{ "uniprot_canonical_ac": "O43868-1", "uniprot_ac": "O43868", "uniprot_id": "S28A2_HUMAN", "mass": { "chemical_mass": 71926.0, "monoisotopic_mass": 71926.0 }, "refseq": { "ac": "NP_004203", "name": "sodium/nucleoside cotransporter 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203" }, "gene_names": [ { "name": "SLC28A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43868", "id": "O43868" }, { "name": "CNT2; HCNT2; HsT17153; SPNT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203", "id": "NP_004203" }, { "name": "CNT2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43868", "id": "O43868" }, { "name": "SLC28A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203", "id": "NP_004203" } ], "protein_names": [ { "name": "Sodium/nucleoside cotransporter 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43868" }, { "name": "CNT 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43868" }, { "name": "Concentrative nucleoside transporter 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43868" }, { "name": "Na(+)/nucleoside cotransporter 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43868" }, { "name": "SPNT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43868" }, { "name": "Sodium-coupled nucleoside transporter 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43868" }, { "name": "Sodium/purine nucleoside co-transporter", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43868" }, { "name": "Solute carrier family 28 member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43868" }, { "name": "hCNT2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43868" }, { "name": "sodium/nucleoside cotransporter 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203", "id": "NP_004203" }, { "name": "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2; SPNT; CNT 2; concentrative nucleoside transporter 2; sodium-coupled nucleoside transporter 2; sodium/purine nucleoside co-transporter; solute carrier family 28 (concentrative nucleoside transporter), member 2; Na(+)/nucleoside cotransporter 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203", "id": "NP_004203" } ], "function": [ { "annotation": "Characterization of deoxyribonucleoside transport mediated by concentrative nucleoside transporters.", "evidence": [ { "database": "RefSeq", "id": "NP_004203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203" }, { "database": "PubMed", "id": "33910126", "url": "https://glygen.org/publication/PubMed/33910126" } ] }, { "annotation": "Results that validate the newly developed structural homology model of CNT membrane architecture for human CNTs, revealed extended conformationally mobile regions within transport-domain TMs, identified pore-lining residues of functional importance, and provided evidence of an emerging novel elevator-type mechanism of transporter function.", "evidence": [ { "database": "RefSeq", "id": "NP_004203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203" }, { "database": "PubMed", "id": "28385889", "url": "https://glygen.org/publication/PubMed/28385889" } ] }, { "annotation": "Significant association of intron variants in the SLC28A2 gene with both serum uric acid level and hyperuricemia phenotype, and another exonic variant with gout in Han Chinese Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203" }, { "database": "PubMed", "id": "30679935", "url": "https://glygen.org/publication/PubMed/30679935" } ] }, { "annotation": "Sodium-dependent and purine-selective transporter (PubMed:9435697, PubMed:10087507). Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for purine nucleosides and uridine) (PubMed:9435697, PubMed:10087507, PubMed:21795683). Plays a critical role in specific uptake and salvage of purine nucleosides in kidney and other tissues (PubMed:9435697). May contribute to regulate the transport of organic compounds in testes across the blood-testis-barrier (Probable).", "evidence": [ { "database": "UniProtKB", "id": "O43868", "url": "https://www.uniprot.org/uniprot/O43868#function" }, { "database": "PubMed", "id": "10087507", "url": "https://glygen.org/publication/PubMed/10087507" }, { "database": "PubMed", "id": "35307651", "url": "https://glygen.org/publication/PubMed/35307651" }, { "database": "PubMed", "id": "21795683", "url": "https://glygen.org/publication/PubMed/21795683" }, { "database": "PubMed", "id": "9435697", "url": "https://glygen.org/publication/PubMed/9435697" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs751622097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751622097" }, { "id": "rs751622097", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751622097" }, { "id": "rs751622097", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751622097" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 311, "end_pos": 311, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIF->NIS).", "chr_id": "15", "chr_pos": "45266151", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F311", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43868", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43868" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 37, "end_pos": 37, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KRT->NRT).", "chr_id": "15", "chr_pos": "45253461", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K37", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs545612478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs545612478" }, { "id": "rs545612478", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs545612478" }, { "id": "rs545612478", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs545612478" }, { "id": "rs545612478", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs545612478#frequency_tab" }, { "id": "rs545612478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs545612478" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 428, "end_pos": 428, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLI->NLS).", "chr_id": "15", "chr_pos": "45268293", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "I428", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs545612478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs545612478" }, { "id": "rs545612478", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs545612478" }, { "id": "rs545612478", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs545612478" }, { "id": "rs545612478", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs545612478#frequency_tab" }, { "id": "rs545612478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs545612478" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 428, "end_pos": 428, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "15", "chr_pos": "45268293", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "I428", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43868", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43868" } ], "glycoeffect": [], "start_pos": 513, "end_pos": 513, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "45269508", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "W513", "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: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 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"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 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"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, 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"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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43868", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43868" } ], "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", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43868", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43868" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43868", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43868" } ], "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": 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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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"length": 71, "header": "tr|H0YNK4-1|H0YNK4_HUMAN Computationally mapped isoform of Solute carrier family 28 member 2 OS=Homo sapiens OX=9606 GN=SLC28A2 PE=4 SV=1 CANONICAL=O43868-1" }, "locus": { "chromosome": "15", "start_pos": 45264683, "end_pos": 45263061, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559924.1", "url": "https://www.ensembl.org/id/ENST00000559924.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000454046.1", "url": "https://www.ensembl.org/id/ENSP00000454046.1" } ] } }, { "isoform_ac": "H0YNM6-1", "url": "", "sequence": { "sequence": "SPSLRSQRESIPQAGEKEVEPEGSKRTDAQGHSLGDGLGPSTYQRRSRWPFSKARSFCKTHASLFKKILLGLLCLAYAAYLLAACILNFQRALALFVITCLVIFVLVHSFLKKLLGKKLTRCLKPFENSRLRLWTKWVFAGVSLVGLILWLALDTAQRPEQLIPFAGICMFILILFACSKHHSAVSWRTVFSG", "length": 193, "header": "tr|H0YNM6-1|H0YNM6_HUMAN Computationally mapped isoform of Solute carrier family 28 member 2 OS=Homo sapiens OX=9606 GN=SLC28A2 PE=1 SV=8 CANONICAL=O43868-1" }, "locus": { "chromosome": "15", "start_pos": 45264681, "end_pos": 45252234, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560438.5", "url": "https://www.ensembl.org/id/ENST00000560438.