{ "uniprot_canonical_ac": "O95864-1", "uniprot_ac": "O95864", "uniprot_id": "FADS2_HUMAN", "mass": { "chemical_mass": 52259.0, "monoisotopic_mass": 52259.0 }, "refseq": { "ac": "NP_001268430", "name": "acyl-CoA 6-desaturase isoform 2", "summary": "The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" }, "gene_names": [ { "name": "FADS2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95864", "id": "O95864" }, { "name": "D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430", "id": "NP_001268430" }, { "name": "FADS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430", "id": "NP_001268430" } ], "protein_names": [ { "name": "Acyl-CoA 6-desaturase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95864" }, { "name": "1.14.19.3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95864" }, { "name": "D6D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95864" }, { "name": "Delta(6) desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95864" }, { "name": "Delta(6) fatty acid desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95864" }, { "name": "Delta-6 desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95864" }, { "name": "Fatty acid desaturase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95864" }, { "name": "acyl-CoA 6-desaturase isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430", "id": "NP_001268430" }, { "name": "delta-6 fatty acid desaturase; linoleoyl-CoA desaturase (delta-6-desaturase)-like 2; acyl-CoA 6-desaturase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430", "id": "NP_001268430" } ], "function": [ { "annotation": "Data indicate that the 5'-flanking region of the human D6D gene contains a DR-1 that functions in the regulation of human D6D gene transcription, and thereby plays a role in the synthesis of 20- and 22-carbon polyenoic fatty acids", "evidence": [ { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" }, { "database": "PubMed", "id": "12562861", "url": "https://glygen.org/publication/PubMed/12562861" } ] }, { "annotation": "Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.", "evidence": [ { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" }, { "database": "PubMed", "id": "36864135", "url": "https://glygen.org/publication/PubMed/36864135" } ] }, { "annotation": "Hsa_circ_0000073 promotes lipid synthesis of osteosarcoma through hsa-miR-1184/ FADS2 pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" }, { "database": "PubMed", "id": "37506860", "url": "https://glygen.org/publication/PubMed/37506860" } ] }, { "annotation": "Involved in the biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors, acting as a fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 6 of the fatty acyl chain. Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleate (GLA) (18:3n-6) and stearidonate (18:4n-3), respectively (PubMed:12713571). Subsequently, in the biosynthetic pathway of HUFA n-3 series, it desaturates tetracosapentaenoate (24:5n-3) to tetracosahexaenoate (24:6n-3), which is then converted to docosahexaenoate (DHA)(22:6n-3), an important lipid for nervous system function (By similarity). Desaturates hexadecanate (palmitate) to produce 6Z-hexadecenoate (sapienate), a fatty acid unique to humans and major component of human sebum, that has been implicated in the development of acne and may have potent antibacterial activity (PubMed:12713571). It can also desaturate (11E)-octadecenoate (trans-vaccenoate, the predominant trans fatty acid in human milk) at carbon 6 generating (6Z,11E)-octadecadienoate (By similarity). In addition to Delta-6 activity, this enzyme exhibits Delta-8 activity with slight biases toward n-3 fatty acyl-CoA substrates (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864#function" }, { "database": "PubMed", "id": "12713571", "url": "https://glygen.org/publication/PubMed/12713571" }, { "database": "UniProtKB", "id": "Q9Z122", "url": "https://www.uniprot.org/uniprot/Q9Z122#function" }, { "database": "UniProtKB", "id": "B8R1K0", "url": "https://www.uniprot.org/uniprot/B8R1K0#function" } ] }, { "annotation": "Meication of suppression by highly unsaturated fatty acids mediated by E-box like sterol regulatory element", "evidence": [ { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" }, { "database": "PubMed", "id": "12147235", "url": "https://glygen.org/publication/PubMed/12147235" } ] }, { "annotation": "Placental expression of Fatty Acid Desaturases 1, 2 and 3 in selected pregnancy pathologies.", "evidence": [ { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" }, { "database": "PubMed", "id": "36652541", "url": "https://glygen.org/publication/PubMed/36652541" } ] }, { "annotation": "The integrative panel of fatty acid desaturase-2 (FADS2) rs174583 gene polymorphism and dietary indices (DQI-I and HEI) affects cardiovascular risk factors among obese individuals. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" }, { "database": "PubMed", "id": "36788508", "url": "https://glygen.org/publication/PubMed/36788508" } ] }, { "annotation": "The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" } ] }, { "annotation": "The role of fatty acid desaturase 2 in multiple tumor types revealed by bulk and single-cell transcriptomes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" }, { "database": "PubMed", "id": "36788618", "url": "https://glygen.org/publication/PubMed/36788618" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "78.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "67.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "90.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "87.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "78.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "79.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "74.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000134824", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134824" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95864", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95864" } ], "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 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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, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95864", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95864" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95864", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95864" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95864", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95864" } ], "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": "O95864", "url": 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"https://www.uniprot.org/uniprot/E5RHL3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHL3-1", "url": "https://www.uniprot.org/uniprot/E5RHL3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95864-1", "url": "https://www.uniprot.org/uniprot/O95864-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95864-2", "url": "https://www.uniprot.org/uniprot/O95864-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95864-3", "url": "https://www.uniprot.org/uniprot/O95864-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95864-4", "url": "https://www.uniprot.org/uniprot/O95864-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVYNITKWSIQHPGGQRVIGHYAGEDATDAFRAFHPDLEFVGKFLKPLLIGELAPEEPSQDHGKNSKITEDFRALRKTAEDMNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIPTLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHFQHHAKPNIFHKDPDVNMLHVFVLGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIPMYFQYQIIMTMIVHKNWVDLAWAVSYYIRFFITYIPFYGILGALLFLNFIRFLESHWFVWVTQMNHIVMEIDQEAYRDWFSSQLTATCNVEQSFFNDWFSGHLNFQIEHHLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK", "length": 444, "header": "sp|O95864-1|FADS2_HUMAN Isoform 1 of Acyl-CoA 6-desaturase OS=Homo sapiens OX=9606 GN=FADS2 PE=1 SV=1 CANONICAL=O95864-1" }, "isoforms": [ { "isoform_ac": "E5RGD8-1", "url": "", "sequence": { "sequence": "MNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIPTLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNH", "length": 93, "header": "tr|E5RGD8-1|FADS2_HUMAN Computationally mapped isoform of Acyl-CoA 6-desaturase OS=Homo sapiens OX=9606 GN=FADS2 PE=1 SV=1 CANONICAL=O95864-1" }, "locus": { "chromosome": "11", "start_pos": 61848185, "end_pos": 61840382, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517312.5", "url": "https://www.ensembl.org/id/ENST00000517312.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430225.1", "url": "https://www.ensembl.org/id/ENSP00000430225.1" } ] } }, { "isoform_ac": "E5RGZ5-1", "url": "", "sequence": { "sequence": "MNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIPTLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHFQHHAKPN", "length": 103, "header": "tr|E5RGZ5-1|FADS2_HUMAN Computationally mapped isoform of Acyl-CoA 6-desaturase OS=Homo sapiens OX=9606 GN=FADS2 PE=1 SV=1 CANONICAL=O95864-1" }, "locus": { "chromosome": "11", "start_pos": 61848215, "end_pos": 61840382, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518606.5", "url": "https://www.ensembl.org/id/ENST00000518606.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430054.1", "url": "https://www.ensembl.org/id/ENSP00000430054.1" } ] } }, { "isoform_ac": "E5RHL3-1", "url": "", "sequence": { "sequence": "MTREPPGCRRVNSLMLYTLRSITSHRSSHPERWATSSQKRKKKTLMPIVMKP", "length": 52, "header": "tr|E5RHL3-1|E5RHL3_HUMAN Computationally mapped isoform of Fatty acid desaturase 2 OS=Homo sapiens OX=9606 GN=FADS2 PE=4 SV=1 CANONICAL=O95864-1" }, "locus": { "chromosome": "11", "start_pos": 61821422, "end_pos": 61816583, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517839.1", "url": "https://www.ensembl.org/id/ENST00000517839.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000429693.1", "url": "https://www.ensembl.org/id/ENSP00000429693.1" } ] } }, { "isoform_ac": "O95864-1", "url": "", "sequence": { "sequence": "MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVYNITKWSIQHPGGQRVIGHYAGEDATDAFRAFHPDLEFVGKFLKPLLIGELAPEEPSQDHGKNSKITEDFRALRKTAEDMNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIPTLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHFQHHAKPNIFHKDPDVNMLHVFVLGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIPMYFQYQIIMTMIVHKNWVDLAWAVSYYIRFFITYIPFYGILGALLFLNFIRFLESHWFVWVTQMNHIVMEIDQEAYRDWFSSQLTATCNVEQSFFNDWFSGHLNFQIEHHLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK", "length": 444, "header": "sp|O95864-1|FADS2_HUMAN Isoform 1 of Acyl-CoA 6-desaturase OS=Homo sapiens OX=9606 GN=FADS2 PE=1 SV=1 CANONICAL=O95864-1" }, "locus": { "chromosome": "11", "start_pos": 61865686, "end_pos": 61828391, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000278840.9", "url": "https://www.ensembl.org/id/ENST00000278840.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000278840.4", "url": "https://www.ensembl.org/id/ENSP00000278840.4" } ] } }, { "isoform_ac": "O95864-2", "url": "", "sequence": { "sequence": "MHGREAGPFVCVCVLLASIPTPQTPLLQASLPPFHPASAGHPITGQQDAFRAFHPDLEFVGKFLKPLLIGELAPEEPSQDHGKNSKITEDFRALRKTAEDMNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIPTLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHFQHHAKPNIFHKDPDVNMLHVFVLGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIPMYFQYQIIMTMIVHKNWVDLAWAVSYYIRFFITYIPFYGILGALLFLNFIRFLESHWFVWVTQMNHIVMEIDQEAYRDWFSSQLTATCNVEQSFFNDWFSGHLNFQIEHHLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK", "length": 422, "header": "sp|O95864-2|FADS2_HUMAN Isoform 2 of Acyl-CoA 6-desaturase OS=Homo sapiens OX=9606 GN=FADS2 PE=1 SV=1 CANONICAL=O95864-1" }, "locus": { "chromosome": "11", "start_pos": 61865686, "end_pos": 61816286, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000257261.10", "url": "https://www.ensembl.org/id/ENST00000257261.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000257261.6", "url": "https://www.ensembl.org/id/ENSP00000257261.6" } ] } }, { "isoform_ac": "O95864-3", "url": "", "sequence": { "sequence": "MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVYNITKWSIQHPGGQRVIGHYAGEDATDAFRAFHPDLEFVGKFLKPLLIGELAPEEPSQDHGKNSKITEDFRALRKTAEDMNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIPTLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHFQHHAKPNIFHKDPDVNMLHVFVLGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIPMYFQYQIIMTMIVHKNWVDLAWAVSYYIRFFITYIPFYGILGALLFLNFIRFLESHWFVWVTQMNHIVMEIDQEAYRDWFSSQLTATCNVEQSFFNDWFSGHLNFQIEHQ", "length": 386, "header": "sp|O95864-3|FADS2_HUMAN Isoform 3 of Acyl-CoA 6-desaturase OS=Homo sapiens OX=9606 GN=FADS2 PE=1 SV=1 CANONICAL=O95864-1" }, "locus": { "chromosome": "11", "start_pos": 61863787, "end_pos": 61828391, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521849.5", "url": "https://www.ensembl.org/id/ENST00000521849.