{ "uniprot_canonical_ac": "O76090-1", "uniprot_ac": "O76090", "uniprot_id": "BEST1_HUMAN", "mass": { "chemical_mass": 67684.0, "monoisotopic_mass": 67684.0 }, "refseq": { "ac": "NP_001132915", "name": "bestrophin-1 isoform 2", "summary": "This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132915" }, "gene_names": [ { "name": "BEST1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O76090", "id": "O76090" }, { "name": "ARB; BEST; Best1V1Delta2; BMD; RP50; TU15B; VMD2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132915", "id": "NP_001132915" }, { "name": "BEST1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132915", "id": "NP_001132915" }, { "name": "VMD2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O76090", "id": "O76090" } ], "protein_names": [ { "name": "Bestrophin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O76090" }, { "name": "Best disease; vitelliform macular dystrophy protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132915", "id": "NP_001132915" }, { "name": "TU15B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76090" }, { "name": "Vitelliform macular dystrophy protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76090" }, { "name": "bestrophin-1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132915", "id": "NP_001132915" } ], "function": [ { "annotation": "A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001132915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132915" }, { "database": "PubMed", "id": "36527004", "url": "https://glygen.org/publication/PubMed/36527004" } ] }, { "annotation": "Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_001132915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132915" }, { "database": "PubMed", "id": "37747403", "url": "https://glygen.org/publication/PubMed/37747403" } ] }, { "annotation": "Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090#function" }, { "database": "PubMed", "id": "18400985", "url": "https://glygen.org/publication/PubMed/18400985" }, { "database": "PubMed", "id": "11904445", "url": "https://glygen.org/publication/PubMed/11904445" }, { "database": "PubMed", "id": "12907679", "url": "https://glygen.org/publication/PubMed/12907679" } ] }, { "annotation": "Forms calcium-sensitive chloride channels. Permeable to bicarbonate.", "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DGE9", "url": "https://www.uniprot.org/uniprot/A0A0C4DGE9#function" }, { "database": "UniProtKB", "id": "RU363126", "url": "https://www.uniprot.org/uniprot/RU363126#function" }, { "database": "UniProtKB", "id": "B7Z1N8", "url": "https://www.uniprot.org/uniprot/B7Z1N8#function" } ] }, { "annotation": "Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_001132915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132915" }, { "database": "PubMed", "id": "36450205", "url": "https://glygen.org/publication/PubMed/36450205" } ] }, { "annotation": "This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001132915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132915" } ] } ], "disease": [ { "disease_id": "DOID:0050661", "recommended_name": { "id": "DOID:0050661", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050661", "name": "vitelliform macular dystrophy", "description": "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss." }, "synonyms": [ { "id": "DOID:0050661", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050661", "name": "Best disease", "description": "" }, { "id": "DOID:0050661", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050661", "name": "Best macular dystrophy", "description": "" }, { "id": "DOID:0050661", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050661", "name": "juvenile-onset vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "vitelliform macular dystrophy 4", "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene." }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "IMPG1 vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "macular dystrophy, vitelliform, 4", "description": "" }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "macular dystrophy, vitelliform, type 4", "description": "" }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "vitelliform macular dystrophy caused by mutation in IMPG1", "description": "" }, { "id": "MONDO:0014508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014508", "name": "VMD4", "description": "" }, { "id": "MONDO:0007933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007933", "name": "vitelliform macular dystrophy 1", "description": "" }, { "id": "MONDO:0007933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007933", "name": "VMD1", "description": "" }, { "id": "MONDO:0007933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007933", "name": "macular dystrophy, atypical vitelliform", "description": "" }, { "id": "MONDO:0007933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007933", "name": "macular dystrophy, vitelliform, 1", "description": "" }, { "id": "MONDO:0007933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007933", "name": "vitelliform macular dystrophy, atypical", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "vitelliform macular dystrophy 2", "description": "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region." }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "BEST1 retinopathy", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "BMD", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "BVMD", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "Best disease", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "Best macular dystrophy", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "early-onset vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "juvenile-onset vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "macular degeneration, polymorphic vitelline", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "macular dystrophy, vitelliform, type 2", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "polymorphic vitelline macular degeneration", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "vitelliform macular dystrophy type 2", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "vitelliform macular dystrophy, early-onset", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "vitelliform macular dystrophy, juvenile-onset", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "vitelliform macular dystrophy, type 2", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "Best vitelliform macular dystrophy, multifocal", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "VMD2", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "macular Degeneration, polymorphic vitelline", "description": "" }, { "id": "MONDO:0007931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007931", "name": "macular dystrophy, vitelliform, 2", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "vitelliform macular dystrophy 3", "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "PRPH2 vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "vitelliform macular dystrophy caused by mutation in PRPH2", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "VMD3", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "foveomacular dystrophy, adult-onset", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "foveomacular dystrophy, adult-onset, with or without choroidal neovascularization", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "macular dystrophy, vitelliform, 3", "description": "" }, { "id": "MONDO:0024561", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024561", "name": "vitelliform macular dystrophy, adult-onset", "description": "" }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "vitelliform macular dystrophy 5", "description": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene." }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "IMPG2 vitelliform macular dystrophy", "description": "" }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "macular dystrophy, vitelliform, 5", "description": "" }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "macular dystrophy, vitelliform, type 5", "description": "" }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "vitelliform macular dystrophy caused by mutation in IMPG2", "description": "" }, { "id": "MONDO:0014509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014509", "name": "VMD5", "description": "" }, { "id": "MIM:616151", "resource": "MIM", "url": "https://www.omim.org/entry/616151", "name": "Macular dystrophy, vitelliform, 4", "description": "Macular dystrophy, vitelliform, 4" }, { "id": "MIM:153700", "resource": "MIM", "url": "https://www.omim.org/entry/153700", "name": "Macular dystrophy, vitelliform, 2", "description": "Macular dystrophy, vitelliform, 2" }, { "id": "MIM:608161", "resource": "MIM", "url": "https://www.omim.org/entry/608161", "name": "Macular dystrophy, vitelliform, 3", "description": "Macular dystrophy, vitelliform, 3" }, { "id": "MIM:616152", "resource": "MIM", "url": "https://www.omim.org/entry/616152", "name": "Macular dystrophy, vitelliform, 5", "description": "Macular dystrophy, vitelliform, 5" } ], "evidence": [ { "id": "153700", "database": "MIM", "url": "https://www.omim.org/entry/153700" } ] }, { "disease_id": "DOID:0050662", "recommended_name": { "id": "DOID:0050662", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050662", "name": "bestrophinopathy", "description": "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12." }, "synonyms": [ { "id": "DOID:0050662", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050662", "name": "autosomal recessive bestrophinopathy", "description": "" }, { "id": "MONDO:0012733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012733", "name": "autosomal recessive bestrophinopathy", "description": "Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)." }, { "id": "MONDO:0012733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012733", "name": "bestrophinopathy", "description": "" }, { "id": "MONDO:0012733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012733", "name": "retinopathy, Burgess-Black type", "description": "" }, { "id": "MONDO:0012733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012733", "name": "ARB", "description": "" }, { "id": "MONDO:0012733", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012733", "name": "bestrophinopathy, autosomal recessive", "description": "" }, { "id": "MIM:611809", "resource": "MIM", "url": "https://www.omim.org/entry/611809", "name": "Bestrophinopathy, autosomal recessive", "description": "Bestrophinopathy, autosomal recessive" } ], "evidence": [ { "id": "611809", "database": "MIM", "url": "https://www.omim.org/entry/611809" } ] }, { "disease_id": "DOID:0110396", "recommended_name": { "id": "DOID:0110396", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110396", "name": "retinitis pigmentosa 50", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13." }, "synonyms": [ { "id": "DOID:0110396", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110396", "name": "RP50", "description": "" }, { "id": "MONDO:0013175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013175", "name": "retinitis pigmentosa 50", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene." }, { "id": "MONDO:0013175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013175", "name": "BEST1 retinitis pigmentosa", "description": "" }, { "id": "MONDO:0013175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013175", "name": "RP50", "description": "" }, { "id": "MONDO:0013175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013175", "name": "retinitis pigmentosa 50", "description": "" }, { "id": "MONDO:0013175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013175", "name": "retinitis pigmentosa caused by mutation in BEST1", "description": "" }, { "id": "MONDO:0013175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013175", "name": "retinitis pigmentosa type 50", "description": "" }, { "id": "MONDO:0013175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013175", "name": "retinitis pigmentosa-50", "description": "" }, { "id": "MONDO:0013175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013175", "name": "retinitis pigmentosa, concentric", "description": "" }, { "id": "MIM:613194", "resource": "MIM", "url": "https://www.omim.org/entry/613194", "name": "Retinitis pigmentosa 50", "description": "Retinitis pigmentosa 50" } ], "evidence": [ { "id": "613194", "database": "MIM", "url": "https://www.omim.org/entry/613194" } ] }, { "disease_id": "DOID:0111569", "recommended_name": { "id": "DOID:0111569", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111569", "name": "autosomal dominant vitreoretinochoroidopathy", "description": "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3." }, "synonyms": [ { "id": "DOID:0111569", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111569", "name": "ADVIRC", "description": "" }, { "id": "DOID:0111569", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111569", "name": "VRCP autosomal dominant", "description": "" }, { "id": "DOID:0111569", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111569", "name": "vitreoretinochoroidopathy dominant", "description": "" }, { "id": "DOID:0111569", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111569", "name": "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos", "description": "" }, { "id": "DOID:0111569", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111569", "name": "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract", "description": "" }, { "id": "MONDO:0008662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008662", "name": "autosomal dominant vitreoretinochoroidopathy", "description": "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees." }, { "id": "MONDO:0008662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008662", "name": "ADVIRC", "description": "" }, { "id": "MONDO:0008662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008662", "name": "VRCP", "description": "" }, { "id": "MONDO:0008662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008662", "name": "VRCP autosomal dominant", "description": "" }, { "id": "MONDO:0008662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008662", "name": "microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma", "description": "" }, { "id": "MONDO:0008662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008662", "name": "vitreoretinochoroidopathy", "description": "" }, { "id": "MONDO:0008662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008662", "name": "vitreoretinochoroidopathy dominant", "description": "" }, { "id": "MONDO:0008662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008662", "name": "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract", "description": "" }, { "id": "MONDO:0008662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008662", "name": "vitreoretinochoroidopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0008662", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008662", "name": "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos", "description": "" }, { "id": "MIM:193220", "resource": "MIM", "url": "https://www.omim.org/entry/193220", "name": "Vitreoretinochoroidopathy", "description": "Vitreoretinochoroidopathy" } ], "evidence": [ { "id": "193220", "database": "MIM", "url": "https://www.omim.org/entry/193220" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "69.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "59.84", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "72.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "82.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "71.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "65.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "75.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167995", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167995" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O76090", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76090" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76090" } ], "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": "O76090", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76090" } ], "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", 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"ENSP00000367282.4", "url": "https://www.ensembl.org/id/ENSP00000367282.4" } ] } }, { "isoform_ac": "O76090-3", "url": "", "sequence": { "sequence": "MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQGRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNMFWVPWVWFANLSMKAWLGGRIRDPILLQSLLNEMNTLRTQCGHLYAYDWISIPLVYTQVVTVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQFFFYVGWLKVAEQLINPFGEDDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRASFMGSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESLLHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFPLEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFNLTDMPEIPENHLKEPLEQSPTNIHTTLKDHMDPYWALENRSVLHLNQGHCIALCPTPASLALSLPFLHNFLGFHHCQSTLDLRPALAWGIYLATFTGILGKCSGPFLTSPWYHPEDFLGPGEGR", "length": 604, "header": "sp|O76090-3|BEST1_HUMAN Isoform 3 of Bestrophin-1 OS=Homo sapiens OX=9606 GN=BEST1 PE=1 SV=1 CANONICAL=O76090-1" }, "locus": { "chromosome": "11", "start_pos": 61963146, "end_pos": 61955135, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449131.6", "url": "https://www.ensembl.org/id/ENST00000449131.