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454074.1", "url": "https://www.ensembl.org/id/ENSP00000454074.1" } ] } }, { "isoform_ac": "O43868-1", "url": "", "sequence": { "sequence": "MEKASGRQSIALSTVETGTVNPGLELMEKEVEPEGSKRTDAQGHSLGDGLGPSTYQRRSRWPFSKARSFCKTHASLFKKILLGLLCLAYAAYLLAACILNFQRALALFVITCLVIFVLVHSFLKKLLGKKLTRCLKPFENSRLRLWTKWVFAGVSLVGLILWLALDTAQRPEQLIPFAGICMFILILFACSKHHSAVSWRTVFSGLGLQFVFGILVIRTDLGYTVFQWLGEQVQIFLNYTVAGSSFVFGDTLVKDVFAFQALPIIIFFGCVVSILYYLGLVQWVVQKVAWFLQITMGTTATETLAVAGNIFVGMTEAPLLIRPYLGDMTLSEIHAVMTGGFATISGTVLGAFIAFGVDASSLISASVMAAPCALASSKLAYPEVEESKFKSEEGVKLPRGKERNVLEAASNGAVDAIGLATNVAANLIAFLAVLAFINAALSWLGELVDIQGLTFQVICSYLLRPMVFMMGVEWTDCPMVAEMVGIKFFINEFVAYQQLSQYKNKRLSGMEEWIEGEKQWISVRAEIITTFSLCGFANLSSIGITLGGLTSIVPHRKSDLSKVVVRALFTGACVSLISACMAGILYVPRGAEADCVSFPNTSFTNRTYETYMCCRGLFQSTSLNGTNPPSFSGPWEDKEFSAMALTNCCGFYNNTVCA", "length": 658, "header": "sp|O43868-1|S28A2_HUMAN Isoform 1 of Sodium/nucleoside cotransporter 2 OS=Homo sapiens OX=9606 GN=SLC28A2 PE=2 SV=2 CANONICAL=O43868-1" }, "locus": { "chromosome": "15", "start_pos": 45275510, "end_pos": 45253216, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000347644.8", "url": "https://www.ensembl.org/id/ENST00000347644.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000315006.4", "url": "https://www.ensembl.org/id/ENSP00000315006.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 53, "start_aa": "Ser", "end_pos": 53, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser53", "evidence": [ { "id": "O43868", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43868" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 54, "start_aa": "Thr", "end_pos": 54, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr54", "evidence": [ { "id": "O43868", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43868" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [ { "start_pos": 45, "end_pos": 45, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43868", "url": "https://www.uniprot.org/uniprot/O43868" } ], "site_lbl": "Ser45" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular cloning, functional expression and chromosomal localization of a cDNA encoding a human Na+/nucleoside cotransporter (hCNT2) selective for purine nucleosides and uridine.", "journal": "Molecular membrane biology", "date": "1998", "authors": "Ritzel MW, Yao SY, Ng AM, Mackey JR, Cass CE, Young JD", "evidence": [ { "database": "UniProtKB", "id": "O43868", "url": "https://www.uniprot.org/uniprot/O43868" } ], "reference": [ { "type": "PubMed", "id": "10087507", "url": "https://glygen.org/publication/PubMed/10087507" } ] }, { "title": "Identification of amino acid residues responsible for the pyrimidine and purine nucleoside specificities of human concentrative Na(+) nucleoside cotransporters hCNT1 and hCNT2.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Loewen SK, Ng AM, Yao SY, Cass CE, Baldwin SA, Young JD", "evidence": [ { "database": "UniProtKB", "id": "O43868", "url": "https://www.uniprot.org/uniprot/O43868" }, { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "10455109", "url": "https://glygen.org/publication/PubMed/10455109" } ] }, { "title": "Multidrug-resistance protein 5 is a multispecific organic anion transporter able to transport nucleotide analogs.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Wijnholds J, Mol CA, van Deemter L, de Haas M, Scheffer GL, Baas F, Beijnen JH, Scheper RJ, Hatse S, De Clercq E, Balzarini J, Borst P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "10840050", "url": "https://glygen.org/publication/PubMed/10840050" } ] }, { "title": "Molecular identification and characterization of novel human and mouse concentrative Na+-nucleoside cotransporter proteins (hCNT3 and mCNT3) broadly selective for purine and pyrimidine nucleosides (system cib).", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ritzel MW, Ng AM, Yao SY, Graham K, Loewen SK, Smith KM, Ritzel RG, Mowles DA, Carpenter P, Chen XZ, Karpinski E, Hyde RJ, Baldwin SA, Cass CE, Young JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "11032837", "url": "https://glygen.org/publication/PubMed/11032837" } ] }, { "title": "ARL2 and BART enter mitochondria and bind the adenine nucleotide transporter.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Sharer JD, Shern JF, Van Valkenburgh H, Wallace DC, Kahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "11809823", "url": "https://glygen.org/publication/PubMed/11809823" } ] }, { "title": "Thiopurine metabolism and identification of the thiopurine metabolites transported by MRP4 and MRP5 overexpressed in human embryonic kidney cells.", "journal": "Molecular pharmacology", "date": "2002", "authors": "Wielinga PR, Reid G, Challa EE, van der Heijden I, van Deemter L, de Haas M, Mol C, Kuil AJ, Groeneveld E, Schuetz JD, Brouwer C, De Abreu RA, Wijnholds J, Beijnen JH, Borst P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "12435799", "url": "https://glygen.org/publication/PubMed/12435799" } ] }, { "title": "Activation and deactivation of a broad-spectrum antiviral drug by a single enzyme: adenosine deaminase catalyzes two consecutive deamination reactions.", "journal": "Antimicrobial agents and chemotherapy", "date": "2003", "authors": "Wu JZ, Walker H, Lau JY, Hong Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "12499231", "url": "https://glygen.org/publication/PubMed/12499231" } ] }, { "title": "Structural analysis of the activation of ribavirin analogs by NDP kinase: comparison with