{ "uniprot_canonical_ac": "O15018-1", "uniprot_ac": "O15018", "uniprot_id": "PDZD2_HUMAN", "mass": { "chemical_mass": 301641.0, "monoisotopic_mass": 301641.0 }, "refseq": { "ac": "NP_835260", "name": "PDZ domain-containing protein 2", "summary": "The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" }, "gene_names": [ { "name": "PDZD2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15018", "id": "O15018" }, { "name": "AIPC; PAPIN; PDZK3; PIN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260", "id": "NP_835260" }, { "name": "AIPC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15018", "id": "O15018" }, { "name": "KIAA0300", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15018", "id": "O15018" }, { "name": "PDZD2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260", "id": "NP_835260" }, { "name": "PDZK3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15018", "id": "O15018" } ], "protein_names": [ { "name": "PDZ domain-containing protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15018" }, { "name": "Activated in prostate cancer protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15018" }, { "name": "PDZ domain-containing protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260", "id": "NP_835260" }, { "name": "PDZ domain-containing protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15018" }, { "name": "activated in prostate cancer protein; PDZ domain-containing protein 3; plakophilin-related armadillo repeat protein-interactive PDZ protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260", "id": "NP_835260" } ], "function": [ { "annotation": "Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" }, { "database": "PubMed", "id": "21061259", "url": "https://glygen.org/publication/PubMed/21061259" } ] }, { "annotation": "Study results revealed that MG-63 osteosarcoma cells contained low levels of miR-363, and that overexpression of miR-363 in MG-63 cells significantly inhibited the vitality, proliferation, and colony formation ability of the cells. Bioinformatics analysis and luciferase reporter assay indicated that PDZD2 was a direct target of miR-363. In vivo xenograft model further confirmed that miR-363 functioned as tumor suppressor.", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" }, { "database": "PubMed", "id": "30896877", "url": "https://glygen.org/publication/PubMed/30896877" } ] }, { "annotation": "The DNA copy number variations disrupt PDZD2 and GOLPH3 genes predominantly expressed in placenta, and it may represent a novel risk factor for recurrent miscarriage.", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" }, { "database": "PubMed", "id": "24827138", "url": "https://glygen.org/publication/PubMed/24827138" } ] }, { "annotation": "The first reported multi-PDZ protein that is processed by proteolytic cleavage to generate a secreted peptide containing two PDZ domains", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" }, { "database": "PubMed", "id": "12671685", "url": "https://glygen.org/publication/PubMed/12671685" } ] }, { "annotation": "The mitogenic effect of secreted PDZD2 was concentration-dependent, and was associated with a slight inhibition of the insulin promoter activity at high sPDZD2 concentrations.", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" }, { "database": "PubMed", "id": "16413998", "url": "https://glygen.org/publication/PubMed/16413998" } ] }, { "annotation": "The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" } ] }, { "annotation": "This study does not support the association of PDZD2, GOLPH3, and MTMR12 genes with schizophrenia.", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" }, { "database": "PubMed", "id": "21451436", "url": "https://glygen.org/publication/PubMed/21451436" } ] }, { "annotation": "We systematically evaluating RCC risk-associated SNPs indentified from previous GWAS in a Chinese population, finding that one SNP located in PDZD2 and two SNPs located in ITPR2 were ccRCC-risk associated in Chinese