{ "uniprot_canonical_ac": "O75151-1", "uniprot_ac": "O75151", "uniprot_id": "PHF2_HUMAN", "mass": { "chemical_mass": 120775.0, "monoisotopic_mass": 120775.0 }, "refseq": { "ac": "NP_005383", "name": "lysine-specific demethylase PHF2", "summary": "This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383" }, "gene_names": [ { "name": "PHF2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75151", "id": "O75151" }, { "name": "CENP-35; GRC5; JHDM1E; KDM7C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383", "id": "NP_005383" }, { "name": "CENP-35", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75151", "id": "O75151" }, { "name": "KIAA0662", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75151", "id": "O75151" }, { "name": "PHF2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383", "id": "NP_005383" } ], "protein_names": [ { "name": "Lysine-specific demethylase PHF2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75151" }, { "name": "1.14.11.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75151" }, { "name": "GRC5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75151" }, { "name": "PHD finger protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75151" }, { "name": "jumonji C domain-containing histone demethylase 1E; centromere protein 35", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383", "id": "NP_005383" }, { "name": "lysine-specific demethylase PHF2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383", "id": "NP_005383" } ], "function": [ { "annotation": "Circ_MBNL3 Restrains Hepatocellular Carcinoma Progression by Sponging miR-873-5p to Release PHF2.", "evidence": [ { "database": "RefSeq", "id": "NP_005383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383" }, { "database": "PubMed", "id": "36380035", "url": "https://glygen.org/publication/PubMed/36380035" } ] }, { "annotation": "Differential association of alterations in FANCC and PTCH1 with that of PHF2, XPA and two breast cancer susceptibility genes (BRCA1/BRCA2) in the two age groups suggests differences in their molecular pathogenesis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383" }, { "database": "PubMed", "id": "18990233", "url": "https://glygen.org/publication/PubMed/18990233" } ] }, { "annotation": "Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_005383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383" }, { "database": "PubMed", "id": "34741163", "url": "https://glygen.org/publication/PubMed/34741163" } ] }, { "annotation": "HIF-1alpha-mediated augmentation of miRNA-18b-5p facilitates proliferation and metastasis in osteosarcoma through attenuation PHF2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383" }, { "database": "PubMed", "id": "35729160", "url": "https://glygen.org/publication/PubMed/35729160" } ] }, { "annotation": "Lysine demethylase that demethylates both histones and non-histone proteins (PubMed:20129925, PubMed:21167174, PubMed:21532585). Enzymatically inactive by itself, and becomes active following phosphorylation by PKA: forms a complex with ARID5B and mediates demethylation of methylated ARID5B (PubMed:21532585). Demethylation of ARID5B leads to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes (PubMed:21532585). The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. PHF2 is recruited to trimethylated 'Lys-4' of histone H3 (H3K4me3) at rDNA promoters and promotes expression of rDNA (PubMed:21532585). Involved in the activation of toll-like receptor 4 (TLR4)-target inflammatory genes in macrophages by catalyzing the demethylation of trimethylated histone H4 lysine 20 (H4K20me3) at the gene promoters (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151#function" }, { "database": "PubMed", "id": "21532585", "url": "https://glygen.org/publication/PubMed/21532585" }, { "database": "PubMed", "id": "21167174", "url": "https://glygen.org/publication/PubMed/21167174" }, { "database": "UniProtKB", "id": "Q9WTU0", "url": "https://www.uniprot.org/uniprot/Q9WTU0#function" }, { "database": "PubMed", "id": "20129925", "url": "https://glygen.org/publication/PubMed/20129925" } ] }, { "annotation": "PHF2 regulates homology-directed DNA repair by controlling the resection of DNA double strand breaks.", "evidence": [ { "database": "RefSeq", "id": "NP_005383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383" }, { "database": "PubMed", "id": "32232336", "url": "https://glygen.org/publication/PubMed/32232336" } ] }, { "annotation": "Palmitoylation-driven