other ribavirin targets.", "journal": "Molecular pharmacology", "date": "2003", "authors": "Gallois-Montbrun S, Chen Y, Dutartre H, Sophys M, Morera S, Guerreiro C, Schneider B, Mulard L, Janin J, Veron M, Deville-Bonne D, Canard B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "12606760", "url": "https://glygen.org/publication/PubMed/12606760" } ] }, { "title": "CD28-dependent Rac1 activation is the molecular target of azathioprine in primary human CD4+ T lymphocytes.", "journal": "The Journal of clinical investigation", "date": "2003", "authors": "Tiede I, Fritz G, Strand S, Poppe D, Dvorsky R, Strand D, Lehr HA, Wirtz S, Becker C, Atreya R, Mudter J, Hildner K, Bartsch B, Holtmann M, Blumberg R, Walczak H, Iven H, Galle PR, Ahmadian MR, Neurath MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "12697733", "url": "https://glygen.org/publication/PubMed/12697733" } ] }, { "title": "Identification and characterization of a novel monoamine transporter in the human brain.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Engel K, Zhou M, Wang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "15448143", "url": "https://glygen.org/publication/PubMed/15448143" } ] }, { "title": "Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Baldwin SA, Yao SY, Hyde RJ, Ng AM, Foppolo S, Barnes K, Ritzel MW, Cass CE, Young JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "15701636", "url": "https://glygen.org/publication/PubMed/15701636" } ] }, { "title": "Cellular export of drugs and signaling molecules by the ATP-binding cassette transporters MRP4 (ABCC4) and MRP5 (ABCC5).", "journal": "Drug metabolism reviews", "date": "2005", "authors": "Ritter CA, Jedlitschky G, Meyer zu Schwabedissen H, Grube M, Kock K, Kroemer HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "15747503", "url": "https://glygen.org/publication/PubMed/15747503" } ] }, { "title": "Recognition and activation of Rho GTPases by Vav1 and Vav2 guanine nucleotide exchange factors.", "journal": "Biochemistry", "date": "2005", "authors": "Heo J, Thapar R, Campbell SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "15850391", "url": "https://glygen.org/publication/PubMed/15850391" } ] }, { "title": "Genetic analysis and functional characterization of polymorphisms in the human concentrative nucleoside transporter, CNT2.", "journal": "Pharmacogenet. Genomics", "date": "2005", "authors": "Owen RP, Gray JH, Taylor TR, Carlson EJ, Huang CC, Kawamoto M, Johns SJ, Stryke D, Ferrin TE, Giacomini KM", "evidence": [ { "database": "UniProtKB", "id": "O43868", "url": "https://www.uniprot.org/uniprot/O43868" }, { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "15861032", "url": "https://glygen.org/publication/PubMed/15861032" } ] }, { "title": "Phosphorylation of ribavirin and viramidine by adenosine kinase and cytosolic 5'-nucleotidase II: Implications for ribavirin metabolism in erythrocytes.", "journal": "Antimicrobial agents and chemotherapy", "date": "2005", "authors": "Wu JZ, Larson G, Walker H, Shim JH, Hong Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "15917509", "url": "https://glygen.org/publication/PubMed/15917509" } ] }, { "title": "Recent advances in studies on biochemical and structural properties of equilibrative and concentrative nucleoside transporters.", "journal": "Acta biochimica Polonica", "date": "2005", "authors": "Podgorska M, Kocbuch K, Pawelczyk T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "16265592", "url": "https://glygen.org/publication/PubMed/16265592" } ] }, { "title": "Electrophysiological characterization and modeling of the structure activity relationship of the human concentrative nucleoside transporter 3 (hCNT3).", "journal": "Molecular pharmacology", "date": "2006", "authors": "Hu H, Endres CJ, Chang C, Umapathy NS, Lee EW, Fei YJ, Itagaki S, Swaan PW, Ganapathy V, Unadkat JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "16446384", "url": "https://glygen.org/publication/PubMed/16446384" } ] }, { "title": "Involvement of the concentrative nucleoside transporter 3 and equilibrative nucleoside transporter 2 in the resistance of T-lymphoblastic cell lines to thiopurines.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Fotoohi AK, Lindqvist M, Peterson C, Albertioni F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "16530731", "url": "https://glygen.org/publication/PubMed/16530731" } ] }, { "title": "Divergent activities of human glutathione transferases in the bioactivation of azathioprine.", "journal": "Molecular pharmacology", "date": "2006", "authors": "Eklund BI, Moberg M, Bergquist J, Mannervik B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "16717136", "url": "https://glygen.org/publication/PubMed/16717136" } ] }, { "title": "Distribution and functional characterization of equilibrative nucleoside transporter-4, a novel cardiac adenosine transporter activated at acidic pH.", "journal": "Circulation