{ "uniprot_canonical_ac": "Q969R2-1", "uniprot_ac": "Q969R2", "uniprot_id": "OSBP2_HUMAN", "mass": { "chemical_mass": 101266.0, "monoisotopic_mass": 101266.0 }, "refseq": { "ac": "NP_001269667", "name": "oxysterol-binding protein 2 isoform c", "summary": "The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667" }, "gene_names": [ { "name": "OSBP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q969R2", "id": "Q969R2" }, { "name": "KIAA1664", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q969R2", "id": "Q969R2" }, { "name": "ORP4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q969R2", "id": "Q969R2" }, { "name": "OSBPL4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q969R2", "id": "Q969R2" }, { "name": "hCG_41303", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q969R2", "id": "Q969R2" } ], "protein_names": [ { "name": "Oxysterol-binding protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q969R2" }, { "name": "ORP-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q969R2" }, { "name": "OSBP-related protein 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q969R2" }, { "name": "Oxysterol-binding protein-related protein 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q969R2" }, { "name": "oxysterol binding protein-like 1; OSBP-related protein 4; oxysterol-binding protein-related protein 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667", "id": "NP_001269667" }, { "name": "oxysterol-binding protein 2 isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667", "id": "NP_001269667" } ], "function": [ { "annotation": "Binds 7-ketocholesterol.", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2#function" } ] }, { "annotation": "ORP4L interacts with the trans-Golgi networt in an sterol- and phosphatidylinositol 4-phosphate -dependent manner. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667" }, { "database": "PubMed", "id": "29930082", "url": "https://glygen.org/publication/PubMed/29930082" } ] }, { "annotation": "ORP4L is a cofactor of ITPR1.", "evidence": [ { "database": "RefSeq", "id": "NP_001269667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667" }, { "database": "PubMed", "id": "31648575", "url": "https://glygen.org/publication/PubMed/31648575" } ] }, { "annotation": "ORP4L is a prerequisite for the induction of T-cell leukemogenesis associated with human T-cell leukemia virus 1.", "evidence": [ { "database": "RefSeq", "id": "NP_001269667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667" }, { "database": "PubMed", "id": "34797912", "url": "https://glygen.org/publication/PubMed/34797912" } ] }, { "annotation": "The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001269667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667" } ] }, { "annotation": "This study reveals detailed mechanistic insight into the role of ORP4L in PLCbeta3 redistribution from storage within the nucleus to the plasma membrane via RAN activation and interaction with VAPA in Jurkat T-cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001269667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667" }, { "database": "PubMed", "id": "30237164", "url": "https://glygen.org/publication/PubMed/30237164" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q969R2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q969R2" } ], "glycoeffect": [], "start_pos": 387, "end_pos": 387, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "22", "chr_pos": "30887477", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R387", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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": "" } ] }, { "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": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "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": "64.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "62.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "72.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "83.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "70.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "72.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "66.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "67.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "62.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "65.