population.", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" }, { "database": "PubMed", "id": "26918600", "url": "https://glygen.org/publication/PubMed/26918600" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1156314110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1156314110" }, { "id": "rs1156314110", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1156314110#frequency_tab" }, { "id": "rs1156314110", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1156314110" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1101, "end_pos": 1101, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TGS->NGS).", "chr_id": "5", "chr_pos": "32074408", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775402010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775402010" }, { "id": "rs775402010", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775402010" }, { "id": "rs775402010", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775402010" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1129, "end_pos": 1129, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KRS->NRS).", "chr_id": "5", "chr_pos": "32074493", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1345684620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1345684620" }, { "id": "rs1345684620", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1345684620#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1152, "end_pos": 1152, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDP->NDS).", "chr_id": "5", "chr_pos": "32074560", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1472538791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472538791" }, { "id": "rs1472538791", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1472538791#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1167, "end_pos": 1167, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "5", "chr_pos": "32074606", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1167", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15018", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15018" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1215, "end_pos": 1215, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "5", "chr_pos": "32077567", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1215", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1421604123", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421604123" }, { "id": "rs1421604123", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1421604123#frequency_tab" }, { "id": "rs1421604123", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421604123" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1301, "end_pos": 1301, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "5", "chr_pos": "32087349", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1301", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781518151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781518151" }, { "id": "rs781518151", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781518151" }, { "id": "rs781518151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781518151" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1318, "end_pos": 1318, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTR->NTS).", "chr_id": "5", "chr_pos": "32087402", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1407176460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407176460" }, { "id": "rs1407176460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1407176460" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1512, "end_pos": 1512, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HFT->NFT).", "chr_id": "5", "chr_pos": "32087982", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H1512", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15018", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15018" } ], "glycoeffect": [], "start_pos": 1554, "end_pos": 1554, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "32088108", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1554", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "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 