research", "date": "2006", "authors": "Barnes K, Dobrzynski H, Foppolo S, Beal PR, Ismat F, Scullion ER, Sun L, Tellez J, Ritzel MW, Claycomb WC, Cass CE, Young JD, Billeter-Clark R, Boyett MR, Baldwin SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "16873718", "url": "https://glygen.org/publication/PubMed/16873718" } ] }, { "title": "Human xanthine oxidase changes its substrate specificity to aldehyde oxidase type upon mutation of amino acid residues in the active site: roles of active site residues in binding and activation of purine substrate.", "journal": "Journal of biochemistry", "date": "2007", "authors": "Yamaguchi Y, Matsumura T, Ichida K, Okamoto K, Nishino T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "17301077", "url": "https://glygen.org/publication/PubMed/17301077" } ] }, { "title": "Role of CNT3 in the transepithelial flux of nucleosides and nucleoside-derived drugs.", "journal": "The Journal of physiology", "date": "2007", "authors": "Errasti-Murugarren E, Pastor-Anglada M, Casado FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "17412768", "url": "https://glygen.org/publication/PubMed/17412768" } ] }, { "title": "Identification and functional analysis of variants in the human concentrative nucleoside transporter 2, hCNT2 (SLC28A2) in Chinese, Malays and Indians.", "journal": "Pharmacogenet. Genomics", "date": "2007", "authors": "Li Linghui, Tan Cherine Meng Fong, Koo Seok Hwee, Chong Kok Ting, Lee Edmund Jon Deoon", "evidence": [ { "database": "UniProtKB", "id": "O43868", "url": "https://www.uniprot.org/uniprot/O43868" } ], "reference": [ { "type": "PubMed", "id": "17700367", "url": "https://glygen.org/publication/PubMed/17700367" } ] }, { "title": "Up-regulation of MRP4 and down-regulation of influx transporters in human leukemic cells with acquired resistance to 6-mercaptopurine.", "journal": "Leukemia research", "date": "2008", "authors": "Peng XX, Shi Z, Damaraju VL, Huang XC, Kruh GD, Wu HC, Zhou Y, Tiwari A, Fu L, Cass CE, Chen ZS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "17996297", "url": "https://glygen.org/publication/PubMed/17996297" } ] }, { "title": "Expression and hepatobiliary transport characteristics of the concentrative and equilibrative nucleoside transporters in sandwich-cultured human hepatocytes.", "journal": "American journal of physiology. Gastrointestinal and liver physiology", "date": "2008", "authors": "Govindarajan R, Endres CJ, Whittington D, LeCluyse E, Pastor-Anglada M, Tse CM, Unadkat JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "18635603", "url": "https://glygen.org/publication/PubMed/18635603" } ] }, { "title": "The H syndrome is caused by mutations in the nucleoside transporter hENT3.", "journal": "American journal of human genetics", "date": "2008", "authors": "Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "18940313", "url": "https://glygen.org/publication/PubMed/18940313" } ] }, { "title": "The structure of binder of Arl2 (BART) reveals a novel G protein binding domain: implications for function.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Bailey LK, Campbell LJ, Evetts KA, Littlefield K, Rajendra E, Nietlispach D, Owen D, Mott HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "18981177", "url": "https://glygen.org/publication/PubMed/18981177" } ] }, { "title": "Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3.", "journal": "American journal of physiology. Gastrointestinal and liver physiology", "date": "2009", "authors": "Govindarajan R, Leung GP, Zhou M, Tse CM, Wang J, Unadkat JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "19164483", "url": "https://glygen.org/publication/PubMed/19164483" } ] }, { "title": "Crystal structure of the ARL2-GTP-BART complex reveals a novel recognition and binding mode of small GTPase with effector.", "journal": "Structure (London, England : 1993)", "date": "2009", "authors": "Zhang T, Li S, Zhang Y, Zhong C, Lai Z, Ding J", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "19368893", "url": "https://glygen.org/publication/PubMed/19368893" } ] }, { "title": "Reassessment of the interactions of guanylate kinase and 6-thioguanosine 5'-phosphate.", "journal": "Biochemical pharmacology", "date": "1977", "authors": "Miller RL, Adamczyk DL, Spector T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "197968", "url": "https://glygen.org/publication/PubMed/197968" } ] }, { "title": "Kinetic study of anti-viral ribavirin uptake mediated by hCNT3 and hENT1 in Xenopus laevis oocytes.", "journal": "Biophysical chemistry", "date": "2010", "authors": "Yamamoto T, Sugawara M, Kikukawa T, Miyauchi S, Yamaguchi M, Tero A, Takagi S, Nakagaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "20096989", "url": "https://glygen.org/publication/PubMed/20096989" } ] }, { "title": "ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C.", "journal": "Nature", "date": "2010", "authors": "Fellay J, Thompson