{ "uniprot_canonical_ac": "O75342-1", "uniprot_ac": "O75342", "uniprot_id": "LX12B_HUMAN", "mass": { "chemical_mass": 80356.0, "monoisotopic_mass": 80356.0 }, "refseq": { "ac": "NP_001130", "name": "arachidonate 12-lipoxygenase, 12R-type", "summary": "This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" }, "gene_names": [ { "name": "ALOX12B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75342", "id": "O75342" }, { "name": "12R-LOX; ARCI2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130", "id": "NP_001130" }, { "name": "ALOX12B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130", "id": "NP_001130" } ], "protein_names": [ { "name": "Arachidonate 12-lipoxygenase, 12R-type", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75342" }, { "name": "1.13.11.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75342" }, { "name": "12R-LOX", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75342" }, { "name": "12R-lipoxygenase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75342" }, { "name": "Epidermis-type lipoxygenase 12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75342" }, { "name": "arachidonate 12-lipoxygenase, 12R-type", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130", "id": "NP_001130" }, { "name": "epidermis-type lipoxygenase 12; 12R-lipoxygenase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130", "id": "NP_001130" } ], "function": [ { "annotation": "A possible contribution of the SPNS2 variation to POI was not strictly ruled out, but various data presented in the text including reported association of variations in related gene ALOX12 with menopause-age and role of ALOX12B in atretic bovine follicle formation argue in favor of ALOX12B. It is, therefore, concluded that the mutation in ALOX12B is the likely cause of POI in the pedigree.", "evidence": [ { "database": "RefSeq", "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" }, { "database": "PubMed", "id": "32253496", "url": "https://glygen.org/publication/PubMed/32253496" } ] }, { "annotation": "Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:9837935, PubMed:9618483, PubMed:21558561). In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins (PubMed:21558561). Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss (PubMed:21558561). May also play a role in the regulation of the expression of airway mucins (PubMed:22441738).", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342#function" }, { "database": "PubMed", "id": "9618483", "url": "https://glygen.org/publication/PubMed/9618483" }, { "database": "PubMed", "id": "22441738", "url": "https://glygen.org/publication/PubMed/22441738" }, { "database": "PubMed", "id": "21558561", "url": "https://glygen.org/publication/PubMed/21558561" }, { "database": "PubMed", "id": "9837935", "url": "https://glygen.org/publication/PubMed/9837935" } ] }, { "annotation": "Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" }, { "database": "PubMed", "id": "33435499", "url": "https://glygen.org/publication/PubMed/33435499" } ] }, { "annotation": "Survival-related indicators ALOX12B and SPRR1A are associated with DNA damage repair and tumor microenvironment status in HPV 16-negative head and neck squamous cell carcinoma patients. Erratum:[BMC Cancer. 2022 Jul 11;22(1):755. PMID: 35820802] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" }, { "database": "PubMed", "id": "35768785", "url": "https://glygen.org/publication/PubMed/35768785" } ] }, { "annotation": "This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" } ] }, { "annotation": "Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.", "evidence": [ { "database": "RefSeq", "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" }, { "database": "PubMed", "id": "33607042", "url": "https://glygen.org/publication/PubMed/33607042" } ] }, { "annotation": "Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" }, { "database": "PubMed", "id": "38060040", "url": "https://glygen.org/publication/PubMed/38060040" } ] } ], "disease": [ { "disease_id": "DOID:0060710", "recommended_name": { "id": "DOID:0060710", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060710", "name": "autosomal recessive congenital ichthyosis 2", "description": "An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13." }, "synonyms": [ { "id": "DOID:0060710", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060710", "name": "ARCI2", "description": "" }, { "id": "DOID:0060710", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060710", "name": "NCIE1", "description": "" }, { "id": "DOID:0060710", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060710", "name": "nonbullous congenital ichthyosiform erythroderma 