PHF2 ubiquitination remodels lipid metabolism through the SREBP1c axis in hepatocellular carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383" }, { "database": "PubMed", "id": "37828054", "url": "https://glygen.org/publication/PubMed/37828054" } ] }, { "annotation": "The crystal structures of PHF2 Jumonji domain in the absence and presence of additional exogenous metal ions were determined.", "evidence": [ { "database": "RefSeq", "id": "NP_005383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383" }, { "database": "PubMed", "id": "21167174", "url": "https://glygen.org/publication/PubMed/21167174" } ] }, { "annotation": "This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 1056, "end_pos": 1056, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation by PKA and activation of demethylase activity; when associated with A-757; A-899 and A-954.", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "21532585", "url": "https://glygen.org/publication/PubMed/21532585" } ] }, { "start_pos": 249, "end_pos": 249, "sequence_org": "H", "sequence_mut": "A", "comment": "Abolishes demethylase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "21532585", "url": "https://glygen.org/publication/PubMed/21532585" } ] }, { "start_pos": 29, "end_pos": 29, "sequence_org": "W", "sequence_mut": "A", "comment": "Abolishes binding to H3K4me2 and H3K4me3.", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "20129925", "url": "https://glygen.org/publication/PubMed/20129925" } ] }, { "start_pos": 321, "end_pos": 321, "sequence_org": "Y", "sequence_mut": "H", "comment": "Does not alter iron-binding nor activates histone demethylase activity.", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "21167174", "url": "https://glygen.org/publication/PubMed/21167174" } ] }, { "start_pos": 757, "end_pos": 757, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation by PKA and activation of demethylase activity; when associated with A-899; A-954 and A-1056.", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "21532585", "url": "https://glygen.org/publication/PubMed/21532585" } ] }, { "start_pos": 7, "end_pos": 7, "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes binding to H3K4me2 and H3K4me3.", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "20129925", "url": "https://glygen.org/publication/PubMed/20129925" } ] }, { "start_pos": 899, "end_pos": 899, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation by PKA and activation of demethylase activity; when associated with A-757; A-954 and A-1056.", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "21532585", "url": "https://glygen.org/publication/PubMed/21532585" } ] }, { "start_pos": 954, "end_pos": 954, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation by PKA and activation of demethylase activity; when associated with A-757; A-899 and A-1056.", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "21532585", "url": "https://glygen.org/publication/PubMed/21532585" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "77.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "66.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "82.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "65.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "75.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197724", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197724" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75151" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75151" } ], "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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75151" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"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": "O75151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75151" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75151" } ], "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 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"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 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75151" } ], "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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75151" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75151" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75151" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75151", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75151" } ], "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": 