{ "uniprot_canonical_ac": "O75106-1", "uniprot_ac": "O75106", "uniprot_id": "AOC2_HUMAN", "mass": { "chemical_mass": 83673.0, "monoisotopic_mass": 83673.0 }, "refseq": { "ac": "NP_001149", "name": "retina-specific copper amine oxidase isoform a", "summary": "Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001149" }, "gene_names": [ { "name": "AOC2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75106", "id": "O75106" }, { "name": "AOC2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001149", "id": "NP_001149" }, { "name": "DAO2; RAO; SSAO", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001149", "id": "NP_001149" } ], "protein_names": [ { "name": "Retina-specific copper amine oxidase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75106" }, { "name": "1.4.3.21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75106" }, { "name": "Amine oxidase [copper-containing]", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75106" }, { "name": "RAO", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75106" }, { "name": "SSAO", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75106" }, { "name": "Semicarbazide-sensitive amine oxidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75106" }, { "name": "retina-specific copper amine oxidase isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001149", "id": "NP_001149" }, { "name": "retina-specific copper amine oxidase; semicarbazide-sensitive amine oxidase; amine oxidase, copper containing 2 (retina-specific)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001149", "id": "NP_001149" } ], "function": [ { "annotation": "AOC2 mRNA is expressed in many tissues, however, the only tissues with detectable AOC2-like enzyme activity is found in the eye.", "evidence": [ { "database": "RefSeq", "id": "NP_001149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001149" }, { "database": "PubMed", "id": "19588076", "url": "https://glygen.org/publication/PubMed/19588076" } ] }, { "annotation": "Adipose tissue SSAO activity did not vary according to anatomical location and/or metabolic status in severely obese women. Erratum:[J Physiol Biochem. 2017 Oct 5;:. PMID: 28983875]", "evidence": [ { "database": "RefSeq", "id": "NP_001149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001149" }, { "database": "PubMed", "id": "27766585", "url": "https://glygen.org/publication/PubMed/27766585" } ] }, { "annotation": "Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001149" } ] }, { "annotation": "Has a monoamine oxidase activity with substrate specificity for 2-phenylethylamine and tryptamine. May play a role in adipogenesis. May be a critical modulator of signal transmission in retina.", "evidence": [ { "database": "UniProtKB", "id": "O75106", "url": "https://www.uniprot.org/uniprot/O75106#function" }, { "database": "PubMed", "id": "19588076", "url": "https://glygen.org/publication/PubMed/19588076" }, { "database": "PubMed", "id": "17400359", "url": "https://glygen.org/publication/PubMed/17400359" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs746338247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746338247" }, { "id": "rs746338247", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746338247" }, { "id": "rs746338247", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746338247#frequency_tab" }, { "id": "rs746338247", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746338247" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 198, "end_pos": 198, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS); n-glyco-sequon-gain (NYN->NYS).", "chr_id": "17", "chr_pos": "42845219", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N198", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1269957701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1269957701" }, { "id": "rs1269957701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1269957701" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 133, "end_pos": 133, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->SVS).", "chr_id": "17", "chr_pos": "42845024", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs142031867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142031867" }, { "id": "rs142031867", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142031867" }, { "id": "rs142031867", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142031867#frequency_tab" }, { "id": "rs142031867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142031867" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 198, "end_pos": 198, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->DGS).", "chr_id": "17", "chr_pos": "42845218", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N198", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs142031867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142031867" }, { "id": "rs142031867", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142031867" }, { "id": "rs142031867", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142031867#frequency_tab" }, { "id": "rs142031867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142031867" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 198, "end_pos": 198, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->HGS).", "chr_id": "17", "chr_pos": "42845218", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N198", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1462906921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1462906921" }, { "id": "rs1462906921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1462906921" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 380, "end_pos": 380, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "17", "chr_pos": "42845764", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D380", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1205382813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1205382813" }, { "id": "rs1205382813", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1205382813#frequency_tab" }, { "id": "rs1205382813", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1205382813" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 