{ "uniprot_canonical_ac": "O15244-1", "uniprot_ac": "O15244", "uniprot_id": "S22A2_HUMAN", "mass": { "chemical_mass": 62581.0, "monoisotopic_mass": 62581.0 }, "refseq": { "ac": "NP_003049", "name": "solute carrier family 22 member 2", "summary": "Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049" }, "gene_names": [ { "name": "SLC22A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15244", "id": "O15244" }, { "name": "OCT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049", "id": "NP_003049" }, { "name": "OCT2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15244", "id": "O15244" }, { "name": "SLC22A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049", "id": "NP_003049" } ], "protein_names": [ { "name": "Solute carrier family 22 member 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15244" }, { "name": "Organic cation transporter 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15244" }, { "name": "hOCT2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15244" }, { "name": "organic cation transporter 2; solute carrier family 22 (organic cation transporter), member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049", "id": "NP_003049" }, { "name": "solute carrier family 22 member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049", "id": "NP_003049" } ], "function": [ { "annotation": "Electrogenic voltage-dependent transporter that mediates the transport of a variety of organic cations such as endogenous bioactive amines, cationic drugs and xenobiotics (PubMed:9260930, PubMed:9687576). Functions as a Na(+)-independent, bidirectional uniporter (PubMed:9687576, PubMed:21128598). Cation cellular uptake or release is driven by the electrochemical potential, i.e. membrane potential and concentration gradient (PubMed:9260930, PubMed:9687576, PubMed:15212162). However, may also engage electroneutral cation exchange when saturating concentrations of cation substrates are reached (By similarity). Predominantly expressed at the basolateral membrane of hepatocytes and proximal tubules and involved in the uptake and disposition of cationic compounds by hepatic and renal clearance from the blood flow (PubMed:15783073). Implicated in monoamine neurotransmitters uptake such as histamine, dopamine, adrenaline/epinephrine, noradrenaline/norepinephrine, serotonin and tyramine, thereby supporting a physiological role in the central nervous system by regulating interstitial concentrations of neurotransmitters (PubMed:9687576, PubMed:16581093, PubMed:17460754). Also capable of transporting dopaminergic neuromodulators cyclo(his-pro), salsolinol and N-methyl-salsolinol, thereby involved in the maintenance of dopaminergic cell integrity in the central nervous system (PubMed:17460754). Mediates the bidirectional transport of acetylcholine (ACh) at the apical membrane of ciliated cell in airway epithelium, thereby playing a role in luminal release of ACh from bronchial epithelium (PubMed:15817714). Also transports guanidine and endogenous monoamines such as vitamin B1/thiamine, creatinine and N-1-methylnicotinamide (NMN) (PubMed:9260930, PubMed:12089365, PubMed:15212162, PubMed:17072098, PubMed:24961373). Mediates the uptake and efflux of quaternary ammonium compound choline (PubMed:9260930). Mediates the bidirectional transport of polyamine agmatine and the uptake of polyamines putrescine and spermidine (PubMed:12538837, PubMed:21128598). Able to transport non-amine endogenous compounds such as prostaglandin E2 (PGE2) and prostaglandin F2-alpha (PGF2-alpha) (PubMed:11907186). Also involved in the uptake of xenobiotic 4-(4-(dimethylamino)styryl)-N-methylpyridinium (ASP) (PubMed:12395288, PubMed:16394027). May contribute to regulate the transport of organic compounds in testis across the blood-testis-barrier (Probable).", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244#function" }, { "database": "PubMed", "id": "12538837", "url": "https://glygen.org/publication/PubMed/12538837" }, { "database": "PubMed", "id": "15783073", "url": "https://glygen.org/publication/PubMed/15783073" }, { "database": "PubMed", "id": "9260930", "url": "https://glygen.org/publication/PubMed/9260930" }, { "database": "PubMed", "id": "17072098", "url": "https://glygen.org/publication/PubMed/17072098" }, { "database": "PubMed", "id": "16394027", "url": "https://glygen.org/publication/PubMed/16394027" }, { "database": "PubMed", "id": "12395288", "url": "https://glygen.org/publication/PubMed/12395288" }, { "database": "PubMed", "id": "9687576", "url": "https://glygen.org/publication/PubMed/9687576" }, { "database": "PubMed", "id": "12089365", "url": "https://glygen.org/publication/PubMed/12089365" }, { "database": "PubMed", "id": "11907186", "url": "https://glygen.org/publication/PubMed/11907186" }, { "database": "PubMed", "id": "15817714", "url": "https://glygen.org/publication/PubMed/15817714" }, { "database": "UniProtKB", "id": "Q9R0W2", "url": "https://www.uniprot.org/uniprot/Q9R0W2#function" }, { "database": "PubMed", "id": "35307651", "url": "https://glygen.org/publication/PubMed/35307651" }, { "database": "PubMed", "id": "17460754", "url": "https://glygen.org/publication/PubMed/17460754" }, { "database": "PubMed", "id": "24961373", "url": "https://glygen.org/publication/PubMed/24961373" }, { "database": "PubMed", "id": "16581093", "url": "https://glygen.org/publication/PubMed/16581093" }, { "database": "PubMed", "id": "21128598", "url": "https://glygen.org/publication/PubMed/21128598" }, { "database": "PubMed", "id": "15212162", "url": "https://glygen.org/publication/PubMed/15212162" } ] }, { "annotation": "In