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"Enzyme and Pathway" ] }, { "id": "604351", "url": "http://www.omim.org/entry/604351", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75151", "url": "https://www.nextprot.org/entry/NX_O75151", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75151", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75151", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "GPGQMPD", "url": "https://omabrowser.org/oma/group/GPGQMPD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2784357at2759", "url": "http://www.orthodb.org/?query=2784357at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23123", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23123", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23123:SF14", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23123:SF14", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3KQI", "url": "https://www.rcsb.org/structure/3KQI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3PTR", "url": "https://www.rcsb.org/structure/3PTR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3PU3", "url": "https://www.rcsb.org/structure/3PU3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3PU8", "url": "https://www.rcsb.org/structure/3PU8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3PUA", "url": "https://www.rcsb.org/structure/3PUA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3PUS", "url": "https://www.rcsb.org/structure/3PUS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7M10", "url": "https://www.rcsb.org/structure/7M10", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8F8Y", "url": "https://www.rcsb.org/structure/8F8Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8F8Z", "url": "https://www.rcsb.org/structure/8F8Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00628", "url": "http://pfam.xfam.org/family/PF00628", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02373", "url": "http://pfam.xfam.org/family/PF02373", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17811", "url": "http://pfam.xfam.org/family/PF17811", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75151", "url": "https://pharos.nih.gov/targets/O75151", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75151", "url": "http://purl.obolibrary.org/obo/PR_O75151", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "60192", "url": "https://www.rhea-db.org/rhea/60192", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A087WW48", "url": "https://www.uniprot.org/uniprot/A0A087WW48", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WW48-1", "url": "https://www.uniprot.org/uniprot/A0A087WW48-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ET14", "url": "https://www.uniprot.org/uniprot/E7ET14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ET14-1", "url": "https://www.uniprot.org/uniprot/E7ET14-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75151-1", "url": "https://www.uniprot.org/uniprot/O75151-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MATVPVYCVCRLPYDVTRFMIECDACKDWFHGSCVGVEEEEAPDIDIYHCPNCEKTHGKSTLKKKRTWHKHGPGQAPDVKPVQNGSQLFIKELRSRTFPSAEDVVARVPGSQLTLGYMEEHGFTEPILVPKKDGLGLAVPAPTFYVSDVENYVGPERSVDVTDVTKQKDCKMKLKEFVDYYYSTNRKRVLNVTNLEFSDTRMSSFVEPPDIVKKLSWVENYWPDDALLAKPKVTKYCLICVKDSYTDFHIDSGGASAWYHVLKGEKTFYLIRPASANISLYERWRSASNHSEMFFADQVDKCYKCIVKQGQTLFIPSGWIYATLTPVDCLAFAGHFLHSLSVEMQMRAYEVERRLKLGSLTQFPNFETACWYMGKHLLEAFKGSHKSGKQLPPHLVQGAKILNGAFRSWTKKQALAEHEDELPEHFKPSQLIKDLAKEIRLSENASKAVRPEVNTVASSDEVCDGDREKEEPPSPIEATPPQSLLEKVSKKKTPKTVKMPKPSKIPKPPKPPKPPRPPKTLKLKDGGKKKGKKSRESASPTIPNLDLLEAHTKEALTKMEPPKKGKATKSVLSVPNKDVVHMQNDVERLEIREQTKSKSEAKWKYKNSKPDSLLKMEEEQKLEKSPLAGNKDNKFSFSFSNKKLLGSKALRPPTSPGVFGALQNFKEDKPKPVRDEYEYVSDDGELKIDEFPIRRKKNAPKRDLSFLLDKKAVLPTPVTKPKLDSAAYKSDDSSDEGSLHIDTDTKPGRNARVKKESGSSAAGILDLLQASEEVGALEYNPSSQPPASPSTQEAIQGMLSMANLQASDSCLQTTWGAGQAKGSSLAAHGARKNGGGSGKSAGKRLLKRAAKNSVDLDDYEEEQDHLDACFKDSDYVYPSLESDEDNPIFKSRSKKRKGSDDAPYSPTARVGPSVPRQDRPVREGTRVASIETGLAAAAAKLSQQEEQKSKKKKSAKRKLTPNTTSPSTSTSISAGTTSTSTTPASTTPASTTPASTSTASSQASQEGSSPEPPPESHSSSLADHEYTAAGTFTGAQAGRTSQPMAPGVFLTQRRPSASSPNNNTAAKGKRTKKGMATAKQRLGKILKIHRNGKLLL", "length": 1096, "header": "sp|O75151-1|PHF2_HUMAN Isoform 1 of Lysine-specific