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", 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"MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15018", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15018" } ], "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": "" }, { 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{ "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15018", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15018" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15018", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15018" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "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": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "common_name": "Human" } ], "gene": [ { "name": "PDZD2", "url": "https://www.uniprot.org/uniprot/O15018", "locus": { "chromosome": "5", "start_pos": 32110932, "end_pos": 31639131, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000133401", "url": "https://www.ensembl.org/id/ENSG00000133401" } ] } } ], "crossref": [ { "id": "ENSG00000133401", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133401", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15018", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15018", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00992", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00992", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "PDZD2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PDZD2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "23037", "url": "https://www.ncbi.nlm.nih.gov/gene/23037", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "18486", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18486", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15018", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15018*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001478", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001478", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036034", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036034", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23037", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23037", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "610697", "url": "http://www.omim.org/entry/610697", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15018", "url": "https://www.nextprot.org/entry/NX_O15018", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15018", "url": "https://oglcnac.org/atlas/detail/O15018", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15018", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15018", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "TRRHYYY", "url": "https://omabrowser.org/oma/group/TRRHYYY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2915005at2759", "url": "http://www.orthodb.org/?query=2915005at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11324", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11324", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11324:SF16", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11324:SF16", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00595", "url": "http://pfam.xfam.org/family/PF00595", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15018", "url": "https://pharos.nih.gov/targets/O15018", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15018", "url": "http://purl.obolibrary.org/obo/PR_O15018", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "D6RF66", "url": "https://www.uniprot.org/uniprot/D6RF66", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RF66-1", "url": "https://www.uniprot.org/uniprot/D6RF66-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15018-1", "url": "https://www.uniprot.org/uniprot/O15018-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15018-2", "url": "https://www.uniprot.org/uniprot/O15018-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPITQDNAVLHLPLLYQWLQNSLQEGGDGPEQRLCQAAIQKLQEYIQLNFAVDESTVPPDHSPPEMEICTVYLTKELGDTETVGLSFGNIPVFGDYGEKRRGGKKRKTHQGPVLDVGCIWVTELRKNSPAGKSGKVRLRDEILSLNGQLMVGVDVSGASYLAEQCWNGGFIYLIMLRRFKHKAHSTYNGNSSNSSEPGETPTLELGDRTAKKGKRTRKFGVISRPPANKAPEESKGSAGCEVSSDPSTELENGPDPELGNGHVFQLENGPDSLKEVAGPHLERSEVDRGTEHRIPKTDAPLTTSNDKRRFSKGGKTDFQSSDCLAREEVGRIWKMELLKESDGLGIQVSGGRGSKRSPHAIVVTQVKEGGAAHRDGRLSLGDELLVINGHLLVGLSHEEAVAILRSATGMVQLVVASKENSAEDLLRLTSKSLPDLTSSVEDVSSWTDNEDQEADGEEDEGTSSSVQRAMPGTDEPQDVCGAEESKGNLESPKQGSNKIKLKSRLSGGVHRLESVEEYNELMVRNGDPRIRMLEVSRDGRKHSLPQLLDSSSASQEYHIVKKSTRSLSTTQVESPWRLIRPSVISIIGLYKEKGKGLGFSIAGGRDCIRGQMGIFVKTIFPNGSAAEDGRLKEGDEILDVNGIPIKGLTFQEAIHTFKQIRSGLFVLTVRTKLVSPSLTPCSTPTHMSRSASPNFNTSGGASAGGSDEGSSSSLGRKTPGPKDRIVMEVTLNKEPRVGLGIGACCLALENSPPGIYIHSLAPGSVAKMESNLSRGDQILEVNSVNVRHAALSKVHAILSKCPPGPVRLVIGRHPNPKVSEQEMDEVIARSTYQESKEANSSPGLGTPLKSPSLAKKDSLISESELSQYFAHDVPGPLSDFMVAGSEDEDHPGSGCSTSEEGSLPPSTSTHKEPGKPRANSLVTLGSHRASGLFHKQVTVARQASLPGSPQALRNPLLRQRKVGCYDANDASDEEEFDREGDCISLPGALPGPIRPLSEDDPRRVSISSSKGMDVHNQEERPRKTLVSKAISAPLLGSSVDLEESIPEGMVDAASYAANLTDSAEAPKGSPGSWWKKELSGSSSAPKLEYTVRTDTQSPTNTGSPSSPQQKSEGLGSRHRPVARVSPHCKRSEAEAKPSGSQTVNLTGRANDPCDLDSRVQATSVKVTVAGFQPGGAVEKESLGKLTTGDACVSTSCELASALSHLDASHLTENLPKAASELGQQPMTELDSSSDLISSPGKKGAAHPDPSKTSVDTGQVSRPENPSQPASPRVTKCKARSPVRLPHEGSPSPGEKAAAPPDYSKTRSASETSTPHNTRRVAALRGAGPGAEGMTPAGAVLPGDPLTSQEQRQGAPGNHSKALEMTGIHAPESSQEPSLLEGADSVSSRAPQASLSMLPSTDNTKEACGHVSGHCCPGGSRESPVTDIDSFIKELDASAARSPSSQTGDSGSQEGSAQGHPPAGAGGGSSCRAEPVPGGQTSSPRRAWAAGAPAYPQWASQPSVLDSINPDKHFTVNKNFLSNYSRNFSSFHEDSTSLSGLGDSTEPSLSSMYGDAEDSSSDPESLTEAPRASARDGWSPPRSRVSLHKEDPSESEEEQIEICSTRGCPNPPSSPAHLPTQAAICPASAKVLSLKYSTPRESVASPREKAACLPGSYTSGPDSSQPSSLLEMSSQEHETHADISTSQNHRPSCAEETTEVTSASSAMENSPLSKVARHFHSPPIILSSPNMVNGLEHDLLDDETLNQYETSINAAASLSSFSVDVPKNGESVLENLHISESQDLDDLLQKPKMIARRPIMAWFKEINKHNQGTHLRSKTEKEQPLMPARSPDSKIQMVSSSQKKGVTVPHSPPQPKTNLENKDLSKKSPAEMLLTNGQKAKCGPKLKRLSLKGKAKVNSEAPAANAVKAGGTDHRKPLISPQTSHKTLSKAVSQRLHVADHEDPDRNTTAAPRSPQCVLESKPPLATSGPLKPSVSDTSIRTFVSPLTSPKPVPEQGMWSRFHMAVLSEPDRGCPTTPKSPKCRAEGRAPRADSGPVSPAASRNGMSVAGNRQSEPRLASHVAADTAQPRPTGEKGGNIMASDRLERTNQLKIVEISAEAVSETVCGNKPAESDRRGGCLAQGNCQEKSEIRLYRQVAESSTSHPSSLPSHASQAEQEMSRSFSMAKLASSSSSLQTAIRKAEYSQGKSSLMSDSRGVPRNSIPGGPSGEDHLYFTPRPATRTYSMPAQFSSHFGREGHPPHSLGRSRDSQVPVTSSVVPEAKASRGGLPSLANGQGIYSVKPLLDTSRNLPATDEGDIISVQETSCLVTDKIKVTRRHYCYEQNWPHESTSFFSVKQRIKSFENLANADRPVAKSGASPFLSVSSKPPIGRRSSGSIVSGSLGHPGDAAARLLRRSLSSCSENQSEAGTLLPQMAKSPSIMTLTISRQNPPETSSKGSDSELKKSLGPLGIPTPTMTLASPVKRNKSSVRHTQPSPVSRSKLQELRALSMPDLDKLCSEDYSAGPSAVLFKTELEITPRRSPGPPAGGVSCPEKGGNRACPGGSGPKTSAAETPSSASDTGEAAQDLPFRRSWSVNLDQLLVSAGDQQRLQSVLSSVGSKSTILTLIQEAKAQSENEEDVCFIVLNRKEGSGLGFSVAGGTDVEPKSITVHRVFSQGAASQEGTMNRGDFLLSVNGASLAGLAHGNVLKVLHQAQLHKDALVVIKKGMDQPRPSARQEPPTANGKGLLSRKTIPLEPGIGRSVAVHDALCVEVLKTSAGLGLSLDGGKSSVTGDGPLVIKRVYKGGAAEQAGIIEAGDEILAINGKPLVGLMHFDAWNIMKSVPEGPVQLLIRKHRNSS", "length": 2839, "header": "sp|O15018-1|PDZD2_HUMAN Isoform 1 of PDZ domain-containing protein 2 OS=Homo sapiens OX=9606 GN=PDZD2 PE=1 SV=4 CANONICAL=O15018-1" }, "isoforms": [ { "isoform_ac": "D6RF66-1", "url": "", "sequence": { "sequence": "MPITQDNAVLHLP", "length": 13, "header": "tr|D6RF66-1|D6RF66_HUMAN Computationally mapped isoform of PDZ domain containing 2 OS=Homo sapiens OX=9606 GN=PDZD2 PE=4 SV=8 CANONICAL=O15018-1" }, "locus": { "chromosome": "5", "start_pos": 31799287, "end_pos": 31799249, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513910.1", "url": "https://www.ensembl.org/id/ENST00000513910.