitination and sterol-regulated stabilization; when associated with R-49, R-80, R-102, R-108, R-242 and R-299.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "start_pos": 102, "end_pos": 102, "sequence_org": "K", "sequence_mut": "R", "comment": "In K-null mutant; does not affect ubiquitination and sterol-regulated stabilization; when associated with R-49, R-80, R-100, R-108, R-242 and R-299.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "start_pos": 108, "end_pos": 108, "sequence_org": "K", "sequence_mut": "R", "comment": "In K-null mutant; does not affect ubiquitination and sterol-regulated stabilization; when associated with R-49, R-80, R-100, R-102, R-242 and R-299.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "start_pos": 242, "end_pos": 242, "sequence_org": "K", "sequence_mut": "R", "comment": "In K-null mutant; does not affect ubiquitination and sterol-regulated stabilization; when associated with R-49, R-80, R-100, R-102, R-108 and R-299.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "start_pos": 254, "end_pos": 254, "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect ubiquitination and sterol-regulated stabilization; when associated with R-279.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "start_pos": 267, "end_pos": 270, "sequence_org": "SFSS", "sequence_mut": "AFAA", "comment": "Does not affect ubiquitination and sterol-regulated stabilization.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "start_pos": 277, "end_pos": 277, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolished ubiquitination and sterol-regulated stabilization.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "start_pos": 279, "end_pos": 279, "sequence_org": "T", "sequence_mut": "A", "comment": "Does not affect ubiquitination and sterol-regulated stabilization; when associated with R-54.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "start_pos": 299, "end_pos": 299, "sequence_org": "K", "sequence_mut": "R", "comment": "In K-null mutant; does not affect ubiquitination and sterol-regulated stabilization; when associated with R-49, R-80, R-100, R-102, R-108 and R-242.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "start_pos": 360, "end_pos": 360, "sequence_org": "H", "sequence_mut": "A", "comment": "Abolished cholesterol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "16647063", "url": "https://glygen.org/publication/PubMed/16647063" } ] }, { "start_pos": 399, "end_pos": 399, "sequence_org": "H", "sequence_mut": "A", "comment": "Abolished cholesterol O-acyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "16647063", "url": "https://glygen.org/publication/PubMed/16647063" } ] }, { "start_pos": 49, "end_pos": 49, "sequence_org": "K", "sequence_mut": "R", "comment": "In K-null mutant; does not affect ubiquitination and sterol-regulated stabilization; when associated with R-80, R-100, R-102, R-108, R-242 and R-299.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "start_pos": 80, "end_pos": 80, "sequence_org": "K", "sequence_mut": "R", "comment": "In K-null mutant; does not affect ubiquitination and sterol-regulated stabilization; when associated with R-49, R-100, R-102, R-108, R-242 and R-299.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "52.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "55.58", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "67.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "51.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "56.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "52.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "53.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "56.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "58.