AJ, Ge D, Gumbs CE, Urban TJ, Shianna KV, Little LD, Qiu P, Bertelsen AH, Watson M, Warner A, Muir AJ, Brass C, Albrecht J, Sulkowski M, McHutchison JG, Goldstein DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "20173735", "url": "https://glygen.org/publication/PubMed/20173735" } ] }, { "title": "Determination of 6-thioguanosine diphosphate and triphosphate and nucleoside diphosphate kinase activity in erythrocytes: novel targets for thiopurine therapy?", "journal": "Therapeutic drug monitoring", "date": "2010", "authors": "Karner S, Shi S, Fischer C, Schaeffeler E, Neurath MF, Herrlinger KR, Hofmann U, Schwab M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "20216118", "url": "https://glygen.org/publication/PubMed/20216118" } ] }, { "title": "Mitochondrial toxicity is associated with virological response in patients with HIV and hepatitis C virus coinfection treated with ribavirin and highly active antiretroviral therapy.", "journal": "The Journal of infectious diseases", "date": "2010", "authors": "Reiberger T, Kosi L, Maresch J, Breitenecker F, Payer BA, Wrba F, Rieger A, Gangl A, Peck-Radosavljevic M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "20486858", "url": "https://glygen.org/publication/PubMed/20486858" } ] }, { "title": "Drug transporter pharmacogenetics in nucleoside-based therapies.", "journal": "Pharmacogenomics", "date": "2010", "authors": "Errasti-Murugarren E, Pastor-Anglada M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "20504255", "url": "https://glygen.org/publication/PubMed/20504255" } ] }, { "title": "Guanylate kinases from human erythrocytes, hog brain, and rat liver.", "journal": "Methods in enzymology", "date": "1978", "authors": "Agarwal KC, Miech RP, Parks RE Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "211390", "url": "https://glygen.org/publication/PubMed/211390" } ] }, { "title": "Structural basis for the allosteric regulation and substrate recognition of human cytosolic 5'-nucleotidase II.", "journal": "Journal of molecular biology", "date": "2011", "authors": "Wallden K, Nordlund P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "21396942", "url": "https://glygen.org/publication/PubMed/21396942" } ] }, { "title": "The metabolism of ribavirin in erythrocytes and nucleated cells.", "journal": "The International journal of biochemistry", "date": "1990", "authors": "Page T, Connor JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "2159925", "url": "https://glygen.org/publication/PubMed/2159925" } ] }, { "title": "The pattern of gene expression and gene dose profiles of 6-Mercaptopurine- and 6-Thioguanine-resistant human leukemia cells.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Karim H, Hashemi J, Larsson C, Moshfegh A, Fotoohi AK, Albertioni F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "21723252", "url": "https://glygen.org/publication/PubMed/21723252" } ] }, { "title": "Nucleobase transport by human equilibrative nucleoside transporter 1 (hENT1).", "journal": "The Journal of biological chemistry", "date": "2011-09-16", "authors": "Yao Sylvia Y M, Ng Amy M L, Cass Carol E, Baldwin Stephen A, Young James D", "evidence": [ { "database": "UniProtKB", "id": "O43868", "url": "https://www.uniprot.org/uniprot/O43868" } ], "reference": [ { "type": "PubMed", "id": "21795683", "url": "https://glygen.org/publication/PubMed/21795683" } ] }, { "title": "Structure-based redesign of GST A2-2 for enhanced catalytic efficiency with azathioprine.", "journal": "Chemistry & biology", "date": "2012", "authors": "Zhang W, Moden O, Tars K, Mannervik B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "22444596", "url": "https://glygen.org/publication/PubMed/22444596" } ] }, { "title": "New insight into the molecular switch mechanism of human Rho family proteins: shifting a paradigm.", "journal": "Biological chemistry", "date": "2013", "authors": "Jaiswal M, Fansa EK, Dvorsky R, Ahmadian MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "23096567", "url": "https://glygen.org/publication/PubMed/23096567" } ] }, { "title": "Substrate specificity and oligomerization of human GMP synthetase.", "journal": "Journal of molecular biology", "date": "2013", "authors": "Welin M, Lehtio L, Johansson A, Flodin S, Nyman T, Tresaugues L, Hammarstrom M, Graslund S, Nordlund P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "23816837", "url": "https://glygen.org/publication/PubMed/23816837" } ] }, { "title": "Functional analysis of purine nucleoside phosphorylase as a key enzyme in ribavirin metabolism.", "journal": "Drug metabolism and pharmacokinetics", "date": "2014", "authors": "Furihata T, Kishida S, Sugiura H, Kamiichi A, Iikura M, Chiba K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "24107682", "url": "https://glygen.org/publication/PubMed/24107682" } ] }, { "title": "In vitro oxidative metabolism of 6-mercaptopurine in human liver: insights into the role of the molybdoflavoenzymes aldehyde oxidase, xanthine oxidase, and xanthine dehydrogenase.