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "70.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184792", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184792" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q969R2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q969R2" } ], "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 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"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", 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"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", 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"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 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"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, 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"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", 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"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", 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"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", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q969R2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q969R2" } ], "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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q969R2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q969R2" } ], "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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q969R2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q969R2" } ], "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": "Q969R2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q969R2" } ], "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": "Q969R2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q969R2" } ], "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": "Q969R2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q969R2" } ], "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": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q969R2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q969R2" } ], "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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"categories": [ "Protein Classification" ] }, { "id": "OSBP2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=OSBP2", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "23762", "url": "https://www.ncbi.nlm.nih.gov/gene/23762", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "8504", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8504", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q969R2", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q969R2*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000648", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000648", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001849", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001849", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018494", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018494", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037239", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037239", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23762", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23762", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "606729", "url": "http://www.omim.org/entry/606729", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q969R2", "url": "https://www.nextprot.org/entry/NX_Q969R2", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q969R2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q969R2", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "LPEMKGW", "url": "https://omabrowser.org/oma/group/LPEMKGW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "960at2759", "url": "http://www.orthodb.org/?query=960at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10972", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10972", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10972:SF194", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10972:SF194", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10972:SF205", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10972:SF205", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00169", "url": "http://pfam.xfam.org/family/PF00169", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01237", "url": "http://pfam.xfam.org/family/PF01237", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q969R2", "url": "https://pharos.nih.gov/targets/Q969R2", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q969R2", "url": "http://purl.obolibrary.org/obo/PR_Q969R2", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001269667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0A0MSB4", "url": "https://www.uniprot.org/uniprot/A0A0A0MSB4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MSB4-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MSB4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J7J0", "url": "https://www.uniprot.org/uniprot/C9J7J0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J7J0-1", "url": "https://www.uniprot.org/uniprot/C9J7J0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JS84", "url": "https://www.uniprot.org/uniprot/C9JS84", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JS84-1", "url": "https://www.uniprot.org/uniprot/C9JS84-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C001", "url": "https://www.uniprot.org/uniprot/H7C001", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C001-1", "url": "https://www.uniprot.org/uniprot/H7C001-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1R2", "url": "https://www.uniprot.org/uniprot/H7C1R2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1R2-1", "url": "https://www.uniprot.org/uniprot/H7C1R2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C313", "url": "https://www.uniprot.org/uniprot/H7C313", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C313-1", "url": "https://www.uniprot.org/uniprot/H7C313-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C368", "url": "https://www.uniprot.org/uniprot/H7C368", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C368-1", "url": "https://www.uniprot.org/uniprot/H7C368-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C428", "url": "https://www.uniprot.org/uniprot/H7C428", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C428-1", "url": "https://www.uniprot.org/uniprot/H7C428-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6ZN50", "url": "https://www.uniprot.org/uniprot/Q6ZN50", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6ZN50-1", "url": "https://www.uniprot.org/uniprot/Q6ZN50-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969R2-1", "url": "https://www.uniprot.org/uniprot/Q969R2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969R2-2", "url": "https://www.uniprot.org/uniprot/Q969R2-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969R2-3", "url": "https://www.uniprot.org/uniprot/Q969R2-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969R2-4", "url": "https://www.uniprot.org/uniprot/Q969R2-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969R2-5", "url": "https://www.uniprot.org/uniprot/Q969R2-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969R2-6", "url": "https://www.uniprot.org/uniprot/Q969R2-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGKAAAPSRGGGCGGRSRGLSSLFTVVPCLSCHTAAPGMSASTSGSGPEPKPQPQPVPEPERGPLSEQVSEAVSEAVPRSEPVSETTSEPEPGAGQPSELLQGSRPGSESSSGVGAGPFTKAASEPLSRAVGSATFLRPESGSLPALKPLPLLRPGQAKTPLGVPMSGTGTTSSAPLALLPLDSFEGWLLKWTNYLKGYQRRWFVLGNGLLSYYRNQGEMAHTCRGTINLSTAHIDTEDSCGILLTSGARSYHLKASSEVDRQQWITALELAKAKAVRVMNTHSDDSGDDDEATTPADKSELHHTLKNLSLKLDDLSTCNDLIAKHGAALQRSLTELDGLKIPSESGEKLKVVNERATLFRITSNAMINACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDSRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKVMHSSPSSPSSDGKQKTVYQTLSAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPDQRLMEKGRWDEANTEKQRLEEKQRLSRRRRLEACGPGSSCSSEEEKEADAYTPLWFEKRLDPLTGEMACVYKGGYWEAKEKQDWHMCPNIF", "length": 916, "header": "sp|Q969R2-1|OSBP2_HUMAN Isoform 1 of Oxysterol-binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=2 CANONICAL=Q969R2-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MSB4-1", "url": "", "sequence": { "sequence": "MNTHSDDSGDDDEATTPADKSELHHTLKNLSLKLDDLSTCNDLIAKHGAALQRSLTELDGLKIPSESGEKLKVVNERATLFRITSNAMINACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGDLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKVMHSSPSSPSSDGKQKTVYQTLSAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPDQRLMEKGRWDEANTEKQRLEEKQRLSRRRRLEACGPGSSCSSEEEKEADAYTPLWFEKRLDPLTGEMACVYKGGYWEAKEKQDWHMCPNIF", "length": 636, "header": "tr|A0A0A0MSB4-1|OSBP2_HUMAN Computationally mapped isoform of Oxysterol-binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=1 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30906336, "end_pos": 30741354, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000403222.7", "url": "https://www.ensembl.org/id/ENST00000403222.