{ "uniprot_canonical_ac": "A1Z1Q3-2", "uniprot_ac": "A1Z1Q3", "uniprot_id": "MACD2_HUMAN", "mass": { "chemical_mass": 47421.0, "monoisotopic_mass": 47421.0 }, "refseq": { "ac": "NP_001028259", "name": "ADP-ribose glycohydrolase MACROD2 isoform 2", "summary": "The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" }, "gene_names": [ { "name": "MACROD2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A1Z1Q3", "id": "A1Z1Q3" }, { "name": "C20orf133; C2orf133", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259", "id": "NP_001028259" }, { "name": "C20orf133", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1Z1Q3", "id": "A1Z1Q3" }, { "name": "MACROD2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259", "id": "NP_001028259" } ], "protein_names": [ { "name": "ADP-ribose glycohydrolase MACROD2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#names_and_taxonomy", "id": "A1Z1Q3" }, { "name": "3.2.2.-", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#names_and_taxonomy", "id": "A1Z1Q3" }, { "name": "3.5.1.-", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#names_and_taxonomy", "id": "A1Z1Q3" }, { "name": "ADP-ribose glycohydrolase MACROD2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259", "id": "NP_001028259" }, { "name": "MACRO domain-containing protein 2; O-acetyl-ADP-ribose deacetylase MACROD2; [Protein ADP-ribosylglutamate] hydrolase; MACRO domain containing 2; [Protein ADP-ribosylaspartate] hydrolase MACROD2; [Protein ADP-ribosylglutamate] hydrolase MACROD2; ADP-ribose glycohydrolase MACROD2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259", "id": "NP_001028259" }, { "name": "MACRO domain-containing protein 2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#names_and_taxonomy", "id": "A1Z1Q3" }, { "name": "O-acetyl-ADP-ribose deacetylase MACROD2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#names_and_taxonomy", "id": "A1Z1Q3" }, { "name": "[Protein ADP-ribosylaspartate] hydrolase MACROD2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#names_and_taxonomy", "id": "A1Z1Q3" }, { "name": "[Protein ADP-ribosylglutamate] hydrolase MACROD2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#names_and_taxonomy", "id": "A1Z1Q3" } ], "function": [ { "annotation": "A 250 kb de novo microdeletion at 20p12.1, deleting exon 5 of C20orf133, was seen in a Kabuki syndrome case. The de novo deletion, the expression data & the fact that C20orf133 has a macro domain make it a likely candidate to cause KS in this patient.", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" }, { "database": "PubMed", "id": "17586838", "url": "https://glygen.org/publication/PubMed/17586838" } ] }, { "annotation": "A deletion of chromosome 20p12.1 involving the macrodomain containing 2/mono-ADP ribosylhydrolase 2 gene (MACROD2) was found in several members of the family with complex phenotypes, including microcephaly, intellectual disability, dysmorphic features, and polydactyly. This deletion may affect correct embryonic development. Associated epigenetic modifications at the MACROD2 locus, can influence the phenotype severity.", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" }, { "database": "PubMed", "id": "31055587", "url": "https://glygen.org/publication/PubMed/31055587" } ] }, { "annotation": "Association of MACROD2 gene variants with obesity and physical activity in a Korean population.", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" }, { "database": "PubMed", "id": "33624934", "url": "https://glygen.org/publication/PubMed/33624934" } ] }, { "annotation": "Authors describe the results of a deletion assay for the exon 5 in C20orf133 and a mutation analysis of C20orf133 and FLRT3 in patients with Kabuki Syndrome. GeneRIF: Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" }, { "database": "PubMed", "id": "18593871", "url": "https://glygen.org/publication/PubMed/18593871" } ] }, { "annotation": "Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" }, { "database": "PubMed", "id": "32427867", "url": "https://glygen.org/publication/PubMed/32427867" } ] }, { "annotation": "Human papilloma virus (HPV) integration signature in Cervical Cancer: identification of MACROD2 gene as HPV hot spot integration site.", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" }, { "database": "PubMed", "id": "33191407", "url": "https://glygen.org/publication/PubMed/33191407" } ] }, { "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" }, { "database": "PubMed", "id": "18987618", "url": "https://glygen.org/publication/PubMed/18987618" } ] }, { "annotation": "Removes ADP-ribose from asparatate and glutamate residues in proteins bearing a single ADP-ribose moiety (PubMed:23474714, PubMed:23474712). Inactive towards proteins bearing poly-ADP-ribose (PubMed:23474714, PubMed:23474712). Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins (PubMed:21257746).", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#function" }, { "database": "PubMed", "id": "23474712", "url": "https://glygen.org/publication/PubMed/23474712" }, { "database": "PubMed", "id": "23474714", "url": "https://glygen.org/publication/PubMed/23474714" }, { "database": "PubMed", "id": "21257746", "url": "https://glygen.org/publication/PubMed/21257746" } ] }, { "annotation": "Study identifies MACROD2 deletion as a cause of chromosome instability (CIN) in human colorectal cancer. MACROD2 loss causes repression of PARP1 activity, impairing DNA repair. MACROD2 haploinsufficiency promotes CIN and intestinal tumor growth. These results reveal MACROD2 as a major caretaker tumor suppressor gene in intestinal neoplasm.", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" }, { "database": "PubMed", "id": "29880585", "url": "https://glygen.org/publication/PubMed/29880585" } ] }, { "annotation": "The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 100, "end_pos": 100, "sequence_org": "G", "sequence_mut": "A", "comment": "Abolished hydrolase activity and ability to bind ADP-D-ribose.", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" }, { "database": "PubMed", "id": "23474714", "url": "https://glygen.org/publication/PubMed/23474714" } ] }, { "start_pos": 102, "end_pos": 102, "sequence_org": "D", "sequence_mut": "A", "comment": "Reduced ADP-ribosyl hydrolase activity. Reduced ADP-ribosyl hydrolase activity; when associated with A-92.", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" }, { "database": "PubMed", "id": "23474712", "url": "https://glygen.org/publication/PubMed/23474712" }, { "database": "PubMed", "id": "23474714", "url": "https://glygen.org/publication/PubMed/23474714" } ] }, { "start_pos": 106, "end_pos": 106, "sequence_org": "H", "sequence_mut": "A", "comment": "Reduced hydrolase activity.", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" }, { "database": "PubMed", "id": "23474714", "url": "https://glygen.org/publication/PubMed/23474714" } ] }, { "start_pos": 188, "end_pos": 188, "sequence_org": "G", "sequence_mut": "E", "comment": "Abolishes interaction with ADP-ribosylated proteins. Strongly reduced ADP-ribosyl hydrolase activity.", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" }, { "database": "PubMed", "id": "23474712", "url": "https://glygen.org/publication/PubMed/23474712" } ] }, { "start_pos": 92, "end_pos": 92, "sequence_org": "N", "sequence_mut": "A", "comment": "Reduced ADP-ribosyl hydrolase activity; when associated with A-102.", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" }, { "database": "PubMed", "id": "23474712", "url": "https://glygen.org/publication/PubMed/23474712" } ] } ], "expression_tissue": [ { "tissue": { "name": "Kidney", "uberon": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "71.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172264", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172264" } ] }, { "tissue": { "name": "Oral cavity", "uberon": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "45.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000172264", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172264" } ] }, { "tissue": { "name": "Stomach", "uberon": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172264", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172264" } ] }, { "tissue": { "name": "Esophagus", "uberon": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "72.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172264", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172264" } ] }, { "tissue": { "name": "Rectum", "uberon": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "72.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172264", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172264" } ] }, { "tissue": { "name": "Urinary bladder", "uberon": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "75.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172264", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172264" } ] }, { "tissue": { "name": "Thyroid gland", "uberon": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "69.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172264", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172264" } ] }, { "tissue": { "name": "Liver", "uberon": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172264", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172264" } ] }, { "tissue": { "name": "Prostate gland", "uberon": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172264", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172264" } ] }, { "tissue": { "name": "Breast", "uberon": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "68.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172264", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172264" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A1Z1Q3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1Z1Q3" } ], "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: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": "HPC4", "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, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "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": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12; HPC12", "description": "" }, { "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": "HPC12", "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": "familial prostate cancer caused by mutation in EHBP1", "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": "prostate cancer, hereditary, 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, type 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": "HPC3", "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": "prostate cancer, hereditary, 13", "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; HPC13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "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": "prostate cancer, hereditary, 8", "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": "HPC8", "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": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "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": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "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": "prostate cancer, familial", "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, hereditary", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "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 aggressiveness", "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; HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "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": "prostate cancer, hereditary, 1; HPC1", "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": "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": "Prca1", "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: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": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11; 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": "HPC14", "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:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14; HPC14", "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; HPC15", "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": "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, hereditary, X-linked 1; HPCX1", "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 susceptibility, X-linked", "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": "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; HPCX2", "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": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10; HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A1Z1Q3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1Z1Q3" } ], "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": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "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 neoplasm of body 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, intestinal", "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": "malignant tumor of greater curve of 