1", "description": "" }, { "id": "DOID:0060710", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060710", "name": "BROCQ congenital ichthyosiform erythroderma nonbullous form", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "autosomal recessive congenital ichthyosis 2", "description": "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin." }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "ARCI2", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "Brocq congenital ichthyosiform erythroderma nonbullous form", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "NCIE1", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "autosomal recessive congenital ichthyosis type 2", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "ichthyosis, congenital, autosomal recessive type 2", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "nonbullous congenital ichthyosiform erythroderma 1", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "NBCIE", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "NCIE", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "collodion baby, self-healing", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "ichthyosiform erythroderma, Brocq congenital, nonbullous form", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "ichthyosiform erythroderma, congenital, nonbullous, 1", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "ichthyosiform erythroderma, nonbullous congenital, 1", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "ichthyosiform erythroderma, nonbullous congenital, 1, formerly", "description": "" }, { "id": "MONDO:0009439", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009439", "name": "ichthyosis, congenital, autosomal recessive 2", "description": "" }, { "id": "MIM:242100", "resource": "MIM", "url": "https://www.omim.org/entry/242100", "name": "Ichthyosis, congenital, autosomal recessive 2", "description": "Ichthyosis, congenital, autosomal recessive 2" } ], "evidence": [ { "id": "242100", "database": "MIM", "url": "https://www.omim.org/entry/242100" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "51.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "58.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "55.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "49.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "61.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "45.42", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "39.22", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "27.29", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "47.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000179477", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179477" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75342" } ], "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": 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"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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75342" } ], "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", 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"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": "" 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"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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75342" } ], "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": "O75342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75342" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75342" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75342" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75342" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75342" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75342" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:242", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "242100", "url": "http://www.omim.org/entry/242100", "database": "MIM", "categories": [ "Other" ] }, { "id": "603741", "url": "http://www.omim.org/entry/603741", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75342", "url": "https://www.nextprot.org/entry/NX_O75342", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75342", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75342", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "YCHEAIA", "url": "https://omabrowser.org/oma/group/YCHEAIA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "999249at2759", "url": "http://www.orthodb.org/?query=999249at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11771", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11771", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11771:SF40", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11771:SF40", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00305", "url": "http://pfam.xfam.org/family/PF00305", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01477", "url": "http://pfam.xfam.org/family/PF01477", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75342", "url": "https://pharos.nih.gov/targets/O75342", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75342", "url": "http://purl.obolibrary.org/obo/PR_O75342", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "40495", "url": "https://www.rhea-db.org/rhea/40495", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "41239", "url": "https://www.rhea-db.org/rhea/41239", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "41311", "url": "https://www.rhea-db.org/rhea/41311", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "41336", "url": "https://www.rhea-db.org/rhea/41336", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "41340", "url": "https://www.rhea-db.org/rhea/41340", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "41344", "url": "https://www.rhea-db.org/rhea/41344", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "41756", "url": "https://www.rhea-db.org/rhea/41756", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "43468", "url": "https://www.rhea-db.org/rhea/43468", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "43472", "url": "https://www.rhea-db.org/rhea/43472", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "43476", "url": "https://www.rhea-db.org/rhea/43476", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "43480", "url": "https://www.rhea-db.org/rhea/43480", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "61868", "url": "https://www.rhea-db.org/rhea/61868", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "61872", "url": "https://www.rhea-db.org/rhea/61872", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "61876", "url": "https://www.rhea-db.org/rhea/61876", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "61880", "url": "https://www.rhea-db.org/rhea/61880", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "61884", "url": "https://www.rhea-db.org/rhea/61884", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A3B3IRK2", "url": "https://www.uniprot.org/uniprot/A0A3B3IRK2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IRK2-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IRK2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75342-1", "url": "https://www.uniprot.org/uniprot/O75342-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MATYKVRVATGTDLLSGTRDSISLTIVGTQGESHKQLLNHFGRDFATGAVGQYTVQCPQDLGELIIIRLHKERYAFFPKDPWYCNYVQICAPNGRIYHFPAYQWMDGYETLALREATGKTTADDSLPVLLEHRKEEIRAKQDFYHWRVFLPGLPSYVHIPSYRPPVRRHRNPNRPEWNGYIPGFPILINFKATKFLNLNLRYSFLKTASFFVRLGPMALAFKVRGLLDCKHSWKRLKDIRKIFPGKKSVVSEYVAEHWAEDTFFGYQYLNGVNPGLIRRCTRIPDKFPVTDDMVAPFLGEGTCLQAELEKGNIYLADYRIMEGIPTVELSGRKQHHCAPLCLLHFGPEGKMMPIAIQLSQTPGPDCPIFLPSDSEWDWLLAKTWVRYAEFYSHEAIAHLLETHLIAEAFCLALLRNLPMCHPLYKLLIPHTRYTVQINSIGRAVLLNEGGLSAKGMSLGVEGFAGVMVRALSELTYDSLYLPNDFVERGVQDLPGYYYRDDSLAVWNALEKYVTEIITYYYPSDAAVEGDPELQSWVQEIFKECLLGRESSGFPRCLRTVPELIRYVTIVIYTCSAKHAAVNTGQMEFTAWMPNFPASMRNPPIQTKGLTTLETFMDTLPDVKTTCITLLVLWTLSREPDDRRPLGHFPDIHFVEEAPRRSIEAFRQRLNQISHDIRQRNKCLPIPYYYLDPVLIENSISI", "length": 701, "header": "sp|O75342-1|LX12B_HUMAN Isoform 1 of Arachidonate 12-lipoxygenase, 12R-type OS=Homo sapiens OX=9606 GN=ALOX12B PE=1 SV=1 CANONICAL=O75342-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IRK2-1", "url": "", "sequence": { "sequence": "GYQYLNGVNPGLIRRCTRIPDKFPVTDDMVAPFLGEGTCLQAELELSQTPGPDCPIFLPSDSEWDWLLAKTWVRYAEFYSHEAIAHLLETHLIAEAFCLALLRNLPMCHPLYKLLIPHTRYTVQINSIGRAVLLNEGGLSAKGMSLGVEGFAGVMVRALSELTYDSLYLPNDFVERGVQDLPGYYYRDDSLAVWNALEKYVTEIITYYYPSDAAVEGDPELQSWVQEIFKECLLGRESSGFPRCLRTVPELIRYVTIVIYTCSAKHAAVNTGQMEFTAWMPNFPASMRNPPIQTKGLTTLETFMDTLPDVKTTCITLLVLWTLSREPDDRRPLGHFPDIHFVEEAPRRSIEAFRQRLNQISHDIRQRNKCLPIPYYYLDPVLIENSISI", "length": 389, "header": "tr|A0A3B3IRK2-1|LX12B_HUMAN Computationally mapped isoform of Arachidonate 12-lipoxygenase, 12R-type OS=Homo sapiens OX=9606 GN=ALOX12B PE=1 SV=1 CANONICAL=O75342-1" }, "locus": { "chromosome": "17", "start_pos": 8079903, "end_pos": 8072774, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649809.1", "url": "https://www.ensembl.org/id/ENST00000649809.