contrast with isoform 1, not able to transport guanidine, creatinine, cimetidine and metformin.", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244#function" }, { "database": "PubMed", "id": "16272756", "url": "https://glygen.org/publication/PubMed/16272756" }, { "database": "PubMed", "id": "12089365", "url": "https://glygen.org/publication/PubMed/12089365" }, { "database": "PubMed", "id": "15212162", "url": "https://glygen.org/publication/PubMed/15212162" } ] }, { "annotation": "Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049" } ] }, { "annotation": "Promoter haplotype structure of solute carrier 22 member 2 (SLC22A2) in the Xhosa population of South Africa and their differential effect on gene expression.", "evidence": [ { "database": "RefSeq", "id": "NP_003049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049" }, { "database": "PubMed", "id": "35143948", "url": "https://glygen.org/publication/PubMed/35143948" } ] }, { "annotation": "Role of Organic Cation Transporter 2 in Autophagy Induced by Platinum Derivatives. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049" }, { "database": "PubMed", "id": "35163014", "url": "https://glygen.org/publication/PubMed/35163014" } ] }, { "annotation": "The SLC22A2 gene is a determinant of hematological toxicity of oxaliplatin in patients with colorectal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_003049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049" }, { "database": "PubMed", "id": "36331012", "url": "https://glygen.org/publication/PubMed/36331012" } ] }, { "annotation": "Transport Turnover Rates for Human OCT2 and MATE1 Expressed in Chinese Hamster Ovary Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049" }, { "database": "PubMed", "id": "35163393", "url": "https://glygen.org/publication/PubMed/35163393" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O15244", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15244" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 128, "end_pos": 128, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (YET->NET).", "chr_id": "6", "chr_pos": "160258376", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Y128", "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": "rs1306262331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306262331" }, { "id": "rs1306262331", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1306262331" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 189, "end_pos": 189, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "6", "chr_pos": "160250656", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A189", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15244", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15244" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 333, "end_pos": 333, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NHS).", "chr_id": "6", "chr_pos": "160245505", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P333", "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": "O15244", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15244" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 333, "end_pos": 333, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NRS).", "chr_id": "6", "chr_pos": "160245505", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P333", "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15244" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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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 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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CANONICAL=O15244-1" }, "locus": { "chromosome": "6", "start_pos": 160258694, "end_pos": 160245438, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000366952.1", "url": "https://www.ensembl.org/id/ENST00000366952.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000355919.1", "url": "https://www.ensembl.org/id/ENSP00000355919.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 72, "start_aa": "Asn", "end_pos": 72, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn72", "evidence": [ { "id": "O15244", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15244#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.", "journal": "Human molecular genetics", "date": "1999", "authors": "Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, Wanders RJ, Fok TF, Hjelm NM", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "10072434", "url": "https://glygen.org/publication/PubMed/10072434" } ] }, { "title": "Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter.", "journal": "Nature neuroscience", "date": "1998", "authors": "Grundemann D, Schechinger B, Rappold GA, Schomig E", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "10196521", "url": "https://glygen.org/publication/PubMed/10196521" } ] }, { "title": "Functional characterization of the Betaine/gamma-aminobutyric acid transporter BGT-1 expressed in Xenopus oocytes.