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": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "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 neoplasm of the stomach", "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": "cancer of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A1Z1Q3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1Z1Q3" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer", "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 bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "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": "urinary bladder malignant neoplasm", "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": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary 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": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A1Z1Q3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1Z1Q3" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A1Z1Q3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1Z1Q3" } ], "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": "LNCR1", "description": "" }, { "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 1; LNCR1", "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; LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "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", 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"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": 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"id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A1Z1Q3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1Z1Q3" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A1Z1Q3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1Z1Q3" } ], "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": 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A1Z1Q3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1Z1Q3" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "common_name": "Human" } ], "gene": [ { "name": "MACROD2", "url": "https://www.uniprot.org/uniprot/A1Z1Q3", "locus": { "chromosome": "20", "start_pos": 13995369, "end_pos": 16053197, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000172264", "url": "https://www.ensembl.org/id/ENSG00000172264" } ] } } ], "crossref": [ { "id": "ENSG00000172264", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172264", "database": "Bgee" }, { "id": "A1Z1Q3", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1Z1Q3", "database": "BioMuta" }, { "id": "3.1.1.106", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.1.1.106&UniProtAcc=A1Z1Q3", "database": "BRENDA" }, { "id": "CHEMBL4295630", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4295630", "database": "ChEMBL" }, { "id": "MACROD2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MACROD2", "database": "GeneCards" }, { "id": "140733", "url": "https://www.ncbi.nlm.nih.gov/gene/140733", "database": "GeneID" }, { "id": "16126", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16126", "database": "HGNC" }, { "id": "A1Z1Q3", "url": "https://www.ebi.ac.uk/intact/interactors/id:A1Z1Q3*", "database": "IntAct" }, { "id": "IPR002589", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002589", "database": "InterPro" }, { "id": "IPR043472", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043472", "database": "InterPro" }, { "id": "hsa:140733", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:140733", "database": "KEGG Pathway" }, { "id": "611567", "url": "http://www.omim.org/entry/611567", "database": "MIM" }, { "id": "NX_A1Z1Q3", "url": "https://www.nextprot.org/entry/NX_A1Z1Q3", "database": "neXtProt" }, { "id": "SCMEIED", "url": "https://omabrowser.org/oma/group/SCMEIED/", "database": "OMA" }, { "id": "937161at2759", "url": "http://www.orthodb.org/?query=937161at2759", "database": "OrthoDB" }, { "id": "4IQY", "url": "https://www.rcsb.org/structure/4IQY", "database": "PDB" }, { "id": "6Y4Y", "url": "https://www.rcsb.org/structure/6Y4Y", "database": "PDB" }, { "id": "6Y4Z", "url": "https://www.rcsb.org/structure/6Y4Z", "database": "PDB" }, { "id": "6Y73", "url": "https://www.rcsb.org/structure/6Y73", "database": "PDB" }, { "id": "PF01661", "url": "http://pfam.xfam.org/family/PF01661", "database": "Pfam" }, { "id": "A1Z1Q3", "url": "https://pharos.nih.gov/targets/A1Z1Q3", "database": "PHAROS" }, { "id": "PR_A1Z1Q3", "url": "http://purl.obolibrary.org/obo/PR_A1Z1Q3", "database": "PRO" }, { "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259", "database": "RefSeq" }, { "id": "54428", "url": "https://www.rhea-db.org/rhea/54428", "database": "Rhea" }, { "id": "57060", "url": "https://www.rhea-db.org/rhea/57060", "database": "Rhea" }, { "id": "58248", "url": "https://www.rhea-db.org/rhea/58248", "database": "Rhea" }, { "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3", "database": "UniProtKB" }, { "id": "A1Z1Q3-1", "url": "https://www.uniprot.org/uniprot/A1Z1Q3-1", "database": "UniProtKB" }, { "id": "A1Z1Q3-2", "url": "https://www.uniprot.org/uniprot/A1Z1Q3-2", "database": "UniProtKB" }, { "id": "A1Z1Q3-4", "url": "https://www.uniprot.org/uniprot/A1Z1Q3-4", "database": "UniProtKB" }, { "id": "A1Z1Q3-5", "url": "https://www.uniprot.org/uniprot/A1Z1Q3-5", "database": "UniProtKB" }, { "id": "A1Z1Q3-6", "url": "https://www.uniprot.org/uniprot/A1Z1Q3-6", "database": "UniProtKB" } ], "sequence": { "sequence": "MYPSNKKKKVWREEKERLLKMTLEERRKEYLRDYIPLNSILSWKEEMKGKGQNDEENTQETSQVKKSLTEKVSLYRGDITLLEVDAIVNAANASLLGGGGVDGCIHRAAGPCLLAECRNLNGCDTGHAKITCGYDLPAKYVIHTVGPIARGHINGSHKEDLANCYKSSLKLVKENNIRSVAFPCISTGIYGFPNEPAAVIALNTIKEWLAKNHHEVDRIIFCVFLEVDFKIYKKKMNEFFSVDDNNEEEEDVEMKEDSDENGPEEKQSVEEMEEQSQDADGVNTVTVPGPASEEAVEDCKDEDFAKDENITKGGEVTDHSVRDQDHPDGQENDSTKNEIKIETESQSSYMETEELSSNQEDAVIVEQPEVIPLTEDQEEKEGEKAPGEDTPRMPGKSEGSSDLENTPGPDAGAQDEAKEQRNGTK", "length": 425, "header": "sp|A1Z1Q3-2|MACD2_HUMAN Isoform 2 of ADP-ribose glycohydrolase MACROD2 OS=Homo sapiens OX=9606 GN=MACROD2 PE=1 SV=2 CANONICAL=A1Z1Q3-2" }, "isoforms": [ { "isoform_ac": "A1Z1Q3-1", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#A1Z1Q3-1", "sequence": { "sequence": "MYPSNKKKKVWREEKERLLKMTLEERRKEYLRDYIPLNSILSWKEEMKGKGQNDEENTQETSQVKKSLTEKVSLYRGDITLLEVDAIVNAANASLLGGGGVDGCIHRAAGPCLLAECRNLNGCDTGHAKITCGYDLPAKYVIHTVGPIARGHINGSHKEDLANCYKSSLKLVKENNIRSVAFPCISTGIYGFPNEPAAVIALNTIKEWLAKNHHEVDRIIFCVFLEVDFKIYKKKMNEFFSVDDNNEEEEDVEMKEDSDENGPEEKQSVEEMEEQSQDADGVNTVTVPGPASEEAVEDCKDEDFAKDENITKGGEVTDHSVRDQDHPDGQENDSTKNEIKIETESQSSYMETEELSSNQEDAVIVEQPEVIPLTEDQEEKEGEKAPGEDTPRMPGKSEGSSDLENTPGPDVEMNSQVDKVNDPTESQQEDQLIAGAQDEAKEQRNGTK", "length": 448, "header": "sp|A1Z1Q3-1|MACD2_HUMAN Isoform 1 of ADP-ribose glycohydrolase MACROD2 OS=Homo sapiens OX=9606 GN=MACROD2 PE=1 SV=2 CANONICAL=A1Z1Q3-2" }, "locus": { "chromosome": "20", "start_pos": 16049873, "end_pos": 13995764, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684519", "url": "https://www.ensembl.org/id/ENST00000684519" }, { "database": "Ensembl Peptide", "id": "ENSP00000507484", "url": "https://www.ensembl.org/id/ENSP00000507484" } ] } }, { "isoform_ac": "A1Z1Q3-2", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#A1Z1Q3-2", "sequence": { "sequence": "MYPSNKKKKVWREEKERLLKMTLEERRKEYLRDYIPLNSILSWKEEMKGKGQNDEENTQETSQVKKSLTEKVSLYRGDITLLEVDAIVNAANASLLGGGGVDGCIHRAAGPCLLAECRNLNGCDTGHAKITCGYDLPAKYVIHTVGPIARGHINGSHKEDLANCYKSSLKLVKENNIRSVAFPCISTGIYGFPNEPAAVIALNTIKEWLAKNHHEVDRIIFCVFLEVDFKIYKKKMNEFFSVDDNNEEEEDVEMKEDSDENGPEEKQSVEEMEEQSQDADGVNTVTVPGPASEEAVEDCKDEDFAKDENITKGGEVTDHSVRDQDHPDGQENDSTKNEIKIETESQSSYMETEELSSNQEDAVIVEQPEVIPLTEDQEEKEGEKAPGEDTPRMPGKSEGSSDLENTPGPDAGAQDEAKEQRNGTK", "length": 425, "header": "sp|A1Z1Q3-2|MACD2_HUMAN Isoform 2 of ADP-ribose glycohydrolase MACROD2 OS=Homo sapiens OX=9606 GN=MACROD2 PE=1 SV=2 CANONICAL=A1Z1Q3-2" }, "locus": { "chromosome": "20", "start_pos": 16049873, "end_pos": 13995764, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000217246", "url": "https://www.ensembl.org/id/ENST00000217246" }, { "database": "Ensembl Peptide", "id": "ENSP00000217246", "url": "https://www.ensembl.org/id/ENSP00000217246" } ] } }, { "isoform_ac": "A1Z1Q3-4", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#A1Z1Q3-4", "sequence": { "sequence": "MNEFFSVDDNNEEEEDVEMKEDSDENGPEEKQSVEEMEEQSQDADGVNTVTVPGPASEEAVEDCKDEDFAKDENITKGGEVTDHSVRDQDHPDGQENDSTKNEIKIETESQSSYMETEELSSNQEDAVIVEQPEVIPLTEDQEEKEGEKAPGEDTPRMPGKSEGSSDLENTPGPDVEMNSQVDKVNDPTESQQEDQLIAGAQDEAKEQRNGTK", "length": 213, "header": "sp|A1Z1Q3-4|MACD2_HUMAN Isoform 4 of ADP-ribose glycohydrolase MACROD2 OS=Homo sapiens OX=9606 GN=MACROD2 PE=1 SV=2 CANONICAL=A1Z1Q3-2" }, "locus": { "chromosome": "20", "start_pos": 16049873, "end_pos": 15862805, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378058", "url": "https://www.ensembl.org/id/ENST00000378058" }, { "database": "Ensembl