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000384213.4", "url": "https://www.ensembl.org/id/ENSP00000384213.4" } ] } }, { "isoform_ac": "C9J7J0-1", "url": "", "sequence": { "sequence": "MINACRDFLELAEIHSRKWQRALQY", "length": 25, "header": "tr|C9J7J0-1|C9J7J0_HUMAN Computationally mapped isoform of Oxysterol binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=1 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30887491, "end_pos": 30870674, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445781.5", "url": "https://www.ensembl.org/id/ENST00000445781.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000411497.1", "url": "https://www.ensembl.org/id/ENSP00000411497.1" } ] } }, { "isoform_ac": "C9JS84-1", "url": "", "sequence": { "sequence": "MINACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDSRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPM", "length": 174, "header": "tr|C9JS84-1|C9JS84_HUMAN Computationally mapped isoform of Oxysterol binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=8 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30889633, "end_pos": 30870674, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424224.5", "url": "https://www.ensembl.org/id/ENST00000424224.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388575.1", "url": "https://www.ensembl.org/id/ENSP00000388575.1" } ] } }, { "isoform_ac": "H7C001-1", "url": "", "sequence": { "sequence": "XAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVSRTSHL", "length": 74, "header": "tr|H7C001-1|H7C001_HUMAN Computationally mapped isoform of Oxysterol binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=2 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30893755, "end_pos": 30893463, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433183.2", "url": "https://www.ensembl.org/id/ENST00000433183.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000392362.2", "url": "https://www.ensembl.org/id/ENSP00000392362.2" } ] } }, { "isoform_ac": "H7C1R2-1", "url": "", "sequence": { "sequence": "XHSENSRATPGACLSPQHSQDGAWRRPAAAEETLGVRDGHQACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHH", "length": 298, "header": "tr|H7C1R2-1|H7C1R2_HUMAN Computationally mapped isoform of Oxysterol binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=8 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30893134, "end_pos": 30881681, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453621.5", "url": "https://www.ensembl.org/id/ENST00000453621.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000401776.1", "url": "https://www.ensembl.org/id/ENSP00000401776.1" } ] } }, { "isoform_ac": "H7C313-1", "url": "", "sequence": { "sequence": "XHSENSRATPGACLSPQHSQDGAWRRPAAAEETLGVRDGHQACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDSRKAEGSTGTSSVDWSSADNGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRE", "length": 196, "header": "tr|H7C313-1|OSBP2_HUMAN Computationally mapped isoform of Oxysterol-binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=8 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30889616, "end_pos": 30881681, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454145.5", "url": "https://www.ensembl.org/id/ENST00000454145.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000409011.1", "url": "https://www.ensembl.org/id/ENSP00000409011.1" } ] } }, { "isoform_ac": "H7C368-1", "url": "", "sequence": { "sequence": "ACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDSRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKGERGEHVLLLRAGPDPQRARGGRSANRQPPAARPAADGEGPLGRGQYREAAAGGEAAPVAAPAAGGLRAGQQLQLGGREGGGCLHATVV", "length": 450, "header": "tr|H7C368-1|H7C368_HUMAN Computationally mapped isoform of Oxysterol-binding protein OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=1 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30906230, "end_pos": 30887426, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452656.5", "url": "https://www.ensembl.org/id/ENST00000452656.