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Matskevitch I, Wagner CA, Stegen C, Broer S, Noll B, Risler T, Kwon HM, Handler JS, Waldegger S, Busch AE, Lang F", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10358010", "url": "https://glygen.org/publication/PubMed/10358010" } ] }, { "title": "Cloning and functional expression of a human Na(+) and Cl(-)-dependent neutral and cationic amino acid transporter B(0+).", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sloan JL, Mager S", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10446133", "url": "https://glygen.org/publication/PubMed/10446133" } ] }, { "title": "Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.", "journal": "The New England journal of medicine", "date": "2000", "authors": "Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10684912", "url": "https://glygen.org/publication/PubMed/10684912" } ] }, { "title": "Human dopamine transporter gene: coding region conservation among normal, Tourette's disorder, alcohol dependence and attention-deficit hyperactivity disorder populations.", "journal": "Molecular psychiatry", "date": "2000", "authors": "Vandenbergh DJ, Thompson MD, Cook EH, Bendahhou E, Nguyen T, Krasowski MD, Zarrabian D, Comings D, Sellers EM, Tyndale RF, George SR, O'Dowd BF, Uhl GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": 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Genet.", "date": "2000", "authors": "Gr\u00fcndemann D, Sch\u00f6mig E", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "10942111", "url": "https://glygen.org/publication/PubMed/10942111" } ] }, { "title": "Structure, function, and regional distribution of the organic cation transporter OCT3 in the kidney.", "journal": "American journal of physiology. Renal physiology", "date": "2000", "authors": "Wu X, Huang W, Ganapathy ME, Wang H, Kekuda R, Conway SJ, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "10966924", "url": "https://glygen.org/publication/PubMed/10966924" } ] }, { "title": "Role of Cl- in electrogenic Na+-coupled cotransporters GAT1 and SGLT1.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Loo DD, Eskandari S, Boorer KJ, Sarkar HK, Wright EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10973981", "url": "https://glygen.org/publication/PubMed/10973981" } ] }, { "title": "Structures of recombinant native and E202Q mutant human acetylcholinesterase complexed with the snake-venom toxin fasciculin-II.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2000", "authors": "Kryger G, Harel M, Giles K, Toker L, Velan B, Lazar A, Kronman C, Barak D, Ariel N, Shafferman A, Silman I, Sussman JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-112311", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112311" } ], "reference": [ { "type": "PubMed", "id": "11053835", "url": "https://glygen.org/publication/PubMed/11053835" } ] }, { "title": "The new cholinesterase inhibitors for Alzheimer's disease, Part 2: illustrating their mechanisms of action.", "journal": "The Journal of clinical psychiatry", "date": "2000", "authors": "Stahl SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-112311", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112311" } ], "reference": [ { "type": "PubMed", "id": "11105732", "url": "https://glygen.org/publication/PubMed/11105732" } ] }, { "title": "Human organic anion transporters and human organic cation transporters mediate renal transport of prostaglandins.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2002-04", "authors": "Kimura Hiroaki, Takeda Michio, Narikawa Shinichi, Enomoto Atsushi, Ichida Kimiyoshi, Endou Hitoshi", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "11907186", "url": "https://glygen.org/publication/PubMed/11907186" } ] }, { "title": "Gene expression levels and immunolocalization of organic ion transporters in the human kidney.", "journal": "J. Am. Soc. Nephrol.", "date": "2002", "authors": "Motohashi H, Sakurai Y, Saito H, Masuda S, Urakami Y, Goto M, Fukatsu A, Ogawa O, Inui KI", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "11912245", "url": "https://glygen.org/publication/PubMed/11912245" } ] }, { "title": "Molecular identification of a novel carnitine transporter specific to human testis. Insights into the mechanism of carnitine recognition.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Enomoto A, Wempe MF, Tsuchida H, Shin HJ, Cha SH, Anzai N, Goto A, Sakamoto A, Niwa T, Kanai Y, Anders MW, Endou H", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "12089149", "url": "https://glygen.org/publication/PubMed/12089149" } ] }, { "title": "cDNA cloning, functional characterization, and tissue distribution of an alternatively spliced variant of organic cation transporter hOCT2 predominantly expressed in the human kidney.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2002", "authors": "Urakami Y, Akazawa M, Saito H, Okuda M, Inui K", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "12089365", "url": "https://glygen.org/publication/PubMed/12089365" } ] }, { "title": "Polymorphisms in a human kidney xenobiotic transporter, OCT2, exhibit altered function.", "journal": "Pharmacogenetics", "date": "2002", "authors": "Leabman MK, Huang CC, Kawamoto M, Johns SJ, Stryke D, Ferrin TE, DeYoung J, Taylor T, Clark AG, Herskowitz I, Giacomini KM", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "12142729", "url": "https://glygen.org/publication/PubMed/12142729" } ] }, { "title": "Novel human cDNAs homologous to Drosophila Orct and mammalian carnitine transporters.