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167780", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167780" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75908" } ], "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": 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"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", 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"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 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"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", 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"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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75908" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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"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 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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": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75908" } ], "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75908" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75908" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75908" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75908" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75908", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75908" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10408:SF10", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7N6Q", "url": "https://www.rcsb.org/structure/7N6Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7N6R", "url": "https://www.rcsb.org/structure/7N6R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF03062", "url": "http://pfam.xfam.org/family/PF03062", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75908", "url": "https://pharos.nih.gov/targets/O75908", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75908", "url": "http://purl.obolibrary.org/obo/PR_O75908", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003569", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "17729", "url": "https://www.rhea-db.org/rhea/17729", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "41436", "url": "https://www.rhea-db.org/rhea/41436", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "42816", "url": "https://www.rhea-db.org/rhea/42816", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "46612", "url": "https://www.rhea-db.org/rhea/46612", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "46620", "url": "https://www.rhea-db.org/rhea/46620", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "59816", "url": "https://www.rhea-db.org/rhea/59816", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "F8VPE9", "url": "https://www.uniprot.org/uniprot/F8VPE9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VPE9-1", "url": "https://www.uniprot.org/uniprot/F8VPE9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75908-1", "url": "https://www.uniprot.org/uniprot/O75908-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75908-2", "url": "https://www.uniprot.org/uniprot/O75908-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75908-3", "url": "https://www.uniprot.org/uniprot/O75908-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75908-4", "url": "https://www.uniprot.org/uniprot/O75908-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEPGGARLRLQRTEGLGGERERQPCGDGNTETHRAPDLVQWTRHMEAVKAQLLEQAQGQLRELLDRAMREAIQSYPSQDKPLPPPPPGSLSRTQEPSLGKQKVFIIRKSLLDELMEVQHFRTIYHMFIAGLCVFIISTLAIDFIDEGRLLLEFDLLIFSFGQLPLALVTWVPMFLSTLLAPYQALRLWARGTWTQATGLGCALLAAHAVVLCALPVHVAVEHQLPPASRCVLVFEQVRFLMKSYSFLREAVPGTLRARRGEGIQAPSFSSYLYFLFCPTLIYRETYPRTPYVRWNYVAKNFAQALGCVLYACFILGRLCVPVFANMSREPFSTRALVLSILHATLPGIFMLLLIFFAFLHCWLNAFAEMLRFGDRMFYRDWWNSTSFSNYYRTWNVVVHDWLYSYVYQDGLRLLGARARGVAMLGVFLVSAVAHEYIFCFVLGFFYPVMLILFLVIGGMLNFMMHDQRTGPAWNVLMWTMLFLGQGIQVSLYCQEWYARRHCPLPQATFWGLVTPRSWSCHT", "length": 522, "header": "sp|O75908-1|SOAT2_HUMAN Isoform 1 of Sterol O-acyltransferase 2 OS=Homo sapiens OX=9606 GN=SOAT2 PE=1 SV=1 CANONICAL=O75908-1" }, "isoforms": [ { "isoform_ac": "F8VPE9-1", "url": "", "sequence": { "sequence": "MEPGGARLRLQRTEGLGGERERQPCGDGNTETHRAPDLVQWTRHMEAVKAQLLEQAQGQLRELLDRAMREAIQSYPSQDKPLPPPPPGSLSSELMEVQHFRTIYHMFIAGLCVFIISTLAIDFIDEGRLLLEFDLLIFSFGQLPLALVTWVPMFLSTLLAPYQALRLWAR", "length": 170, "header": "tr|F8VPE9-1|F8VPE9_HUMAN Computationally mapped isoform of Sterol O-acyltransferase 2 OS=Homo sapiens OX=9606 GN=SOAT2 PE=1 SV=1 CANONICAL=O75908-1" }, "locus": { "chromosome": "12", "start_pos": 53115516, "end_pos": 53103578, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551896.5", "url": "https://www.ensembl.org/id/ENST00000551896.