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2014", "authors": "Choughule KV, Barnaba C, Joswig-Jones CA, Jones JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "24824603", "url": "https://glygen.org/publication/PubMed/24824603" } ] }, { "title": "The ARL2 GTPase is required for mitochondrial morphology, motility, and maintenance of ATP levels.", "journal": "PloS one", "date": "2014", "authors": "Newman LE, Zhou CJ, Mudigonda S, Mattheyses AL, Paradies E, Marobbio CM, Kahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "24911211", "url": "https://glygen.org/publication/PubMed/24911211" } ] }, { "title": "Ribavirin uptake into human hepatocyte HHL5 cells is enhanced by interferon-alpha via up-regulation of the human concentrative nucleoside transporter (hCNT2).", "journal": "Molecular pharmaceutics", "date": "2014", "authors": "Pinilla-Macua I, Fernandez-Calotti P, Perez-Del-Pulgar S, Pastor-Anglada M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "24957263", "url": "https://glygen.org/publication/PubMed/24957263" } ] }, { "title": "Glutathione transferases in the bioactivation of azathioprine.", "journal": "Advances in cancer research", "date": "2014", "authors": "Moden O, Mannervik B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "24974183", "url": "https://glygen.org/publication/PubMed/24974183" } ] }, { "title": "Crystal structure, biochemical and cellular activities demonstrate separate functions of MTH1 and MTH2.", "journal": "Nature communications", "date": "2015", "authors": "Carter M, Jemth AS, Hagenkort A, Page BD, Gustafsson R, Griese JJ, Gad H, Valerie NC, Desroses M, Bostrom J, Warpman Berglund U, Helleday T, Stenmark P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "26238318", "url": "https://glygen.org/publication/PubMed/26238318" } ] }, { "title": "Molecular aspects of the adenine nucleotide carrier from mitochondria.", "journal": "Archives of biochemistry and biophysics", "date": "1989", "authors": "Klingenberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "2648994", "url": "https://glygen.org/publication/PubMed/2648994" } ] }, { "title": "Pharmacokinetics of ribavirin and urinary excretion of the major metabolite 1,2,4-triazole-3-carboxamide in normal volunteers.", "journal": "International journal of clinical pharmacology, therapy, and toxicology", "date": "1989", "authors": "Paroni R, Del Puppo M, Borghi C, Sirtori CR, Galli Kienle M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "2737800", "url": "https://glygen.org/publication/PubMed/2737800" } ] }, { "title": "The relationship between the metabolism of ribavirin and its proposed mechanism of action.", "journal": "Annals of the New York Academy of Sciences", "date": "1977", "authors": "Miller JP, Kigwana LJ, Streeter DG, Robins RK, Simon LN, Roboz J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "280136", "url": "https://glygen.org/publication/PubMed/280136" } ] }, { "title": "Substituted cysteine accessibility method (SCAM) analysis of the transport domain of human concentrative nucleoside transporter 3 (hCNT3) and other family members reveals features of structural and functional importance.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Mulinta R, Yao SYM, Ng AML, Cass CE, Young JD", "evidence": [ { "database": "RefSeq", "id": "NP_004203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203" } ], "reference": [ { "type": "PubMed", "id": "28385889", "url": "https://glygen.org/publication/PubMed/28385889" } ] }, { "title": "The roles of human MTH1, MTH2 and MTH3 proteins in maintaining genome stability under oxidative stress.", "journal": "Mutation research", "date": "2018", "authors": "Hashiguchi K, Hayashi M, Sekiguchi M, Umezu K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "29482072", "url": "https://glygen.org/publication/PubMed/29482072" } ] }, { "title": "Induction of inosine triphosphatase activity during ribavirin treatment for chronic hepatitis C.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "2018", "authors": "Tanaka Y, Yokomori H, Otori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "29580856", "url": "https://glygen.org/publication/PubMed/29580856" } ] }, { "title": "Inosine Triphosphate Pyrophosphatase Dephosphorylates Ribavirin Triphosphate and Reduced Enzymatic Activity Potentiates Mutagenesis in Hepatitis C Virus.", "journal": "Journal of virology", "date": "2018", "authors": "Nystrom K, Wanrooij PH, Waldenstrom J, Adamek L, Brunet S, Said J, Nilsson S, Wind-Rotolo M, Hellstrand K, Norder H, Tang KW, Lagging M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "30045981", "url": "https://glygen.org/publication/PubMed/30045981" } ] }, { "title": "Common variants in the SLC28A2 gene are associated with serum uric acid level and hyperuricemia and gout in Han Chinese.", "journal": "Hereditas", "date": "2019", "authors": "Zhou