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431091.1", "url": "https://www.ensembl.org/id/ENSP00000431091.1" } ] } }, { "isoform_ac": "O95864-4", "url": "", "sequence": { "sequence": "MTREPPGCRRVNSLMLYTLRSITSHRSSHPERWATSSQDAFRAFHPDLEFVGKFLKPLLIGELAPEEPSQDHGKNSKITEDFRALRKTAEDMNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIPTLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHFQHHAKPNIFHKDPDVNMLHVFVLGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIPMYFQYQIIMTMIVHKNWVDLAWAVSYYIRFFITYIPFYGILGALLFLNFIRFLESHWFVWVTQMNHIVMEIDQEAYRDWFSSQLTATCNVEQSFFNDWFSGHLNFQIEHHLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK", "length": 413, "header": "sp|O95864-4|FADS2_HUMAN Isoform 4 of Acyl-CoA 6-desaturase OS=Homo sapiens OX=9606 GN=FADS2 PE=1 SV=1 CANONICAL=O95864-1" }, "locus": { "chromosome": "11", "start_pos": 61865686, "end_pos": 61816583, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522056.5", "url": "https://www.ensembl.org/id/ENST00000522056.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429500.1", "url": "https://www.ensembl.org/id/ENSP00000429500.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95864", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95864" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cloning, expression, and fatty acid regulation of the human delta-5 desaturase.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Cho HP, Nakamura M, Clarke SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "10601301", "url": "https://glygen.org/publication/PubMed/10601301" } ] }, { "title": "cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid.", "journal": "The Biochemical journal", "date": "2000", "authors": "Leonard AE, Kelder B, Bobik EG, Chuang LT, Parker-Barnes JM, Thurmond JM, Kroeger PE, Kopchick JJ, Huang YS, Mukerji P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046105" } ], "reference": [ { "type": "PubMed", "id": "10769175", "url": "https://glygen.org/publication/PubMed/10769175" } ] }, { "title": "cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family.", "journal": "Genomics", "date": "2000", "authors": "Marquardt A, Stohr H, White K, Weber BH", "evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864" } ], "reference": [ { "type": "PubMed", "id": "10860662", "url": "https://glygen.org/publication/PubMed/10860662" } ] }, { "title": "Identification and characterization of an enzyme involved in the elongation of n-6 and n-3 polyunsaturated fatty acids.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Parker-Barnes JM, Das T, Bobik E, Leonard AE, Thurmond JM, Chaung LT, Huang YS, Mukerji P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "10899997", "url": "https://glygen.org/publication/PubMed/10899997" } ] }, { "title": "Cloning of a human cDNA encoding a novel enzyme involved in the elongation of long-chain polyunsaturated fatty acids.", "journal": "The Biochemical journal", "date": "2000", "authors": "Leonard AE, Bobik EG, Dorado J, Kroeger PE, Chuang LT, Thurmond JM, Parker-Barnes JM, Das T, Huang YS, Mukerji P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046105" } ], "reference": [ { "type": "PubMed", "id": "10970790", "url": "https://glygen.org/publication/PubMed/10970790" } ] }, { "title": "Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Su HM, Moser AB, Moser HW, Watkins PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "11500517", "url": "https://glygen.org/publication/PubMed/11500517" } ] }, { "title": "Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.", "journal": "Journal of lipid research", "date": "2001", "authors": "Ferdinandusse S, Denis S, Mooijer PA, Zhang Z, Reddy JK, Spector AA, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "11734571", "url": "https://glygen.org/publication/PubMed/11734571" } ] }, { "title": "The same rat Delta6-desaturase not only acts on 18- but also on 24-carbon fatty acids in very-long-chain polyunsaturated fatty acid biosynthesis.", "journal": "The Biochemical journal", "date": "2002", "authors": "D'andrea S, Guillou H, Jan S, Catheline D, Thibault JN, Bouriel M, Rioux V, Legrand P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "11988075", "url": "https://glygen.org/publication/PubMed/11988075" } ] }, { "title": "The E-box like sterol regulatory element mediates the suppression of human Delta-6 desaturase gene by highly unsaturated fatty acids.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2002", "authors": "Nara TY, He WS, Tang C, Clarke SD, Nakamura MT", "evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864" }, { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" } ], "reference": [ { "type": "PubMed", "id": "12147235", "url": "https://glygen.org/publication/PubMed/12147235" } ] }, { "title": "Eicosapentaenoic and docosapentaenoic acids are the principal products of alpha-linolenic acid metabolism in young men*.", "journal": "The British journal of nutrition", "date": "2002", "authors": "Burdge GC, Jones AE, Wootton SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "12323085", "url": "https://glygen.org/publication/PubMed/12323085" } ] }, { "title": "Conversion of alpha-linolenic acid to eicosapentaenoic, docosapentaenoic and docosahexaenoic acids in young women.", "journal": "The British journal of nutrition", "date": "2002", "authors": "Burdge GC, Wootton SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "12323090", "url": "https://glygen.org/publication/PubMed/12323090" } ] }, { "title": "Regulation of human delta-6 desaturase gene transcription: identification of a functional direct repeat-1 element.", "journal": "J. Lipid Res.", "date": "2003", "authors": "Tang C, Cho HP, Nakamura MT, Clarke SD", "evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864" }, { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" }, { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" } ], "reference": [ { "type": "PubMed", "id": "12562861", "url": "https://glygen.org/publication/PubMed/12562861" } ] }, { "title": "Identification of the delta-6 desaturase of human sebaceous glands: expression and enzyme activity.", "journal": "J. Invest. Dermatol.", "date": "2003", "authors": "Ge L, Gordon JS, Hsuan C, Stenn K, Prouty SM", "evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864" }, { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "12713571", "url": "https://glygen.org/publication/PubMed/12713571" } ] }, { "title": "Metabolism of stearidonic acid in human subjects: comparison with the metabolism of other n-3 fatty acids.", "journal": "The American journal of clinical nutrition", "date": "2003", "authors": "James MJ, Ursin VM, Cleland LG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "12716664", "url": "https://glygen.org/publication/PubMed/12716664" } ] }, { "title": "Expression of human delta-6-desaturase is associated with aggressiveness of human breast cancer.", "journal": "Int. J. Mol. Med.", "date": "2003", "authors": "Jiang W.G., Mansel R.E., Lane J.", "evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864" } ], "reference": [ { "type": "PubMed", "id": "12851727", "url": "https://glygen.org/publication/PubMed/12851727" } ] }, { "title": "Studies on the metabolic fate of n-3 polyunsaturated fatty acids.", "journal": "Journal of lipid research", "date": "2003", "authors": "Ferdinandusse S, Denis S, Dacremont G, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "12897190", "url": "https://glygen.org/publication/PubMed/12897190" } ] }, { "title": "Comparison of the conversion rates of alpha-linolenic acid (18:3(n - 3)) and stearidonic acid (18:4(n - 3)) to longer polyunsaturated fatty acids in rats.", "journal": "Biochimica et biophysica acta", "date": "1992", "authors": "Yamazaki K, Fujikawa M, Hamazaki T, Yano S, Shono T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "1346092", "url": "https://glygen.org/publication/PubMed/1346092" } ] }, { "title": "Elongation of long-chain fatty acids.", "journal": "Progress in lipid research", "date": "2004", "authors": "Leonard AE, Pereira SL, Sprecher H, Huang YS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "14636670", "url": "https://glygen.org/publication/PubMed/14636670" } ] }, { "title": "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.", "journal": "DNA Res.", "date": "2005", "authors": "Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T", "evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864" } ], "reference": [ { "type": "PubMed", "id": "16303743", "url": "https://glygen.org/publication/PubMed/16303743" } ] }, { "title": "The metabolism of 7,10,13,16,19-docosapentaenoic acid to 4,7,10,13,16,19-docosahexaenoic acid in rat liver is independent of a 4-desaturase.