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000409838.1", "url": "https://www.ensembl.org/id/ENSP00000409838.1" } ] } }, { "isoform_ac": "H7C428-1", "url": "", "sequence": { "sequence": "XHSENSRATPGACLSPQHSQDGAWRRPAAAEETLGVRDGHQACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDSRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKVMHSSPSSPSSDGKQKTVYQTLSAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPDQRLMEKGRWDEANTEKQRLEEKQRLSRRRRLEACGPGSSCSSEEEKEADAYTPLWFEKRLDPLTGEMACVYKGGYWEAKEKQDWHMCPNIF", "length": 588, "header": "tr|H7C428-1|H7C428_HUMAN Computationally mapped isoform of Oxysterol-binding protein OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=1 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30906337, "end_pos": 30881681, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000431368.5", "url": "https://www.ensembl.org/id/ENST00000431368.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415274.1", "url": "https://www.ensembl.org/id/ENSP00000415274.1" } ] } }, { "isoform_ac": "Q6ZN50-1", "url": "", "sequence": { "sequence": "MSSLAAKRLGMNRRPAGSGGGGGEAATWGHRFWRPQERPTDRNQGEMAHTCRGTINLSTAHIDTEDSCGILLTSGARSYHLKASSEVDRQQWITALELAKAKAVRVMNTHSDDSGDDDEATTPADKSELHHTLKNLSLKLDDLSTCNDLIAKHGAALQRSLTELDGLKIPSESGEKLKVVNERATLFRITSNAMINACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDSRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKVMHSSPSSPSSDGKQKTVYQTLSAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPDQRLMEKGRWDEANTEKQRLEEKQRLSRRRRLEACGPGSSCSSEEEKEADAYTPLWFEKRLDPLTGEMACVYKGGYWEAKEKQDWHMCPNIF", "length": 743, "header": "tr|Q6ZN50-1|OSBP2_HUMAN Computationally mapped isoform of Oxysterol-binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=1 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30906336, "end_pos": 30694220, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407373.5", "url": "https://www.ensembl.org/id/ENST00000407373.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385237.1", "url": "https://www.ensembl.org/id/ENSP00000385237.1" } ] } }, { "isoform_ac": "Q969R2-1", "url": "", "sequence": { "sequence": "MGKAAAPSRGGGCGGRSRGLSSLFTVVPCLSCHTAAPGMSASTSGSGPEPKPQPQPVPEPERGPLSEQVSEAVSEAVPRSEPVSETTSEPEPGAGQPSELLQGSRPGSESSSGVGAGPFTKAASEPLSRAVGSATFLRPESGSLPALKPLPLLRPGQAKTPLGVPMSGTGTTSSAPLALLPLDSFEGWLLKWTNYLKGYQRRWFVLGNGLLSYYRNQGEMAHTCRGTINLSTAHIDTEDSCGILLTSGARSYHLKASSEVDRQQWITALELAKAKAVRVMNTHSDDSGDDDEATTPADKSELHHTLKNLSLKLDDLSTCNDLIAKHGAALQRSLTELDGLKIPSESGEKLKVVNERATLFRITSNAMINACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDSRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKVMHSSPSSPSSDGKQKTVYQTLSAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPDQRLMEKGRWDEANTEKQRLEEKQRLSRRRRLEACGPGSSCSSEEEKEADAYTPLWFEKRLDPLTGEMACVYKGGYWEAKEKQDWHMCPNIF", "length": 916, "header": "sp|Q969R2-1|OSBP2_HUMAN Isoform 1 of Oxysterol-binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=2 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30906336, "end_pos": 30694910, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000332585.11", "url": "https://www.ensembl.org/id/ENST00000332585.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000332576.6", "url": "https://www.ensembl.org/id/ENSP00000332576.6" } ] } }, { "isoform_ac": "Q969R2-2", "url": "", "sequence": { "sequence": "MGKAAAPSRGGGCGGRSRGLSSLFTVVPCLSCHTAAPGMSASTSGSGPEPKPQPQPVPEPERGPLSEQVSEAVSEAVPRSEPVSETTSEPEPGAGQPSELLQGSRPGSESSSGVGAGPFTKAASEPLSRAVGSATFLRPESGSLPALKPLPLLRPGQAKTPLGVPMSGTGTTSSAPLALLPLDSFEGWLLKWTNYLKGYQRRWFVLGNGLLSYYRNQGEMAHTCRGTINLSTAHIDTEDSCGILLTSGARSYHLKASSEVDRQQWITALELAKAKAVRVMNTHSDDSGDDDEATTPADKSELHHTLKNLSLKLDDLSTCNDLIAKHGAALQRSLTELDGLKIPSESGEKLKVVNERATLFRITSNAMINACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKVMHSSPSSPSSDGKQKTVYQTLSAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPDQRLMEKGRWDEANTEKQRLEEKQRLSRRRRLEACGPGSSCSSEEEKEADAYTPLWFEKRLDPLTGEMACVYKGGYWEAKEKQDWHMCPNIF", "length": 915, "header": "sp|Q969R2-2|OSBP2_HUMAN Isoform 2 of Oxysterol-binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=2 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30906336, "end_pos": 30694910, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446658.6", "url": "https://www.ensembl.org/id/ENST00000446658.