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Eraly SA, Nigam SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "12372408", "url": "https://glygen.org/publication/PubMed/12372408" } ] }, { "title": "Identification of OCT6 as a novel organic cation transporter preferentially expressed in hematopoietic cells and leukemias.", "journal": "Experimental hematology", "date": "2002", "authors": "Gong S, Lu X, Xu Y, Swiderski CF, Jordan CT, Moscow JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "12384147", "url": "https://glygen.org/publication/PubMed/12384147" } ] }, { "title": "The organic cation transporters rOCT1 and hOCT2 are inhibited by cGMP.", "journal": "The Journal of membrane biology", "date": "2002-10-01", "authors": "Schlatter E, M\u00f6nnich V, Cetinkaya I, Mehrens T, Ciarimboli G, Hirsch J R, Popp C, Koepsell H", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "12395288", "url": "https://glygen.org/publication/PubMed/12395288" } ] }, { "title": "Phosphorylation of Munc18 by protein kinase C regulates the kinetics of exocytosis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Barclay JW, Craig TJ, Fisher RJ, Ciufo LF, Evans GJ, Morgan A, Burgoyne RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-181430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181430" } ], "reference": [ { "type": "PubMed", "id": "12519779", "url": "https://glygen.org/publication/PubMed/12519779" } ] }, { "title": "Agmatine is efficiently transported by non-neuronal monoamine transporters extraneuronal monoamine transporter (EMT) and organic cation transporter 2 (OCT2).", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2003-02", "authors": "Gr\u00fcndemann Dirk, Hahne Christian, Berkels Reinhard, Sch\u00f6mig Edgar", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "12538837", "url": "https://glygen.org/publication/PubMed/12538837" } ] }, { "title": "An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.", "journal": "Nature genetics", "date": "2003", "authors": "Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshino S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "14608356", "url": "https://glygen.org/publication/PubMed/14608356" } ] }, { "title": "Functional variants of OCTN cation transporter genes are associated with Crohn disease.", "journal": "Nature genetics", "date": "2004", "authors": "Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "15107849", "url": "https://glygen.org/publication/PubMed/15107849" } ] }, { "title": "Hypertension and impaired glycine handling in mice lacking the orphan transporter XT2.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Quan H, Athirakul K, Wetsel WC, Torres GE, Stevens R, Chen YT, Coffman TM, Caron MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "15121838", "url": "https://glygen.org/publication/PubMed/15121838" } ] }, { "title": "SLC22A4 and RUNX1: identification of RA susceptible genes.", "journal": "Journal of molecular medicine (Berlin, Germany)", "date": "2004", "authors": "Yamada R, Tokuhiro S, Chang X, Yamamoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "15184985", "url": "https://glygen.org/publication/PubMed/15184985" } ] }, { "title": "Creatinine transport by basolateral organic cation transporter hOCT2 in the human kidney.", "journal": "Pharmaceutical research", "date": "2004-06", "authors": "Urakami Yumiko, Kimura Naoko, Okuda Masahiro, Inui Ken-ichi", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "15212162", "url": "https://glygen.org/publication/PubMed/15212162" } ] }, { "title": "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.", "journal": "Nature genetics", "date": "2004", "authors": "Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "15286787", "url": "https://glygen.org/publication/PubMed/15286787" } ] }, { "title": "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.", "journal": "Nature genetics", "date": "2004", "authors": "Seow HF, Broer S, Broer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "15286788", "url": "https://glygen.org/publication/PubMed/15286788" } ] }, { "title": "Different transport properties between famotidine and cimetidine by human renal organic ion transporters (SLC22A).", "journal": "Eur. J. Pharmacol.", "date": "2004", "authors": "Motohashi Hideyuki, Uwai Yuichi, Hiramoto Kiyo, Okuda Masahiro, Inui Ken-Ichi", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "15496291", "url": "https://glygen.org/publication/PubMed/15496291" } ] }, { "title": "Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Takanaga H, Mackenzie B, Suzuki Y, Hediger MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "15632147", "url": "https://glygen.org/publication/PubMed/15632147" } ] }, { "title": "Metformin transport by renal basolateral organic cation transporter hOCT2.", "journal": "Pharmaceutical research", "date": "2005-02", "authors": "Kimura Naoko, Okuda Masahiro, Inui Ken-ichi", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "15783073", "url": "https://glygen.org/publication/PubMed/15783073" } ] }, { "title": "Discovery of the ergothioneine transporter.