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496845.1", "url": "https://www.ensembl.org/id/ENSP00000496845.1" } ] } }, { "isoform_ac": "O75342-1", "url": "", "sequence": { "sequence": "MATYKVRVATGTDLLSGTRDSISLTIVGTQGESHKQLLNHFGRDFATGAVGQYTVQCPQDLGELIIIRLHKERYAFFPKDPWYCNYVQICAPNGRIYHFPAYQWMDGYETLALREATGKTTADDSLPVLLEHRKEEIRAKQDFYHWRVFLPGLPSYVHIPSYRPPVRRHRNPNRPEWNGYIPGFPILINFKATKFLNLNLRYSFLKTASFFVRLGPMALAFKVRGLLDCKHSWKRLKDIRKIFPGKKSVVSEYVAEHWAEDTFFGYQYLNGVNPGLIRRCTRIPDKFPVTDDMVAPFLGEGTCLQAELEKGNIYLADYRIMEGIPTVELSGRKQHHCAPLCLLHFGPEGKMMPIAIQLSQTPGPDCPIFLPSDSEWDWLLAKTWVRYAEFYSHEAIAHLLETHLIAEAFCLALLRNLPMCHPLYKLLIPHTRYTVQINSIGRAVLLNEGGLSAKGMSLGVEGFAGVMVRALSELTYDSLYLPNDFVERGVQDLPGYYYRDDSLAVWNALEKYVTEIITYYYPSDAAVEGDPELQSWVQEIFKECLLGRESSGFPRCLRTVPELIRYVTIVIYTCSAKHAAVNTGQMEFTAWMPNFPASMRNPPIQTKGLTTLETFMDTLPDVKTTCITLLVLWTLSREPDDRRPLGHFPDIHFVEEAPRRSIEAFRQRLNQISHDIRQRNKCLPIPYYYLDPVLIENSISI", "length": 701, "header": "sp|O75342-1|LX12B_HUMAN Isoform 1 of Arachidonate 12-lipoxygenase, 12R-type OS=Homo sapiens OX=9606 GN=ALOX12B PE=1 SV=1 CANONICAL=O75342-1" }, "locus": { "chromosome": "17", "start_pos": 8087442, "end_pos": 8072774, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647874.1", "url": "https://www.ensembl.org/id/ENST00000647874.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497784.1", "url": "https://www.ensembl.org/id/ENSP00000497784.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75342", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75342" }, { "id": "26374642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26374642" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" } ] } ], "phosphorylation": [ { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75342" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr10" }, { "start_pos": 18, "end_pos": 18, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75342" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr18" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Stereoselective biosynthesis of hepoxilin B3 in human epidermis.", "journal": "The Journal of investigative dermatology", "date": "2000", "authors": "Anton R, Vila L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "10692117", "url": "https://glygen.org/publication/PubMed/10692117" } ] }, { "title": "Evidence for the presence of phospholipid hydroperoxide glutathione peroxidase in human platelets: implications for its involvement in the regulatory network of the 12-lipoxygenase pathway of arachidonic acid metabolism.", "journal": "The Biochemical journal", "date": "2001", "authors": "Sutherland M, Shankaranarayanan P, Schewe T, Nigam S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "11115402", "url": "https://glygen.org/publication/PubMed/11115402" } ] }, { "title": "A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression.", "journal": "Genomics", "date": "2001", "authors": "Krieg P, Marks F, Furstenberger G", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "reference": [ { "type": "PubMed", "id": "11350124", "url": "https://glygen.org/publication/PubMed/11350124" } ] }, { "title": "Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.", "journal": "Human molecular genetics", "date": "2002", "authors": "Jobard F, Lefevre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "reference": [ { "type": "PubMed", "id": "11773004", "url": "https://glygen.org/publication/PubMed/11773004" } ] }, { "title": "The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Yu Z, Schneider C, Boeglin WE, Marnett LJ, Brash AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "12881489", "url": "https://glygen.org/publication/PubMed/12881489" } ] }, { "title": "Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3.", "journal": "Biochimica et biophysica acta", "date": "2005", "authors": "Yu Z, Schneider C, Boeglin WE, Brash AR", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" }, { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "15629692", "url": "https://glygen.org/publication/PubMed/15629692" } ] }, { "title": "Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.", "journal": "Human mutation", "date": "2005", "authors": "Eckl KM, Krieg P, Kuster W, Traupe H, Andre F, Wittstruck N, Furstenberger G, Hennies HC", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "reference": [ { "type": "PubMed", "id": "16116617", "url": "https://glygen.org/publication/PubMed/16116617" } ] }, { "title": "Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.", "journal": "The Journal of investigative dermatology", "date": "2009", "authors": "Eckl KM, de Juanes S, Kurtenbach J, Natebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martinez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "reference": [ { "type": "PubMed", "id": "19131948", "url": "https://glygen.org/publication/PubMed/19131948" } ] }, { "title": "Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.", "journal": "The Journal of investigative dermatology", "date": "2010", "authors": "Vahlquist A, Bygum A, Ganemo A, Virtanen M, Hellstrom-Pigg M, Strauss G, Brandrup F, Fischer J", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "reference": [ { "type": "PubMed", "id": "19890349", "url": "https://glygen.org/publication/PubMed/19890349" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75342" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Lipoxygenases mediate the effect of essential fatty acid in skin barrier formation: a proposed role in releasing omega-hydroxyceramide for construction of the corneocyte lipid envelope.