Peptide", "id": "ENSP00000367297", "url": "https://www.ensembl.org/id/ENSP00000367297" } ] } }, { "isoform_ac": "A1Z1Q3-5", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#A1Z1Q3-5", "sequence": { "sequence": "MNEFFSVDDNNEEEEDVEMKEDSDENGPEEKQSVEEMEEQSQDADGVNTVTVPGPASEEAVEDCKDEDFAKDENITKGGEVTDHSVRDQDHPDGQENDSTKNEIKIETESQSSYMETEELSSNQEDAVIVEQPEVIPLTEDQEEKEGEKAPGEDTPRMPGKSEGSSDLENTPGPDAGAQDEAKEQRNGTK", "length": 190, "header": "sp|A1Z1Q3-5|MACD2_HUMAN Isoform 5 of ADP-ribose glycohydrolase MACROD2 OS=Homo sapiens OX=9606 GN=MACROD2 PE=1 SV=2 CANONICAL=A1Z1Q3-2" }, "locus": {} }, { "isoform_ac": "A1Z1Q3-6", "url": "https://www.uniprot.org/uniprot/A1Z1Q3#A1Z1Q3-6", "sequence": { "sequence": "METEELSSNQEDAVIVEQPEVIPLTEDQEEKEGEKAPGEDTPRMPGKSEGSSDLENTPGPDVEMNSQVDKVNDPTESQQEDQLIGAQDEAKEQRNGTK", "length": 98, "header": "sp|A1Z1Q3-6|MACD2_HUMAN Isoform 6 of ADP-ribose glycohydrolase MACROD2 OS=Homo sapiens OX=9606 GN=MACROD2 PE=1 SV=2 CANONICAL=A1Z1Q3-2" }, "locus": { "chromosome": "20", "start_pos": 16049873, "end_pos": 15986789, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407045", "url": "https://www.ensembl.org/id/ENST00000407045" }, { "database": "Ensembl Peptide", "id": "ENSP00000385516", "url": "https://www.ensembl.org/id/ENSP00000385516" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "The C20orf133 gene is disrupted in a patient with Kabuki syndrome.", "journal": "Journal of medical genetics", "date": "2007", "authors": "Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" } ], "reference": [ { "type": "PubMed", "id": "17586838", "url": "https://glygen.org/publication/PubMed/17586838" } ] }, { "title": "Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.", "journal": "Journal of medical genetics", "date": "2008", "authors": "Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura KI, Niikawa N", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" } ], "reference": [ { "type": "PubMed", "id": "18593871", "url": "https://glygen.org/publication/PubMed/18593871" } ] }, { "title": "Proteomic analysis of ubiquitinated proteins in normal hepatocyte cell line Chang liver cells.", "journal": "Proteomics", "date": "2008", "authors": "Cai Y., Gong Y., Qiang B., Sun X., Wang J., Wang L., Wu J., Yuan J., Lu L., Peng X., Luo Y., Xie Y., Tan F., Xu B.-E.", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "reference": [ { "type": "PubMed", "id": "18655026", "url": "https://glygen.org/publication/PubMed/18655026" } ] }, { "title": "Screening for replication of genome-wide SNP associations in sporadic ALS.", "journal": "European journal of human genetics : EJHG", "date": "2009", "authors": "Cronin S, Tomik B, Bradley DG, Slowik A, Hardiman O", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" } ], "reference": [ { "type": "PubMed", "id": "18987618", "url": "https://glygen.org/publication/PubMed/18987618" } ] }, { "title": "Identification of macrodomain proteins as novel O-acetyl-ADP-ribose deacetylases.", "journal": "J. Biol. Chem.", "date": "2011", "authors": "von Delft F., Chen D., Gileadi O., Ahel I., Mehrotra P.V., Vollmar M., Slade D., Phillips C., Denu J.M., Crosthwaite S.K., Kraehenbuehl R., Rossi M.N.", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "reference": [ { "type": "PubMed", "id": "21257746", "url": "https://glygen.org/publication/PubMed/21257746" } ] }, { "title": "A family of macrodomain proteins reverses cellular mono-ADP-ribosylation.", "journal": "Nat. Struct. Mol. Biol.", "date": "2013", "authors": "Zacharias M., Rybin V., Ladurner A.G., Golia B., Hassler M., Jankevicius G., Timinszky G.", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "reference": [ { "type": "PubMed", "id": "23474712", "url": "https://glygen.org/publication/PubMed/23474712" } ] }, { "title": "Macrodomain-containing proteins are new mono-ADP-ribosylhydrolases.", "journal": "Nat. Struct. Mol. Biol.", "date": "2013", "authors": "Imhof R., Luescher B., Hassa P.O., Hottiger M.O., Fischer D., Feijs K.L., Forst A.H., Rosenthal F., Bonalli M., Caflisch A., Frugier E., Winkler H.C.", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "reference": [ { "type": "PubMed", "id": "23474714", "url": "https://glygen.org/publication/PubMed/23474714" } ] }, { "title": "MACROD2 Haploinsufficiency Impairs Catalytic Activity of PARP1 and Promotes Chromosome Instability and Growth of