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Grundemann D, Harlfinger S, Golz S, Geerts A, Lazar A, Berkels R, Jung N, Rubbert A, Schomig E", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "15795384", "url": "https://glygen.org/publication/PubMed/15795384" } ] }, { "title": "Polyspecific cation transporters mediate luminal release of acetylcholine from bronchial epithelium.", "journal": "American journal of respiratory cell and molecular biology", "date": "2005-07", "authors": "Lips Katrin Susanne, Volk Christopher, Schmitt Bernhard Matthias, Pfeil Uwe, Arndt Petra, Miska Dagmar, Ermert Leander, Kummer Wolfgang, Koepsell Hermann", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "15817714", "url": "https://glygen.org/publication/PubMed/15817714" } ] }, { "title": "Munc18-1 stabilizes syntaxin 1, but is not essential for syntaxin 1 targeting and SNARE complex formation.", "journal": "Journal of neurochemistry", "date": "2005", "authors": "Toonen RF, de Vries KJ, Zalm R, Sudhof TC, Verhage M", "evidence": [ { "database": "Reactome", "id": "R-HSA-181430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181430" } ], "reference": [ { "type": "PubMed", "id": "15935055", "url": "https://glygen.org/publication/PubMed/15935055" } ] }, { "title": "A species difference in the transport activities of H2 receptor antagonists by rat and human renal organic anion and cation transporters.", "journal": "J. Pharmacol. Exp. Ther.", "date": "2005", "authors": "Tahara Harunobu, Kusuhara Hiroyuki, Endou Hitoshi, Koepsell Hermann, Imaoka Tomoki, Fuse Eiichi, Sugiyama Yuichi", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "16006492", "url": "https://glygen.org/publication/PubMed/16006492" } ] }, { "title": "The repertoire of solute carriers of family 6: identification of new human and rodent genes.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Hoglund PJ, Adzic D, Scicluna SJ, Lindblom J, Fredriksson R", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "16125675", "url": "https://glygen.org/publication/PubMed/16125675" } ] }, { "title": "Characterization of a branched-chain amino-acid transporter SBAT1 (SLC6A15) that is expressed in human brain.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Takanaga H, Mackenzie B, Peng JB, Hediger MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "16226721", "url": "https://glygen.org/publication/PubMed/16226721" } ] }, { "title": "Drug specificity and intestinal membrane localization of human organic cation transporters (OCT).", "journal": "Biochem. Pharmacol.", "date": "2005", "authors": "M\u00fcller Johanna, Lips Katrin S, Metzner Linda, Neubert Reinhard H H, Koepsell Hermann, Brandsch Matthias", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "16263091", "url": "https://glygen.org/publication/PubMed/16263091" } ] }, { "title": "Metformin is a superior substrate for renal organic cation transporter OCT2 rather than hepatic OCT1.", "journal": "Drug metabolism and pharmacokinetics", "date": "2005-10", "authors": "Kimura Naoko, Masuda Satohiro, Tanihara Yuko, Ueo Harumasa, Okuda Masahiro, Katsura Toshiya, Inui Ken-Ichi", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "16272756", "url": "https://glygen.org/publication/PubMed/16272756" } ] }, { "title": "Cisplatin nephrotoxicity is critically mediated via the human organic cation transporter 2.", "journal": "Am. J. Pathol.", "date": "2005", "authors": "Ciarimboli Giuliano, Ludwig Thomas, Lang Detlef, Pavenst\u00e4dt Hermann, Koepsell Hermann, Piechota Hans-J\u00fcrgen, Haier J\u00f6rg, Jaehde Ulrich, Zisowsky Jochen, Schlatter Eberhard", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "16314463", "url": "https://glygen.org/publication/PubMed/16314463" } ] }, { "title": "Characterization of regulatory mechanisms and states of human organic cation transporter 2.", "journal": "American journal of physiology. Cell physiology", "date": "2006-06", "authors": "Biermann J\u00fcrgen, Lang Detlef, Gorboulev Valentin, Koepsell Hermann, Sindic Aleksandra, Schr\u00f6ter Rita, Zvirbliene Aurelija, Pavenst\u00e4dt Hermann, Schlatter Eberhard, Ciarimboli Giuliano", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "16394027", "url": "https://glygen.org/publication/PubMed/16394027" } ] }, { "title": "Differential pharmacological in vitro properties of organic cation transporters and regional distribution in rat brain.", "journal": "Neuropharmacology", "date": "2006-06", "authors": "Amphoux Anne, Vialou Vincent, Drescher Eva, Br\u00fcss Michael, Mannoury La Cour Clotilde, Rochat Catherine, Millan Mark J, Giros Bruno, B\u00f6nisch Heinz, Gautron Sophie", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "16581093", "url": "https://glygen.org/publication/PubMed/16581093" } ] }, { "title": "Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.", "journal": "Nature genetics", "date": "2006", "authors": "Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "16751771", "url": "https://glygen.org/publication/PubMed/16751771" } ] }, { "title": "RS1 (RSC1A1) regulates the exocytotic pathway of Na+-D-glucose cotransporter SGLT1.", "journal": "American journal of physiology. Renal physiology", "date": "2006", "authors": "Veyhl M, Keller T, Gorboulev V, Vernaleken A, Koepsell H", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "16788146", "url": "https://glygen.org/publication/PubMed/16788146" } ] }, { "title": "Cisplatin and oxaliplatin, but not carboplatin and nedaplatin, are substrates for human organic cation transporters (SLC22A1-3 and multidrug and toxin extrusion family).", "journal": "J. Pharmacol. Exp. Ther.", "date": "2006", "authors": "Yonezawa Atsushi, Masuda Satohiro, Yokoo Sachiko, Katsura Toshiya, Inui Ken-Ichi", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "16914559", "url": "https://glygen.org/publication/PubMed/16914559" } ] }, { "title": "Organic cation transporters are determinants of oxaliplatin cytotoxicity.", "journal": "Cancer Res.", "date": "2006", "authors": "Zhang Shuzhong, Lovejoy Katherine S, Shima James E, Lagpacan Leah L, Shu Yan, Lapuk Anna, Chen Ying, Komori Takafumi, Gray Joe W, Chen Xin, Lippard Stephen J, Giacomini Kathleen M", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "16951202", "url": "https://glygen.org/publication/PubMed/16951202" } ] }, { "title": "Interactions of fluoroquinolone antibacterials, DX-619 and levofloxacin, with creatinine transport by renal organic cation transporter hOCT2.", "journal": "Drug metabolism and pharmacokinetics", "date": "2006-10", "authors": "Okuda Masahiro, Kimura Naoko, Inui Ken-ichi", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "17072098", "url": "https://glygen.org/publication/PubMed/17072098" } ] }, { "title": "Human organic cation transporter (OCT1 and OCT2) gene polymorphisms and therapeutic effects of metformin.", "journal": "Journal of human genetics", "date": "2007", "authors": "Shikata E, Yamamoto R, Takane H, Shigemasa C, Ikeda T, Otsubo K, Ieiri I", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "17111267", "url": "https://glygen.org/publication/PubMed/17111267" } ] }, { "title": "Munc18-1 binds directly to the neuronal SNARE complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Dulubova I, Khvotchev M, Liu S, Huryeva I, Sudhof TC, Rizo J", "evidence": [ { "database": "Reactome", "id": "R-HSA-181430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181430" } ], "reference": [ { "type": "PubMed", "id": "17301226", "url": "https://glygen.org/publication/PubMed/17301226" } ] }, { "title": "The organic cation transporters (OCT1, OCT2, EMT) and the plasma membrane monoamine transporter (PMAT) show differential distribution and cyclic expression pattern in human endometrium and early pregnancy decidua.", "journal": "Mol. Reprod. Dev.", "date": "2007", "authors": "Bottalico Barbara, Noskova Vera, Pilka Radovan, Larsson Irene, Domanski Henryk, Cassl\u00e9n Bertil, Hansson Stefan R", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "17393420", "url": "https://glygen.org/publication/PubMed/17393420" } ] }, { "title": "Abcg2/Bcrp1 mediates the polarized transport of antiretroviral nucleosides abacavir and zidovudine.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2007", "authors": "Pan G, Giri N, Elmquist WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2161517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2161517" } ], "reference": [ { "type": "PubMed", "id": "17437964", "url": "https://glygen.org/publication/PubMed/17437964" } ] }, { "title": "Identification of the endogenous key substrates of the human organic cation transporter OCT2 and their implication in function of dopaminergic neurons.", "journal": "PloS one", "date": "2007-04-25", "authors": "Taubert Dirk, Grimberg Gundula, Stenzel Werner, Sch\u00f6mig Edgar", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "17460754", "url": "https://glygen.org/publication/PubMed/17460754" } ] }, { "title": "How synaptotagmin promotes membrane fusion.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Martens S, Kozlov MM, McMahon HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-181430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181430" } ], "reference": [ { "type": "PubMed", "id": "17478680", "url": "https://glygen.org/publication/PubMed/17478680" } ] }, { "title": "The effect of elimination of intersubunit disulfide bonds on the activity, assembly, and secretion of recombinant human acetylcholinesterase. Expression of acetylcholinesterase Cys-580----Ala mutant.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Velan B, Grosfeld H, Kronman C, Leitner M, Gozes Y, Lazar A, Flashner Y, Marcus D, Cohen S, Shafferman A", "evidence": [ { "database": "Reactome", "id": "R-HSA-112311", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112311" } ], "reference": [ { "type": "PubMed", "id": "1748670", "url": "https://glygen.org/publication/PubMed/1748670" } ] }, { "title": "Cloning and characterization of a functional human gamma-aminobutyric acid (GABA) transporter, human GAT-2.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Christiansen B, Meinild AK, Jensen AA, Brauner-Osborne H", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "17502375", "url": "https://glygen.org/publication/PubMed/17502375" } ] }, { "title": "Intramolecular disulfide bond is a critical check point determining degradative fates of ATP-binding cassette (ABC) transporter ABCG2 protein.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Wakabayashi K, Nakagawa H, Tamura A, Koshiba S, Hoshijima K, Komada M, Ishikawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2161517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2161517" } ], "reference": [ { "type": "PubMed", "id": "17686774", "url": "https://glygen.org/publication/PubMed/17686774" } ] }, { "title": "P-glycoprotein-mediated active efflux of the anti-HIV1 nucleoside abacavir limits cellular accumulation and brain distribution.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2007", "authors": "Shaik N, Giri N, Pan G, Elmquist WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2161517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2161517" } ], "reference": [ { "type": "PubMed", "id": "17709369", "url": "https://glygen.org/publication/PubMed/17709369" } ] }, { "title": "Identification of the substrate binding region of vesicular monoamine transporter-2 (VMAT-2) using iodoaminoflisopolol as a novel photoprobe.", "journal": "Molecular pharmacology", "date": "2007", "authors": "Gopalakrishnan A, Sievert M, Ruoho AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-181430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181430" } ], "reference": [ { "type": "PubMed", "id": "17766642", "url": "https://glygen.org/publication/PubMed/17766642" } ] }, { "title": "Synaptotagmin activates membrane fusion through a Ca2+-dependent trans interaction with phospholipids.", "journal": "Nature structural & molecular biology", "date": "2007", "authors": "Stein A, Radhakrishnan A, Riedel D, Fasshauer D, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-181430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181430" } ], "reference": [ { "type": "PubMed", "id": "17891149", "url": "https://glygen.org/publication/PubMed/17891149" } ] }, { "title": "Rational design of a drug for Alzheimer's disease with cholinesterase inhibitory and neuroprotective activity.", "journal": "Chemico-biological interactions", "date": "2008", "authors": "Weinstock M, Groner E", "evidence": [ { "database": "Reactome", "id": "R-HSA-112311", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112311" } ], "reference": [ { "type": "PubMed", "id": "18457821", "url": "https://glygen.org/publication/PubMed/18457821" } ] }, { "title": "Human solute carrier SLC6A14 is the beta-alanine carrier.", "journal": "The Journal of physiology", "date": "2008", "authors": "Anderson CM, Ganapathy V, Thwaites DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "18599538", "url": "https://glygen.org/publication/PubMed/18599538" } ] }, { "title": "Transport of lamivudine [(-)-beta-L-2',3'-dideoxy-3'-thiacytidine] and high-affinity interaction of nucleoside reverse transcriptase inhibitors with human organic cation transporters 1, 2, and 3.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2009", "authors": "Minuesa G, Volk C, Molina-Arcas M, Gorboulev V, Erkizia I, Arndt P, Clotet B, Pastor-Anglada M, Koepsell H, Martinez-Picado J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2161517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2161517" } ], "reference": [ { "type": "PubMed", "id": "19141712", "url": "https://glygen.org/publication/PubMed/19141712" } ] }, { "title": "Expression cloning of a cocaine- and antidepressant-sensitive human noradrenaline transporter.", "journal": "Nature", "date": "1991", "authors": "Pacholczyk T, Blakely RD, Amara SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "2008212", "url": "https://glygen.org/publication/PubMed/2008212" } ] }, { "title": "Xenobiotic, bile acid, and cholesterol transporters: function and regulation.", "journal": "Pharmacological reviews", "date": "2010", "authors": "Klaassen CD, Aleksunes LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2161517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2161517" } ], "reference": [ { "type": "PubMed", "id": "20103563", "url": "https://glygen.org/publication/PubMed/20103563" } ] }, { "title": "OCT2 and MATE1 provide bidirectional agmatine transport.", "journal": "Molecular pharmaceutics", "date": "2011-02-07", "authors": "Winter Tate N, Elmquist William F, Fairbanks Carolyn A", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "21128598", "url": "https://glygen.org/publication/PubMed/21128598" } ] }, { "title": "Recurrent R-spondin fusions in colon cancer.", "journal": "Nature", "date": "2012", "authors": "Seshagiri S, Stawiski EW, Durinck S, Modrusan Z, Storm EE, Conboy CB, Chaudhuri S, Guan Y, Janakiraman V, Jaiswal BS, Guillory J, Ha C, Dijkgraaf GJ, Stinson J, Gnad F, Huntley MA, Degenhardt JD, Haverty PM, Bourgon R, Wang W, Koeppen H, Gentleman R, Starr TK, Zhang Z, Largaespada DA, Wu TD, de Sauvage FJ", "evidence": [ { "database": "dbSNP", "id": "rs769783921", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769783921" } ], "reference": [ { "type": "PubMed", "id": "22895193", "url": "https://glygen.org/publication/PubMed/22895193" } ] }, { "title": "Cloning of the human brain GABA transporter.", "journal": "FEBS letters", "date": "1990", "authors": "Nelson H, Mandiyan S, Nelson N", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "2387399", "url": "https://glygen.org/publication/PubMed/2387399" } ] }, { "title": "OCT1 is a high-capacity thiamine transporter that regulates hepatic steatosis and is a target of metformin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014-07-08", "authors": "Chen Ligong, Shu Yan, Liang Xiaomin, Chen Eugene C, Yee Sook Wah, Zur Arik A, Li Shuanglian, Xu Lu, Keshari