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Zheng Y, Yin H, Boeglin WE, Elias PM, Crumrine D, Beier DR, Brash AR", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" }, { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "21558561", "url": "https://glygen.org/publication/PubMed/21558561" } ] }, { "title": "Cloning of the cDNA for human 12-lipoxygenase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Izumi T, Hoshiko S, Radmark O, Samuelsson B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "2217179", "url": "https://glygen.org/publication/PubMed/2217179" } ] }, { "title": "A role for 12R-lipoxygenase in MUC5AC expression by respiratory epithelial cells.", "journal": "The European respiratory journal", "date": "2012", "authors": "Garcia-Verdugo I, BenMohamed F, Tattermusch S, Leduc D, Charpigny G, Chignard M, Ollero M, Touqui L", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "reference": [ { "type": "PubMed", "id": "22441738", "url": "https://glygen.org/publication/PubMed/22441738" } ] }, { "title": "Expression of cloned human reticulocyte 15-lipoxygenase and immunological evidence that 15-lipoxygenases of different cell types are related.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Sigal E, Grunberger D, Highland E, Gross C, Dixon RA, Craik CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "2318885", "url": "https://glygen.org/publication/PubMed/2318885" } ] }, { "title": "Molecular cloning, primary structure, and expression of the human platelet/erythroleukemia cell 12-lipoxygenase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Funk CD, Furci L, FitzGerald GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "2377602", "url": "https://glygen.org/publication/PubMed/2377602" } ] }, { "title": "Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.", "journal": "International journal of molecular sciences", "date": "2015", "authors": "Wang T, Xu C, Zhou X, Li C, Zhang H, Lian BQ, Lee JJ, Shen J, Liu Y, Lian CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "26370990", "url": "https://glygen.org/publication/PubMed/26370990" } ] }, { "title": "Proteomic analysis of O-GlcNAcylated proteins in invasive ductal breast carcinomas with and without lymph node metastasis.", "journal": "Amino acids", "date": "2016", "authors": "Jiang K, Gao Y, Hou W, Tian F, Ying W, Li L, Bai B, Hou G, Wang PG, Zhang L", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75342", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75342" } ], "reference": [ { "type": "PubMed", "id": "26374642", "url": "https://glygen.org/publication/PubMed/26374642" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75342", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75342" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.", "journal": "Molecular genetics and genomics : MGG", "date": "2020", "authors": "Alavi A, Darki F, Bidgoli MMR, Zare-Abdollahi D, Moini A, Shahshahani MM, Fischer J, Elahi E", "evidence": [ { "database": "RefSeq", "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" } ], "reference": [ { "type": "PubMed", "id": "32253496", "url": "https://glygen.org/publication/PubMed/32253496" } ] }, { "title": "Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.", "journal": "Genes", "date": "2021", "authors": "Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellstrom Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Sussmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J", "evidence": [ { "database": "RefSeq", "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" } ], "reference": [ { "type": "PubMed", "id": "33435499", "url": "https://glygen.org/publication/PubMed/33435499" } ] }, { "title": "Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.", "journal": "The American journal of pathology", "date": "2021", "authors": "Meyer JM, Crumrine D, Schneider H, Dick A, Schmuth M, Gruber R, Radner FPW, Grond S, Wakefield JS, Mauro TM, Elias PM", "evidence": [ { "database": "RefSeq", "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" } ], "reference": [ { "type": "PubMed", "id": "33607042", "url": "https://glygen.org/publication/PubMed/33607042" } ] }, { "title": "Survival-related indicators ALOX12B and SPRR1A are associated with DNA damage repair and tumor microenvironment status in HPV 16-negative head and neck squamous cell carcinoma