demethylase PHF2 OS=Homo sapiens OX=9606 GN=PHF2 PE=1 SV=4 CANONICAL=O75151-1" }, "isoforms": [ { "isoform_ac": "A0A087WW48-1", "url": "", "sequence": { "sequence": "MATVPVYCVCRLPYDVTRFMIECDACKDWFHGSCVGVEEEEAPDIDIYHCPNCEKTHGKSTLKKKRTWHKHGPGQAPDVKAAKNSVDLDDYEEEQDHLDACFKDSDYVYPSLESDEDNPIFKSRSKKRKGSDDAPYSPTARVGPSVPRQDRPVREGTRVASIETGLAAAAAKLSQQEEQKSKKKKSAKRKLTPNTTSPSTSTSISAGTTSTSTTPASTTPASTTPASTSTASSQASQEGSSPEPPPESHSSSLADHEYTAAGTFTGAQAGRTSQPMAPGVFLTQRRPSASSPNNNTAAKGKRTKKGMATAKQRLGKILKIHRNGKLLL", "length": 328, "header": "tr|A0A087WW48-1|PHF2_HUMAN Computationally mapped isoform of Lysine-specific demethylase PHF2 OS=Homo sapiens OX=9606 GN=PHF2 PE=1 SV=1 CANONICAL=O75151-1" }, "locus": { "chromosome": "9", "start_pos": 93677673, "end_pos": 93576774, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610682.1", "url": "https://www.ensembl.org/id/ENST00000610682.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000479936.1", "url": "https://www.ensembl.org/id/ENSP00000479936.1" } ] } }, { "isoform_ac": "E7ET14-1", "url": "", "sequence": { "sequence": "MIECDACKDWFHGSCVGVEEEEAPDIDIYHCPNCEKTHGKSTLKKKRTWHKHGPGQAPDVKPPKNSVDLDDYEEEQDHLDACFKDSDYVYPSLESDEDNPIFKSRSKKRKGSDDAPYSPTARVGPSVPRQDRPVREGTRVASIETGLAAAAAKLSQQEEQKSKKKKSAKRKLTPNTTSPSTSTSISAGTTSTSTTPASTTPASTTPASTSTASSQASQEGSSPEPPPESHSSSLADHEYTAAGTFTGAQAGRTSQPMAPGVFLTQRRPSASSPNNNTAAKGKRTKKGMATAKQRLGKILKIHRNGKLLL", "length": 309, "header": "tr|E7ET14-1|PHF2_HUMAN Computationally mapped isoform of Lysine-specific demethylase PHF2 OS=Homo sapiens OX=9606 GN=PHF2 PE=1 SV=3 CANONICAL=O75151-1" }, "locus": { "chromosome": "9", "start_pos": 93677673, "end_pos": 93576831, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000375376.8", "url": "https://www.ensembl.org/id/ENST00000375376.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000364525.5", "url": "https://www.ensembl.org/id/ENSP00000364525.5" } ] } }, { "isoform_ac": "O75151-1", "url": "", "sequence": { "sequence": "MATVPVYCVCRLPYDVTRFMIECDACKDWFHGSCVGVEEEEAPDIDIYHCPNCEKTHGKSTLKKKRTWHKHGPGQAPDVKPVQNGSQLFIKELRSRTFPSAEDVVARVPGSQLTLGYMEEHGFTEPILVPKKDGLGLAVPAPTFYVSDVENYVGPERSVDVTDVTKQKDCKMKLKEFVDYYYSTNRKRVLNVTNLEFSDTRMSSFVEPPDIVKKLSWVENYWPDDALLAKPKVTKYCLICVKDSYTDFHIDSGGASAWYHVLKGEKTFYLIRPASANISLYERWRSASNHSEMFFADQVDKCYKCIVKQGQTLFIPSGWIYATLTPVDCLAFAGHFLHSLSVEMQMRAYEVERRLKLGSLTQFPNFETACWYMGKHLLEAFKGSHKSGKQLPPHLVQGAKILNGAFRSWTKKQALAEHEDELPEHFKPSQLIKDLAKEIRLSENASKAVRPEVNTVASSDEVCDGDREKEEPPSPIEATPPQSLLEKVSKKKTPKTVKMPKPSKIPKPPKPPKPPRPPKTLKLKDGGKKKGKKSRESASPTIPNLDLLEAHTKEALTKMEPPKKGKATKSVLSVPNKDVVHMQNDVERLEIREQTKSKSEAKWKYKNSKPDSLLKMEEEQKLEKSPLAGNKDNKFSFSFSNKKLLGSKALRPPTSPGVFGALQNFKEDKPKPVRDEYEYVSDDGELKIDEFPIRRKKNAPKRDLSFLLDKKAVLPTPVTKPKLDSAAYKSDDSSDEGSLHIDTDTKPGRNARVKKESGSSAAGILDLLQASEEVGALEYNPSSQPPASPSTQEAIQGMLSMANLQASDSCLQTTWGAGQAKGSSLAAHGARKNGGGSGKSAGKRLLKRAAKNSVDLDDYEEEQDHLDACFKDSDYVYPSLESDEDNPIFKSRSKKRKGSDDAPYSPTARVGPSVPRQDRPVREGTRVASIETGLAAAAAKLSQQEEQKSKKKKSAKRKLTPNTTSPSTSTSISAGTTSTSTTPASTTPASTTPASTSTASSQASQEGSSPEPPPESHSSSLADHEYTAAGTFTGAQAGRTSQPMAPGVFLTQRRPSASSPNNNTAAKGKRTKKGMATAKQRLGKILKIHRNGKLLL", "length": 1096, "header": "sp|O75151-1|PHF2_HUMAN Isoform 1 of Lysine-specific demethylase PHF2 OS=Homo sapiens OX=9606 GN=PHF2 PE=1 SV=4 CANONICAL=O75151-1" }, "locus": { "chromosome": "9", "start_pos": 93677673, "end_pos": 93576774, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359246.9", "url": "https://www.ensembl.org/id/ENST00000359246.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000352185.4", "url": "https://www.ensembl.org/id/ENSP00000352185.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75151", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75151" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" } ] } ], "phosphorylation": [ { "start_pos": 1056, "end_pos": 1056, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" }, { "database": "PubMed", "id": "21532585", "url": "https://glygen.org/publication/PubMed/21532585" } ], "site_lbl": "Ser1056" }, { "start_pos": 1059, "end_pos": 1059, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1059" }, { "start_pos": 162, "end_pos": 162, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr162" }, { "start_pos": 286, "end_pos": 286, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser286" }, { "start_pos": 458, "end_pos": 458, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "O75151", "url": "http://phospho.elm.eu.org/byAccession/O75151.html" } ], "site_lbl": "Ser458" }, { "start_pos": 