Kayvan R, Lin Michael J, Chien Huan-Chieh, Zhang Youcai, Morrissey Kari M, Liu Jason, Ostrem Jonathan, Younger Noah S, Kurhanewicz John, Shokat Kevan M, Ashrafi Kaveh, Giacomini Kathleen M", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "24961373", "url": "https://glygen.org/publication/PubMed/24961373" } ] }, { "title": "A phosphotyrosine switch regulates organic cation transporters.", "journal": "Nature communications", "date": "2016-03-16", "authors": "Sprowl Jason A, Ong Su Sien, Gibson Alice A, Hu Shuiying, Du Guoqing, Lin Wenwei, Li Lie, Bharill Shashank, Ness Rachel A, Stecula Adrian, Offer Steven M, Diasio Robert B, Nies Anne T, Schwab Matthias, Cavaletti Guido, Schlatter Eberhard, Ciarimboli Giuliano, Schellens Jan H M, Isacoff Ehud Y, Sali Andrej, Chen Taosheng, Baker Sharyn D, Sparreboom Alex, Pabla Navjotsingh", "evidence": [ { "database": "UniProtKB", "id": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "26979622", "url": "https://glygen.org/publication/PubMed/26979622" } ] }, { "title": "Promoter haplotype structure of solute carrier 22 member 2 (SLC22A2) in the Xhosa population of South Africa and their differential effect on gene expression.", "journal": "Gene", "date": "2022", "authors": "Abrahams-October Z, Lloyd S, Pearce B, Johnson R, Benjeddou M", "evidence": [ { "database": "RefSeq", "id": "NP_003049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049" } ], "reference": [ { "type": "PubMed", "id": "35143948", "url": "https://glygen.org/publication/PubMed/35143948" } ] }, { "title": "Role of Organic Cation Transporter 2 in Autophagy Induced by Platinum Derivatives.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Eltayeb SA, Ciarimboli G, Beul K, Seno Di Marco G, Barz V", "evidence": [ { "database": "RefSeq", "id": "NP_003049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049" } ], "reference": [ { "type": "PubMed", "id": "35163014", "url": "https://glygen.org/publication/PubMed/35163014" } ] }, { "title": "Transport Turnover Rates for Human OCT2 and MATE1 Expressed in Chinese Hamster Ovary Cells.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Zhang X, Wright SH", "evidence": [ { "database": "RefSeq", "id": "NP_003049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049" } ], "reference": [ { "type": "PubMed", "id": "35163393", "url": "https://glygen.org/publication/PubMed/35163393" } ] }, { "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": "O15244", "url": "https://www.uniprot.org/uniprot/O15244" } ], "reference": [ { "type": "PubMed", "id": "35307651", "url": "https://glygen.org/publication/PubMed/35307651" } ] }, { "title": "The SLC22A2 gene is a determinant of hematological toxicity of oxaliplatin in patients with colorectal cancer.", "journal": "International journal of clinical pharmacology and therapeutics", "date": "2022-11-04", "authors": "Chen Jiayin, Wang Li, Tong Gangling, Ma Jie, Liu Chaoran, Wang Lijun", "evidence": [ { "database": "RefSeq", "id": "NP_003049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003049" } ], "reference": [ { "type": "PubMed", "id": "36331012", "url": "https://glygen.org/publication/PubMed/36331012" } ] }, { "title": "Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney.", "journal": "FEBS letters", "date": "1995", "authors": "Rasola A, Galietta LJ, Barone V, Romeo G, Bagnasco S", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "7589472", "url": "https://glygen.org/publication/PubMed/7589472" } ] }, { "title": "Human brain-specific L-proline transporter: molecular cloning, functional expression, and chromosomal localization of the gene in human and mouse genomes.", "journal": "Molecular pharmacology", "date": "1995", "authors": "Shafqat S, Velaz-Faircloth M, Henzi VA, Whitney KD, Yang-Feng TL, Seldin MF, Fremeau RT Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "7651355", "url": "https://glygen.org/publication/PubMed/7651355" } ] }, { "title": "Cloning of the human homologue of the GABA transporter GAT-3 and identification of a novel inhibitor with selectivity for this site.", "journal": "Receptors & channels", "date": "1994", "authors": "Borden LA, Dhar TG, Smith KE, Branchek TA, Gluchowski C, Weinshank RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "7874447", "url": "https://glygen.org/publication/PubMed/7874447" } ] }, { "title": "Functional characterization and chromosomal localization of a cloned taurine transporter from human placenta.", "journal": "The Biochemical journal", "date": "1994", "authors": "Ramamoorthy S, Leibach FH, Mahesh VB, Han H, Yang-Feng T, Blakely 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of the gene in the human and mouse genomes.", "journal": "Molecular pharmacology", "date": "1994", "authors": "Kim KM, Kingsmore SF, Han H, Yang-Feng TL, Godinot N, Seldin MF, Caron MG, Giros B", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "8183239", "url": "https://glygen.org/publication/PubMed/8183239" } ] }, { "title": "Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-181430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181430" } ], "reference": [ { "type": "PubMed", "id": "8211186", "url": "https://glygen.org/publication/PubMed/8211186" } ] }, { "title": "Functional identification and molecular cloning of a human 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