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450120.1", "url": "https://www.ensembl.org/id/ENSP00000450120.1" } ] } }, { "isoform_ac": "O75908-1", "url": "", "sequence": { "sequence": "MEPGGARLRLQRTEGLGGERERQPCGDGNTETHRAPDLVQWTRHMEAVKAQLLEQAQGQLRELLDRAMREAIQSYPSQDKPLPPPPPGSLSRTQEPSLGKQKVFIIRKSLLDELMEVQHFRTIYHMFIAGLCVFIISTLAIDFIDEGRLLLEFDLLIFSFGQLPLALVTWVPMFLSTLLAPYQALRLWARGTWTQATGLGCALLAAHAVVLCALPVHVAVEHQLPPASRCVLVFEQVRFLMKSYSFLREAVPGTLRARRGEGIQAPSFSSYLYFLFCPTLIYRETYPRTPYVRWNYVAKNFAQALGCVLYACFILGRLCVPVFANMSREPFSTRALVLSILHATLPGIFMLLLIFFAFLHCWLNAFAEMLRFGDRMFYRDWWNSTSFSNYYRTWNVVVHDWLYSYVYQDGLRLLGARARGVAMLGVFLVSAVAHEYIFCFVLGFFYPVMLILFLVIGGMLNFMMHDQRTGPAWNVLMWTMLFLGQGIQVSLYCQEWYARRHCPLPQATFWGLVTPRSWSCHT", "length": 522, "header": "sp|O75908-1|SOAT2_HUMAN Isoform 1 of Sterol O-acyltransferase 2 OS=Homo sapiens OX=9606 GN=SOAT2 PE=1 SV=1 CANONICAL=O75908-1" }, "locus": { "chromosome": "12", "start_pos": 53124120, "end_pos": 53103578, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000301466.8", "url": "https://www.ensembl.org/id/ENST00000301466.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000301466.3", "url": "https://www.ensembl.org/id/ENSP00000301466.3" } ] } }, { "isoform_ac": "O75908-2", "url": "", "sequence": { "sequence": "MEPGGARLRLQRTEGLGGERERQPCGDGNTETHRAPDLVQWTRHMEAVKAQLLEQAQGQLRELLDRAMREAIQSYPSQDKPLPPPPPGSLSRELMEVQHFRTIYHMFIAGLCVFIISTLAIDFIDEGRLLLEFDLLIFSFGQLPLALVTWVPMFLSTLLAPYQALRLWARGTWTQATGLGCALLAAHAVVLCALPVHVAVEHQLPPASRCVLVFEQVRFLMKSYSFLREAVPGTLRARRGEGIQAPSFSSYLYFLFCPTLIYRETYPRTPYVRWNYVAKNFAQALGCVLYACFILGRLCVPVFANMSREPFSTRALVLSILHATLPGIFMLLLIFFAFLHCWLNAFAEMLRFGDRMFYRDWWNSTSFSNYYRTWNVVVHDWLYSYVYQDGLRLLGARARGVAMLGVFLVSAVAHEYIFCFVLGFFYPVMLILFLVIGGMLNFMMHDQRTGPAWNVLMWTMLFLGQGIQVSLYCQEWYARRHCPLPQATFWGLVTPRSWSCHT", "length": 502, "header": "sp|O75908-2|SOAT2_HUMAN Isoform 2 of Sterol O-acyltransferase 2 OS=Homo sapiens OX=9606 GN=SOAT2 PE=1 SV=1 CANONICAL=O75908-1" }, "locus": {} }, { "isoform_ac": "O75908-3", "url": "", "sequence": { "sequence": "MEPGGARLRLQRTEGLGGERERQPCGDGNTETHRAPDLVQWTRHMEAVKAQLLEQAQGQLRELLDRAMREAIQSYPSQDKPLPPPPPGSLSRLLLEFDLLIFSFGQLPLALVTWVPMFLSTLLAPYQALRLWARGTWTQATGLGCALLAAHAVVLCALPVHVAVEHQLPPASRCVLVFEGIQAPSFSSYLYFLFCPTLIYRETYPRTPYVRWNYVAKNFAQALGCVLYACFILGRLCVPVFANMSREPFSTRALVLSILHATLPGIFMLLLIFFAFLHCWLNAFAEMLRFGDRMFYRDWWNSTSFSNYYRTWNVVVHDWLYSYVYQDGLRLLGARARGVAMLGVFLVSAVAHEYIFCFVLGFFYPVMLILFLVIGGMLNFMMHDQRTGPAWNVLMWTMLFLGQGIQVSLYCQEWYARRHCPLPQATFWGLVTPRSWSCHT", "length": 440, "header": "sp|O75908-3|SOAT2_HUMAN Isoform 3 of Sterol O-acyltransferase 2 OS=Homo sapiens OX=9606 GN=SOAT2 PE=1 SV=1 CANONICAL=O75908-1" }, "locus": {} }, { "isoform_ac": "O75908-4", "url": "", "sequence": { "sequence": "MEPGGARLRLQRTEGLGGERERQPCGDGNTETHRAPDLVQWTRHMEAVKAQLLEQAQGQLRELLDRAMREAIQSYPSQDKPLPPPPPGSLSRTQEPSLGKQKVFIIRKSLLDELMEVQHFRTIYHMFIAGLCVFIISTLAIDFIDEGRLLLEFDLLIFSFGQLPLALVTWVPMFLSTLLAPYQALRLWARGTWTQATGLGCALLAAHAVVLCALPVHVAVEHQLPPASRCVLVFEQVRFLMKSYSFLREAVPGTLRARRGEGIQAPSFSSYLYFLFCPTLIYRETYPRPWDVCSMPASSWAASVFLSLPT", "length": 310, "header": "sp|O75908-4|SOAT2_HUMAN Isoform 4 of Sterol O-acyltransferase 2 OS=Homo sapiens OX=9606 GN=SOAT2 PE=1 SV=1 CANONICAL=O75908-1" }, "locus": { "chromosome": "12", "start_pos": 53119190, "end_pos": 53103578, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542365.1", "url": "https://www.ensembl.org/id/ENST00000542365.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000442234.1", "url": "https://www.ensembl.org/id/ENSP00000442234.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Molecular cloning of a lipolysis-stimulated remnant receptor expressed in the liver.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yen FT, Masson M, Clossais-Besnard N, Andre P, Grosset JM, Bougueleret L, Dumas JB, Guerassimenko O, Bihain BE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "10224102", "url": "https://glygen.org/publication/PubMed/10224102" } ] }, { "title": "Human acyl-CoA:cholesterol acyltransferase-1 in the endoplasmic reticulum contains seven transmembrane domains.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Lin S, Cheng D, Liu MS, Chen J, Chang TY", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "10438503", "url": "https://glygen.org/publication/PubMed/10438503" } ] }, { "title": "Immunological quantitation and localization of ACAT-1 and ACAT-2 in human liver and small intestine.