Z, Li Z, Wang C, Li X, Cheng X, Li C, Shi Y", "evidence": [ { "database": "RefSeq", "id": "NP_004203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203" } ], "reference": [ { "type": "PubMed", "id": "30679935", "url": "https://glygen.org/publication/PubMed/30679935" } ] }, { "title": "Transport of ribavirin across the rat and human placental barrier: Roles of nucleoside and ATP-binding cassette drug efflux transporters.", "journal": "Biochemical pharmacology", "date": "2019", "authors": "Karbanova S, Cerveny L, Jiraskova L, Karahoda R, Ceckova M, Ptackova Z, Staud F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "30716294", "url": "https://glygen.org/publication/PubMed/30716294" } ] }, { "title": "Azathioprine Biotransformation in Young Patients with Inflammatory Bowel Disease: Contribution of Glutathione-S Transferase M1 and A1 Variants.", "journal": "Genes", "date": "2019", "authors": "Lucafo M, Stocco G, Martelossi S, Favretto D, Franca R, Malusa N, Lora A, Bramuzzo M, Naviglio S, Cecchin E, Toffoli G, Ventura A, Decorti G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "30987408", "url": "https://glygen.org/publication/PubMed/30987408" } ] }, { "title": "Quantification of ENT1 and ENT2 Proteins at the Placental Barrier and Contribution of These Transporters to Ribavirin Uptake.", "journal": "Journal of pharmaceutical sciences", "date": "2019", "authors": "Nishimura T, Sano Y, Takahashi Y, Noguchi S, Uchida Y, Takagi A, Tanaka T, Katakura S, Nakashima E, Tachikawa M, Maruyama T, Terasaki T, Tomi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9755088", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9755088" } ], "reference": [ { "type": "PubMed", "id": "31520644", "url": "https://glygen.org/publication/PubMed/31520644" } ] }, { "title": "Characterization of deoxyribonucleoside transport mediated by concentrative nucleoside transporters.", "journal": "Biochemical and biophysical research communications", "date": "2021", "authors": "Yamamura T, Narumi K, Ohata T, Satoh H, Mori T, Furugen A, Kobayashi M, Iseki K", "evidence": [ { "database": "RefSeq", "id": "NP_004203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203" } ], "reference": [ { "type": "PubMed", "id": "33910126", "url": "https://glygen.org/publication/PubMed/33910126" } ] }, { "title": "Localization of Xenobiotic Transporters Expressed at the Human Blood-Testis Barrier.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2022-06", "authors": "Hau Raymond K, Klein Robert R, Wright Stephen H, Cherrington Nathan J", "evidence": [ { "database": "UniProtKB", "id": "O43868", "url": 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I. Purification, properties, and specificity.", "journal": "The Journal of biological chemistry", "date": "1969", "authors": "Krenitsky TA, Papaioannou R, Elion GB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "5767308", "url": "https://glygen.org/publication/PubMed/5767308" } ] }, { "title": "Unspecific permeation and specific exchange of adenine nucleotides in liver mitochondria.", "journal": "Biochimica et biophysica acta", "date": "1965", "authors": "Pfaff E, Klingenberg M, Heldt HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "5840415", "url": "https://glygen.org/publication/PubMed/5840415" } ] }, { "title": "[Exchange between extra- and intramitochondrial adenine nucleotides].", "journal": "Biochimica et biophysica acta", "date": "1965", "authors": "Duee ED, Vignais PV", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "5857365", "url": "https://glygen.org/publication/PubMed/5857365" } ] }, { "title": "Human erythrocyte thiopurine methyltransferase: radiochemical microassay and biochemical properties.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "1978", "authors": "Weinshilboum RM, Raymond FA, Pazmino PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "657528", "url": "https://glygen.org/publication/PubMed/657528" } ] }, { "title": "Quantitation of plasma azathioprine and 6-mercaptopurine levels in renal transplant patients.", "journal": "Transplantation", "date": "1980", "authors": "Lin SN, Jessup K, Floyd M, Wang TP, van Buren CT, Caprioli RM, Kahan BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "6989049", "url": "https://glygen.org/publication/PubMed/6989049" } ] }, { "title": "Cloning and expression of cDNA for a human enzyme that hydrolyzes 8-oxo-dGTP, a mutagenic substrate for DNA synthesis.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Sakumi K, Furuichi M, Tsuzuki T, Kakuma T, Kawabata S, Maki H, Sekiguchi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9748787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9748787" } ], "reference": [ { "type": "PubMed", "id": "8226881", "url": "https://glygen.org/publication/PubMed/8226881" } ] }, { "title": "Cellular phosphorylation of anti-HIV nucleosides. 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