459, "end_pos": 459, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser459" }, { "start_pos": 474, "end_pos": 474, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser474" }, { "start_pos": 479, "end_pos": 479, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Thr479" }, { "start_pos": 537, "end_pos": 537, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O75151", "url": "http://phospho.elm.eu.org/byAccession/O75151.html" } ], "site_lbl": "Ser537" }, { "start_pos": 539, "end_pos": 539, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O75151", "url": "http://phospho.elm.eu.org/byAccession/O75151.html" } ], "site_lbl": "Ser539" }, { "start_pos": 541, "end_pos": 541, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O75151", "url": "http://phospho.elm.eu.org/byAccession/O75151.html" } ], "site_lbl": "Thr541" }, { "start_pos": 625, "end_pos": 625, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": 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Genome", "date": "1999", "authors": "Hasenpusch-Theil K, Chadwick B P, Theil T, Heath S K, Wilkinson D G, Frischauf A M", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" } ], "reference": [ { "type": "PubMed", "id": "10051327", "url": "https://glygen.org/publication/PubMed/10051327" } ] }, { "title": "Histone demethylation mediated by the nuclear amine oxidase homolog LSD1.", "journal": "Cell", "date": "2004", "authors": "Shi Y, Lan F, Matson C, Mulligan P, Whetstine JR, Cole PA, Casero RA, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "15620353", "url": "https://glygen.org/publication/PubMed/15620353" } ] }, { "title": "Histone demethylation by a family of JmjC domain-containing proteins.", "journal": "Nature", "date": "2006", "authors": "Tsukada Y, Fang J, Erdjument-Bromage H, Warren ME, 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Zhang G, Colaiacovo M, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "16603238", "url": "https://glygen.org/publication/PubMed/16603238" } ] }, { "title": "The transcriptional repressor JHDM3A demethylates trimethyl histone H3 lysine 9 and lysine 36.", "journal": "Nature", "date": "2006", "authors": "Klose RJ, Yamane K, Bae Y, Zhang D, Erdjument-Bromage H, Tempst P, Wong J, Zhang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "16732292", "url": "https://glygen.org/publication/PubMed/16732292" } ] }, { "title": "The putative oncogene GASC1 demethylates tri- and dimethylated lysine 9 on histone H3.", "journal": "Nature", "date": "2006", "authors": "Cloos PA, Christensen J, Agger K, Maiolica A, Rappsilber J, Antal T, Hansen KH, Helin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "16732293", "url": "https://glygen.org/publication/PubMed/16732293" } ] }, { "title": "Jmjd2b antagonizes H3K9 trimethylation at pericentric heterochromatin in mammalian cells.", "journal": "Genes & development", "date": "2006", "authors": "Fodor BD, Kubicek S, Yonezawa M, O'Sullivan RJ, Sengupta R, Perez-Burgos L, Opravil S, Mechtler K, Schotta G, Jenuwein T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "16738407", "url": "https://glygen.org/publication/PubMed/16738407" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Demethylation of trimethylated histone H3 Lys4 in vivo by JARID1 JmjC proteins.", "journal": "Nature structural & molecular biology", "date": "2007", "authors": "Seward DJ, Cubberley G, Kim S, Schonewald M, Zhang L, Tripet B, Bentley DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "17310255", "url": "https://glygen.org/publication/PubMed/17310255" } ] }, { "title": "The retinoblastoma binding protein RBP2 is an H3K4 demethylase.", "journal": "Cell", "date": "2007", "authors": "Klose RJ, Yan Q, Tothova Z, Yamane K, Erdjument-Bromage H, Tempst P, Gilliland DG, Zhang Y, Kaelin WG Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "17320163", "url": "https://glygen.org/publication/PubMed/17320163" } ] }, { "title": "The trithorax-group protein Lid is a histone H3 trimethyl-Lys4 demethylase.", "journal": "Nature structural & molecular biology", "date": "2007", "authors": "Lee N, Zhang J, Klose RJ, Erdjument-Bromage H, Tempst P, Jones RS, Zhang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "17351631", "url": "https://glygen.org/publication/PubMed/17351631" } ] }, { "title": "UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development.", "journal": "Nature", "date": "2007", "authors": "Agger K, Cloos PA, Christensen J, Pasini D, Rose S, Rappsilber J, Issaeva I, Canaani E, Salcini AE, Helin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "17713478", "url": "https://glygen.org/publication/PubMed/17713478" } ] }, { "title": "JMJD6 is a histone arginine demethylase.