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Chang CC, Sakashita N, Ornvold K, Lee O, Chang ET, Dong R, Lin S, Lee CY, Strom SC, Kashyap R, Fung JJ, Farese RV Jr, Patoiseau JF, Delhon A, Chang TY", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" } ], "reference": [ { "type": "PubMed", "id": "10846185", "url": "https://glygen.org/publication/PubMed/10846185" } ] }, { "title": "Differential modulation of ACAT1 and ACAT2 transcription and activity by long chain free fatty acids in cultured cells.", "journal": "Biochemistry", "date": "2001", "authors": "Seo T, Oelkers PM, Giattina MR, Worgall TS, Sturley SL, Deckelbaum RJ", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" } ], "reference": [ { "type": "PubMed", "id": "11294643", "url": "https://glygen.org/publication/PubMed/11294643" } ] }, { "title": "Structure of the human acyl-CoA:cholesterol acyltransferase-2 (ACAT-2) gene and its relation to dyslipidemia.", "journal": "Biochim. Biophys. Acta", "date": "2001", "authors": "Katsuren K, Tamura T, Arashiro R, Takata K, Matsuura T, Niikawa N, Ohta T", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" } ], "reference": [ { "type": "PubMed", "id": "11325614", "url": "https://glygen.org/publication/PubMed/11325614" } ] }, { "title": "Organization of human ACAT-2 gene and its cell-type-specific promoter activity.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2001", "authors": "Song B L, Qi W, Yang X Y, Chang C C, Zhu J Q, Chang T Y, Li B L", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" } ], "reference": [ { "type": "PubMed", "id": "11401500", "url": "https://glygen.org/publication/PubMed/11401500" } ] }, { "title": "Acyl-coenzyme A: cholesterol acyltransferase modulates the generation of the amyloid beta-peptide.", "journal": "Nature cell biology", "date": "2001", "authors": "Puglielli L, Konopka G, Pack-Chung E, Ingano LA, Berezovska O, Hyman BT, Chang TY, Tanzi RE, Kovacs DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "11584272", "url": "https://glygen.org/publication/PubMed/11584272" } ] }, { "title": "ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "He G, Gupta S, Yi M, Michaely P, Hobbs HH, Cohen JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "12221107", "url": "https://glygen.org/publication/PubMed/12221107" } ] }, { "title": "Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.", "journal": "The Journal of clinical investigation", "date": "2002", "authors": "Eden ER, Patel DD, Sun XM, Burden JJ, Themis M, Edwards M, Lee P, Neuwirth C, Naoumova RP, Soutar AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "12464675", "url": "https://glygen.org/publication/PubMed/12464675" } ] }, { "title": "The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Michaely P, Li WP, Anderson RG, Cohen JC, Hobbs HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "15166224", "url": "https://glygen.org/publication/PubMed/15166224" } ] }, { "title": "Distribution of the lipolysis stimulated receptor in adult and embryonic murine tissues and lethality of LSR-/- embryos at 12.5 to 14.5 days of gestation.", "journal": "European journal of biochemistry", "date": "2004", "authors": "Mesli S, Javorschi S, Berard AM, Landry M, Priddle H, Kivlichan D, Smith AJ, Yen FT, Bihain BE, Darmon M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "15265030", "url": "https://glygen.org/publication/PubMed/15265030" } ] }, { "title": "The modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Garuti R, Jones C, Li WP, Michaely P, Herz J, Gerard RD, Cohen JC, Hobbs HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "16179341", "url": "https://glygen.org/publication/PubMed/16179341" } ] }, { "title": "Two human ACAT2 mRNA variants produced by alternative splicing and coding for novel isoenzymes.", "journal": "Acta biochimica et biophysica Sinica", "date": "2005-12", "authors": "Yao Xiao-Min, Wang Can-Hua, Song Bao-Liang, Yang Xin-Ying, Wang Zhen-Zhen, Qi Wei, Lin Zhi-Xin, Chang Catherine C Y, Chang Ta-Yuan, Li Bo-Liang", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" } ], "reference": [ { "type": "PubMed", "id": "16331323", "url": "https://glygen.org/publication/PubMed/16331323" } ] }, { "title": "A critical role for the histidine residues in the catalytic function of acyl-CoA:cholesterol acyltransferase catalysis: evidence for catalytic difference between ACAT1 and ACAT2.", "journal": "FEBS letters", "date": "2006", "authors": "An S, Cho KH, Lee WS, Lee JO, Paik YK, Jeong TS", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" } ], "reference": [ { "type": "PubMed", "id": "16647063", "url": "https://glygen.org/publication/PubMed/16647063" } ] }, { "title": "NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Liou HL, Dixit SS, Xu S, Tint GS, Stock AM, Lobel P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "17018531", "url": "https://glygen.org/publication/PubMed/17018531" } ] }, { "title": "Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Anderson RA, Sando GN", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "1718995", "url": "https://glygen.org/publication/PubMed/1718995" } ] }, { "title": "Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Zhang DW, Lagace TA, Garuti R, Zhao Z, McDonald M, Horton JD, Cohen JC, Hobbs HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "17452316", "url": "https://glygen.org/publication/PubMed/17452316" } ] }, { "title": "Lipolysis stimulated lipoprotein receptor: a novel molecular link between hyperlipidemia, weight gain, and atherosclerosis in mice.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Yen FT, Roitel O, Bonnard L, Notet V, Pratte D, Stenger C, Magueur E, Bihain BE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "18644789", "url": "https://glygen.org/publication/PubMed/18644789" } ] }, { "title": "NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Infante RE, Wang ML, Radhakrishnan A, Kwon HJ, Brown MS, Goldstein JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "18772377", "url": "https://glygen.org/publication/PubMed/18772377" } ] }, { "title": "Identification of neutral cholesterol ester hydrolase, a key enzyme removing cholesterol from macrophages.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Okazaki H, Igarashi M, Nishi M, Sekiya M, Tajima M, Takase S, Takanashi M, Ohta K, Tamura Y, Okazaki S, Yahagi N, Ohashi K, Amemiya-Kudo M, Nakagawa Y, Nagai R, Kadowaki T, Osuga J, Ishibashi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "18782767", "url": "https://glygen.org/publication/PubMed/18782767" } ] }, { "title": "Acyl-coenzyme A:cholesterol acyltransferases.", "journal": "American journal of physiology. 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"https://www.uniprot.org/uniprot/O75908" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 325, "end_pos": 327, "annotation": "n_glycosylation_sequon" }, { "start_pos": 383, "end_pos": 385, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Oxidized at Cys-277: high concentration of cholesterol and fatty acid induce reactive oxygen species, which oxidizes Cys-277, preventing ubiquitination at the same site, and resulting in protein stabilization.", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] }, { "annotation": "Polyubiquitinated by AMFR/gp78 at Cys-277, leading to its degradation when the lipid levels are low (PubMed:28604676). Association with AMFR/gp78 is mediated via interaction with INSIG1 (PubMed:28604676). High concentration of cholesterol and fatty acid results in Cys-277 oxidation, preventing ubiquitination at the same site, resulting in protein stabilization (PubMed:28604676).", "evidence": [ { "database": "UniProtKB", "id": "O75908", "url": "https://www.uniprot.org/uniprot/O75908" }, { "database": "PubMed", "id": "28604676", "url": "https://glygen.org/publication/PubMed/28604676" } ] } ], "interactions": [], "reactions": [ { "id": "17729", "name": "", "equation": "an acyl-CoA + cholesterol = a cholesterol ester + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70536-1", "Q7TQM4-1", "O75908-1", "P35610-1", "Q61263-1", "O88908-1", "Q8MYW9-1" ], "evidence": [ { "id": "17729", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17729" } ] }, { "id": "41436", "name": "", "equation": "(9Z)-octadecenoyl-CoA + cholesterol = cholesteryl (9Z-octadecenoate) + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70536-1", "Q7TQM4-1", "O75908-1", "P35610-1", "Q61263-1", "O88908-1", "Q8MYW9-1" ], "evidence": [ { "id": "41436", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41436" } ] }, { "id": "42816", "name": "", "equation": "(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + cholesterol = cholesteryl (5Z,8Z,11Z,14Z)-eicosatetraenoate + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70536-1", "Q7TQM4-1", "O75908-1", "P35610-1", "Q61263-1", "O88908-1", "Q8MYW9-1" ], "evidence": [ { "id": "42816", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/42816" } ] }, { "id": "46612", "name": "", "equation": "(5Z,8Z,11Z,14Z,17Z)-eicosapentaenoyl-CoA + cholesterol = (5Z,8Z,11Z,14Z,17Z-eicosapentaenoyl)-cholesterol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q7TQM4-1", "O75908-1", "O88908-1" ], "evidence": [ { "id": "46612", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46612" } ] }, { "id": "46620", "name": "", "equation": "(9Z,12Z,15Z)-octadecatrienoyl-CoA + cholesterol = (9Z,12Z,15Z-octadecatrienoyl)-cholesterol + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q7TQM4-1", "O75908-1", "O88908-1" ], "evidence": [ { "id": "46620", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46620" } ] }, { "id": "59816", "name": "", "equation": "a long-chain fatty acyl-CoA + a sterol = a sterol ester + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70536-1", "Q7TQM4-1", "O75908-1", "P35610-1", "Q61263-1", "O88908-1", "Q8MYW9-1" ], "evidence": [ { "id": "59816", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/59816" } ] }, { "id": "R-HSA-8876696", "name": "SOAT1,2 transfer acyl group to CHOL forming CHEST", "equation": "", "summary": "Excess cellular cholesterol (CHOL) is esterified and stored as cholesteryl ester (CHEST). The conversion is catalysed by the ER membrane-residing sterol O-acyltransferases 1 and 2 (SOAT1 and SOAT 2, aka acyl-coenzyme A:cholesterol acyltransferase 1 and 2, ACAT1 and 2) (Chang et al. 1993, Oelkers et al. 1998, Lin et al. 1999). CHESTs are usually present at low levels in most cells but chronic accumulation of CHEST in macrophages causes these cells to appear foamy and is a characteristic of early stage atherosclerosis (Becker et al. 1994). The SOAT enzymes are being investigated as potential drug targets for atherosclerosis and for Alzheimer's disease (Chang et al. 2009). Alzheimer's disease is a prevalent neurodegenerative disease, characterised by a large extracellular accumulation of amyloid plaques, composed mainly of beta-amyloid peptide aggregates. Increases in free cholesterol in the membrane, which can be caused by inhibiting ACAT1, can lead to the decrease of amyloid precursor protein processing. Pharmacological inhibitors of ACAT1 are potential treatment routes for Alzheimer's disease (Puglielli et al. 2001, Chang et al. 2009, Zhu et al. 2015).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-8876704" ], "enzyme_list": [ "O75908-1", "P35610-1" ], "evidence": [ { "id": "R-HSA-8876696", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876696" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-8876704", "participant_name": "CHEST [endoplasmic reticulum membrane]", "crossref": [ { "id": "17002", "database": "ChEBI", "url": "" }, { "id": "C02530", "database": "COMPOUND", "url": "" }, { "id": "17002", "database": "ChEBI", "url": "" }, { "id": "C02530", "database": "COMPOUND", "url": "" }, { "id": "C02530", "database": "COMPOUND", "url": "" }, { "id": "17002", "database": "ChEBI", "url": "" }, { "id": "17002", "database": "ChEBI", "url": "" }, { "id": "C02530", "database": "COMPOUND", "url": "" }, { "id": "17002", "database": "ChEBI", "url": "" }, { "id": "C02530", "database": "COMPOUND", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O70536", "gene_name": "Soat1", "activity": [ { "ec_number": "2.3.1.26", "activity": "a long-chain fatty acyl-CoA + a sterol = a sterol ester + CoA.", "evidence": [ { "id": "O70536", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70536" } ] }, { "ec_number": "2.3.1.26", "activity": "", "evidence": [ { "id": "O70536", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70536" } ] } ] }, { "uniprot_ac": "O75908", "gene_name": "SOAT2", "activity": [ { "ec_number": "2.3.1.26", "activity": "a long-chain fatty acyl-CoA + a sterol = a sterol ester + CoA.", "evidence": [ { "id": "O75908", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75908" } ] }, { "ec_number": "2.3.1.26", "activity": "", "evidence": [ { "id": "O75908", "database": "UniProtKB", 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