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000399709.2", "url": "https://www.ensembl.org/id/ENSP00000399709.2" } ] } }, { "isoform_ac": "O76090-4", "url": "", "sequence": { "sequence": "MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQGRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNMFWVPWVWFANLSMKAWLGGRIRDPILLQSLLNEMNTLRTQCGHLYAYDWISIPLVYTQVVTVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQFFFYVGWLKVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRASFMGSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESLLHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFPLEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFNLTDMPEIPENHLKEPLEQSPTNIHTTLKDHMDPYWALENRDEAHS", "length": 498, "header": "sp|O76090-4|BEST1_HUMAN Isoform 4 of Bestrophin-1 OS=Homo sapiens OX=9606 GN=BEST1 PE=1 SV=1 CANONICAL=O76090-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 358, "end_pos": 358, "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O76090", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76090" }, { "database": "PubMed", "id": "19635817", "url": "https://glygen.org/publication/PubMed/19635817" } ], "site_lbl": "Ser358" }, { "start_pos": 358, "end_pos": 358, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O76090", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76090" }, { "database": "PubMed", "id": "19635817", "url": "https://glygen.org/publication/PubMed/19635817" }, { "database": "PubMed", "id": "29121962", "url": "https://glygen.org/publication/PubMed/29121962" } ], "site_lbl": "Ser358" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.", "journal": "Genomics", "date": "1999", "authors": "Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "10331951", "url": "https://glygen.org/publication/PubMed/10331951" } ] }, { "title": "The mutation spectrum of the bestrophin protein--functional implications.", "journal": "Human genetics", "date": "1999", "authors": "Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AA, Andreasson S, Rosenberg T, Petrukhin K, Wadelius C", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "10394929", "url": "https://glygen.org/publication/PubMed/10394929" } ] }, { "title": "Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.", "journal": "Human genetics", "date": "1999", "authors": "Allikmets R, Seddon JM, Bernstein PS, Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker ML, Wadelius C, Caskey CT, Dean M, Petrukhin K", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "10453731", "url": "https://glygen.org/publication/PubMed/10453731" } ] }, { "title": "Identification of an acid-activated Cl(-) channel from human skeletal muscles.", "journal": "The American journal of physiology", "date": "1999", "authors": "Kawasaki M, Fukuma T, Yamauchi K, Sakamoto H, Marumo F, Sasaki S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10564087", "url": "https://glygen.org/publication/PubMed/10564087" } ] }, { "title": "Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits.", "journal": "The Biochemical journal", "date": "2000", "authors": "Farr TJ, Coddington-Lawson SJ, Snyder PM, McDonald FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10642508", "url": "https://glygen.org/publication/PubMed/10642508" } ] }, { "title": "A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.", "journal": "American journal of ophthalmology", "date": "2000", "authors": "Palomba G, Rozzo C, Angius A, Pierrottet CO, Orzalesi N, Pirastu M", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "10682987", "url": "https://glygen.org/publication/PubMed/10682987" } ] }, { "title": "Regulation of the epithelial Na+ channel by Nedd4 and ubiquitination.", "journal": "Kidney international", "date": "2000", "authors": "Staub O, Abriel H, Plant P, Ishikawa T, Kanelis V, Saleki R, Horisberger JD, Schild L, Rotin D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10720933", "url": "https://glygen.org/publication/PubMed/10720933" } ] }, { "title": "Mutation analysis of 3 genes in patients with Leber congenital amaurosis.", "journal": "Archives of ophthalmology (Chicago, Ill. : 1960)", "date": "2000", "authors": "Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Heon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "10766140", "url": "https://glygen.org/publication/PubMed/10766140" } ] }, { "title": "Molecular cloning, functional expression and chromosomal localization of an amiloride-sensitive Na(+) channel from human small intestine.", "journal": "FEBS letters", "date": "2000", "authors": "Schaefer L, Sakai H, Mattei M, Lazdunski M, Lingueglia E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10767424", "url": "https://glygen.org/publication/PubMed/10767424" } ] }, { "title": "Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.", "journal": "Investigative ophthalmology & visual science", "date": "2000", "authors": "Lotery AJ, Munier FL, Fishman GA, Weleber RG, Jacobson SG, Affatigato LM, Nichols BE, Schorderet DF, Sheffield VC, Stone EM", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "10798642", "url": "https://glygen.org/publication/PubMed/10798642" } ] }, { "title": "PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts.", "journal": "Cell", "date": "2000", "authors": "Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, Marks AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10830164", "url": "https://glygen.org/publication/PubMed/10830164" } ] }, { "title": "Functional and structural analysis of ClC-K chloride channels involved in renal disease.