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000392080.2", "url": "https://www.ensembl.org/id/ENSP00000392080.2" } ] } }, { "isoform_ac": "Q969R2-3", "url": "", "sequence": { "sequence": "MHRQRTRTMSSLAAKRLGMNRRPAGSGGGGGEAATWGHRFWRPQERPTDRNQGEMAHTCRGTINLSTAHIDTEDSCGILLTSGARSYHLKASSEVDRQQWITALELAKAKAVRVMNTHSDDSGDDDEATTPADKSELHHTLKNLSLKLDDLSTCNDLIAKHGAALQRSLTELDGLKIPSESGEKLKVVNERATLFRITSNAMINACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKVMHSSPSSPSSDGKQKTVYQTLSAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPDQRLMEKGRWDEANTEKQRLEEKQRLSRRRRLEACGPGSSCSSEEEKEADAYTPLWFEKRLDPLTGEMACVYKGGYWEAKEKQDWHMCPNIF", "length": 750, "header": "sp|Q969R2-3|OSBP2_HUMAN Isoform 3 of Oxysterol-binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=2 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30906336, "end_pos": 30694061, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438716.3", "url": "https://www.ensembl.org/id/ENST00000438716.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000411052.2", "url": "https://www.ensembl.org/id/ENSP00000411052.2" } ] } }, { "isoform_ac": "Q969R2-4", "url": "", "sequence": { "sequence": "MINACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKVMHSSPSSPSSDGKQKTVYQTLSAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPDQRLMEKGRWDEANTEKQRLEEKQRLSRRRRLEACGPGSSCSSEEEKEADAYTPLWFEKRLDPLTGEMACVYKGGYWEAKEKQDWHMCPNIF", "length": 549, "header": "sp|Q969R2-4|OSBP2_HUMAN Isoform 4 of Oxysterol-binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=2 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30906336, "end_pos": 30870674, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000401475.5", "url": "https://www.ensembl.org/id/ENST00000401475.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385254.1", "url": "https://www.ensembl.org/id/ENSP00000385254.1" } ] } }, { "isoform_ac": "Q969R2-5", "url": "", "sequence": { "sequence": "MEDSTSFITVITEAKEDRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKVMHSSPSSPSSDGKQKTVYQTLSAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPDQRLMEKGRWDEANTEKQRLEEKQRLSRRRRLEACGPGSSCSSEEEKEADAYTPLWFEKRLDPLTGEMACVYKGGYWEAKEKQDWHMCPNIF", "length": 460, "header": "sp|Q969R2-5|OSBP2_HUMAN Isoform 5 of Oxysterol-binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=2 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30906336, "end_pos": 30888288, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535268.5", "url": "https://www.ensembl.org/id/ENST00000535268.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000438713.1", "url": "https://www.ensembl.org/id/ENSP00000438713.1" } ] } }, { "isoform_ac": "Q969R2-6", "url": "", "sequence": { "sequence": "MKGRGCWDTASVRSFCSSGCLNKFKKDDSGDDDEATTPADKSELHHTLKNLSLKLDDLSTCNDLIAKHGAALQRSLTELDGLKIPSESGEKLKVVNERATLFRITSNAMINACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDSRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKVMHSSPSSPSSDGKQKTVYQTLSAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPDQRLMEKGRWDEANTEKQRLEEKQRLSRRRRLEACGPGSSCSSEEAEKEADAYTPLWFEKRLDPLTGEMACVYKGGYWEAKEKQDWHMCPNIF", "length": 659, "header": "sp|Q969R2-6|OSBP2_HUMAN Isoform 6 of Oxysterol-binding protein 2 OS=Homo sapiens OX=9606 GN=OSBP2 PE=1 SV=2 CANONICAL=Q969R2-1" }, "locus": { "chromosome": "22", "start_pos": 30906336, "end_pos": 30822631, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437268.6", "url": "https://www.ensembl.org/id/ENST00000437268.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000389200.2", "url": "https://www.ensembl.org/id/ENSP00000389200.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q969R2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q969R2" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "site_lbl": "Ser287" }, { "start_pos": 722, "end_pos": 722, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q969R2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969R2" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr722" }, { "start_pos": 763, "end_pos": 763, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q969R2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969R2" } ], "site_lbl": "Ser763" }, { "start_pos": 766, "end_pos": 766, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q969R2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969R2" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser766" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.", "journal": "DNA Res.", "date": "2001", "authors": "Hirosawa M, Nagase T, Murahashi Y, Kikuno R, Ohara O", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "reference": [ { "type": "PubMed", "id": "11258795", "url": "https://glygen.org/publication/PubMed/11258795" } ] }, { "title": "Molecular and biochemical characterization of a novel oxysterol-binding protein (OSBP2) highly expressed in retina.