patients.", "journal": "BMC cancer", "date": "2022", "authors": "Li J, Tang LL, Ma J", "evidence": [ { "database": "RefSeq", "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" } ], "reference": [ { "type": "PubMed", "id": "35768785", "url": "https://glygen.org/publication/PubMed/35768785" } ] }, { "title": "Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.", "journal": "Archives of dermatological research", "date": "2023-12-07", "authors": "Chegini Mitra, Eslami Maryam, Motavaf Mahsa, Memarsadeghi Omid, Hoseini Azadeh, Torab Elnaz, Hoseininasab Fatemeh, Amiri Hosna, Ramandi Somayeh, Mostofinezhad Niusha, Keivani Fatane, Ghaffari Saeed Reza, Rafati Maryam", "evidence": [ { "database": "RefSeq", "id": "NP_001130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130" } ], "reference": [ { "type": "PubMed", "id": "38060040", "url": "https://glygen.org/publication/PubMed/38060040" } ] }, { "title": "Role of glutathione peroxidase and hexose monophosphate shunt in the platelet lipoxygenase pathway.", "journal": "The Journal of biological chemistry", "date": "1982", "authors": "Bryant RW, Simon TC, Bailey JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "6816802", "url": "https://glygen.org/publication/PubMed/6816802" } ] }, { "title": "Overexpression, purification and characterization of human recombinant 15-lipoxygenase.", "journal": "Biochimica et biophysica acta", "date": "1993", "authors": "Kuhn H, Barnett J, Grunberger D, Baecker P, Chow J, Nguyen B, Bursztyn-Pettegrew H, Chan H, Sigal E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "8334154", "url": "https://glygen.org/publication/PubMed/8334154" } ] }, { "title": "Expression, characterization, and tissue distribution of a new cellular selenium-dependent glutathione peroxidase, GSHPx-GI.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Chu FF, Doroshow JH, Esworthy RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "8428933", "url": "https://glygen.org/publication/PubMed/8428933" } ] }, { "title": "A 12R-lipoxygenase in human skin: mechanistic evidence, molecular cloning, and expression.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Boeglin WE, Kim RB, Brash AR", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" }, { "database": "Reactome", "id": "R-HSA-2142712", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712" } ], "reference": [ { "type": "PubMed", "id": "9618483", "url": "https://glygen.org/publication/PubMed/9618483" } ] }, { "title": "Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment.", "journal": "The Journal of biological chemistry", "date": "1998-12-11", "authors": "Sun D, McDonnell M, Chen X S, Lakkis M M, Li H, Isaacs S N, Elsea S H, Patel P I, Funk C D", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "reference": [ { "type": "PubMed", "id": "9837935", "url": "https://glygen.org/publication/PubMed/9837935" } ] } ], "pathway": [ { "id": "hsa:242", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:242", "resource": "KEGG Pathway" }, { "id": "R-HSA-2142712", "name": "Synthesis of 12-eicosatetraenoic acid derivatives", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142712", "resource": "Reactome", "description": "Synthesis of 12-eicosatetraenoic acid derivatives" } ], "orthologs": [ { "uniprot_canonical_ac": "O70582-1", "protein_name": "Arachidonate 12-lipoxygenase, 12R-type", "gene_name": "Alox12b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MATYKVKVATGTDFFSGTLDSISLTIVGTQGESHKQRLNHFGRDFATGAVDDYTVQCQQDLGELIIIRLHKEPHSFLAKDPWYCNYVQICAPDCRVYHFPAYQWMDGYETLALREATGKITADDTLPILLEHRQEEIRAKKDFYHWRVFVPGLPNYVDIPSYHPPPRRCRNPNRPEWDGYIPGFPILINIKATRFLNSNLRFSFVKTASFFYRLGPMALAFKLRGLVDRKRSWKRLKDIKNIFPATKSVVSEYVAEHWTEDSFFGYQYLNGINPGLIRRCTQIPDKFPVTDEMVAPFLGEGTCLQAELERGNIYLADYRILDGIPTVELNGQQQHHCAPMCLLHFGPDGNMMPIAIQLSQTPGPDCPIFLPNDSEWDWLLAKTWVRYAEFYSHEAVAHLLESHLIGEAFCLALLRNLPMCHPLYKLLIPHTRYNVQINSIGRALLLNKGGLSARAMSLGLEGFAQVMVRGLSELTYKSLCIPNDFVERGVQDLPGYYFRDDSLAVWYAMERYVTEIITYYYPNDAAVEGDPELQCWVQEIFKECLLGRESSGFPTCLRTIPELIEYVTMVMYTCSARHAAVNSGQLEYTSWMPNFPSSMRNPPMQTKGLTTLQTYMDTLPDVKTTCIVLLVLWTLCREPDDRRPLGHFPDIHFVEEGPRRSIEAFRQNLNQISHNIRQRNKCLTLPYYYLDPVLIENSISI", "length": 701 }, "evidence": [ { "id": "45930515", "url": "http://www.informatics.jax.org/homology/45930515", "database": "MGI" }, { "id": "O75342", "url": "https://omabrowser.org/oma/group/O75342/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q2KMM4-1", "protein_name": "Arachidonate 12-lipoxygenase, 