Intestinal Tumors.", "journal": "Cancer discovery", "date": "2018", "authors": "Sakthianandeswaren A, Parsons MJ, Mouradov D, MacKinnon RN, Catimel B, Liu S, Palmieri M, Love C, Jorissen RN, Li S, Whitehead L, Putoczki TL, Preaudet A, Tsui C, Nowell CJ, Ward RL, Hawkins NJ, Desai J, Gibbs P, Ernst M, Street I, Buchert M, Sieber OM", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" } ], "reference": [ { "type": "PubMed", "id": "29880585", "url": "https://glygen.org/publication/PubMed/29880585" } ] }, { "title": "Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations.", "journal": "Cytogenetic and genome research", "date": "2019", "authors": "Lombardo B, Esposito D, Iossa S, Vitale A, Verdesca F, Perrotta C, Di Leo L, Costa V, Pastore L, Franze A", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" } ], "reference": [ { "type": "PubMed", "id": "31055587", "url": "https://glygen.org/publication/PubMed/31055587" } ] }, { "title": "Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome.", "journal": "Scientific reports", "date": "2020", "authors": "Zaja R, Aydin G, Lippok BE, Feederle R, Luscher B, Feijs KLH", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" } ], "reference": [ { "type": "PubMed", "id": "32427867", "url": "https://glygen.org/publication/PubMed/32427867" } ] }, { "title": "Human papilloma virus (HPV) integration signature in Cervical Cancer: identification of MACROD2 gene as HPV hot spot integration site.", "journal": "British journal of cancer", "date": "2021", "authors": "Kamal M, Lameiras S, Deloger M, Morel A, Vacher S, Lecerf C, Dupain C, Jeannot E, Girard E, Baulande S, Dubot C, Kenter G, Jordanova ES, Berns EMJJ, Bataillon G, Popovic M, Rouzier R, Cacheux W, Le Tourneau C, Nicolas A, Servant N, Scholl SM, Bieche I", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" } ], "reference": [ { "type": "PubMed", "id": "33191407", "url": "https://glygen.org/publication/PubMed/33191407" } ] }, { "title": "Association of MACROD2 gene variants with obesity and physical activity in a Korean population.", "journal": "Molecular genetics & genomic medicine", "date": "2021", "authors": "Kim HR, Jin HS, Eom YB", "evidence": [ { "database": "RefSeq", "id": "NP_001028259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028259" } ], "reference": [ { "type": "PubMed", "id": "33624934", "url": "https://glygen.org/publication/PubMed/33624934" } ] } ], "pathway": [ { "id": "hsa:140733", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:140733", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q3UYG8-1", "protein_name": "ADP-ribose glycohydrolase MACROD2", "gene_name": "Macrod2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MYPSNKKKKVWREEKERLLKMTLEERRKEYIRDYVSLSTILSWKEEMKSKGQNDEENTQEAPQMKKSLSEKVSLYRGDITLLEVDAIVNAANASLLGGGGVDGCIHRAAGPCLLAECRNLNGCETGHAKITCGYDLPAKYVIHTVGPIARGHINGSHKEDLANCYQSSLKLVKENNLRSVAFPCISTGIYGFPNEPAAVIALGTIKEWLAKNHQEVDRIIFCVFLEVDFKIYKKKMNEFFPVDDNNEGTDADMKEDSEGPEPKGLSPPHKKSKAKKPESSKDSSEDESGPEEKQTAEEMEGQSQEAGGLRFLLRNLLGLIHRDGVNTTPVPSPASEDKAEVHKDEDSAKDDNTVKDSDMTNHSVCDQELPNGQENDSAKSEGKTEAESPSSSMETEDLSPNQEDAAIVEQPEVIPLIDDQEAQEGGEAQGKDAPAVFAESQGSSEAENTSGPDVDMNSQVDGVNEPTESLQEDLQ", "length": 475 }, "evidence": [ { "id": "85987", "url": "http://www.informatics.jax.org/homology/85987", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "pmid": "23474712" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "cellular response to DNA damage stimulus", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "pmid": "23474712" }, { "name": "protein de-ADP-ribosylation", "id": "GO:0051725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051725", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "pmid": "23474712" }, { "name": "purine nucleoside metabolic process", "id": "GO:0042278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042278", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "pmid": "21257746" }, { "name": "peptidyl-glutamate ADP-deribosylation", "id": "GO:0140291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140291", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "pmid": "23474714" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "deacetylase activity", "id": "GO:0019213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019213", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "pmid": "21257746" }, { "name": "hydrolase activity, acting