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Moreira EF, Jaworski C, Li A, Rodriguez IR", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "reference": [ { "type": "PubMed", "id": "11278871", "url": "https://glygen.org/publication/PubMed/11278871" } ] }, { "title": "The OSBP-related protein family in humans.", "journal": "J. Lipid Res.", "date": "2001", "authors": "Ehnholm C., Olkkonen V.M., Ikonen E., Laitinen S., Johansson M., Lehto M., Staels B., Chinetti G.", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "reference": [ { "type": "PubMed", "id": "11483621", "url": "https://glygen.org/publication/PubMed/11483621" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q969R2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969R2-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q969R2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969R2-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" }, { "database": "iPTMnet", "id": "Q969R2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969R2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q969R2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q969R2" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Golgi localization of oxysterol binding protein-related protein 4L (ORP4L) is regulated by ligand binding.", "journal": "Journal of cell science", "date": "2018", "authors": "Pietrangelo A, Ridgway ND", "evidence": [ { "database": "RefSeq", "id": "NP_001269667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667" } ], "reference": [ { "type": "PubMed", "id": "29930082", "url": "https://glygen.org/publication/PubMed/29930082" } ] }, { "title": "OSBP-related protein 4L promotes phospholipase Cbeta3 translocation from the nucleus to the plasma membrane in Jurkat T-cells.", "journal": "The Journal of biological chemistry", "date": "2018", "authors": "Pan G, Cao X, Liu B, Li C, Li D, Zheng J, Lai C, Olkkonen VM, Zhong W, Yan D", "evidence": [ { "database": "RefSeq", "id": "NP_001269667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667" } ], "reference": [ { "type": "PubMed", "id": "30237164", "url": "https://glygen.org/publication/PubMed/30237164" } ] }, { "title": "ORP4L couples IP3 to ITPR1 in control of endoplasmic reticulum calcium release.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2019", "authors": "Cao X, Chen J, Li D, Xie P, Xu M, Lin W, Li S, Pan G, Tang Y, Xu J, Olkkonen VM, Yan D, Zhong W", "evidence": [ { "database": "RefSeq", "id": "NP_001269667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667" } ], "reference": [ { "type": "PubMed", "id": "31648575", "url": "https://glygen.org/publication/PubMed/31648575" } ] }, { "title": "ORP4L is a prerequisite for the induction of T-cell leukemogenesis associated with human T-cell leukemia virus 1.", "journal": "Blood", "date": "2022", "authors": "Zhong W, Cao X, Pan G, Niu Q, Feng X, Xu M, Li M, Huang Y, Yi Q, Yan D", "evidence": [ { "database": "RefSeq", "id": "NP_001269667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269667" } ], "reference": [ { "type": "PubMed", "id": "34797912", "url": "https://glygen.org/publication/PubMed/34797912" } ] } ], "pathway": [ { "id": "hsa:23762", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23762", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I5ZR95-1", "protein_name": "Oxysterol-binding protein", "gene_name": "Osbp2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGKAAALSRGGGCAGRSRGLSSLFTVVPCLSCHTAAPGMNSSTLGSGPAPKPQFQPVQAPERELLSEQVCQPISEPRSEPGSQTTFVPQPLGAGQESESLGLWPGSGPNTKASPELPSPPRSTAESLPKPESKAGPKTQSVLRPGQSKTSAGSPVSGTSVPMVSPPLDSYKGWLFKWTNYLKGYQRRWFVLGNGLLSYYRCIQDGITESPLGRNQGEMAHTCRGTINLASAHFETEDSCGILLCNGARTYHLKASSEVDRQQWITVLELAKAKAIRVMNTQSDDSGDDDEEPAAPADNSDLHHTLKTLSLKLDDLGTCNDLIAKHGAALQRSLNELDSLKIPSESGEKLKVVNERATLFRITSNAMINACKDFLELAEIHSRKWQRALNYEQEQRVHLEETIEQLAKQHNSLERAFCNTPGGPASSSKSFSEGSFLTSKGENSEEDEDTEYFDAMEDSTSFITVITEAKEDRKPEGGPGTTSVDWTSADNVLDGASFMPKDSCKVKRRVRIPDKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVNCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRLEDMGLRSLCEQVSHHPPSAAHHVFSKHGWSLWQEITIASKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTKDRCQLKFVPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKIVHSSPSSDGKQKTVYQTLPAKLLWRKYPLPENAENMYYFSELALTLNEQEEGVAPTDSRLRPDQRLMERGRWDEANTEKQRLEEKQRLNRRRRLESCTAGCGGEEEKESDGYSPLWFEKRLDPLTGEMACIYKGGYWEAKEKKDWHMCPNIF", "length": 909 }, "evidence": [ { "id": "45234873", "url": "http://www.informatics.jax.org/homology/45234873", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P35845-1", "protein_name": "Oxysterol-binding protein homolog 1", "gene_name": "SWH1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MEQPDLSSVAISKPLLKLKLLDALRQGSFPNLQDLLKKQFQPLDDPNVQQVLHLMLHYAVQVAPMAVIKEIVHHWVSTTNTTFLNIHLDLNERDSNGNTPLHIAAYQSRGDIVAFLLDQPTINDCVLNNSHLQAIEMCKNLNIAQMMQVKRSTYVAETAQEFRTAFNNRDFGHLESILSSPRNAELLDINGMDPETGDTVLHEFVKKRDVIMCRWLLEHGADPFKRDRKGKLPIELVRKVNENDTATNTKIAIDIELKKLLERATREQSVIDVTNNNLHEAPTYKGYLKKWTNFAQGYKLRWFILSSDGKLSYYIDQADTKNACRGSLNMSSCSLHLDSSEKLKFEIIGGNNGVIRWHLKGNHPIETNRWVWAIQGAIRYAKDREILLHNGPYSPSLALSHGLSSKVSNKENLHATSKRLTKSPHLSKSTLTQNDHDNDDDSTNNNNNKSNNDYDDNNNNNNNDDDDYDDDDESRPLIEPLPLISSRSQSLSEITPGPHSRKSTVSSTRAADIPSDDEGYSEDDSDDDGNSSYTMENGGENDGDEDLNAIYGPYIQKLHMLQRSISIELASLNELLQDKQQHDEYWNTVNTSIETVSEFFDKLNRLTSQREKRMIAQMTKQRDVNNVWIQSVKDLEMELVDKDEKLVALDKERKNLKKMLQKKLNNQPQVETEANEESDDANSMIKGSQESTNTLEEIVKFIEATKESDEDSDADEFFDAEEAASDKKANDSEDLTTNKETPANAKPQEEAPEDESLIVISSPQVEKKNQLLKEGSFVGYEDPVRTKLALDEDNRPKIGLWSVLKSMVGQDLTKLTLPVSFNEPTSLLQRVSEDIEYSHILDQAATFEDSSLRMLYVAAFTASMYASTTNRVSKPFNPLLGETFEYARTDGQYRFFTEQVSHHPPISATWTESPKWDFYGECNVDSSFNGRTFAVQHLGLWYITIRPDHNISVPEETYSWKKPNNTVIGILMGKPQVDNSGDVKVTNHTTGDYCMLHYKAHGWTSAGAYEVRGEVFNKDDKKLWVLGGHWNDSIYGKKVTARGGELTLDRIKTANSATGGPKLDGSKFLIWKANERPSVPFNLTSFALTLNALPPHLIPYLAPTDSRLRPDQRAMENGEYDKAAAEKHRVEVKQRAAKKEREQKGEEYRPKWFVQEEHPVTKSLYWKFNGEYWNKRKNHDFKDCADIF", "length": 1188 }, "evidence": [ { "id": "Q969R2", "url": "https://omabrowser.org/oma/group/Q969R2/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q5QNQ6-1", "protein_name": "Oxysterol-binding protein 2", "gene_name": "Osbp2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGKAAALSRGGGCAGRSRGLSSLFTVVPCLSCHTAAPGMNSSAFGSGPASKPQLQPVQAPERELLSKQVCQPISEPASRSEPGSQTTSVPRPSGVGQESELQGLWPGSENGTRSVSIIKASPELAMPSPLQSTVGSLPVTKPESKLVPKTQSFLRQGQAKISVGTPVSGIGVQMVSPPLDSYKGWLLKWTNYLKGYQRRWFVLGNGLLSYYRNQGEMAHTCRATINLASTHFETEDSCGILLCNGARTYHLKASSEVDRQHWITALELAKAKAIRVMKTQSDDSGDDDEEPAAPADNSELHHTLKTLSLKLNDLSTCNDLIAKHGAALQRSLNELDSLKIPSECGEKLKVVNERATLFRITSNAMINACRDFLELAETHSRKWQRALNYEQEQRVHLEETIEQLAKQHNSLERAFCNTPGGPASSSKSFSEGSFLTSKGENSEEDEDTEYFDAMEDSTSFITVVTEAKEDRKPESGPGTTTVDWTSADNVLDGASFMPKNSCKVKRRVRIPDKPNYSLNLWSIMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVNCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFNPMLGETFELDRMEDMGLRSLCEQVSHHPPSAAHHVFSKHGWSLWQEITIASKFRGKYISIMPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTKDRCQLKFVPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSWDDQMECSKIVHSSPSSDGRQKTVYQTLPAKLLWRKYPLPENAENMYYFSELALTLNEQEDGVAPTDSRLRPDQRLMERGRWDEANTEKQRLEEKQRLSRRRRLESCTAGCGGEEEKESDGYVPLWFEKRLDPLTGEMACMYKGGYWEAKEKKDWHMCPNIF", "length": 908 }, "evidence": [ { "id": "45234873", "url": "http://www.informatics.jax.org/homology/45234873", "database": "MGI" }, { "id": "Q969R2", "url": "https://omabrowser.org/oma/group/Q969R2/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "pmid": "" }, { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "pmid": "" }, { "name": "sterol transporter activity", "id": "GO:0015248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015248", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "pmid": "" }, { "name": "apical dendrite", "id": "GO:0097440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097440", "evidence": [ { "database": "UniProtKB", "id": "Q969R2", "url": "https://www.uniprot.org/uniprot/Q969R2" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 229, "end_pos": 231, "annotation": "n_glycosylation_sequon" }, { "start_pos": 308, "end_pos": 310, "annotation": "n_glycosylation_sequon" }, { "start_pos": 518, "end_pos": 520, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { 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