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000424901.1", "url": "https://www.ensembl.org/id/ENSP00000424901.1" } ] } }, { "isoform_ac": "O15018-1", "url": "", "sequence": { "sequence": "MPITQDNAVLHLPLLYQWLQNSLQEGGDGPEQRLCQAAIQKLQEYIQLNFAVDESTVPPDHSPPEMEICTVYLTKELGDTETVGLSFGNIPVFGDYGEKRRGGKKRKTHQGPVLDVGCIWVTELRKNSPAGKSGKVRLRDEILSLNGQLMVGVDVSGASYLAEQCWNGGFIYLIMLRRFKHKAHSTYNGNSSNSSEPGETPTLELGDRTAKKGKRTRKFGVISRPPANKAPEESKGSAGCEVSSDPSTELENGPDPELGNGHVFQLENGPDSLKEVAGPHLERSEVDRGTEHRIPKTDAPLTTSNDKRRFSKGGKTDFQSSDCLAREEVGRIWKMELLKESDGLGIQVSGGRGSKRSPHAIVVTQVKEGGAAHRDGRLSLGDELLVINGHLLVGLSHEEAVAILRSATGMVQLVVASKENSAEDLLRLTSKSLPDLTSSVEDVSSWTDNEDQEADGEEDEGTSSSVQRAMPGTDEPQDVCGAEESKGNLESPKQGSNKIKLKSRLSGGVHRLESVEEYNELMVRNGDPRIRMLEVSRDGRKHSLPQLLDSSSASQEYHIVKKSTRSLSTTQVESPWRLIRPSVISIIGLYKEKGKGLGFSIAGGRDCIRGQMGIFVKTIFPNGSAAEDGRLKEGDEILDVNGIPIKGLTFQEAIHTFKQIRSGLFVLTVRTKLVSPSLTPCSTPTHMSRSASPNFNTSGGASAGGSDEGSSSSLGRKTPGPKDRIVMEVTLNKEPRVGLGIGACCLALENSPPGIYIHSLAPGSVAKMESNLSRGDQILEVNSVNVRHAALSKVHAILSKCPPGPVRLVIGRHPNPKVSEQEMDEVIARSTYQESKEANSSPGLGTPLKSPSLAKKDSLISESELSQYFAHDVPGPLSDFMVAGSEDEDHPGSGCSTSEEGSLPPSTSTHKEPGKPRANSLVTLGSHRASGLFHKQVTVARQASLPGSPQALRNPLLRQRKVGCYDANDASDEEEFDREGDCISLPGALPGPIRPLSEDDPRRVSISSSKGMDVHNQEERPRKTLVSKAISAPLLGSSVDLEESIPEGMVDAASYAANLTDSAEAPKGSPGSWWKKELSGSSSAPKLEYTVRTDTQSPTNTGSPSSPQQKSEGLGSRHRPVARVSPHCKRSEAEAKPSGSQTVNLTGRANDPCDLDSRVQATSVKVTVAGFQPGGAVEKESLGKLTTGDACVSTSCELASALSHLDASHLTENLPKAASELGQQPMTELDSSSDLISSPGKKGAAHPDPSKTSVDTGQVSRPENPSQPASPRVTKCKARSPVRLPHEGSPSPGEKAAAPPDYSKTRSASETSTPHNTRRVAALRGAGPGAEGMTPAGAVLPGDPLTSQEQRQGAPGNHSKALEMTGIHAPESSQEPSLLEGADSVSSRAPQASLSMLPSTDNTKEACGHVSGHCCPGGSRESPVTDIDSFIKELDASAARSPSSQTGDSGSQEGSAQGHPPAGAGGGSSCRAEPVPGGQTSSPRRAWAAGAPAYPQWASQPSVLDSINPDKHFTVNKNFLSNYSRNFSSFHEDSTSLSGLGDSTEPSLSSMYGDAEDSSSDPESLTEAPRASARDGWSPPRSRVSLHKEDPSESEEEQIEICSTRGCPNPPSSPAHLPTQAAICPASAKVLSLKYSTPRESVASPREKAACLPGSYTSGPDSSQPSSLLEMSSQEHETHADISTSQNHRPSCAEETTEVTSASSAMENSPLSKVARHFHSPPIILSSPNMVNGLEHDLLDDETLNQYETSINAAASLSSFSVDVPKNGESVLENLHISESQDLDDLLQKPKMIARRPIMAWFKEINKHNQGTHLRSKTEKEQPLMPARSPDSKIQMVSSSQKKGVTVPHSPPQPKTNLENKDLSKKSPAEMLLTNGQKAKCGPKLKRLSLKGKAKVNSEAPAANAVKAGGTDHRKPLISPQTSHKTLSKAVSQRLHVADHEDPDRNTTAAPRSPQCVLESKPPLATSGPLKPSVSDTSIRTFVSPLTSPKPVPEQGMWSRFHMAVLSEPDRGCPTTPKSPKCRAEGRAPRADSGPVSPAASRNGMSVAGNRQSEPRLASHVAADTAQPRPTGEKGGNIMASDRLERTNQLKIVEISAEAVSETVCGNKPAESDRRGGCLAQGNCQEKSEIRLYRQVAESSTSHPSSLPSHASQAEQEMSRSFSMAKLASSSSSLQTAIRKAEYSQGKSSLMSDSRGVPRNSIPGGPSGEDHLYFTPRPATRTYSMPAQFSSHFGREGHPPHSLGRSRDSQVPVTSSVVPEAKASRGGLPSLANGQGIYSVKPLLDTSRNLPATDEGDIISVQETSCLVTDKIKVTRRHYCYEQNWPHESTSFFSVKQRIKSFENLANADRPVAKSGASPFLSVSSKPPIGRRSSGSIVSGSLGHPGDAAARLLRRSLSSCSENQSEAGTLLPQMAKSPSIMTLTISRQNPPETSSKGSDSELKKSLGPLGIPTPTMTLASPVKRNKSSVRHTQPSPVSRSKLQELRALSMPDLDKLCSEDYSAGPSAVLFKTELEITPRRSPGPPAGGVSCPEKGGNRACPGGSGPKTSAAETPSSASDTGEAAQDLPFRRSWSVNLDQLLVSAGDQQRLQSVLSSVGSKSTILTLIQEAKAQSENEEDVCFIVLNRKEGSGLGFSVAGGTDVEPKSITVHRVFSQGAASQEGTMNRGDFLLSVNGASLAGLAHGNVLKVLHQAQLHKDALVVIKKGMDQPRPSARQEPPTANGKGLLSRKTIPLEPGIGRSVAVHDALCVEVLKTSAGLGLSLDGGKSSVTGDGPLVIKRVYKGGAAEQAGIIEAGDEILAINGKPLVGLMHFDAWNIMKSVPEGPVQLLIRKHRNSS", "length": 2839, "header": "sp|O15018-1|PDZD2_HUMAN Isoform 1 of PDZ domain-containing protein 2 OS=Homo sapiens OX=9606 GN=PDZD2 PE=1 SV=4 CANONICAL=O15018-1" }, "locus": { "chromosome": "5", "start_pos": 32108132, "end_pos": 31799249, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438447.2", "url": "https://www.ensembl.org/id/ENST00000438447.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000402033.1", "url": "https://www.ensembl.org/id/ENSP00000402033.1" } ] } }, { "isoform_ac": "O15018-2", "url": "", "sequence": { "sequence": "MPITQDNAVLHLPLLYQWLQNSLQEGGDGPEQRLCQAAIQKLQEYIQLNFAVDESTVPPDHSPPEMEICTVYLTKELGDTETVGLSFGNIPVFGDYGEKRRGGKKRKTHQGPVLDVGCIWVTELRKNSPAGKSGKVRLRDEILSLNGQLMVGVDVSGASYLAEQCWNGGFIYLIMLRRFKHKAHSTYNGNSSNSSEPGETPTLELGDRTAKKGKRTRKFGVISRPPANKAPEESKGSAGCEVSSDPSTELENGPDPELGNGHVFQLENGPDSLKEVAGPHLERSEVDRGTEHRIPKTDAPLTTSNDKRRFSKGGKTDFQSSDCLAREEVGRIWKMELLKESDGLGIQVSGGRGSKRSPHAIVVTQVKEGGAAHREYHIVKKSTRSLSTTQVESPWRLIRPSVISIIGLYKEKGKGLGFSIAGGRDCIRGQMGIFVKTIFPNGSAAEDGRLKEGDEILDVNGIPIKGLTFQEAIHTFKQIRSGLFVLTVRTKLVSPSLTPCSTPTHMSRSASPNFNTSGGASAGGSDEGSSSSLGRKTPGPKDRIVMEVTLNKEPRVGLGIGACCLALENSPPGIYIHSLAPGSVAKMESNLSRGDQILEVNSVNVRHAALSKVHAILSKCPVSEQEMDEVIARSTYQESKEANSSPGLGTPLKSPSLAKKDSLISESELSQYFAHDVPGPLSDFMVAGSEDEDHPGSGCSTSEEGSLPPSTSSEPGKPRANSLVTLGSHRASGLFHKQVTVARQASLPGSPQALRNPLLRQRKVGCYDANDASDEEEFDREGDCISLPGALPGPIRPLSEDDPRRVSISSSKGMDVHNQEERPRKTLVSKAISAPLLGSSVDLEESIPEGMVDAASYAANLTDSAEAPKGSPGSWWKKELSGSSSAPKLEYTVRTDTQSPTNTGSPSSPQQKSEGLGSRHRPVARVSPHCKRSEAEAKPSGSQTVNLTGRANDPCDLDSRVQATSVKVTVAGFQPGGAVEKLCQESLGKLTTGDACVSTSCELASALSHLDASHLTENLPKAASELGQQPMTSSDLISSPGKKGAAHPDPSKTSVDTGQVSRPENPSQPASPRVTKCKARSPVRLPHEGSPSPGEKAAAPPDYSKTRSASETSTPHNTRRVAALRGAGPGAEGMTPAGAVLPGDPLTSQEQRQGAPGNHSKALEMTGIHAPESSQEPSLLEGADSVSSRAPQASLSMLPSTDNTKEACGHVSGHCCPGGSRESPVTDIDSFIKELDASAARSPSSQTGDSGSQEGSAQGHPPAGAGGGSSCRAEPVPGGQTSSPRRAWAAGAPAYPQWASQPSVLDSINPDKHFTVNKNFLSNYSRNFSSFHEDSTSLSGLGDSTEPSLSSMYGDAEDSSSDPESLTEAPRASARDGWSPPRSRVSLHKEDPSESEEEQIEICSTRGCPNPPSSPAHLPTQAAICPASAKVLSLKYSTPRESVASPREKAACLPGSYTSGPDSSQPSSLLEMSSQEHETHADISTSQNHRPSCAEETTEVTSASSAMENSPLSKVARHFHSPPIILSSPNMVNGLEHDLLDDETLNQYETSINAAASLSSFSVDVPKNGESVLENLHISESQDLDDLLQKPKMIARRPIMAWFKEINKHNQGTHLRSKTEKEQPLMPARSPDSKIQMVSSSQKKGVTVPHSPPQPKTNLENKDLSKKSPAEMLLTNGQKAKCGPKLKRLSLKGKAKVNSEAPAANAVKAGGTDHRKPLISPQTSHKTLSKAVSQRLHVADHEDPDRNTTAAPRSPQCVLESKPPLATSGPLKPSVSDTSIRTFVSPLTSPKPVPEQGMWSRFHMAVLSEPDRGCPTTPKSPKCRAEGRAPRADSGPVSPAASRNGMSVAGNRQSEPRLASHVAADTAQPRPTGEKGGNIMASDRLERTNQLKIVEISAEAVSETVCGNKPAESDRRGGCLAQGNCQEKSEIRLYRQVAESSTSHPSSLPSHASQAEQEMSRSFSMAKLASSSSSLQTAIRKAEYSQGKSSLMSDSRGVPRNSIPGGPSGEDHLYFTPRPATRTYSMPAQFSSHFGREGHPPHSLGRSRDSQVPVTSSVVPEAKASRGGLPSLANGQGIYSVKPLLDTSRNLPATDEGDIISVQETSCLVTDKIKVTRRHYCYEQNWPHESTSFFSVKQRIKSFENLANADRPVAKSGASPFLSVSSKPPIGRRSSGSIVSGSLGHPGDAAARLLRRSLSSCSENQSEAGTLLPQMAKSPSIMTLTISRQNPPETSSKGSDSELKKSLGPLGIPTPTMTLASPVKRNKSSVRHTQPSPVSRSKLQELRALSMPDLDKLCSEDYSAGPSAVLFKTELEITPRRSPGPPAGGVSCPEKGGNRACPGGSGPKTSAAETPSSASDTGEAAQDLPFRRSWSVNLDQLLVSAGDQQRLQSVLSSVGSKSTILTLIQEAKAQSENEEDVCFIVLNRKEGSGLGFSVAGGTDVEPKSITVHRVFSQGAASQEGTMNRGDFLLSVNGASLAGLAHGNVLKVLHQAQLHKDALVVIKKGMDQPRPSARQEPPTANGKGLLSRKTIPLEPGIGRSVAVHDALCVEVLKTSAGLGLSLDGGKSSVTGDGPLVIKRVYKGGAAEQAGIIEAGDEILAINGKPLVGLMHFDAWNIMKSVPEGPVQLLIRKHRNSS", "length": 2640, "header": "sp|O15018-2|PDZD2_HUMAN Isoform 2 of PDZ domain-containing protein 2 OS=Homo sapiens OX=9606 GN=PDZD2 PE=1 SV=4 CANONICAL=O15018-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1167, "start_aa": "Thr", "end_pos": 1167, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1167", "evidence": [ { "id": "O15018", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15018" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "O15018", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15018" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2041, "start_aa": "Ser", "end_pos": 2041, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2041", "evidence": [ { "id": "O15018", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15018" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "O15018", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15018" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2254, "start_aa": "Thr", "end_pos": 2254, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2254", "evidence": [ { "id": "O15018", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15018" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "O15018", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15018" } ] } ], "phosphorylation": [ { "start_pos": 1850, "end_pos": 1850, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "site_lbl": "Ser1850" }, { "start_pos": 568, "end_pos": 568, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "site_lbl": "Ser568" }, { "start_pos": 944, "end_pos": 944, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "site_lbl": "Ser944" }, { "start_pos": 948, "end_pos": 948, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "site_lbl": "Ser948" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Activated in prostate cancer: a PDZ domain-containing protein highly expressed in human primary prostate tumors.", "journal": "Cancer Res.", "date": "2001", "authors": "Chaib H, Rubin M A, Mucci N R, Li L, Taylor JMG , Day M L, Rhim J S, Macoska J A", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "reference": [ { "type": "PubMed", "id": "11289102", "url": "https://glygen.org/publication/PubMed/11289102" } ] }, { "title": "Proteolytic cleavage of PDZD2 generates a secreted peptide containing two PDZ domains.", "journal": "EMBO reports", "date": "2003", "authors": "Yeung ML, Tam TS, Tsang AC, Yao KM", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" } ], "reference": [ { "type": "PubMed", "id": "12671685", "url": "https://glygen.org/publication/PubMed/12671685" } ] }, { "title": "Secreted PDZD2 exerts concentration-dependent effects on the proliferation of INS-1E cells.", "journal": "The international journal of biochemistry & cell biology", "date": "2006", "authors": "Ma RY, Tam TS, Suen AP, Yeung PM, Tsang SW, Chung SK, Thomas MK, Leung PS, Yao KM", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" } ], "reference": [ { "type": "PubMed", "id": "16413998", "url": "https://glygen.org/publication/PubMed/16413998" } ] }, { "title": "Genome-wide association study of genetic predictors of anti-tumor necrosis factor treatment efficacy in rheumatoid arthritis identifies associations with polymorphisms at seven loci.", "journal": "Arthritis and rheumatism", "date": "2011", "authors": "Plant D, Bowes J, Potter C, Hyrich KL, Morgan AW, Wilson AG, Isaacs JD, Barton A", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" } ], "reference": [ { "type": "PubMed", "id": "21061259", "url": "https://glygen.org/publication/PubMed/21061259" } ] }, { "title": "Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia.", "journal": "Psychiatric genetics", "date": "2012", "authors": "Ritter BP, Angelo GW, Durner M, Rossy-Fullana E, Carrion-Baralt J, Silverman JM, Bespalova IN", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" } ], "reference": [ { "type": "PubMed", "id": "21451436", "url": "https://glygen.org/publication/PubMed/21451436" } ] }, { "title": "Structural genomic variation as risk factor for idiopathic recurrent miscarriage.", "journal": "Human mutation", "date": "2014", "authors": "Nagirnaja L, Palta P, Kasak L, Rull K, Christiansen OB, Nielsen HS, Steffensen R, Esko T, Remm M, Laan M", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" } ], "reference": [ { "type": "PubMed", "id": "24827138", "url": "https://glygen.org/publication/PubMed/24827138" } ] }, { "title": "Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population.", "journal": "Oncotarget", "date": "2017", "authors": "Zhang N, Wu Y, Gong J, Li K, Lin X, Chen H, Yu Y, Gou Y, Hou J, Jiang D, Na R, Wang X, Ding Q, Xu J", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" } ], "reference": [ { "type": "PubMed", "id": "26918600", "url": "https://glygen.org/publication/PubMed/26918600" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15018", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15018" }, { "database": "O-GlcNAc Atlas", "id": "O15018", "url": "https://oglcnac.org/atlas/detail/O15018" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15018", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15018" }, { "database": "O-GlcNAc Atlas", "id": "O15018", "url": "https://oglcnac.org/atlas/detail/O15018" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "miR-363 acts as a tumor suppressor in osteosarcoma cells by inhibiting PDZD2.", "journal": "Oncology reports", "date": "2019", "authors": "He F, Fang L, Yin Q", "evidence": [ { "database": "RefSeq", "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260" } ], "reference": [ { "type": "PubMed", "id": "30896877", "url": "https://glygen.org/publication/PubMed/30896877" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15018", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15018" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "pathway": [ { "id": "hsa:23037", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23037", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "E9Q1M1-1", "protein_name": "PDZ domain containing 2", "gene_name": "Pdzd2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPITQDNALLHLPLLYEWLQNSLREGGDSPEQRLCQAAIQKLQEYIQLNLAVEENTVPPEHSPPEMEICTVYLTKQLGDTETVGLSFGNIPVFGDYGEKRRGGKKRKTHQGPVLDVGCIWVTELRKNSPAGKSGKVRLRDEILSLNGQLMVGVDVSGASYLAEQCWNGGFIYLIMLRRFKQKAHLTYNGNSGNSSEPGETPTLELGDQTSKKGKRTRKFGVISRPAIIKAPEDSKSNSGCDTADDPSSELENGTDSELGNGHAFELENGPNSLKDVAGPHLERSEADREAELRVPKTEAPLSDSNDKRRFSKTGKTNFQSSDSLAREEVGRIWKMELLKESDGLGIQVSGGRGSKRSPHAIVVTQVKEGGAAHRDGRLSLGDELLVINGHLLVGLSHEEAVAILRSATGMVQLVVASKESSAEDLLKLTSKSLPDLTSSVEDISSWTDNEDQEAARDDEEGTGSAAVRGTMLGSEESQDVGSSEESKGNNLESPKQGNSKMKLKSRLSGGVHRLESVEEYNELMVRNGDPRIRMLEVSRDGRKHSLPQLLDSTGTSQEYHIVKKSTRSLSTTHVESPWRLIRPSVISIIGLYKEKGKGLGFSIAGGRDCVRGQMGIFVKTIFPNGSAAEDGRLKEGDEILDVNGIPIKGLTFQEAIHTFKQIRSGLFVLTVRTKLLSPSLTPCSTPTHMSRSSSPSFNSSGGAPAGGGQDEGGSASLGRKAPGPKDRIVMEVTLNKEPRVGLGIGACCLALENSPPGIYIHSLAPGSVAKMESNLSRGDQILEVNSVNVRHAALSKVHAILSKCPPGPVRLVIGRHPNPKVSEQEMDEVIARSTYQESKEANSSPSLGTPLKSPSLAKKDSLLSESELSQYFVHDGQGSLSDFVVAGSEDEDHPGSGYETSEDGSLLTVPSAYRETGKARANSLVTLGSQRGSGLLHKQVTVARQASLPGSPQVLRNPLLRQRRVRCYDSNDGSDDEDFDGEGDCVSLPGVLPGPGRPLVQDDTRFALATSSKSIDVNKQDERLQKPLVSKACSVPLLGSSLDSEHSIHGGTAGTPPKAASLPGSVETPKNGPGGSRRKEMSGSRSSPKLEYRVPADTQSPRSPENGTSPPQKTENLVSRHKPVARISPHYKRSDAEEAPSETANGPCAQDLKVQASSVKDPVAGHQPGGTAEKELRGNPTPGDSSVPTNCGPASTPCHPNTGLPTENPQGAAPECGPHPGTGWDGSSDHPPSPGKSREVRPDSSETPAVTEQVLQPESLSQPVSPGTSEPESQGVSKMKPASQRSLSPREKASALPDSSRTWAGPGDSTPSTRRAAVPMSIGETRATAIPHPSLLGQERSRDPSGPSKALETPGHCVPTSLKDRALLEETASASGKLSHAGPSVPVTTDGTLSGSTESPVTDIDKFIGEAPEAWLSQSPQRADCRTHQDIFESQPPGGAGGGSSHHGKTGGTGSPPPPQWTFQPSVLDSVHPDKQLAGNKNFLNNYSRNFSSFHEDGVSEPSPSSMYGDAEDSSSDPESLVEDPRAAARNNWPAPPSHESSRKEGSSESEDEQIEICAPGGCPETPVPAQAPAQAAGGAVPSVQQTVREPVGDACEKACFMTGASNTCIPGSSQPFSFLDVSSLEHETWAGVQTSRSHMPGCAEETLAVSSTGSVVGDSQPSQTTRPCGNPPFVLRNPDMVNGLGQDLLDEGTPDKGADASHVMSSVYALGAEGPKNGEAVLANLHIAKGGNLDGLLQKPKTTSRRPIMTWFKDINKDSQGAHLQSKSEKEQPSMLAMSPGSKGNTVNPSHRKGMAVPKSPPPRQKSQENKDLSPKSPVETLSNCQKPKGSPKLKRLNSKSKASPEAPVASPAKGGRTDHRKSLPSPQAAHKMLSKAVSHRLHIADQEEPKNTAGDTSKPPQCVPESKPPLAASGSLRTSASDTSIRTITSPLTSPKPLPEQGANNRFHMAVYLESDTSCPATSRPPRYGPEGKVPHANSGSVSPSASRTNIALAGVRQSKQFTHSRVDLVLTEAAQPQGISEKGTEKMASDPLERTNQLKIIEISSERMPKNACGDKPPGSDRKGGFLTQSNCQEKSSVRLRQSAESSPKQPHFPPSQASQGEQEMRWSYSMARLASSSPSAPQLPSKMPDYSQGKSSQMPASVGVPKNGVPVGLAGEEPPYFTPRPATRTYSMPAQFSSHFGREGLSPPSPSHSPQDPQVTAMSGSLSEKSAKGVTNEQGVYSVKPLLETLRNPPPVDVGDVSAVPEASGLIPDKLKVTRRHYYCEQSWPHESTSFFSVKQRIKSFENLANSDRPAAKSATSPFLSVSSKPPVNRRSSGSITSGRPSDGTARSLRRSLSSCSENQSEASSLLPQMTKSPSSVTLTVSRQNPPETNNKGHSPDPKKSLVPVGIPISTGSPASPIKRNKSSVRHAQPSPVSRSKLQELRALSMPDLDKLCSGEDYSASPGAVLFRTQLEITPRRSQGSPATSPASSPARGHADVNGSAFLSCPVNGGNRVYPKGNSSPTVPTGSREWGESLRAMPSGKSWSVNLDQLLASVGYQQRLQAVLSLVGSKSPILPLIQEAKAQSENKEDICFIVLNKKEGSGLGFSVAGGADVEPESVLVHRVFSQGVASQEGTVSQGDFLLSVNGTSLAGLSHSEVTKVLHQAELHKHVLMIIKKGNDQPRPSFRQEPPSANGKAPFPRRTLPLEPGAGRNGAAHDALCVEVLKTSAGLGLSLDGGKSSIAGDGPLVIKRVYQGGAAEQAGTIEAGDEILAINGKPLVGLVHFDAWNIMKSVPEGPVQLVIRKHRDS", "length": 2796 }, "evidence": [ { "id": "45929066", "url": "http://www.informatics.jax.org/homology/45929066", "database": "MGI" }, { "id": "O15018", "url": "https://omabrowser.org/oma/group/O15018/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9QZR8-1", "protein_name": "PDZ domain-containing protein 2", "gene_name": "Pdzd2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O15018", "url": "https://www.uniprot.org/uniprot/O15018" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1058, "end_pos": 1060, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1144, "end_pos": 1146, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1357, "end_pos": 1359, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1522, "end_pos": 1524, "annotation": "n_glycosylation_sequon" 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[], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 1167, 2041, 2254 ], "snv_sites": [ 65, 91, 184, 190, 230, 302, 422, 463, 696, 797, 906, 969, 1101, 1129, 1152, 1167, 1215, 1301, 1318, 1512, 1554, 1634, 1701, 1924, 2041, 2045, 2202, 2326, 2433, 2539, 2547, 2603, 2677, 2820 ], "glycation_sites": [], "phosphorylation_sites": [ 568, 944, 948, 1850 ], "sequon_annotation_sites": [ { "start_pos": 1058, "end_pos": 1060 }, { "start_pos": 1144, "end_pos": 1146 }, { "start_pos": 1357, "end_pos": 1359 }, { "start_pos": 1522, "end_pos": 1524 }, { "start_pos": 1526, "end_pos": 1528 }, { "start_pos": 190, "end_pos": 192 }, { "start_pos": 193, "end_pos": 195 }, { "start_pos": 1946, "end_pos": 1948 }, { "start_pos": 2403, "end_pos": 2405 }, { "start_pos": 2465, "end_pos": 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