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Voss A, Reinhart M, Sankarappa S, Sprecher H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "1834642", "url": "https://glygen.org/publication/PubMed/1834642" } ] }, { "title": "Novel functions of acyl-CoA thioesterases and acyltransferases as auxiliary enzymes in peroxisomal lipid metabolism.", "journal": "Progress in lipid research", "date": "2008", "authors": "Hunt MC, Alexson SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "18538142", "url": "https://glygen.org/publication/PubMed/18538142" } ] }, { "title": "Dietary stearidonic acid is a long chain (n-3) polyunsaturated fatty acid with potential health benefits.", "journal": "The Journal of nutrition", "date": "2009", "authors": "Whelan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "19056654", "url": "https://glygen.org/publication/PubMed/19056654" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95864", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95864" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Placental expression of Fatty Acid Desaturases 1, 2 and 3 in selected pregnancy pathologies.", "journal": "Acta biochimica Polonica", "date": "2023-01-18", "authors": "Bobi\u0144ski Rafa\u0142, Mazurek Urszula, Zmarzly Nikola, Ulman-W\u0142odarz Izabela, Dutka Mieczys\u0142aw, Pizon Monika, Pollok-Waksma\u0144ska Wioletta, Pielesz Anna, Hajduga Maciej, Zimmer Karolina, Bujok Jan, Paj\u0105k Celina, Ilczak Tomasz", "evidence": [ { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" } ], "reference": [ { "type": "PubMed", "id": "36652541", "url": "https://glygen.org/publication/PubMed/36652541" } ] }, { "title": "The integrative panel of fatty acid desaturase-2 (FADS2) rs174583 gene polymorphism and dietary indices (DQI-I and HEI) affects cardiovascular risk factors among obese individuals.", "journal": "BMC endocrine disorders", "date": "2023-02-15", "authors": "Mahmoudinezhad Mahsa, Khosravaniardakani Sheida, Saljoughi Badelou Leila, Fayyazishishavan Ehsan, Kahroba Houman, Farhangi Mahdieh Abbasalizad", "evidence": [ { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" } ], "reference": [ { "type": "PubMed", "id": "36788508", "url": "https://glygen.org/publication/PubMed/36788508" } ] }, { "title": "The role of fatty acid desaturase 2 in multiple tumor types revealed by bulk and single-cell transcriptomes.", "journal": "Lipids in health and disease", "date": "2023-02-14", "authors": "Chen Enli, Wang Cong, Lv Hongwei, Yu Jing", "evidence": [ { "database": "RefSeq", "id": 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Hans J\u00f6rgen, Gunderson Erica P, Hayward Caroline, He Chunyan, van Heemst Diana, Hill W David, Hoffmann Eva R, Homuth Georg, Hottenga Jouke Jan, Huang Hongyang, Hypp\u04e7nen Elina, Ikram M Arfan, Jansen Rick, Johannesson Magnus, Kamali Zoha, Kardia Sharon L R, Kavousi Maryam, Kifley Annette, Kiiskinen Tuomo, Kraft Peter, K\u00fchnel Brigitte, Langenberg Claudia, Liew Gerald, , Lind Penelope A, Luan Jian'an, M\u00e4gi Reedik, Magnusson Patrik K E, Mahajan Anubha, Martin Nicholas G, Mbarek Hamdi, McCarthy Mark I, McMahon George, Medland Sarah E, Meitinger Thomas, Metspalu Andres, Mihailov Evelin, Milani Lili, Missmer Stacey A, Mitchell Paul, M\u00f8llegaard Stine, Mook-Kanamori Dennis O, Morgan Anna, van der Most Peter J, de Mutsert Ren\u00e9e, Nauck Matthias, Nolte Ilja M, Noordam Raymond, Penninx Brenda W J H, Peters Annette, Peyser Patricia A, Pola\u0161ek Ozren, Power Chris, Pribisalic Ajka, Redmond Paul, Rich-Edwards Janet W, Ridker Paul M, Rietveld Cornelius A, Ring Susan M, Rose Lynda M, Rueedi Rico, Shukla Vallari, Smith Jennifer A, Stankovic Stasa, Stef\u00e1nsson K\u00e1ri, St\u00f6ckl Doris, Strauch Konstantin, Swertz Morris A, Teumer Alexander, Thorleifsson Gudmar, Thorsteinsdottir Unnur, Thurik A Roy, Timpson Nicholas J, Turman Constance, Uitterlinden Andr\u00e9 G, Waldenberger Melanie, Wareham Nicholas J, Weir David R, Willemsen Gonneke, Zhao Jing Hau, Zhao Wei, Zhao Yajie, Snieder Harold, den Hoed Marcel, Ong Ken K, Mills Melinda C, Perry John R B", "evidence": [ { "database": "RefSeq", "id": "NP_001268430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268430" } ], "reference": [ { "type": "PubMed", "id": "36864135", "url": "https://glygen.org/publication/PubMed/36864135" } ] }, { "title": "Hsa_circ_0000073 promotes lipid synthesis of osteosarcoma through hsa-miR-1184/ FADS2 pathway.", "journal": "Cellular signalling", "date": "2023-10", "authors": "Ren Zhijing, Wang Shuhui, Li Bo, Huang Haifeng, Zhang Hua, Yang Zhen, Tian Xiaobin", 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Biol. Chem.", "date": "1999", "authors": "Cho H.P., Clarke S.D., Nakamura M.T.", "evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864" } ], "reference": [ { "type": "PubMed", "id": "9867867", "url": "https://glygen.org/publication/PubMed/9867867" } ] } ], "pathway": [ { "id": "hsa:9415", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9415", "resource": "KEGG Pathway" }, { "id": "R-HSA-2046105", "name": "Linoleic acid (LA) metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046105", "resource": "Reactome", "description": "Linoleic acid (LA) metabolism" }, { "id": "R-HSA-2046106", "name": "alpha-linolenic acid (ALA) metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106", "resource": "Reactome", "description": "alpha-linolenic acid (ALA) metabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9Z0R9-1", "protein_name": "Acyl-CoA 6-desaturase", "gene_name": "Fads2", 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"evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864" } ], "pmid": "" }, { "name": "linoleoyl-CoA desaturase activity", "id": "GO:0016213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016213", "evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water", "id": "GO:0016717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016717", "evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "O95864", "url": "https://www.uniprot.org/uniprot/O95864" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 45, "end_pos": 47, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "36999", "name": "", "equation": "(9Z,12Z,15Z,18Z,21Z)-tetracosapentaenoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (6Z,9Z,12Z,15Z,18Z,21Z)-tetracosahexaenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Z122-1", "O95864-1", "Q9Z0R9-1" ], "evidence": [ { "id": "36999", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/36999" } ] }, { "id": "37023", "name": "", "equation": "2 Fe(II)-[cytochrome b5] + 2 H(+) + hexadecanoyl-CoA + O2 = (6Z)-hexadecenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95864-1" ], "evidence": [ { "id": "37023", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/37023" } ] }, { "id": "39567", "name": "", "equation": "(11Z,14Z)-eicosadienoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (8Z,11Z,14Z)-eicosatrienoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Z122-1", "O95864-1", "Q9Z0R9-1" ], "evidence": [ { "id": "39567", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39567" } ] }, { "id": "39571", "name": "", "equation": "(11Z,14Z,17Z)-eicosatrienoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (8Z,11Z,14Z,17Z)-eicosatetraenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Z122-1", "O95864-1", "Q9Z0R9-1" ], "evidence": [ { "id": "39571", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39571" } ] }, { "id": "46064", "name": "", "equation": "(11E)-octadecenoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (6Z,11E)-octadecadienoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Z122-1", "O95864-1", "Q9Z0R9-1" ], "evidence": [ { "id": "46064", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46064" } ] }, { "id": "47140", "name": "", "equation": "(9Z,12Z)-octadecadienoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (6Z,9Z,12Z)-octadecatrienoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Z122-1", "O95864-1", "Q9Z0R9-1" ], "evidence": [ { "id": "47140", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47140" } ] }, { "id": "47144", "name": "", "equation": "(9Z,12Z,15Z)-octadecatrienoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (6Z,9Z,12Z,15Z)-octadecatetraenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9Z122-1", "O95864-1", "Q9Z0R9-1" ], "evidence": [ { "id": "47144", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47144" } ] }, { "id": "R-HSA-2046084", "name": "Desaturation of alpha-linoleoyl-CoA to Stearidonoyl-CoA", "equation": "", "summary": "Alpha-linoloyl-CoA is converted to Stearidonoyl-CoA (SDA, 6,9,12,15-18:3(n-3)) by delta-6-destaurase (fatty acid desaturase-2, FADS2). FADS2 uses the cytochrome b5 system to add a double bond at position 6. This is the rate limiting step in alpha-linolenic acid (ALA) metabolism (Horrobin 1993).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95864-1" ], "evidence": [ { "id": "R-HSA-2046084", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046084" } ] }, { "id": "R-HSA-2046096", "name": "Desaturation of Linoleoyl-CoA to gamma-linolenoyl-CoA", "equation": "", "summary": "The first major step in the metabolism of linoleic acid (LA) is desaturation of delta 9,12-octadecadienoyl CoA/linoleoyl CoA (LA-CoA) to delta 6,9,12-octodecatrienoyl CoA/gamma-lenoleoyl CoA (GLA-CoA). This step is catalyzed by delta-6-destaurase (fatty acid desaturase-2, FADS2) which introduces a cis-double bond between carbons 6 and 7. This is the rate limiting step in LA metabolism (Horrobin 1993).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95864-1" ], "evidence": [ { "id": "R-HSA-2046096", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046096" } ] }, { "id": "R-HSA-2046097", "name": "Desaturation of tetracosatetraenoyl-CoA to tetracosapentaenoyl-CoA", "equation": "", "summary": "Tetracosatetraenoyl-CoA is further desaturated by delta 6-desaturase (FADS2) to tetracosapentaenoyl-CoA (TPA-CoA, 6,9,12,15,18-24:5(n-6)).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-2046048" ], "output_participant_list": [ "R-ALL-194653" ], "enzyme_list": [ "O95864-1" ], "evidence": [ { "id": "R-HSA-2046097", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046097" } ] }, { "id": "R-HSA-2046099", "name": "Desaturation of tetracosapentaenoyl-CoA to tetracosahexaenoyl-CoA", "equation": "", "summary": "Tetracosapentaenoyl-CoA (9,12,15,18,21-24:5(n-3)) is further converted by delta 6-desaturase (FADS2) to tetracosahexaenoyl-CoA (6,9,12,15,18,21-24:6(n-3)).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-2046065" ], "output_participant_list": [], "enzyme_list": [ "O95864-1" ], "evidence": [ { "id": "R-HSA-2046099", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046099" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-194653", "participant_name": "NAD+ [endoplasmic reticulum lumen]", "crossref": [ { "id": "C00003", "database": "COMPOUND", "url": "" }, { "id": "57540", "database": "ChEBI", "url": "" }, { "id": "000008214766", "database": "ZINC", "url": "" }, { "id": "C00003", "database": "COMPOUND", "url": "" }, { "id": "57540", "database": "ChEBI", "url": "" }, { "id": "000008214766", "database": "ZINC", "url": "" }, { "id": "C00003", "database": "COMPOUND", "url": "" }, { "id": "57540", "database": "ChEBI", "url": "" }, { "id": "000008214766", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-2046048", "participant_name": "TTA-CoA [endoplasmic reticulum lumen]", "crossref": [ { "id": "63548", "database": "ChEBI", "url": "" }, { "id": "63548", "database": "ChEBI", "url": "" }, { "id": "63548", "database": "ChEBI", "url": "" }, { "id": "63548", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-2046065", "participant_name": "TPA-CoA [endoplasmic reticulum lumen]", "crossref": [ { "id": "63543", "database": "ChEBI", "url": "" }, { "id": "63543", "database": "ChEBI", "url": "" }, { "id": "63543", "database": "ChEBI", "url": "" }, { "id": "63543", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O95864", "gene_name": "FADS2", "activity": [ { "ec_number": "1.14.19.3", "activity": "(9Z,12Z,15Z)-octadecatrienoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (6Z,9Z,12Z,15Z)-octadecatetraenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "O95864", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95864" } ] }, { "ec_number": "1.14.19.3", "activity": "", "evidence": [ { "id": "O95864", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95864" } ] } ] }, { "uniprot_ac": "Q9Z0R9", "gene_name": "Fads2", "activity": [ { "ec_number": "1.14.19.3", "activity": "(9Z,12Z,15Z)-octadecatrienoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (6Z,9Z,12Z,15Z)-octadecatetraenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "Q9Z0R9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z0R9" } ] }, { "ec_number": "1.14.19.3", "activity": "", "evidence": [ { "id": "Q9Z0R9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z0R9" } ] } ] }, { "uniprot_ac": "Q9Z122", 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