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Chang B, Chen Y, Zhao Y, Bruick RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "17947579", "url": "https://glygen.org/publication/PubMed/17947579" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", 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"R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "20084082", "url": "https://glygen.org/publication/PubMed/20084082" } ] }, { "title": "Recognition of histone H3K4 trimethylation by the plant homeodomain of PHF2 modulates histone demethylation.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Wen H, Li J, Song T, Lu M, Kan PY, Lee MG, Sha B, Shi X", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "20129925", "url": "https://glygen.org/publication/PubMed/20129925" } ] }, { "title": "PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation.", "journal": "Nature structural & molecular biology", "date": "2010", "authors": "Feng W, Yonezawa M, Ye J, Jenuwein T, Grummt I", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "20208542", "url": "https://glygen.org/publication/PubMed/20208542" } ] }, { "title": "KDM8, a H3K36me2 histone demethylase that acts in the cyclin A1 coding region to regulate cancer cell proliferation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Hsia DA, Tepper CG, Pochampalli MR, Hsia EY, Izumiya C, Huerta SB, Wright ME, Chen HW, Kung HJ, Izumiya Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "20457893", "url": "https://glygen.org/publication/PubMed/20457893" } ] }, { "title": "Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.", "journal": "Nature", "date": "2010", "authors": "Qi HH, Sarkissian M, Hu GQ, Wang Z, Bhattacharjee A, Gordon DB, Gonzales M, Lan F, Ongusaha PP, Huarte M, Yaghi NK, Lim H, Garcia BA, Brizuela L, Zhao K, Roberts TM, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "20622853", "url": "https://glygen.org/publication/PubMed/20622853" } ] }, { "title": "PHF8 mediates histone H4 lysine 20 demethylation events involved in cell cycle progression.", "journal": "Nature", "date": "2010", "authors": "Liu W, Tanasa B, Tyurina OV, Zhou TY, Gassmann R, Liu WT, Ohgi KA, Benner C, Garcia-Bassets I, Aggarwal AK, Desai A, Dorrestein PC, Glass CK, Rosenfeld MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" } ], "reference": [ { "type": "PubMed", "id": "20622854", "url": "https://glygen.org/publication/PubMed/20622854" } ] }, { "title": "The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics.", "journal": "Cell", "date": "2010", "authors": "Ohta S, Bukowski-Wills JC, Sanchez-Pulido L, Alves Fde L, Wood L, Chen ZA, Platani M, Fischer L, Hudson DF, Ponting CP, Fukagawa T, Earnshaw WC, Rappsilber J", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" } ], "reference": [ { "type": "PubMed", "id": "20813266", "url": "https://glygen.org/publication/PubMed/20813266" } ] }, { "title": "Structural basis for human PHF2 Jumonji domain interaction with metal ions.", "journal": "Journal of molecular biology", "date": "2011", "authors": "Horton JR, Upadhyay AK, Hashimoto H, Zhang X, Cheng X", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "RefSeq", "id": "NP_005383", "url": 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Okuno Y, Yokota K, Okada M, Imai Y, Ni M, Meyer CA, Igarashi K, Kanno J, Brown M, Kato S", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "Reactome", "id": "R-HSA-3214842", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214842" }, { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" } ], "reference": [ { "type": "PubMed", "id": "21532585", "url": "https://glygen.org/publication/PubMed/21532585" } ] }, { "title": "Large-scale discovery of ERK2 substrates identifies ERK-mediated transcriptional regulation by ETV3.", "journal": "Science signaling", "date": "2011", "authors": "Carlson SM, Chouinard CR, Labadorf A, Lam CJ, Schmelzle K, Fraenkel E, White FM", "evidence": [ { "database": "iPTMnet", "id": "O75151", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75151" } ], "reference": [ { "type": "PubMed", "id": "22028470", "url": 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"2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75151", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75151" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "PHF2 regulates homology-directed DNA repair by controlling the resection of DNA double strand breaks.", "journal": "Nucleic acids research", "date": "2020", "authors": "Alonso-de Vega I, Paz-Cabrera MC, Rother MB, Wiegant WW, Checa-Rodriguez C, Hernandez-Fernaud JR, Huertas P, Freire R, van Attikum H, Smits VAJ", "evidence": [ { "database": "RefSeq", "id": "NP_005383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383" } ], "reference": [ { "type": "PubMed", "id": "32232336", "url": "https://glygen.org/publication/PubMed/32232336" } ] }, { "title": "Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders.", "journal": "Nature genetics", "date": "2021", "authors": "Eijsbouts C, Zheng T, Kennedy NA, Bonfiglio F, Anderson CA, Moutsianas L, Holliday J, Shi J, Shringarpure S, Voda AI, Farrugia G, Franke A, Hubenthal M, Abecasis G, Zawistowski M, Skogholt AH, Ness-Jensen E, Hveem K, Esko T, Teder-Laving M, Zhernakova A, Camilleri M, Boeckxstaens G, Whorwell PJ, Spiller R, McVean G, D'Amato M, Jostins L, Parkes M", "evidence": [ { "database": "RefSeq", "id": "NP_005383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005383" } ], "reference": [ { "type": "PubMed", "id": "34741163", "url": "https://glygen.org/publication/PubMed/34741163" } ] }, { "title": "HIF-1alpha-mediated augmentation of miRNA-18b-5p facilitates proliferation and metastasis in osteosarcoma through attenuation PHF2.", "journal": "Scientific reports", "date": "2022", "authors": "Luo P, Zhang YD, He F, Tong CJ, Liu K, Liu H, Zhu SZ, Luo JZ, Yuan B", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" } ], "pmid": "" }, { "name": "protein demethylation", "id": "GO:0006482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006482", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" } ], "pmid": "" }, { "name": "negative regulation of rDNA heterochromatin formation", "id": "GO:0061188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061188", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1062, "end_pos": 1064, "annotation": "n_glycosylation_sequon" }, { "start_pos": 191, "end_pos": 193, "annotation": "n_glycosylation_sequon" }, { "start_pos": 277, "end_pos": 279, "annotation": "n_glycosylation_sequon" }, { "start_pos": 289, "end_pos": 291, "annotation": "n_glycosylation_sequon" }, { "start_pos": 444, "end_pos": 446, "annotation": "n_glycosylation_sequon" }, { "start_pos": 84, "end_pos": 86, "annotation": "n_glycosylation_sequon" }, { "start_pos": 962, "end_pos": 964, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated by PKA on specific serine residues, leading to the formation of an active lysine demethylase complex.", "evidence": [ { "database": "UniProtKB", "id": "O75151", "url": "https://www.uniprot.org/uniprot/O75151" }, { "database": "PubMed", "id": "21532585", "url": "https://glygen.org/publication/PubMed/21532585" } ] } ], "interactions": [], "reactions": [ { "id": "60192", "name": "", "equation": "2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + O2 = CO2 + formaldehyde + N(6)-methyl-L-lysyl(9)-[histone H3] + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75151-1", "Q9WTU0-1" ], "evidence": [ { "id": "60192", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60192" } ] }, { "id": "R-HSA-4724284", "name": "KDM3A, KDM3B, KDM7A, PHF2:ARID5B, PHF8 demethylate MeK10-histone H3", "equation": "", "summary": "All characterized lysine demethylases other than KDM1A belong to the jumonjiC domain (JmjC) containing family.The JmjC KDMs are members of the Cupin superfamily of mononuclear Fe (II) dependent oxygenases, which are characterized by the presence of a double-stranded beta-helix core fold. The JmjC KDMs require 2 oxoglutarate (2 OG) and molecular oxygen as co substrates, producing, along with formaldehyde, succinate and carbon dioxide. This hydroxylation based mechanism does not require a protonatable lysine epsilon-amine group and consequently JmjC containing demethylases are able to catalyse demethylateion of tri , di and monomethylated lysines.; ; KDM3A (JHDM2A), KDM3B (JHDM2B), KDM7A (JHDM1D), PHF8 (JHDM1E) and PHF2 when complexed with ARID5B (Wen et al. 2010, Baba et al. 2011) are specific for mono or di-methylated lysine-10 on histone H3 (H3K9Me1/2) (Yamane et al. 2006, Kim et al. 2012, Horton et al. 2010, Huang et al. 2010, Loenarz et al. 2008, Feng et al. 2010, Fortschegger et al. 2010, Qi et al. 2010).