478, "end_pos": 478, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "17", "chr_pos": "42846058", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A478", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758525753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758525753" }, { "id": "rs758525753", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758525753" }, { "id": "rs758525753", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758525753#frequency_tab" }, { "id": "rs758525753", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758525753" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 484, "end_pos": 484, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HAT->NAT).", "chr_id": "17", "chr_pos": "42846076", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H484", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748742531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748742531" }, { "id": "rs748742531", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748742531" }, { "id": "rs748742531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748742531#frequency_tab" }, { "id": "rs748742531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748742531" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 662, "end_pos": 662, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->SET).", "chr_id": "17", "chr_pos": "42849711", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N662", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs267604891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267604891" }, { "id": "rs267604891", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267604891" }, { "id": "rs267604891", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs267604891" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 664, "end_pos": 664, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->NEI).", "chr_id": "17", "chr_pos": "42849717", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T664", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "61.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "46.32", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "68.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "55.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "58.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "58.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "60.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "65.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "64.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131480" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75106", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75106" } ], "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": 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"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, 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"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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75106", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75106" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"header": "sp|O75106-1|AOC2_HUMAN Isoform 1 of Retina-specific copper amine oxidase OS=Homo sapiens OX=9606 GN=AOC2 PE=1 SV=2 CANONICAL=O75106-1" }, "locus": { "chromosome": "17", "start_pos": 42850345, "end_pos": 42844627, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000253799.8", "url": "https://www.ensembl.org/id/ENST00000253799.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000253799.2", "url": "https://www.ensembl.org/id/ENSP00000253799.2" } ] } }, { "isoform_ac": "O75106-2", "url": "", "sequence": { "sequence": "MHLKIVLAFLALSLITIFALAYVLLTSPGGSSQPPHCPSVSHRAQPWPHPGQSQLFADLSREELTAVMRFLTQRLGPGLVDAAQAQPSDNCIFSVELQLPPKAAALAHLDRGSPPPAREALAIVLFGGQPQPNVSELVVGPLPHPSYMRDVTVERHGGPLPYHRRPVLRAEFTQMWRHLKEVELPKAPIFLSSTFNYNGSTLAAVHATPRGLRSGDRATWMALYHNISGVGLFLHPVGLELLLDHRALDPAHWTVQQVFYLGHYYADLGQLEREFKSGRLEVVRVPLPPPNGASSLRSRNSPGPLPPLQFSPQGSQYSVQGNLVVSSLWSFTFGHGVFSGLRIFDVRFQGERIAYEVSVQECVSIYGADSPKTMLTRYLDSSFGLGRNSRGLVRGVDCPYQATMVDIHILVGKGAVQLLPGAVCVFEEAQGLPLRRHHNYLQNHFYGGLASSALVVRSVSSVGNYDYIWDFVLYPNGALEGRVHATGYINTAFLKGGEEGLLFGNRVGERVLGTVHTHAFHFKLDLDVAGLKNWVVAEDVVFKPVAAPWNPEHWLQRPQLTRQVLGKEDLTAFSLGSPLPRYLYLASNQTNAWGHQRGYQLVVTQRKEEESQSSSIYHQNDIWTPTVTFADFINNETLLGEDLVAWVTASFLHIPHAEDIPNTVTLGNRVGFLLRPYNFFDEDPSIFSPGSVYFEKGQDAGLCSINPVACLPDLAACVPDLPPFSYHGF", "length": 729, "header": "sp|O75106-2|AOC2_HUMAN Isoform 2 of Retina-specific copper amine oxidase OS=Homo sapiens OX=9606 GN=AOC2 PE=1 SV=2 CANONICAL=O75106-1" }, "locus": { "chromosome": "17", "start_pos": 42850345, "end_pos": 42844627, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452774.2", "url": "https://www.ensembl.org/id/ENST00000452774.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000406134.1", "url": "https://www.ensembl.org/id/ENSP00000406134.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "1714", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1714" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "1714", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1714" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "O75106", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75106#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "O75106", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75106#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 226, "start_aa": "Asn", "end_pos": 226, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn226", "evidence": [ { "id": "O75106", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75106#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "Complex", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) (complex) asparagine Complex", "start_pos": 588, "start_aa": "Asn", "end_pos": 588, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn588", "evidence": [ { "id": "O75106", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75106#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 662, "start_aa": "Asn", "end_pos": 662, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn662", "evidence": [ { "id": "O75106", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75106#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Nefazodone, meta-chlorophenylpiperazine, and their metabolites in vitro: cytochromes mediating transformation, and P450-3A4 inhibitory actions.", "journal": "Psychopharmacology", "date": "1999", "authors": "von Moltke LL, Greenblatt DJ, Granda BW, Grassi JM, Schmider J, Harmatz JS, Shader RI", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "10445380", "url": "https://glygen.org/publication/PubMed/10445380" } ] }, { "title": "Bioactivation of 5-(aziridin-1-yl)-2,4-dinitrobenzamide (CB 1954) by human NAD(P)H quinone oxidoreductase 2: a novel co-substrate-mediated antitumor prodrug therapy.", "journal": "Cancer research", "date": "2000", "authors": "Knox RJ, Jenkins TC, Hobbs SM, Chen S, Melton RG, Burke PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "10945627", "url": "https://glygen.org/publication/PubMed/10945627" } ] }, { "title": "Epoxide hydrolases: biochemistry and molecular biology.", "journal": "Chemico-biological interactions", "date": "2000", "authors": "Fretland AJ, Omiecinski CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "11154734", "url": "https://glygen.org/publication/PubMed/11154734" } ] }, { "title": "Inhibitory effects of verapamil and diltiazem on simvastatin metabolism in human liver microsomes.", "journal": "British journal of clinical pharmacology", "date": "2001", "authors": "Yeo KR, Yeo WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "11422004", "url": "https://glygen.org/publication/PubMed/11422004" } ] }, { "title": "Crystal structure of human carboxylesterase 1 complexed with the Alzheimer's drug tacrine: from binding promiscuity to selective inhibition.", "journal": "Chemistry & biology", "date": "2003", "authors": "Bencharit S, Morton CL, Hyatt JL, Kuhn P, Danks MK, Potter PM, Redinbo MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "12725862", "url": "https://glygen.org/publication/PubMed/12725862" } ] }, { "title": "Identification of a human valacyclovirase: biphenyl hydrolase-like protein as valacyclovir hydrolase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Kim I, Chu XY, Kim S, Provoda CJ, Lee KD, Amidon GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "12732646", "url": "https://glygen.org/publication/PubMed/12732646" } ] }, { "title": "High expression of semicarbazide-sensitive amine oxidase genes AOC2 and AOC3, but not the diamine oxidase gene AOC1 in human adipocytes.", "journal": "Inflamm. Res.", "date": "2003", "authors": "Heniquez A, Meissonnier G, Visentin V, Pr\u00e9vot D, Carp\u00e9n\u00e9 C", "evidence": [ { "database": "UniProtKB", "id": "O75106", "url": "https://www.uniprot.org/uniprot/O75106" } ], "reference": [ { "type": "PubMed", "id": "12755418", "url": "https://glygen.org/publication/PubMed/12755418" } ] }, { "title": "Wine, alcohol, platelets, and the French paradox for coronary heart disease.", "journal": "Lancet (London, England)", "date": "1992", "authors": "Renaud S, de Lorgeril M", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "1351198", "url": "https://glygen.org/publication/PubMed/1351198" } ] }, { "title": "Crystal structure of quinone reductase 2 in complex with resveratrol.", "journal": "Biochemistry", "date": "2004", "authors": "Buryanovskyy L, Fu Y, Boyd M, Ma Y, Hsieh TC, Wu JM, Zhang Z", "evidence": [ { "database": 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"id": "Q64133", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64133" } ] }, { "ec_number": "1.4.3.4", "activity": "", "evidence": [ { "id": "Q64133", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64133" } ] }, { "ec_number": "1.4.3.21", "activity": "", "evidence": [ { "id": "Q64133", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64133" } ] } ] }, { "uniprot_ac": "Q812C9", "gene_name": "Aoc2", "activity": [ { "ec_number": "1.4.3.-", "activity": "", "evidence": [ { "id": "Q812C9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q812C9" } ] }, { "ec_number": "1.4.3.21", "activity": "3-nitrotyramine + H2O + O2 = 4-hydroxy-3-nitrophenylacetaldehyde + H2O2 + NH4(+).", "evidence": [ { "id": "Q812C9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q812C9" } ] }, { "ec_number": "1.4.3.21", "activity": "", "evidence": [ { "id": "Q812C9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q812C9" } ] } ] }, { "uniprot_ac": "Q8BW75", "gene_name": "Maob", "activity": [ { "ec_number": "1.4.3.-", "activity": "", "evidence": [ { "id": "Q8BW75", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BW75" } ] }, { "ec_number": "1.4.3.4", "activity": "a secondary aliphatic amine + H2O + O2 = a primary amine + an aldehyde + H2O2.", "evidence": [ { "id": "Q8BW75", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BW75" } ] }, { "ec_number": "1.4.3.21", "activity": "3-nitrotyramine + H2O + O2 = 4-hydroxy-3-nitrophenylacetaldehyde + H2O2 + NH4(+).", "evidence": [ { "id": "Q8BW75", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BW75" } ] }, { "ec_number": "1.4.3.21", "activity": "", "evidence": [ { "id": "Q8BW75", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BW75" } ] }, { "ec_number": "1.4.3.4", "activity": "", "evidence": [ { "id": "Q8BW75", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BW75" } ] } ] } ], "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": [ 133, 198, 226, 588, 662 ], "o_linked_sites": [], "snv_sites": [ 133, 198, 380, 478, 484, 662, 664 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 133, "end_pos": 135 }, { "start_pos": 198, "end_pos": 200 }, { "start_pos": 226, "end_pos": 228 }, { "start_pos": 588, "end_pos": 590 }, { "start_pos": 662, "end_pos": 664 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 51 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }