{ "uniprot_canonical_ac": "O75077-1", "uniprot_ac": "O75077", "uniprot_id": "ADA23_HUMAN", "mass": { "chemical_mass": 91926.0, "monoisotopic_mass": 91926.0 }, "refseq": { "ac": "NP_003803", "name": "disintegrin and metalloproteinase domain-containing protein 23 isoform 1 preproprotein", "summary": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" }, "gene_names": [ { "name": "ADAM23", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75077", "id": "O75077" }, { "name": "ADAM23", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803", "id": "NP_003803" }, { "name": "MDC-3; MDC3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803", "id": "NP_003803" }, { "name": "MDC3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75077", "id": "O75077" } ], "protein_names": [ { "name": "Disintegrin and metalloproteinase domain-containing protein 23", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75077" }, { "name": "ADAM 23", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75077" }, { "name": "MDC-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75077" }, { "name": "Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75077" }, { "name": "disintegrin and metalloproteinase domain-containing protein 23 isoform 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803", "id": "NP_003803" }, { "name": "disintegrin and metalloproteinase domain-containing protein 23; metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803", "id": "NP_003803" } ], "function": [ { "annotation": "ADAM23 is frequently silenced in gastric cancers by homozygous deletion or aberrant promoter methylation.", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" }, { "database": "PubMed", "id": "16103878", "url": "https://glygen.org/publication/PubMed/16103878" } ] }, { "annotation": "ADAM23 may be down-regulated by aberrant promoter hypermethylation during the progression of colorectal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" }, { "database": "PubMed", "id": "19089928", "url": "https://glygen.org/publication/PubMed/19089928" } ] }, { "annotation": "Endocytosis of the non-catalytic ADAM23: Recycling and long half-life properties.", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" }, { "database": "PubMed", "id": "33296662", "url": "https://glygen.org/publication/PubMed/33296662" } ] }, { "annotation": "May play a role in cell-cell and cell-matrix interactions. This is a non-catalytic metalloprotease-like protein.", "evidence": [ { "database": "UniProtKB", "id": "O75077", "url": "https://www.uniprot.org/uniprot/O75077#function" } ] }, { "annotation": "Results indicate that ADAM23 is likely involved in breast cancer (BC) progression and dissemination of mesenchymal circulating tumor cells. ADAM23 methylation has the potential to function as a novel prognostic marker.", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" }, { "database": "PubMed", "id": "30815959", "url": "https://glygen.org/publication/PubMed/30815959" } ] }, { "annotation": "The relationships between the decreased methylation levels of the SNAI2 and ADAM23 genes and cancer de-differentiation and haematogenous dissemination, respectively, indicate novel functions of those genes in the invasive processes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" }, { "database": "PubMed", "id": "30189837", "url": "https://glygen.org/publication/PubMed/30189837" } ] }, { "annotation": "This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" } ] }, { "annotation": "Together, these results indicate that ADAM23 down-regulation by methylation in brain tumors is a rare event and it may help explain why brain tumor metastases are rarely found elsewhere in the body.", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" }, { "database": "PubMed", "id": "15862898", "url": "https://glygen.org/publication/PubMed/15862898" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs752761369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752761369" }, { "id": "rs752761369", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752761369" }, { "id": "rs752761369", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752761369" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 263, "end_pos": 263, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->HLT).", "chr_id": "2", "chr_pos": "206547495", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N263", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75077", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75077" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 263, "end_pos": 263, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLT->ILT).", "chr_id": "2", "chr_pos": "206547496", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N263", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs758500062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758500062" }, { "id": "rs758500062", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758500062" }, { "id": "rs758500062", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758500062#frequency_tab" }, { "id": "rs758500062", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758500062" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 264, "end_pos": 264, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NPT).", "chr_id": "2", "chr_pos": "206547499", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L264", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1275265808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1275265808" }, { "id": "rs1275265808", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1275265808#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 265, "end_pos": 265, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLA).", "chr_id": "2", "chr_pos": "206547501", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T265", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1317339527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317339527" }, { "id": "rs1317339527", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1317339527#frequency_tab" }, { "id": "rs1317339527", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317339527" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 326, "end_pos": 326, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFA->NFS).", "chr_id": "2", "chr_pos": "206557469", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A326", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1162818375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1162818375" }, { "id": "rs1162818375", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1162818375" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 344, "end_pos": 344, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTR->NTS).", "chr_id": "2", "chr_pos": "206559981", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75077", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75077" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 430, "end_pos": 430, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "206562237", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S430", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": 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"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75077", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75077" } ], "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", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75077", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75077" } ], "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", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75077", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75077" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75077", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75077" } ], "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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somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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": "O75077", "url": "https://www.uniprot.org/uniprot/O75077" } ], "common_name": "Human" } ], "gene": [ { "name": "ADAM23", "url": "https://www.uniprot.org/uniprot/O75077", "locus": { "chromosome": "2", "start_pos": 206621127, "end_pos": 206443532, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000114948", "url": "https://www.ensembl.org/id/ENSG00000114948" } ] } } ], "crossref": [ { "id": "ENSG00000114948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114948", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75077", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75077", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd04269", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04269", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ADAM23", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADAM23", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8745", "url": "https://www.ncbi.nlm.nih.gov/gene/8745", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "202", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=202", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75077", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75077*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001590", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001590", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001762", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001762", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002870", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002870", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006586", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006586", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013111", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013111", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024079", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024079", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR034027", "url": "https://www.ebi.ac.uk/interpro/entry/IPR034027", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036436", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036436", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8745", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8745", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603710", "url": "http://www.omim.org/entry/603710", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75077", "url": "https://www.nextprot.org/entry/NX_O75077", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75077", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75077", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ECDCTES", "url": "https://omabrowser.org/oma/group/ECDCTES/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5406290at2759", "url": "http://www.orthodb.org/?query=5406290at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11905", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11905", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11905:SF13", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11905:SF13", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00200", "url": "http://pfam.xfam.org/family/PF00200", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01421", "url": "http://pfam.xfam.org/family/PF01421", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01562", "url": "http://pfam.xfam.org/family/PF01562", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07974", "url": "http://pfam.xfam.org/family/PF07974", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08516", "url": "http://pfam.xfam.org/family/PF08516", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75077", "url": "https://pharos.nih.gov/targets/O75077", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75077", "url": "http://purl.obolibrary.org/obo/PR_O75077", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75077", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "E7EWD3", "url": "https://www.uniprot.org/uniprot/E7EWD3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EWD3-1", "url": "https://www.uniprot.org/uniprot/E7EWD3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2M6", "url": "https://www.uniprot.org/uniprot/H7C2M6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2M6-1", "url": "https://www.uniprot.org/uniprot/H7C2M6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75077", "url": "https://www.uniprot.org/uniprot/O75077", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75077-1", "url": "https://www.uniprot.org/uniprot/O75077-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75077-2", "url": "https://www.uniprot.org/uniprot/O75077-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75077-3", "url": "https://www.uniprot.org/uniprot/O75077-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKPPGSSSRQPPLAGCSLAGASCGPQRGPAGSVPASAPARTPPCRLLLVLLLLPPLAASSRPRAWGAAAPSAPHWNETAEKNLGVLADEDNTLQQNSSSNISYSNAMQKEITLPSRLIYYINQDSESPYHVLDTKARHQQKHNKAVHLAQASFQIEAFGSKFILDLILNNGLLSSDYVEIHYENGKPQYSKGGEHCYYHGSIRGVKDSKVALSTCNGLHGMFEDDTFVYMIEPLELVHDEKSTGRPHIIQKTLAGQYSKQMKNLTMERGDQWPFLSELQWLKRRKRAVNPSRGIFEEMKYLELMIVNDHKTYKKHRSSHAHTNNFAKSVVNLVDSIYKEQLNTRVVLVAVETWTEKDQIDITTNPVQMLHEFSKYRQRIKQHADAVHLISRVTFHYKRSSLSYFGGVCSRTRGVGVNEYGLPMAVAQVLSQSLAQNLGIQWEPSSRKPKCDCTESWGGCIMEETGVSHSRKFSKCSILEYRDFLQRGGGACLFNRPTKLFEPTECGNGYVEAGEECDCGFHVECYGLCCKKCSLSNGAHCSDGPCCNNTSCLFQPRGYECRDAVNECDITEYCTGDSGQCPPNLHKQDGYACNQNQGRCYNGECKTRDNQCQYIWGTKAAGSDKFCYEKLNTEGTEKGNCGKDGDRWIQCSKHDVFCGFLLCTNLTRAPRIGQLQGEIIPTSFYHQGRVIDCSGAHVVLDDDTDVGYVEDGTPCGPSMMCLDRKCLQIQALNMSSCPLDSKGKVCSGHGVCSNEATCICDFTWAGTDCSIRDPVRNLHPPKDEGPKGPSATNLIIGSIAGAILVAAIVLGGTGWGFKNVKKRRFDPTQQGPI", "length": 832, "header": "sp|O75077-1|ADA23_HUMAN Isoform 1 of Disintegrin and metalloproteinase domain-containing protein 23 OS=Homo sapiens OX=9606 GN=ADAM23 PE=1 SV=1 CANONICAL=O75077-1" }, "isoforms": [ { "isoform_ac": "E7EWD3-1", "url": "", "sequence": { "sequence": "MKPPGSSSRQPPLAGCSLAGASCGPQRGPAGSVPASAPARTPPCRLLLVLLLLPPLAASSRPRAWGAAAPSAPHWNETAEKNLGVLADEDNTLQQNSSSNISYSNAMQKEITLPSRLIYYINQDSESPYHVLDTKARHQQKHNKAVHLAQASFQIEAFGSKFILDLILNNGLLSSDYVEIHYENGKPQYSKGGEHCYYHGSIRGVKDSKVALSTCNGLHGMFEDDTFVYMIEPLELVHDEKSTGRPHIIQKTLAGQYSKQMKNLTMERGDQWPFLSELQWLKRRKRAVNPSRGIFEEMKYLELMIVNDHKTYKKHRSSHAHTNNFAKSVVNLVDSIYKEQLNTRVVLVAVETWTEKDQIDITTNPVQMLHEFSKYRQRIKQHADAVHLISRVTFHYKRSSLSYFGGVCSRTRGVGVNEYGLPMAVAQVLSQSLAQNLGIQWEPSSRKPKCDCTESWGGCIMEETGVSHSRKFSKCSILEYRDFLQRGGGACLFNRPTKLFEPTECGNGYVEAGEECDCGFHVECYGLCCKKCSLSNGAHCSDGPCCNNTSCLFQPRGYECRDAVNECDITEYCTGDSGQCPPNLHKQDGYACNQNQGRCYNGECKTRDNQCQYIWGTKAAGSDKFCYEKLNTEGTEKGNCGKDGDRWIQCSKHDVFCGFLLCTNLTRAPRIGQLQGEIIPTSFYHQGRVIDCSGAHVVLDDDTDVGYVEDGTPCGPSMMCLDRKCLQIQALNMSSCPLDSKGKVCSGHGVCSNEATCICDFTWAGTDCSIRDPVRNLHPPKDEGPKVNMATSRLIGAVAGTILALGVIFGGTGWGIENVKKRRFDPTQQGPI", "length": 832, "header": "tr|E7EWD3-1|E7EWD3_HUMAN Computationally mapped isoform of ADAM metallopeptidase domain 23 OS=Homo sapiens OX=9606 GN=ADAM23 PE=1 SV=2 CANONICAL=O75077-1" }, "locus": { "chromosome": "2", "start_pos": 206617624, "end_pos": 206443867, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000374415.7", "url": "https://www.ensembl.org/id/ENST00000374415.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000363536.3", "url": "https://www.ensembl.org/id/ENSP00000363536.3" } ] } }, { "isoform_ac": "H7C2M6-1", "url": "", "sequence": { "sequence": "XQIQALNMSSCPLDSKGKVCSGHGVCSNEATCICDFTWAGTDCSIRDPVRNLHPPKDEGPKEMSRREGSILLSKAPSESAALDGHRLALLDSGYDILAAVLLELLSL", "length": 107, "header": "tr|H7C2M6-1|ADA23_HUMAN Computationally mapped isoform of Disintegrin and metalloproteinase domain-containing protein 23 OS=Homo sapiens OX=9606 GN=ADAM23 PE=1 SV=1 CANONICAL=O75077-1" }, "locus": { "chromosome": "2", "start_pos": 206617716, "end_pos": 206594835, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444281.1", "url": "https://www.ensembl.org/id/ENST00000444281.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000406827.1", "url": "https://www.ensembl.org/id/ENSP00000406827.1" } ] } }, { "isoform_ac": "O75077-1", "url": "", "sequence": { "sequence": "MKPPGSSSRQPPLAGCSLAGASCGPQRGPAGSVPASAPARTPPCRLLLVLLLLPPLAASSRPRAWGAAAPSAPHWNETAEKNLGVLADEDNTLQQNSSSNISYSNAMQKEITLPSRLIYYINQDSESPYHVLDTKARHQQKHNKAVHLAQASFQIEAFGSKFILDLILNNGLLSSDYVEIHYENGKPQYSKGGEHCYYHGSIRGVKDSKVALSTCNGLHGMFEDDTFVYMIEPLELVHDEKSTGRPHIIQKTLAGQYSKQMKNLTMERGDQWPFLSELQWLKRRKRAVNPSRGIFEEMKYLELMIVNDHKTYKKHRSSHAHTNNFAKSVVNLVDSIYKEQLNTRVVLVAVETWTEKDQIDITTNPVQMLHEFSKYRQRIKQHADAVHLISRVTFHYKRSSLSYFGGVCSRTRGVGVNEYGLPMAVAQVLSQSLAQNLGIQWEPSSRKPKCDCTESWGGCIMEETGVSHSRKFSKCSILEYRDFLQRGGGACLFNRPTKLFEPTECGNGYVEAGEECDCGFHVECYGLCCKKCSLSNGAHCSDGPCCNNTSCLFQPRGYECRDAVNECDITEYCTGDSGQCPPNLHKQDGYACNQNQGRCYNGECKTRDNQCQYIWGTKAAGSDKFCYEKLNTEGTEKGNCGKDGDRWIQCSKHDVFCGFLLCTNLTRAPRIGQLQGEIIPTSFYHQGRVIDCSGAHVVLDDDTDVGYVEDGTPCGPSMMCLDRKCLQIQALNMSSCPLDSKGKVCSGHGVCSNEATCICDFTWAGTDCSIRDPVRNLHPPKDEGPKGPSATNLIIGSIAGAILVAAIVLGGTGWGFKNVKKRRFDPTQQGPI", "length": 832, "header": "sp|O75077-1|ADA23_HUMAN Isoform 1 of Disintegrin and metalloproteinase domain-containing protein 23 OS=Homo sapiens OX=9606 GN=ADAM23 PE=1 SV=1 CANONICAL=O75077-1" }, "locus": { "chromosome": "2", "start_pos": 206617624, "end_pos": 206443867, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000264377.8", "url": "https://www.ensembl.org/id/ENST00000264377.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000264377.3", "url": "https://www.ensembl.org/id/ENSP00000264377.3" } ] } }, { "isoform_ac": "O75077-2", "url": "", "sequence": { "sequence": "MKPPGSSSRQPPLAGCSLAGASCGPQRGPAGSVPASAPARTPPCRLLLVLLLLPPLAASSRPRAWGAAAPSAPHWNETAEKNLGVLADEDNTLQQNSSSNISYSNAMQKEITLPSRLIYYINQDSESPYHVLDTKARHQQKHNKAVHLAQASFQIEAFGSKFILDLILNNGLLSSDYVEIHYENGKPQYSKGGEHCYYHGSIRGVKDSKVALSTCNGLHGMFEDDTFVYMIEPLELVHDEKSTGRPHIIQKTLAGQYSKQMKNLTMERGDQWPFLSELQWLKRRKRAVNPSRGIFEEMKYLELMIVNDHKTYKKHRSSHAHTNNFAKSVVNLVDSIYKEQLNTRVVLVAVETWTEKDQIDITTNPVQMLHEFSKYRQRIKQHADAVHLISRVTFHYKRSSLSYFGGVCSRTRGVGVNEYGLPMAVAQVLSQSLAQNLGIQWEPSSRKPKCDCTESWGGCIMEETGVSHSRKFSKCSILEYRDFLQRGGGACLFNRPTKLFEPTECGNGYVEAGEECDCGFHVECYGLCCKKCSLSNGAHCSDGPCCNNTSCLFQPRGYECRDAVNECDITEYCTGDSGQCPPNLHKQDGYACNQNQGRCYNGECKTRDNQCQYIWGTKAAGSDKFCYEKLNTEGTEKGNCGKDGDRWIQCSKHDVFCGFLLCTNLTRAPRIGQLQGEIIPTSFYHQGRVIDCSGAHVVLDDDTDVGYVEDGTPCGPSMMCLDRKCLQIQALNMSSCPLDSKGKVCSGHGVCSNEATCICDFTWAGTDCSIRDPVRNLHPPKDEGPKVNMATSRLIGAVAGTLLALGVIFGGTGWGIENVKKRRFDPTQQGPI", "length": 832, "header": "sp|O75077-2|ADA23_HUMAN Isoform 2 of Disintegrin and metalloproteinase domain-containing protein 23 OS=Homo sapiens OX=9606 GN=ADAM23 PE=1 SV=1 CANONICAL=O75077-1" }, "locus": {} }, { "isoform_ac": "O75077-3", "url": "", "sequence": { "sequence": "MKPPGSSSRQPPLAGCSLAGASCGPQRGPAGSVPASAPARTPPCRLLLVLLLLPPLAASSRPRAWGAAAPSAPHWNETAEKNLGVLADEDNTLQQNSSSNISYSNAMQKEITLPSRLIYYINQDSESPYHVLDTKARHQQKHNKAVHLAQASFQIEAFGSKFILDLILNNGLLSSDYVEIHYENGKPQYSKGGEHCYYHGSIRGVKDSKVALSTCNGLHGMFEDDTFVYMIEPLELVHDEKSTGRPHIIQKTLAGQYSKQMKNLTMERGDQWPFLSELQWLKRRKRAVNPSRGIFEEMKYLELMIVNDHKTYKKHRSSHAHTNNFAKSVVNLVDSIYKEQLNTRVVLVAVETWTEKDQIDITTNPVQMLHEFSKYRQRIKQHADAVHLISRVTFHYKRSSLSYFGGVCSRTRGVGVNEYGLPMAVAQVLSQSLAQNLGIQWEPSSRKPKCDCTESWGGCIMEETGVSHSRKFSKCSILEYRDFLQRGGGACLFNRPTKLFEPTECGNGYVEAGEECDCGFHVECYGLCCKKCSLSNGAHCSDGPCCNNTSCLFQPRGYECRDAVNECDITEYCTGDSGQCPPNLHKQDGYACNQNQGRCYNGECKTRDNQCQYIWGTKAAGSDKFCYEKLNTEGTEKGNCGKDGDRWIQCSKHDVFCGFLLCTNLTRAPRIGQLQGEIIPTSFYHQGRVIDCSGAHVVLDDDTDVGYVEDGTPCGPSMMCLDRKCLQIQALNMSSCPLDSKGKVCSGHGVCSNEATCICDFTWAGTDCSIRDPVRNLHPPKDEGPKEMSRREGSILLSKAPSESAALDGHRLALLDSGYDILAAVLLELLSL", "length": 832, "header": "sp|O75077-3|ADA23_HUMAN Isoform 3 of Disintegrin and metalloproteinase domain-containing protein 23 OS=Homo sapiens OX=9606 GN=ADAM23 PE=1 SV=1 CANONICAL=O75077-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "O75077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75077#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 263, "start_aa": "Asn", "end_pos": 263, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn263", "evidence": [ { "id": "O75077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75077#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 547, "start_aa": "Asn", "end_pos": 547, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn547", "evidence": [ { "id": "O75077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75077#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "O75077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75077#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 664, "start_aa": "Asn", "end_pos": 664, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn664", "evidence": [ { "id": "O75077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75077#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "IGQLQGEIIPTSFYHQGR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 671, "start_aa": "Ile", "end_pos": 688, "end_aa": "Arg", "evidence": [ { "id": "O75077", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 732, "start_aa": "Asn", "end_pos": 732, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn732", "evidence": [ { "id": "O75077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75077#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 76, "start_aa": "Asn", "end_pos": 76, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn76", "evidence": [ { "id": "O75077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75077#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 96, "start_aa": "Asn", "end_pos": 96, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn96", "evidence": [ { "id": "O75077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75077#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75077", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75077" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 707, "end_pos": 707, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75077", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75077" }, { "database": "PubMed", "id": "16094384", "url": "https://glygen.org/publication/PubMed/16094384" }, { "database": "phospho.ELM", "id": "O75077", "url": "http://phospho.elm.eu.org/byAccession/O75077.html" } ], "site_lbl": "Tyr707" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O75077", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "ADAM 23/MDC3, a human disintegrin that promotes cell adhesion via interaction with the alphavbeta3 integrin through an RGD-independent mechanism.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Cal S, Freije JM, Lopez JM, Takada Y, Lopez-Otin C", "evidence": [ { "database": "UniProtKB", "id": "O75077", "url": "https://www.uniprot.org/uniprot/O75077" } ], "reference": [ { "type": "PubMed", "id": "10749942", "url": "https://glygen.org/publication/PubMed/10749942" } ] }, { "title": "Two novel isoforms of Adam23 expressed in the developmental process of mouse and human brains.", "journal": "Gene", "date": "2004", "authors": "Sun YP, Deng KJ, Wang F, Zhang J, Huang X, Qiao S, Zhao S", "evidence": [ { "database": "UniProtKB", "id": "O75077", "url": "https://www.uniprot.org/uniprot/O75077" } ], "reference": [ { "type": "PubMed", "id": "14697522", "url": "https://glygen.org/publication/PubMed/14697522" } ] }, { "title": "ADAM23 methylation and expression analysis in brain tumors.", "journal": "Neuroscience letters", "date": "2005", "authors": "Costa FF, Colin C, Shinjo SM, Zanata SM, Marie SK, Sogayar MC, Camargo AA", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" } ], "reference": [ { "type": "PubMed", "id": "15862898", "url": "https://glygen.org/publication/PubMed/15862898" } ] }, { "title": "Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry.", "journal": "Nature methods", "date": "2005", "authors": "Tao WA, Wollscheid B, O'Brien R, Eng JK, Li XJ, Bodenmiller B, Watts JD, Hood L, Aebersold R", "evidence": [ { "database": "iPTMnet", "id": "O75077-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75077-1" } ], "reference": [ { "type": "PubMed", "id": "16094384", "url": "https://glygen.org/publication/PubMed/16094384" } ] }, { "title": "ADAM23, a possible tumor suppressor gene, is frequently silenced in gastric cancers by homozygous deletion or aberrant promoter hypermethylation.", "journal": "Oncogene", "date": "2005", "authors": "Takada H, Imoto I, Tsuda H, Nakanishi Y, Ichikura T, Mochizuki H, Mitsufuji S, Hosoda F, Hirohashi S, Ohki M, Inazawa J", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" } ], "reference": [ { "type": "PubMed", "id": "16103878", "url": "https://glygen.org/publication/PubMed/16103878" } ] }, { "title": "Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Fukata Y, Adesnik H, Iwanaga T, Bredt DS, Nicoll RA, Fukata M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "16990550", "url": "https://glygen.org/publication/PubMed/16990550" } ] }, { "title": "Abeta upregulates and colocalizes with LGI3 in cultured rat astrocytes.", "journal": "Cellular and molecular neurobiology", "date": "2007", "authors": "Kimura N, Ishii Y, Suzaki S, Negishi T, Kyuwa S, Yoshikawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "17387609", "url": "https://glygen.org/publication/PubMed/17387609" } ] }, { "title": "Leucine-rich glioma inactivated 3 is involved in amyloid beta peptide uptake by astrocytes and endocytosis itself.", "journal": "Neuroreport", "date": "2008", "authors": "Okabayashi S, Kimura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "18628660", "url": "https://glygen.org/publication/PubMed/18628660" } ] }, { "title": "LGI1 and LGI4 bind to ADAM22, ADAM23 and ADAM11.", "journal": "International journal of biological sciences", "date": "2008", "authors": "Sagane K, Ishihama Y, Sugimoto H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "18974846", "url": "https://glygen.org/publication/PubMed/18974846" } ] }, { "title": "Promoter hypermethylation of the ADAM23 gene in colorectal cancer cell lines and cancer tissues.", "journal": "International journal of cancer", "date": "2009", "authors": "Choi JS, Kim KH, Jeon YK, Kim SH, Jang SG, Ku JL, Park JG", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" } ], "reference": [ { "type": "PubMed", "id": "19089928", "url": "https://glygen.org/publication/PubMed/19089928" } ] }, { "title": "Leucine-rich glioma inactivated 3 induces neurite outgrowth through Akt and focal adhesion kinase.", "journal": "Neurochemical research", "date": "2010", "authors": "Park WJ, Lim YY, Kwon NS, Baek KJ, Kim DS, Yun HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "20162351", "url": "https://glygen.org/publication/PubMed/20162351" } ] }, { "title": "Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2010", "authors": "Ozkaynak E, Abello G, Jaegle M, van Berge L, Hamer D, Kegel L, Driegen S, Sagane K, Bermingham JR Jr, Meijer D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "20220021", "url": "https://glygen.org/publication/PubMed/20220021" } ] }, { "title": "LGI3 interacts with flotillin-1 to mediate APP trafficking and exosome formation.", "journal": "Neuroreport", "date": "2010", "authors": "Okabayashi S, Kimura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "20461023", "url": "https://glygen.org/publication/PubMed/20461023" } ] }, { "title": "LGI2 truncation causes a remitting focal epilepsy in dogs.", "journal": "PLoS genetics", "date": "2011", "authors": "Seppala EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5682910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910" } ], "reference": [ { "type": "PubMed", "id": "21829378", "url": "https://glygen.org/publication/PubMed/21829378" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O75077", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Decreased methylation in the SNAI2 and ADAM23 genes associated with de-differentiation and haematogenous dissemination in breast cancers.", "journal": "BMC cancer", "date": "2018", "authors": "Kalinkova L, Zmetakova I, Smolkova B, Minarik G, Sedlackova T, Horvathova Kajabova V, Cierna Z, Mego M, Fridrichova I", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" } ], "reference": [ { "type": "PubMed", "id": "30189837", "url": "https://glygen.org/publication/PubMed/30189837" } ] }, { "title": "A disintegrin and metalloprotease 23 hypermethylation predicts decreased disease-free survival in low-risk breast cancer patients.", "journal": "Cancer science", "date": "2019", "authors": "Zmetakova I, Kalinkova L, Smolkova B, Horvathova Kajabova V, Cierna Z, Danihel L, Bohac M, Sedlackova T, Minarik G, Karaba M, Benca J, Cihova M, Buocikova V, Miklikova S, Mego M, Fridrichova I", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" } ], "reference": [ { "type": "PubMed", "id": "30815959", "url": "https://glygen.org/publication/PubMed/30815959" } ] }, { "title": "Endocytosis of the non-catalytic ADAM23: Recycling and long half-life properties.", "journal": "Experimental cell research", "date": "2021", "authors": "Souza ILM, Oliveira NH, Huamani PAM, Martin AS, Borgonovo ZLM, Nakao LS, Zanata SM", "evidence": [ { "database": "RefSeq", "id": "NP_003803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003803" } ], "reference": [ { "type": "PubMed", "id": "33296662", "url": "https://glygen.org/publication/PubMed/33296662" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75077", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75077" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Metalloproteinase-like, disintegrin-like, cysteine-rich proteins MDC2 and MDC3: novel human cellular disintegrins highly expressed in the brain.", "journal": "Biochem. J.", "date": "1998", "authors": "Sagane K, Ohya Y, Hasegawa Y, Tanaka I", "evidence": [ { "database": "UniProtKB", "id": "O75077", "url": "https://www.uniprot.org/uniprot/O75077" } ], "reference": [ { "type": "PubMed", "id": "9693107", "url": "https://glygen.org/publication/PubMed/9693107" } ] } ], "pathway": [ { "id": "hsa:8745", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8745", "resource": "KEGG Pathway" }, { "id": "R-HSA-5682910", "name": "LGI-ADAM interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5682910", "resource": "Reactome", "description": "LGI-ADAM interactions" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6A4T9-1", "protein_name": "ADAM metallopeptidase domain 23", "gene_name": "Adam23", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKPPGSSSRRPPLTGCSLPGASRGPGRCPAGPVPARAPPCRLLLVLLLLPALAASSRPRARGAAALSALHWNETAENSPGVVADEDSTLQQNGSRNTSYSSAVQKEITLPSRLVYYINQDSESPYHVLDTKARHQQKHNKAVHLAQASFQIEAFGSKFILDLILNNGLLSSDYVEIHYEDGKQMYSKGGEHCYYHGSIRGVKDSRVALSTCNGLHGMFEDDTFVYMIEPLELTHDEKSTGRPHIIQKTLAGQYSKQMKNLSTDGSDQWPLLPELQWLRRRKRAVNPSRGVFEEMKYLELMIVNDHKTYKKHRSSHAHTNNFAKSVVNLVDSIYKEQLNTRVVLVAVETWTEKDQIDITINPVQMLHEFSKYRQRIKQHADAVHLISRVTFHYKRSSLSYFGGVCSRVKGVGVNEYGLPMAVAQVLSQSLAQNLGIQWEPSSRKPKCECIESWGGCIMEETGVSHSRKFSKCSILEYRDFLQRGGGACLFNRPTKLFEPTECGNGYVEAGEECDCGFHVECYGVCCKKCSLSNGAHCSDGPCCNNTSCLFQSRGYECRDAVNSCDITEYCTGDSGQCPPNLHKQDGYACNQNQGRCYNGECKTRDNQCQYIWGTKASGSDKFCYEKLNTEGTEKGNCGKDGDRWIQCSKHDVFCGFLLCTNLTRAPRIGQLQGEIIPTSFYHQGRVIDCSGAHVVLDDDTDVGYVEDTPLCPSMMCLDRKCLQIQALNMSSCPLDSKGKVCSGHGVCSNEATCICDFTWAGTDCSIRDPVRNPNPPKDEGPKETSRRGDSIPLSKAPSESAALEECHLALWGSGNDMLSTMLLELLSL", "length": 827 }, "evidence": [ { "id": "O75077", "url": "https://omabrowser.org/oma/group/O75077/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9R1V7-1", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 23", "gene_name": "Adam23", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKPPGSISRRPTLTGCSLPGASCGPGRCPAGPVPARAPPCRLLLVLLLLPALATSSRPRARGAAAPSAPHWNETAEKTLGVLADEDNTLQQNSSSRNTSYSSAVQKEITLPSRLVYYINQDSESPYHVLDTKARHQQKHNKAVHLAQASFQIEAFGSKFILDLTLNNGLLSSDYVEIHYEDGKQMYSKGGEHCYYHGSIRGVKDSRVALSTCNGLHGMFEDDTFVYMIEPLELTDDEKSTGRPHIIQKTLAGQYSKQMKNLSTDGSDQWPLLPELQWLRRRKRAVNPSRGVFEEMKYLELMIVNDHKTYKKHRSSHAHTNNFAKSVVNLVDSIYKEQLNTRVVLVAVETWTEKDHIDITINPVQMLHDFSKYRQRIKQHADAVHLISRVTFHYKRSSLSYFGGVCSRIRGVGVNEYGLPMAVAQVLSQSLAQNLGIQWEPSSRKPKCECIESWGGCIMEETGVSHSRKFSKCSILEYRDFLQRGGGACLFNRPTKLFEPTECGNGYVEAGEECDCGFHVECYGVCCKKCSLSNGAHCSDGPCCNNTSCLFQSRGYECRDAVNSCDITEYCTGDSGQCPPNLHKQDGYSCNQNQGRCYNGECKTRDNQCQYIWGTKAAGSDKFCYEKLNTEGTEKGNCGKDGDRWIPCSKHDVFCGFLLCTNLTRAPRIGQLQGEIIPTSFYHQGRVIDCSGAHVVLDDDTDVGYVEDGTPCGPSMMCLDRKCLQIQALNMSSCPLDSRGKVCSGHGVCSNEATCICDFTWAGTDCSIRDPVRNPNPPKDEGPKGPSATNLIIGSIAGAILVAAIVLGGTGWGFKNVKKRRFDPTQQGPI", "length": 829 }, "evidence": [ { "id": "45927019", "url": "http://www.informatics.jax.org/homology/45927019", "database": "MGI" }, { "id": "O75077", "url": "https://omabrowser.org/oma/group/O75077/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "O75077", "url": "https://www.uniprot.org/uniprot/O75077" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "O75077", "url": "https://www.uniprot.org/uniprot/O75077" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "O75077", "url": "https://www.uniprot.org/uniprot/O75077" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "proteolysis", "id": 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