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6ZMT4-1", "Q9Y4C1-1", "O75151-1", "Q9UPP1-1", "Q7LBC6-1" ], "evidence": [ { "id": "R-HSA-4724284", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4724284" } ] }, { "id": "R-HSA-5661115", "name": "KDM3A, KDM3B, KDM7A, PHF2:ARID5B, PHF8 demethylate Me2K10-histone H3", "equation": "", "summary": "All characterized lysine demethylases other than KDM1A belong to the jumonjiC domain (JmjC) containing family.The JmjC KDMs are members of the Cupin superfamily of mononuclear Fe (II) dependent oxygenases, which are characterized by the presence of a double-stranded beta-helix core fold. The JmjC KDMs require 2 oxoglutarate (2 OG) and molecular oxygen as co substrates, producing, along with formaldehyde, succinate and carbon dioxide. This hydroxylation based mechanism does not require a protonatable lysine epsilon-amine group and consequently JmjC containing demethylases are able to catalyse demethylateion of tri , di and monomethylated lysines.; ; KDM3A (JHDM2A), KDM3B (JHDM2B), KDM7A (JHDM1D), PHF8 (JHDM1E) and PHF2 when complexed with ARID5B (Wen et al. 2010, Baba et al. 2011) are specific for mono or di-methylated lysine-10 on histone H3 (H3K9Me1/2) (Yamane et al. 2006, Kim et al. 2012, Horton et al. 2010, Huang et al. 2010, Loenarz et al. 2008, Feng et al. 2010, Fortschegger et al. 2010, Qi et al. 2010).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6ZMT4-1", "Q9Y4C1-1", "O75151-1", "Q9UPP1-1", "Q7LBC6-1" ], "evidence": [ { "id": "R-HSA-5661115", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5661115" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O75151", "gene_name": "PHF2", "activity": [ { "ec_number": "1.14.11.-", "activity": "", "evidence": [ { "id": "O75151", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75151" } ] } ] }, { "uniprot_ac": "Q6ZMT4", "gene_name": "KDM7A", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q6ZMT4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZMT4" } ] } ] }, { "uniprot_ac": "Q7LBC6", "gene_name": "KDM3B", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q7LBC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7LBC6" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "Q7LBC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7LBC6" } ] } ] }, { "uniprot_ac": "Q9UPP1", "gene_name": "PHF8", "activity": [ { "ec_number": "1.14.11.27", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(36)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q9UPP1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPP1" } ] }, { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q9UPP1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPP1" } ] }, { "ec_number": "1.14.11.27", "activity": "", "evidence": [ { "id": "Q9UPP1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPP1" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "Q9UPP1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPP1" } ] } ] }, { "uniprot_ac": "Q9WTU0", "gene_name": "Phf2", "activity": [ { "ec_number": "1.14.11.-", "activity": "", "evidence": [ { "id": "Q9WTU0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WTU0" } ] } ] }, { "uniprot_ac": "Q9Y4C1", "gene_name": "KDM3A", "activity": [ { "ec_number": "1.14.11.65", "activity": "2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate.", "evidence": [ { "id": "Q9Y4C1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y4C1" } ] }, { "ec_number": "1.14.11.65", "activity": "", "evidence": [ { "id": "Q9Y4C1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y4C1" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 162, 286, 458, 459, 474, 479, 537, 539, 541, 625, 654, 655, 677, 681, 705, 728, 730, 733, 734, 738, 879, 882, 899, 904, 905, 1056, 1059 ], "sequon_annotation_sites": [ { "start_pos": 1062, "end_pos": 1064 }, { "start_pos": 191, "end_pos": 193 }, { "start_pos": 277, "end_pos": 279 }, { "start_pos": 289, "end_pos": 291 }, { "start_pos": 444, "end_pos": 446 }, { "start_pos": 84, "end_pos": 86 }, { "start_pos": 962, "end_pos": 964 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", 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