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Waldegger S, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10831588", "url": "https://glygen.org/publication/PubMed/10831588" } ] }, { "title": "Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.", "journal": "European journal of human genetics : EJHG", "date": "2000-04", "authors": "Kr\u00e4mer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Sch\u00fctt F, Holz F G, Weber B H", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "10854112", "url": "https://glygen.org/publication/PubMed/10854112" } ] }, { "title": "Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus.", "journal": "Neuron", "date": "2001", "authors": "Stobrawa SM, Breiderhoff T, Takamori S, Engel D, Schweizer M, Zdebik AA, Bosl MR, Ruether K, Jahn H, Draguhn A, Jahn R, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11182090", "url": "https://glygen.org/publication/PubMed/11182090" } ] }, { "title": "Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.", "journal": "Human mutation", "date": "2001", "authors": "Marchant D, Gogat K, Boutboul S, Pequignot M, Sternberg C, Dureau P, Roche O, Uteza Y, Hache JC, Puech B, Puech V, Dumur V, Mouillon M, Munier FL, Schorderet DF, Marsac C, Dufier JL, Abitbol M", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "11241846", "url": "https://glygen.org/publication/PubMed/11241846" } ] }, { "title": "Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.", "journal": "Ophthalmic genetics", "date": "2001", "authors": "Eksandh L, Bakall B, Bauer B, Wadelius C, Andreasson S", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "11449320", "url": "https://glygen.org/publication/PubMed/11449320" } ] }, { "title": "Nonsteroid anti-inflammatory drugs inhibit both the activity and the inflammation-induced expression of acid-sensing ion channels in nociceptors.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2001", "authors": "Voilley N, de Weille J, Mamet J, Lazdunski M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11588175", "url": "https://glygen.org/publication/PubMed/11588175" } ] }, { "title": "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.", "journal": "Nature genetics", "date": "2001", "authors": "Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11687798", "url": "https://glygen.org/publication/PubMed/11687798" } ] }, { "title": "Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.", "journal": "Nature", "date": "2001", "authors": "Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11734858", "url": "https://glygen.org/publication/PubMed/11734858" } ] }, { "title": "A calcium-activated chloride channel (HCLCA1) is strongly related to IL-9 expression and mucus production in bronchial epithelium of patients with asthma.", "journal": "The Journal of allergy and clinical immunology", "date": "2002", "authors": "Toda M, Tulic MK, Levitt RC, Hamid Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11842292", "url": "https://glygen.org/publication/PubMed/11842292" } ] }, { "title": "The vitelliform macular dystrophy protein defines a new family of chloride channels.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Sun H, Tsunenari T, Yau KW, Nathans J", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" }, { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11904445", "url": "https://glygen.org/publication/PubMed/11904445" } ] }, { "title": "Increased expression of the human Ca2+-activated Cl- channel 1 (CaCC1) gene in the asthmatic airway.", "journal": "American journal of respiratory and critical care medicine", "date": "2002", "authors": "Hoshino M, Morita S, Iwashita H, Sagiya Y, Nagi T, Nakanishi A, Ashida Y, Nishimura O, Fujisawa Y, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11956057", "url": "https://glygen.org/publication/PubMed/11956057" } ] }, { "title": "Identification of a novel VMD2 mutation in Japanese patients with Best disease.", "journal": "Ophthalmic genetics", "date": "2002", "authors": "Yanagi Y, Sekine H, Mori M", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "12187431", "url": "https://glygen.org/publication/PubMed/12187431" } ] }, { "title": "Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.", "journal": "Ophthalmic genetics", "date": "2002", "authors": "Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S, Dollfus H, Brasseur G, Hache JC, Dumur V, Puech V, Munier F, Schorderet DF, Marsac C, Menasche M, Dufier JL, Abitbol M", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "12324875", "url": "https://glygen.org/publication/PubMed/12324875" } ] }, { "title": "Amiloride-blockable acid-sensing ion channels are leading acid sensors expressed in human nociceptors.", "journal": "The Journal of clinical investigation", "date": "2002", "authors": "Ugawa S, Ueda T, Ishida Y, Nishigaki M, Shibata Y, Shimada S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "12393854", "url": "https://glygen.org/publication/PubMed/12393854" } ] }, { "title": "Structure-function analysis of the bestrophin family of anion channels.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" }, { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "12907679", "url": "https://glygen.org/publication/PubMed/12907679" } ] }, { "title": "Phenotype and genotype correlations in two best families.", "journal": "Ophthalmology", "date": "2003", "authors": "Seddon JM, Sharma S, Chong S, Hutchinson A, Allikmets R, Adelman RA", "evidence": [ { "database": "UniProtKB", "id": "O76090", "url": "https://www.uniprot.org/uniprot/O76090" } ], "reference": [ { "type": "PubMed", "id": "13129869", "url": "https://glygen.org/publication/PubMed/13129869" } ] }, { "title": "The skeletal muscle chloride channel in dominant and recessive human myotonia.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "1379744", "url": 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