12R-type", "gene_name": "Alox12b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MATYKVKVATGTDFFSGTLDSISLTIVGTQGESHKQRLNHFGRDFATGAVDDYTVQCQQDLGELIIIRLHKEPHSFLPKDPWYCNYVQICAPNCRVYHFPAYQWMDGYETLSLREATGKTTADDTLPILLEHRQEEIRAKKDFYHWRVFVPGLPNYVDIPSYHPPPRRCRNPNRPEWNGYIPGFPILINIKATRFLNLNLRFSFVKTASFFYRLGPMALAFKLRGLVDRKRSWKRLKDIKNIFPATKTVVSEYVAEHWTEDSFFGYQYLNGINPGHIRRCMQIPDKFPVTDEMVAPFLGEGTCLQAELEKGNIYLADYRILDGIPTVELNGQKQHHCAPICLLHFGPDGNMMPIAIQLSQTPGPDCPIFLPNDSEWDWLLAKTWVRYAEFYSHEAVAHLLESHLIGEAFCLALLRNLPMCHPLYKLLIPHTRYNVQINSIGRALLLNKGGLSARAMSLGLEGFAQVMVRGLSELTYKSLCIPNDFVERGVQDLPGYYFRDDSLAVWYAMERYVTEIITYYYPNDAAVEGDPELQCWVQEIFKECLLERESSGFPTCLRTVPELIEYVTMVMYTCSARHAAVNTGQLEYTSWMPNFPSSMRNPPMQSKGLTTLQTFMDTLPDVKTTCIVLLVLWTLCREPDDRRPLGHFPDIHFVEEAPRRSMEAFRQNLNQISHNIRQRNKCLNLPYYYLDPVLIENSISI", "length": 701 }, "evidence": [ { "id": "45930515", "url": "http://www.informatics.jax.org/homology/45930515", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 14, "go_terms": [ { "name": "lipid oxidation", "id": "GO:0034440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034440", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "establishment of skin barrier", "id": "GO:0061436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061436", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "sphingolipid metabolic process", "id": "GO:0006665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006665", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "linoleic acid metabolic process", "id": "GO:0043651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043651", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "protein lipidation", "id": "GO:0006497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006497", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "lipoxygenase pathway", "id": "GO:0019372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019372", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "positive regulation of mucus secretion", "id": "GO:0070257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070257", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "arachidonic acid metabolic process", "id": "GO:0019369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019369", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "hepoxilin biosynthetic process", "id": "GO:0051122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051122", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "icosanoid metabolic process", "id": "GO:0006690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006690", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 9, "go_terms": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "lyase activity", "id": "GO:0016829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016829", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "isomerase activity", "id": "GO:0016853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016853", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen", "id": "GO:0016702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016702", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "arachidonate 12(S)-lipoxygenase activity", "id": "GO:0004052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004052", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "linoleate 9S-lipoxygenase activity", "id": "GO:1990136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990136", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "arachidonate 8(R)-lipoxygenase activity", "id": "GO:0047677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047677", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "arachidonate 12(R)-lipoxygenase activity", "id": "GO:0106237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106237", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O75342", "url": "https://www.uniprot.org/uniprot/O75342" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "40495", "name": "", "equation": "N-[omega-(9Z,12Z)-octadecadienoyloxy]acyl-beta-D-glucosyl-(1<->1)-octadecasphing-4E-enine + O2 = N-[omega-(9R)-hydroperoxy-(10E,12Z)-octadecadienoyloxy]acyl-beta-D-glucosyl-(1<->1)-octadecasphing-4E-enine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "40495", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40495" } ] }, { "id": "41239", "name": "", "equation": "N-[omega-(9Z,12Z)-octadecadienoyloxy]-acylsphin-4-enine + O2 = N-acyl (9R)-hydroperoxy-(10E,12Z)-octadecadienoate octadecasphing-4E-enine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "41239", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41239" } ] }, { "id": "41311", "name": "", "equation": "1-O-methyl-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl (5Z,8Z,10E,12R,14Z)-hydroperoxyiecosatetraenoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "41311", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41311" } ] }, { "id": "41336", "name": "", "equation": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = (12R)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "41336", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41336" } ] }, { "id": "41340", "name": "", "equation": "(6Z,9Z,12Z)-octadecatrienoate + O2 = 10R-hydroperoxy-(6Z,8E,12Z)-octadecatrienoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "41340", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41340" } ] }, { "id": "41344", "name": "", "equation": "(5Z,8Z,11Z,14Z,17Z)-eicosapentaenoate + O2 = (5Z,7Z,8Z,10E,14Z,17Z)-12-hydroperoxyeicosapentaenoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "41344", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41344" } ] }, { "id": "41756", "name": "", "equation": "1-O-methyl-(9Z,12Z)-octadecadienoate + O2 = 1-O-methyl-(13S)-hydroperoxy-(9Z,11E)-octadecadienoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZQF9-1", "Q2KMM4-1", "O75342-1", "O70582-1", "P55249-1" ], "evidence": [ { "id": "41756", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/41756" } ] }, { "id": "43468", "name": "", "equation": "(8Z,11Z,14Z)-eicosatrienoate + O2 = (8Z,10E,14Z)-12-hydroperoxyeicosatrienoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "43468", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43468" } ] }, { "id": "43472", "name": "", "equation": "(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate + O2 = 14-hydroperoxy-(4Z,7Z,10Z,12E,16Z,19Z)-docosahexaenoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "43472", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43472" } ] }, { "id": "43476", "name": "", "equation": "(6Z,9Z,12Z)-octadecatrienoate + O2 = 10-hydroperoxy-(6Z,8E,12Z)-octadecatrienoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "43476", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43476" } ] }, { "id": "43480", "name": "", "equation": "1-O-methyl-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl-8-hydroperoxy-(5Z,9E,11Z,14Z)-eicosatetraenoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "43480", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43480" } ] }, { "id": "61868", "name": "", "equation": "1-O-methyl-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl-(8R)-hydroperoxy-(5Z,9E,11Z,14Z)-eicosatrienoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "61868", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/61868" } ] }, { "id": "61872", "name": "", "equation": "1-O-methyl-(9Z,12Z)-octadecadienoate + O2 = 1-O-methyl-(9R)-hydroperoxy-(10E,12Z)-octadecadienoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "61872", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/61872" } ] }, { "id": "61876", "name": "", "equation": "1-O-methyl-20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl-8-hydroperoxy-20-hydroxy-(5Z,9E,11Z,14Z)-eicosatetraenoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "61876", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/61876" } ] }, { "id": "61880", "name": "", "equation": "1-O-methyl-20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl-12-hydroperoxy-20-hydroxy-(5Z,8Z,10E,14Z)-eicosatetraenoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "61880", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/61880" } ] }, { "id": "61884", "name": "", "equation": "1-O-methyl-20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl-9-hydroperoxy-20-hydroxy-(5Z,7E,11Z,14Z)-eicosatetraenoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2KMM4-1", "O75342-1", "O70582-1" ], "evidence": [ { "id": "61884", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/61884" } ] }, { "id": "R-HSA-2161950", "name": "Arachidonic acid is oxidised to 12R-HpETE by ALOX12B", "equation": "", "summary": "The arachidonate 12-lipoxygenase, 12R-type (ALOX12B) oxidises arachidonic acid to 12R-hydroperoxy-eicosatetraenoic acid (12R-HpETE) (Boeglin et al. 1998).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75342-1" ], "evidence": [ { "id": "R-HSA-2161950", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2161950" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "D3ZQF9", "gene_name": "Alox12e", "activity": [ { "ec_number": "1.13.11.-", "activity": "", "evidence": [ { "id": "D3ZQF9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZQF9" } ] }, { "ec_number": "1.13.11.31", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = (12S)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate.", "evidence": [ { "id": "D3ZQF9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZQF9" } ] } ] }, { "uniprot_ac": "O70582", "gene_name": "Alox12b", "activity": [ { "ec_number": "1.13.11.-", "activity": "", "evidence": [ { "id": "O70582", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70582" } ] } ] }, { "uniprot_ac": 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