on glycosyl bonds", "id": "GO:0016798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016798", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "pmid": "23474712" }, { "name": "ADP-ribosylglutamate hydrolase activity", "id": "GO:0140293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140293", "evidence": [ { "database": "UniProtKB", "id": "A1Z1Q3", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ], "pmid": "23474714" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 154, "end_pos": 156, "annotation": "n_glycosylation_sequon" }, { "start_pos": 309, "end_pos": 311, "annotation": "n_glycosylation_sequon" }, { "start_pos": 332, "end_pos": 334, "annotation": "n_glycosylation_sequon" }, { "start_pos": 422, "end_pos": 424, "annotation": "n_glycosylation_sequon" }, { "start_pos": 92, "end_pos": 94, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "54428", "name": "", "equation": "4-O-(ADP-D-ribosyl)-L-aspartyl-[protein] + H2O = ADP-D-ribose + H(+) + L-aspartyl-[protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8K4G6-1", "A1Z1Q3-2", "Q9BQ69-1", "Q3UYG8-1", "Q922B1-1" ], "evidence": [ { "id": "54428", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54428" } ] }, { "id": "57060", "name": "", "equation": "2''-O-acetyl-ADP-D-ribose + H2O = acetate + ADP-D-ribose + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8K4G6-1", "Q9BQ69-1", "A1Z1Q3-2", "Q9Y530-1", "Q8R5F3-1", "Q922B1-1", "Q3UYG8-1" ], "evidence": [ { "id": "57060", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/57060" } ] }, { "id": "58248", "name": "", "equation": "5-O-(ADP-D-ribosyl)-L-glutamyl-[protein] + H2O = ADP-D-ribose + H(+) + L-glutamyl-[protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8K4G6-1", "A1Z1Q3-2", "Q9Y530-1", "Q9BQ69-1", "Q8R5F3-1", "Q3UYG8-1", "Q922B1-1" ], "evidence": [ { "id": "58248", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/58248" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A1Z1Q3", "gene_name": "MACROD2", "activity": [ { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "A1Z1Q3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "A1Z1Q3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A1Z1Q3" } ] } ] }, { "uniprot_ac": "Q3UYG8", "gene_name": "Macrod2", "activity": [ { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q3UYG8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UYG8" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q3UYG8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UYG8" } ] } ] }, { "uniprot_ac": "Q8K4G6", "gene_name": "Macrod1", "activity": [ { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q8K4G6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K4G6" } ] }, { "ec_number": "3.1.1.106", "activity": "2''-O-acetyl-ADP-D-ribose + H(2)O = ADP-D-ribose + acetate.", "evidence": [ { "id": "Q8K4G6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K4G6" } ] } ] }, { "uniprot_ac": "Q8R5F3", "gene_name": "Oard1", "activity": [ { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q8R5F3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R5F3" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q8R5F3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R5F3" } ] } ] }, { "uniprot_ac": "Q922B1", "gene_name": "Macrod1", "activity": [ { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q922B1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q922B1" } ] }, { "ec_number": "3.1.1.106", "activity": "2''-O-acetyl-ADP-D-ribose + H(2)O = ADP-D-ribose + acetate.", "evidence": [ { "id": "Q922B1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q922B1" } ] } ] }, { "uniprot_ac": "Q9BQ69", "gene_name": "MACROD1", "activity": [ { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q9BQ69", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BQ69" } ] }, { "ec_number": "3.1.1.106", "activity": "2''-O-acetyl-ADP-D-ribose + H(2)O = ADP-D-ribose + acetate.", "evidence": [ { "id": "Q9BQ69", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BQ69" } ] } ] }, { "uniprot_ac": "Q9Y530", "gene_name": "OARD1", "activity": [ { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q9Y530", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y530" } ] }, { "ec_number": "3.2.2.-", "activity": "", "evidence": [ { "id": "Q9Y530", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y530" } ] } ] } ], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ] }